DMD (dystrophin)

Gene

• Entrez ID: 1756
• Gene name: Dystrophin
• Gene symbol: DMD
• Synonyms (NCBI Gene): BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
• Chromosome: X
• Chromosome location: Xp21.2-p21.1
• Summary: This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1064325	G>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs5030730	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs72466562	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs72466563	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs72466567	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs72466575	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs72466581	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs72466590	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs72468632	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs72468680	T>G	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs72468700	T>C,G	Likely-benign, pathogenic	Intron variant, genic upstream transcript variant
rs72470513	T>C	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs72470523	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic upstream transcript variant
rs104894787	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104894788	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104894789	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104894790	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104894791	G>A	Pathogenic, uncertain-significance	Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant
rs104894797	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs112516305	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs116283249	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs128625226	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs128625227	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs128625228	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, genic upstream transcript variant
rs128625229	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs128625230	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs128626231	A>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, genic upstream transcript variant
rs128626232	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs128626233	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, genic upstream transcript variant
rs128626234	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs128626235	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs128626236	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs128626237	A>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs128626238	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs128626239	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs128626240	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs128626241	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs128626242	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs128626243	T>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs128626244	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs128626245	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs128626246	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs128626247	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs128626248	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs128626249	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs128626250	G>A,C	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs128626251	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs128626252	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs128626253	C>A,G	Pathogenic, uncertain-significance	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs128626254	G>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs128627255	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs128627256	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs128627257	A>C	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs137905486	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs138335295	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs139365076	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs139395045	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs139772014	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs140913030	C>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, intron variant, missense variant, genic upstream transcript variant
rs141151675	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs142236825	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs142500746	C>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs142807436	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs142967431	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, missense variant, genic upstream transcript variant
rs143426249	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs143719666	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs143900318	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs144103124	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs144518527	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs144667422	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs144732570	G>A,T	Pathogenic, likely-benign, benign	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs145181319	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs145266970	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs145603325	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, splice donor variant, downstream transcript variant, genic downstream transcript variant
rs145739725	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs146071084	A>C,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs146384458	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs146543659	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs146817002	T>G	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs146880270	C>A,T	Pathogenic-likely-pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs147548697	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs147580966	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs147822019	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs148135406	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs148781346	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs148835707	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs149106712	A>G,T	Likely-benign, pathogenic	Synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs149428656	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs150199251	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs150239235	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs180719577	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant, genic downstream transcript variant
rs181284440	A>G	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs181399181	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, genic upstream transcript variant
rs181849614	T>C	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, missense variant, genic upstream transcript variant, initiator codon variant, genic downstream transcript variant, coding sequence variant
rs182575709	T>C,G	Likely-pathogenic, benign-likely-benign, pathogenic, uncertain-significance	Intron variant, genic upstream transcript variant
rs183643245	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, genic downstream transcript variant
rs189048508	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs191164314	C>G,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs199588981	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs199643655	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs199774535	G>A,C	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, stop gained, missense variant
rs200596739	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs200887855	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, missense variant, coding sequence variant, genic upstream transcript variant
rs200928985	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs201067368	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs201217593	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, stop gained, downstream transcript variant, genic downstream transcript variant
rs201262489	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, genic downstream transcript variant
rs201297190	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs201302282	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs201341211	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs201361100	G>A,C	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs201366610	G>A,C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, stop gained
rs201390145	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, genic downstream transcript variant
rs201718067	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs201818335	T>A,C,G	Uncertain-significance, pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs201919981	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs202090289	T>A,G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, genic downstream transcript variant
rs267606770	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs267606771	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs367757761	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs370644567	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs371035624	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs371648742	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs373286166	C>T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant
rs373428963	A>C,G	Uncertain-significance, pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs373703618	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs373804251	A>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs373832446	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs373907950	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs374222301	G>A,C	Uncertain-significance, pathogenic	Synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs374374549	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs374744331	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs374871728	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs376024929	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs377050013	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs377080659	A>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs377156960	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs377223643	G>C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs377412251	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs377587957	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs398122853	C>T	Pathogenic	Genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs398123827	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs398123828	C>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398123830	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123832	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs398123834	C>G,T	Pathogenic	Splice donor variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs398123835	->A	Pathogenic	Coding sequence variant, downstream transcript variant, intron variant, frameshift variant, genic downstream transcript variant
rs398123837	AG>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs398123839	A>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs398123840	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123844	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs398123846	C>T	Pathogenic	Intron variant, genic downstream transcript variant
rs398123848	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs398123852	G>A,C	Pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398123853	G>A,C,T	Pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398123854	->C	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123855	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs398123856	->CT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123857	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123859	->AT	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs398123861	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123862	C>A,G,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs398123863	GA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123865	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123866	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123867	G>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123870	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123872	G>A,C	Uncertain-significance, pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398123875	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123881	CTTTT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123882	ATGG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123883	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123884	C>G,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs398123887	C>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs398123888	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123889	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123895	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123901	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs398123902	C>G,T	Pathogenic	Genic upstream transcript variant, intron variant
rs398123903	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123908	C>A,G,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs398123909	C>A,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant
rs398123910	A>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123913	A>-	Pathogenic	Genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs398123915	T>A,C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs398123919	G>C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123920	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123923	C>A,G	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs398123929	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123931	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398123934	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant
rs398123935	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123936	C>T	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs398123937	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs398123938	T>C	Pathogenic	Genic upstream transcript variant, intron variant
rs398123942	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123943	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123945	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123946	TCCAAAG>CC	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123948	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123949	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123950	TT>-,T	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123952	C>A,G,T	Uncertain-significance, pathogenic-likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs398123953	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123954	G>A,C	Pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398123957	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123960	C>A,G,T	Uncertain-significance, pathogenic	Genic upstream transcript variant, intron variant
rs398123961	GA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123962	TCACT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123969	T>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123973	G>A,T	Pathogenic	Synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398123978	TG>AATGAATTCATTCAT	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123979	CTTT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123981	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398123985	T>C,G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs398123990	G>A	Pathogenic	Genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs398123991	G>A	Pathogenic	Genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs398123993	A>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398123994	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs398123997	C>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, downstream transcript variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs398123999	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs398124001	C>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124002	A>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs398124004	A>G,T	Pathogenic	Synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124005	G>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124006	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs398124008	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs398124012	GT>-,GTGT	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124032	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs398124034	CTT>-	Pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs398124036	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs398124040	T>-,TT	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs398124042	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs398124044	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs398124047	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, genic downstream transcript variant
rs398124050	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124051	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124052	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124053	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124055	C>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124058	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124059	T>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124060	AT>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124061	A>C	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124070	TT>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124072	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124074	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs398124075	AG>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124078	AG>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124080	T>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124081	AAAG>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124082	C>A,G	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs398124091	T>C	Likely-pathogenic, pathogenic	Intron variant, genic downstream transcript variant
rs398124092	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs398124094	C>G,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398124096	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs398124099	G>A	Likely-pathogenic, pathogenic	Genic upstream transcript variant, intron variant
rs398124100	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs398124103	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs398124105	CATCCAGTCT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs398124106	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs587776747	T>C	Likely-pathogenic, pathogenic	Intron variant, genic downstream transcript variant
rs727503802	C>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs727503815	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, genic downstream transcript variant
rs727503828	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs727503830	T>A	Pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs727503836	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs727503844	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs727503850	T>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs727503858	A>C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs727503864	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs727503865	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs745868830	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs746260475	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs746514008	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs747239076	T>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs747605156	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs747937552	G>A,T	Pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs747939733	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs748309027	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs748769566	G>A,C,T	Pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs750549006	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs750640802	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs751657094	A>G	Benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs752332058	CAAATCATCTGCC>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant, genic downstream transcript variant, 3 prime UTR variant
rs753509616	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs753594128	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs753662330	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs754308757	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs754896795	T>A,C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained, 5 prime UTR variant, genic downstream transcript variant
rs754997935	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs755206033	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs755438733	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs755445214	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs755452188	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs755686224	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs755815057	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs756160145	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs756949497	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs757394130	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs758404687	TACACA>-,TACACATACACA	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs758633794	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs759108067	G>A	Benign, likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs760097427	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs760733415	C>A,G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs760932600	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs762245872	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs762250680	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, stop gained
rs762394978	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant
rs762860653	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, stop gained
rs763936813	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, stop gained
rs764127932	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs764330616	A>G	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs765445866	C>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, stop gained
rs765950547	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs766075840	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant
rs766338928	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs766977775	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic upstream transcript variant, missense variant
rs767304770	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs768892830	G>A,C,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, stop gained
rs770148717	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs770183212	G>C,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs770845480	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant, stop gained, genic upstream transcript variant
rs771392678	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs771425504	T>A,C	Likely-benign, uncertain-significance, pathogenic, benign-likely-benign	Genic upstream transcript variant, coding sequence variant, missense variant, stop gained
rs771877780	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs772220893	->T	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs773123973	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, intron variant
rs773643220	G>A,T	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, stop gained
rs773779441	T>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs774626474	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs774722438	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs775659020	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs777864641	C>A,G,T	Pathogenic	Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, stop gained
rs778145106	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant
rs779739455	C>A,G	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs780278315	AAAG>-	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs786205603	G>A	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs794726993	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs794726994	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727030	T>A,C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs794727097	TGAG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727123	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs794727170	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs794727322	TT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727323	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs794727357	T>A,G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs794727358	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727359	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727421	AGAT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727422	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs794727463	T>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs794727499	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs794727550	T>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs794727567	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727575	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs794727661	T>-,TT	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727666	C>T	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, downstream transcript variant, stop gained, coding sequence variant
rs794727672	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727746	GG>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs794727749	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727763	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727770	T>A,G	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs794727795	AGCTCAGGAGAATC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727820	G>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs794727832	G>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs794727861	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs794727862	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727863	G>C,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs794727890	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs794729005	C>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs796065325	TT>A	Pathogenic	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs796065333	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs796523999	->A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs797044743	->CAAA	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs797044756	->A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs797044764	->A	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs797045526	C>A	Likely-pathogenic	Intron variant, genic downstream transcript variant, genic upstream transcript variant
rs863224975	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs863224976	A>C	Pathogenic	Stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs863224977	C>A	Pathogenic	Stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs863224978	T>-	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs863224979	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs863224980	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs863224981	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs863224982	C>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs863224983	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863224984	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863224985	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863224986	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs863224987	T>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863224988	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs863224989	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs863224990	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs863224991	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs863224992	G>A,C	Uncertain-significance, pathogenic	Synonymous variant, stop gained, coding sequence variant, genic upstream transcript variant
rs863224993	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863224994	CTTCCAC>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant, genic upstream transcript variant
rs863224995	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs863224996	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs863224997	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863224998	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863224999	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863225000	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs863225001	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs863225002	C>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs863225003	CTTT>-	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs863225004	G>A	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs863225005	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs863225006	ATCT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs863225007	TT>-,TTT	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs863225008	C>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs863225009	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs863225010	A>T	Pathogenic	Genic downstream transcript variant, splice donor variant, genic upstream transcript variant
rs863225011	G>A,C	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs863225012	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs863225013	A>G	Pathogenic	Genic downstream transcript variant, splice donor variant, genic upstream transcript variant
rs863225014	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs863225015	TTTG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs863225016	C>A,T	Likely-benign, pathogenic	Splice acceptor variant, genic upstream transcript variant
rs863225017	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs863225018	->TTAC	Pathogenic	Stop gained, inframe indel, genic downstream transcript variant, coding sequence variant
rs868688877	C>A,T	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs878854366	CT>-	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs878854383	G>A	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs878854618	G>A,C,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs878854619	C>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs878854621	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs886038537	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, genic upstream transcript variant
rs886039478	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs886039532	AATA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039533	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs886039534	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant, genic upstream transcript variant
rs886039535	T>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886039536	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886039663	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039681	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039785	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs886041344	G>C,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886041527	C>G	Pathogenic	Genic downstream transcript variant, splice donor variant, genic upstream transcript variant
rs886041629	TC>CCCCACTTTAAAGTTTCTTTAAAGTTTTCTTACACCTACATTTAAA	Pathogenic	Stop gained, inframe indel, genic downstream transcript variant, coding sequence variant
rs886041653	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886041802	T>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886042106	C>T	Pathogenic	Intron variant, genic upstream transcript variant
rs886042109	T>C	Likely-pathogenic	Intron variant, genic downstream transcript variant, genic upstream transcript variant
rs886042154	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886042347	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886042348	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886042351	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886042373	->CAGGCAA	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs886042437	TC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886042495	G>A,T	Pathogenic	Genic downstream transcript variant, intron variant, missense variant, stop gained, coding sequence variant
rs886042499	T>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886042604	C>A,G,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886042616	TTTCTTCTGTTTTTGTTAGCCA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886042618	A>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886042691	G>A	Pathogenic	Stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs886042747	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886042840	TCT>-	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs886042875	A>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886042983	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886043041	C>A	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs886043052	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043084	T>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs886043157	->GT	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043251	C>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886043288	->CCCTG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886043348	GACTTCA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043375	G>-,GG	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, frameshift variant, coding sequence variant
rs886043376	->G	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043428	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs886043456	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs886043496	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886043635	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886043640	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043676	G>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886043699	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043817	A>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886043822	A>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886043909	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886043989	C>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886044193	TC>-	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant
rs886044268	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs886044324	C>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs886044325	->GG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886044402	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886044406	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886044431	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886044440	->AG	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886044455	C>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886044490	TTTG>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs886044495	CCTTA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, 5 prime UTR variant, splice donor variant
rs886044500	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs886044501	C>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886044502	T>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886044582	C>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886044624	->T	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886044916	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs895755247	G>A,T	Pathogenic	Genic downstream transcript variant, intron variant, missense variant, stop gained, coding sequence variant
rs899851642	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs953271494	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1010666282	G>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, stop gained
rs1037540075	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs1055371114	G>A,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1057516028	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1057517960	C>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1057518207	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1057518284	CT>-,CTCT	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1057518692	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1057518834	C>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1057518866	A>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1057518962	C>A,G,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1057519180	->C	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1057520764	G>A	Pathogenic	5 prime UTR variant, downstream transcript variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1057522454	C>A,T	Likely-benign, pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1057524037	A>G,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1057524291	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1057524825	C>A,T	Pathogenic	Missense variant, downstream transcript variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1060502615	T>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1060502619	CC>TT	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1060502620	T>-	Pathogenic	5 prime UTR variant, genic downstream transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs1060502621	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1060502623	T>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1060502624	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060502625	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060502626	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1060502627	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1060502629	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1060502630	->TT	Pathogenic	Intron variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060502631	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs1060502632	CTTC>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1060502633	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1060502634	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1060502635	->T	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1060502636	C>G,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1060502637	C>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1060502639	G>A,C,T	Pathogenic	Missense variant, synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1060502640	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1060502641	A>G	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs1060502643	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1060502644	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1060502645	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1060502646	AAATTTGC>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs1060502647	GT>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1060502648	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060502652	CT>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1060502653	TCTACAAAGG>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant, genic downstream transcript variant
rs1060502656	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1060502659	GT>-	Pathogenic	5 prime UTR variant, genic downstream transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs1060502661	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1060504677	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs1060504680	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs1064792967	GGT>AAAC	Pathogenic	5 prime UTR variant, genic downstream transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs1064793479	CTCA>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1064793644	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064793742	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1064793964	C>A,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1064793986	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1064794569	C>G,T	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs1064796764	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, intron variant
rs1114167437	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1114167439	C>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, splice donor variant
rs1131691292	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1131691677	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1181271457	A>C,G	Pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs1209389771	C>A,T	Pathogenic, likely-benign	Genic upstream transcript variant, splice donor variant
rs1216000876	C>A,G,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1220963408	C>A,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1233380601	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs1239018406	C>A,G,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1254776844	A>G,T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, missense variant, stop gained, coding sequence variant
rs1280415176	A>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1295394996	C>A,T	Pathogenic, not-provided	Genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs1304218104	C>A,T	Pathogenic	Stop gained, 5 prime UTR variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs1339088514	G>A,C	Pathogenic	Missense variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1340365803	C>A,T	Pathogenic	Genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs1354256883	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1367385862	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs1385794215	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs1403865104	C>T	Pathogenic	Intron variant, genic upstream transcript variant
rs1425702864	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, synonymous variant, stop gained
rs1429329309	C>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, genic upstream transcript variant, coding sequence variant
rs1555998436	->C	Pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs1556024095	C>A	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs1556024147	C>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1556028034	T>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1556035795	A>-	Pathogenic	Intron variant, frameshift variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1556035817	ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA>-	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1556037429	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556040444	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1556046080	GGGCAGCCAC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556235825	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1556256329	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1556280638	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1556503937	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1556539065	A>C	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice donor variant
rs1556641290	->G	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556656077	C>A,G	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice donor variant
rs1556656184	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1556656298	T>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1556656456	->C	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556656487	G>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556656767	T>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1556656818	->A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556656847	G>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556656851	C>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1556656895	->CCTG	Likely-pathogenic	Intron variant, splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1556665052	C>T	Likely-pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice donor variant
rs1556665303	T>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1556669914	G>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556764743	C>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1556764753	T>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556764880	CAAGAAACTTTTCCAGG>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556764922	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1556764934	ATCTA>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556780579	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556780711	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556789913	C>A,T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice donor variant
rs1556790316	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1556802319	C>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1556802365	TTTTC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556806346	C>G	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1556806356	T>C	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1556809625	A>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1556809704	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556810362	->TTAC	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556834513	C>T	Likely-pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs1556852444	C>G	Likely-pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice donor variant
rs1556853022	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556853039	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556853298	T>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556875089	AAGGACTTACTTGCTTTGTTTTTCCATGCTAGCTACCC>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1556875224	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556876346	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556876421	->T	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556880327	->T	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1556880354	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1556917057	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1556929259	->T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556930579	G>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1556930769	A>C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556930839	->T	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556962223	C>A,T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice donor variant
rs1556962271	->AATG	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1556962326	CA>-	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1556962571	GGAAACCTGAAAGGAAA>-	Likely-pathogenic	Intron variant, splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1556980528	T>C	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs1557011872	AATT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1557011929	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1557011973	T>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1557038061	G>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1557038198	CA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1557047808	C>A	Pathogenic	Intron variant, genic upstream transcript variant
rs1557047827	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557047875	->CATG	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557052560	->GT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557052599	T>CC	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557052797	T>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1557058294	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1557058308	T>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1557058353	->T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1557058415	C>A	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1557079469	->C	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1557084067	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1557084128	->T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1557084280	T>A,C	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1557211730	A>T	Uncertain-significance, pathogenic	Intron variant, genic upstream transcript variant
rs1557218076	T>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1557218093	G>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1557218131	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1557218269	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1557272125	TG>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557290181	G>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557290355	C>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant, 5 prime UTR variant
rs1557291003	C>A	Pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1557291170	ATACCACTGATGAGAAATTTCTAGAGCC>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1557291229	T>A	Pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1557291242	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1557292599	C>T	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs1557292678	GTTTT>-	Pathogenic	Intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557294228	G>A	Pathogenic	Intron variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1557294296	->T	Pathogenic	Intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557294341	A>-	Pathogenic	Intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557300135	C>-	Pathogenic	Intron variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1557303381	CT>AC	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557303544	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557304860	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557305418	A>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557305645	GT>CA	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557315881	A>C	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1557315928	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557316295	T>C	Uncertain-significance, pathogenic	Intron variant, genic upstream transcript variant
rs1557320151	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557320194	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557322201	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557322834	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557322838	AT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557340452	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557357445	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557359155	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557359217	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557362198	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557365503	CT>GG	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1557369413	->CT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557369493	ACTGG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557369964	A>-	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1557369991	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557374482	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1557374667	C>-	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1557380496	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557380616	A>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557380670	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557380685	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557383751	->T	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557383761	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557396600	A>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1557396632	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1569139778	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, genic downstream transcript variant
rs1569140330	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1569169560	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569169736	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569186252	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1569213903	TT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569229528	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569230215	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569230293	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569230389	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569230406	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569273905	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569376447	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569401103	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant, genic downstream transcript variant
rs1569420861	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569427535	->AC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569451994	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1569452000	A>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1569460610	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569460722	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569463953	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569469138	TT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569469298	->GATGT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569515486	C>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1569516166	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1569526122	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs1569526156	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1569526579	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1569528090	AT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569528101	GTG>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, inframe deletion
rs1569528138	T>-,TT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569530432	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1569533147	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569533965	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1569546174	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1569546198	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1569547229	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1569555987	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1569556943	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1569556948	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1569558906	C>T	Pathogenic	Downstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1569558953	CTTTC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1569558964	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1569559097	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, intron variant
rs1569559106	TT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1569559110	->GTCTT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1569559198	CCCTGCTGAATTTCAGCCTCCA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1569559204	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, intron variant
rs1569559822	A>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1569559849	T>C	Pathogenic-likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1569560475	TT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569560477	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569560626	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569560739	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569561687	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569562466	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569562570	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569562573	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569562936	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569562941	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs1569562951	CT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice acceptor variant
rs1569562952	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1569563278	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569563678	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569563740	T>-,TT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569563751	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569564281	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569564916	T>A,G	Pathogenic, uncertain-significance	Genic upstream transcript variant, intron variant
rs1569565192	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1601808175	GAAGACTTGATAACATTTCATTTTGATCTTT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1601808288	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1601808296	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1601808326	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1601808412	->TTAA	Pathogenic	Coding sequence variant, genic upstream transcript variant, inframe indel, stop gained
rs1601808608	T>A,G	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs1601808932	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1601809011	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1601810456	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1601810667	->TCTT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1601864055	TC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1602056443	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1602145926	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1602146767	->AT	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602337330	CT>-	Pathogenic	Coding sequence variant, stop gained, intron variant, genic downstream transcript variant
rs1602338283	C>T	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1602360475	->AGCCT	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant, genic downstream transcript variant
rs1602369798	G>C	Pathogenic	Coding sequence variant, stop gained, intron variant, genic downstream transcript variant
rs1602409174	->C	Pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant, downstream transcript variant
rs1602416457	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1602417503	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1602451773	A>T	Pathogenic	Genic downstream transcript variant, intron variant
rs1602454605	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602454639	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1602454747	TT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602454895	->A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1602455302	TCTGTGCAGGACGGGCAGCCAC>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602455747	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602456486	T>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1602459252	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1602459861	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1602459951	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1602460062	->CA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1602467530	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1602467590	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1602467787	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1602468968	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1602469251	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1602469384	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1602669026	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602695527	C>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1602695597	->A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1602696519	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1602727611	A>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1602728959	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602730254	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1602765633	CAAACCATTCTTACC>-	Pathogenic	Coding sequence variant, splice donor variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1602765856	A>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1602766499	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1602766531	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1602766655	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1602766725	CTTTC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1602937725	TATACGGT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1602937974	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1602938385	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1602947628	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603137168	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603149954	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603150335	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603150993	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603151699	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603221854	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603222095	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603222424	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603222556	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603222574	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603222897	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603222922	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603223025	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603226023	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603253563	CT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603253605	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603264641	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603264659	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603264705	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603264731	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1603280598	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603280686	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603280745	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603280796	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603419074	C>-	Pathogenic	Genic upstream transcript variant, splice donor variant, intron variant
rs1603419076	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1603430178	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603430181	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603432059	->TA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603432076	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603437254	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603437272	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603441550	CATCTACGATGTC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1603441629	T>C	Pathogenic	Genic upstream transcript variant, intron variant
rs1603445277	A>T	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs1603445278	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs1603445283	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603445311	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603445332	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603445344	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603447057	->AT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1603447072	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, 5 prime UTR variant
rs1603447081	C>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1603452196	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603452200	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603452207	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603513680	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603513684	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1603513697	TTTCCAACTG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603513803	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1603513817	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1603513828	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603514271	C>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1603514272	T>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1603615883	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, genic downstream transcript variant
rs1603628479	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603628482	CT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603628483	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603628485	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603628487	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603629988	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603630431	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs1603631218	T>C	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, intron variant
rs1603631219	C>A	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs1603631225	->C	Pathogenic	Downstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1603631240	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1603631241	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1603631244	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1603631365	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1603631367	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1603631368	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1603631705	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603631744	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603631752	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603631756	CT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603631757	C>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1603632117	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603632119	TTCT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603632245	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603632246	->AT	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603632248	CACTC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603632309	ACTTCCTGTTCCACACT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603632311	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603632312	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603632314	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603632316	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603632322	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603632324	AGCC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603632326	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603633486	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603633541	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603633545	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603633860	->TA	Pathogenic, uncertain-significance	Genic upstream transcript variant, splice donor variant
rs1603633864	TCTT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603633867	CA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603633868	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603634079	TG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634105	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634199	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634203	AA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634206	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603634207	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634298	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603634299	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634603	C>G	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1603634604	CT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634607	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634608	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603634609	->T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634742	GGTGGGT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634743	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634744	TCTC>-,TC	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634745	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603634746	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603634747	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634748	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603634749	T>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1603635326	GCATAACCTACATTGACT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant, intron variant
rs1603635331	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1603635949	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603635950	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603635953	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603636515	ATTCCTGGAGGCAATACTACAAACTTCATGTCTCCAAAAGGCATTTCCTAAGTGCTACTTATCAGATGTCAGGTCTCAAGAAAACAAATTCCATGTACTTGTCTCAATATAGAGGAAATATTTGCCTAAAATCTATTGAATATGGAAGTGTATGCCTGTGCATTGAGCTATGAATTTTGAGTAAAGTTATTCCTTATAATGCCAGGCTATGTGGCAGAATATGTTAAATACTATTATATATAATGTTTATATCTT	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant, intron variant
rs1603636537	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603636541	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603636710	T>C	Likely-pathogenic	Genic upstream transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005060	hsa-let-7b-5p	Microarray	17699775
MIRT005456	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	21212803
MIRT020813	hsa-miR-155-5p	Proteomics	18668040
MIRT030888	hsa-miR-21-5p	Microarray	18591254
MIRT031761	hsa-miR-16-5p	Proteomics	18668040
MIRT538060	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT569179	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT569178	hsa-miR-3973	PAR-CLIP	20371350
MIRT569177	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT569176	hsa-miR-520h	PAR-CLIP	20371350
MIRT569175	hsa-miR-567	PAR-CLIP	20371350
MIRT569174	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT569173	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569172	hsa-miR-8068	PAR-CLIP	20371350
MIRT569171	hsa-miR-2052	PAR-CLIP	20371350
MIRT569170	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT569169	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT569168	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT569167	hsa-miR-297	PAR-CLIP	20371350
MIRT569166	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT569165	hsa-miR-147a	PAR-CLIP	20371350
MIRT569164	hsa-miR-2113	PAR-CLIP	20371350
MIRT569163	hsa-miR-5010-3p	PAR-CLIP	20371350
MIRT569162	hsa-miR-4455	PAR-CLIP	20371350
MIRT569161	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT569159	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT538060	hsa-miR-561-3p	PAR-CLIP	22012620
MIRT538059	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT538058	hsa-miR-4446-5p	PAR-CLIP	22012620
MIRT538060	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT569179	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT569178	hsa-miR-3973	PAR-CLIP	20371350
MIRT569177	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT569176	hsa-miR-520h	PAR-CLIP	20371350
MIRT569175	hsa-miR-567	PAR-CLIP	20371350
MIRT569174	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT569173	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569172	hsa-miR-8068	PAR-CLIP	20371350
MIRT569171	hsa-miR-2052	PAR-CLIP	20371350
MIRT569170	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT569169	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT569168	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT569167	hsa-miR-297	PAR-CLIP	20371350
MIRT569166	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT569165	hsa-miR-147a	PAR-CLIP	20371350
MIRT569164	hsa-miR-2113	PAR-CLIP	20371350
MIRT569163	hsa-miR-5010-3p	PAR-CLIP	20371350
MIRT569162	hsa-miR-4455	PAR-CLIP	20371350
MIRT569161	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT569159	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT538060	hsa-miR-561-3p	PAR-CLIP	22012620
MIRT538059	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT538058	hsa-miR-4446-5p	PAR-CLIP	22012620
MIRT939109	hsa-miR-370	CLIP-seq
MIRT939110	hsa-miR-1273g	CLIP-seq
MIRT939111	hsa-miR-3153	CLIP-seq
MIRT939112	hsa-miR-3679-3p	CLIP-seq
MIRT939113	hsa-miR-3688-5p	CLIP-seq
MIRT939114	hsa-miR-4668-5p	CLIP-seq
MIRT939115	hsa-miR-4677-3p	CLIP-seq
MIRT939116	hsa-miR-4796-3p	CLIP-seq
MIRT939117	hsa-miR-340	CLIP-seq
MIRT939118	hsa-miR-4705	CLIP-seq
MIRT939112	hsa-miR-3679-3p	CLIP-seq
MIRT939115	hsa-miR-4677-3p	CLIP-seq
MIRT939112	hsa-miR-3679-3p	CLIP-seq
MIRT939115	hsa-miR-4677-3p	CLIP-seq
MIRT2213169	hsa-miR-361-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SRF	Unknown	9032300

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IMP	19027585
GO:0002162	Function	Dystroglycan binding	IPI	7592992
GO:0003779	Function	Actin binding	IDA	16803572
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	12376554
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	3282674
GO:0005515	Function	Protein binding	IPI	7844150, 8576247, 9356463, 10747910, 10767429, 16000376, 16777071, 18468998, 19109891, 20530487, 21115837, 25416956, 25910212, 27225184, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	15149856
GO:0005634	Component	Nucleus	TAS	22105192
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	3282674
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	22105192
GO:0006936	Process	Muscle contraction	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007517	Process	Muscle organ development	NAS	1824797
GO:0007519	Process	Skeletal muscle tissue development	IBA
GO:0008104	Process	Intracellular protein localization	IMP	7545544
GO:0008270	Function	Zinc ion binding	IEA
GO:0008307	Function	Structural constituent of muscle	IDA	16000376
GO:0008307	Function	Structural constituent of muscle	TAS	3287171
GO:0009986	Component	Cell surface	IDA	10867799
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	20080623
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	20080623
GO:0010976	Process	Positive regulation of neuron projection development	IMP	15149856
GO:0014809	Process	Regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	ISS	19198614
GO:0014819	Process	Regulation of skeletal muscle contraction	ISS	19198614
GO:0015629	Component	Actin cytoskeleton	TAS	22105192
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IDA	17993586
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	NAS	7592992
GO:0016010	Component	Dystrophin-associated glycoprotein complex	TAS	8282811, 22105192
GO:0016013	Component	Syntrophin complex	TAS	21164104
GO:0016020	Component	Membrane	IEA
GO:0016328	Component	Lateral plasma membrane	TAS	21164104
GO:0017022	Function	Myosin binding	IDA	16803572
GO:0017166	Function	Vinculin binding	IEA
GO:0017166	Function	Vinculin binding	IPI	16803572
GO:0030016	Component	Myofibril	IEA
GO:0030018	Component	Z disc	ISS
GO:0030055	Component	Cell-substrate junction	ISS
GO:0030175	Component	Filopodium	IDA	16803572
GO:0031527	Component	Filopodium membrane	IDA	16803572
GO:0031527	Component	Filopodium membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0035994	Process	Response to muscle stretch	ISS
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IDA	7545544, 27225184
GO:0042383	Component	Sarcolemma	IEA
GO:0043034	Component	Costamere	IDA	16000376
GO:0043043	Process	Peptide biosynthetic process	IDA	16000376
GO:0044057	Process	Regulation of system process	IEA
GO:0044306	Component	Neuron projection terminus	ISS
GO:0044458	Process	Motile cilium assembly	TAS	22105192
GO:0045121	Component	Membrane raft	ISS
GO:0045121	Component	Membrane raft	TAS	22105192
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IMP	15149856
GO:0046716	Process	Muscle cell cellular homeostasis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048666	Process	Neuron development	IBA
GO:0050998	Function	Nitric-oxide synthase binding	ISS	7545544
GO:0055001	Process	Muscle cell development	IBA
GO:0055001	Process	Muscle cell development	ISS
GO:0060048	Process	Cardiac muscle contraction	IMP	19027585
GO:0065003	Process	Protein-containing complex assembly	ISS	19198614, 20080623
GO:0086001	Process	Cardiac muscle cell action potential	ISS	20080623, 21677768
GO:0090257	Process	Regulation of muscle system process	IBA
GO:0090287	Process	Regulation of cellular response to growth factor stimulus	IMP	15149856
GO:0099536	Process	Synaptic signaling	IBA
GO:1902305	Process	Regulation of sodium ion transmembrane transport	ISS	21677768
GO:1903169	Process	Regulation of calcium ion transmembrane transport	ISS	21677768

Other IDs

• MIM: 300377
• HGNC: 2928
• e!Ensembl: ENSG00000198947

Protein

• UniProt ID: P11532
• Protein name: Dystrophin
• Protein function: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peri
• PDB: 1DXX, 1EG3, 1EG4, 3UUN, 9D58
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	15 → 120	Calponin homology (CH) domain	Domain
  PF00307	CH	134 → 241	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	339 → 447	Spectrin repeat	Domain
  PF00435	Spectrin	448 → 556	Spectrin repeat	Domain
  PF00435	Spectrin	721 → 828	Spectrin repeat	Domain
  PF00435	Spectrin	830 → 934	Spectrin repeat	Domain
  PF00435	Spectrin	942 → 1045	Spectrin repeat	Domain
  PF00435	Spectrin	1048 → 1154	Spectrin repeat	Domain
  PF00435	Spectrin	1157 → 1263	Spectrin repeat	Domain
  PF00435	Spectrin	1571 → 1676	Spectrin repeat	Domain
  PF00435	Spectrin	1679 → 1778	Spectrin repeat	Domain
  PF00435	Spectrin	1877 → 1979	Spectrin repeat	Domain
  PF00435	Spectrin	1998 → 2100	Spectrin repeat	Domain
  PF00435	Spectrin	2104 → 2208	Spectrin repeat	Domain
  PF00435	Spectrin	2211 → 2318	Spectrin repeat	Domain
  PF00435	Spectrin	2471 → 2577	Spectrin repeat	Domain
  PF00435	Spectrin	2580 → 2686	Spectrin repeat	Domain
  PF00435	Spectrin	2689 → 2802	Spectrin repeat	Domain
  PF00435	Spectrin	2934 → 3040	Spectrin repeat	Domain
  PF00397	WW	3057 → 3086	WW domain	Domain
  PF09068	EF-hand_2	3089 → 3207	EF hand	Domain
  PF09069	EF-hand_3	3211 → 3302	EF-hand	Domain
  PF00569	ZZ	3307 → 3352	Zinc finger, ZZ type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Most tissues contain transcripts of multiple isoforms. Isoform 15: Only isoform to be detecte
• Sequence:

  MLWWEEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIENLFSDLQDGRRLLDLLEGLTGQ
  KLPKEKGSTRVHALNNVNKALRVLQNNNVDLVNIGSTDIVDGNHKLTLGLIWNIILHWQV
  KNVMKNIMAGLQQTNSEKILLSWVRQSTRNYPQVNVINFTTSWSDGLALNALIHSHRPDL
  FDWNSVVCQQSATQRLEHAFNIARYQLGIEKLLDPEDVDTTYPDKKSILMYITSLFQVLP
  QQVSIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITVSLAQGYERTSSPKPRFKSYA
  YTQAAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEEVLSWLLSAED
  TLQAQGEISNDVEVVKDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEV
  QEQMNLLNSRWECLRVASMEKQSNLHRVLMDLQNQKLKELNDWLTKTEERTRKMEEEPLG
  PDLEDLKRQVQQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHATAALEEQLKVLGDRW
  ANICRWTEDRWVLLQDILLKWQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSL
  QKLAVLKADLEKKKQSMGKLYSLKQDLLSTLKNKSVTQKTEAWLDNFARCWDNLVQKLEK
  STAQISQAVTTTQPSLTQTTVMETVTTVTTREQILVKHAQEELPPPPPQKKRQITVDSEI
  RKRLDVDITELHSWITRSEAVLQSPEFAIFRKEGNFSDLKEKVNAIEREKAEKFRKLQDA
  SRSAQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNWLEYQNNIIAFYNQLQ
  QLEQMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSDLQPQIERLKIQSIALKEK
  GQGPMFLDADFVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSET
  KLSIPQLSVTDYEIMEQRLGELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQS
  EFEEIEGRWKKLSSQLVEHCQKLEEQMNKLRKIQNHIQTLKKWMAEVDVFLKEEWPALGD
  SEILKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAEPEFASRLETELKELNTQWDH
  MCQQVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTPDELQKAVEEM
  KRAKEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKT
  LEEVWACWHELLSYLEKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNP
  NQIRILAQTLTDGGVMDELINEELETFNSRWRELHEEAVRRQKLLEQSIQSAQETEKSLH
  LIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRV
  LSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQS
  QLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVT
  ERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKE
  IEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKH
  METFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAAN
  LMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAE
  IQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNA
  LKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQ
  KKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREE
  TMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKN
  IKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFD
  RSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVR
  TLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDL
  NEFVLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVS
  APISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHL
  LLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVK
  RKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLE
  MPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDL
  EQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLK
  DSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVA
  NDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEK
  FLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQ
  KILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVW
  LQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEG
  LEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLQELQ
  EATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLAR
  QLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGP
  WERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALC
  LDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLN
  WLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHD
  SIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHR
  VAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYC
  TPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDS
  APASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLN
  QDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLP
  SPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQP
  QAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVM
  EQLNNSFPSSRGRNTPGKPMREDTM

• Sequence length: 3685

Pathways

KEGG:

Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

Reactome:

Striated Muscle Contraction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal muscle fiber dystrophin expression	Pathogenic	rs1557315928	RCV000626857	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the musculature	Pathogenic; Likely pathogenic	rs398123832, rs398123872, rs398123912, rs398124067, rs2148184147, rs2149257286, rs2147176710, rs764789298, rs1225638867, rs2147557663, rs2148419527, rs2148583763, rs2042975774, rs2148691292, rs2146821542, rs2146833477, rs794727323, rs104894790, rs886042604, rs1557374667, rs1569563678, rs2065150560	RCV001814051 RCV001814052 RCV001814053 RCV001814054 RCV001814370 RCV001814545 RCV001814527 RCV001814529 RCV001814332 RCV001814337 RCV001814469 RCV001814575 RCV001814371 RCV001814489 RCV001814418 RCV001814540 RCV001814089 RCV001813973 RCV001814144 RCV001836847 RCV001814224 RCV001814298	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acute myeloid leukemia	Pathogenic	rs146071084	RCV005886451	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute rhabdomyolysis	Pathogenic	rs398123908	RCV005865230	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect	Pathogenic	rs886042604	RCV000626859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Becker muscular dystrophy	Pathogenic; Likely pathogenic	rs398123827, rs398123832, rs398123838, rs398123839, rs398123863, rs398123865, rs398123881, rs398123923, rs398123929, rs398123935, rs398123953, rs398123954, rs398123973, rs398123981, rs398123985, rs1064325, rs398123999, rs398124002, rs398124033, rs398124034, rs398124050, rs398124074, rs398124082, rs398124092, rs398124094, rs398124099, rs398124105, rs2148280837, rs2147076500, rs2148751467, rs2148751523, rs764789298, rs2148428395, rs2147755143, rs2146992010, rs2148485357, rs2147649257, rs2148492200, rs868836192, rs865856945, rs781054741, rs2148733515, rs2149350253, rs763844939, rs1557380616, rs2148456401, rs1557315881, rs2148732436, rs2148807584, rs2147605826, rs794727123, rs2148584710, rs2080510348, rs2149265022, rs2148422718, rs2149256957, rs776457078, rs745585519, rs2148348451, rs2147935387, rs2147560185, rs1603631757, rs2147071577, rs2148813707, rs2065154326, rs2147921052, rs2147613866, rs1474837238, rs2147934458, rs2148290176, rs2148333619, rs2148334397, rs2148335170, rs1602456486, rs398124103, rs2148563899, rs2148564018, rs2148591514, rs2148593122, rs2147071925, rs2147648412, rs2147648529, rs2148296981, rs2147075923, rs2147176325, rs2148421809, rs2148423696, rs1556806356, rs2149424269, rs2149680248, rs1557010214, rs2150187643, rs2150188102, rs2147031776, rs2147252708, rs2147253701, rs2147261153, rs2147470742, rs2147472174, rs2147613101, rs2147621477, rs2148193225, rs2148194212, rs2148631657, rs2148691516, rs2148691727, rs2148804513, rs2149094788, rs2149095319, rs2149095626, rs2149264374, rs1234153462, rs2146833198, rs2147605245, rs2148750700, rs2148984206, rs2534077244, rs727503864, rs2521958055, rs2519183618, rs2524538544, rs2522915885, rs2521812764, rs141261536, rs2521425675, rs2522499933, rs2526587221, rs369648601, rs2524074950, rs2520024317, rs2147648482, rs2059701389, rs2524610436, rs2522569580, rs2520021065, rs1283306727, rs2149138024, rs2519910949, rs2519910699, rs2519918676, rs796065325, rs794726993, rs794727661, rs794727666, rs2534072629, rs797045526, rs863225015, rs863225012, rs863225001, rs779739455, rs2519219632, rs886039478, rs886039536, rs128625229, rs104894787, rs128626235, rs1569564916, rs1569546198, rs128626236, rs128626233, rs128626237, rs1556834513, rs104894790, rs2148183751, rs267606771, rs104894797, rs5030730, rs587776747, rs128627256, rs886042106, rs886042840, rs886042983, rs886043041, rs763936813, rs886043640, rs748769566, rs72468626, rs2148427081, rs886044406, rs2149139061, rs2063781031, rs199783662, rs2521067796, rs2525247936, rs2519115447, rs2523045606, rs2520022878, rs2523041143, rs2519446696, rs2520265920, rs1057518962, rs398122853, rs1060502639, rs1060502619, rs1064796764, rs753662330, rs1425702864, rs1557292599, rs398123909, rs182575709, rs1556880354, rs1557047827, rs796523999, rs886043375, rs1556875224, rs1556852444, rs1569559106, rs1569562941, rs1569558953, rs1569559204, rs1569560475, rs1569563740, rs72466562, rs1602169535, rs1601809011, rs1603631244, rs1603631752, rs1603632322, rs1603636537, rs376745644, rs2093885666, rs1295935628, rs767387334, rs1302764635, rs1335666832, rs2040709857, rs745640786, rs754333675, rs2036842297, rs2043796525, rs2044453958, rs2065150560, rs2068034053, rs2069915167, rs2071051447, rs2080887929, rs2082254429, rs2097114467, rs773372553, rs2097447879, rs1178785582, rs2097746958, rs2097747388, rs79541196, rs2097848034, rs868267519, rs2097849676, rs2097849830, rs2097958107, rs2097958158, rs2097986340, rs2097990454, rs2098280321, rs750349613, rs770934386, rs2098349366, rs398123919, rs1040401556, rs767698069, rs2055461260, rs774163062, rs2094828872	RCV001831824 RCV000763209 RCV005042597 RCV003483470 RCV001831830 RCV004796006 RCV001826733 RCV006257269 RCV000763210 RCV000176552 RCV001831852 RCV003466992 RCV001831854 RCV001826753 RCV004575829 RCV001831858 RCV002498417 RCV002247478 RCV002503270 RCV005252742 RCV001835679 RCV001831875 RCV004575826 RCV001826766 RCV001831880 RCV002247479 RCV000583821 RCV001826171 RCV001831388 RCV002246378 RCV001826163 RCV006257337 RCV001832750 RCV002471139 RCV001775054 RCV002246486 RCV002246487 RCV002246488 RCV004796658 RCV004796900 RCV002246489 RCV002246490 RCV002503263 RCV002246491 RCV002246492 RCV002246493 RCV004819271 RCV003466208 RCV002246494 RCV002246495 RCV002471158 RCV004796831 RCV002246496 RCV002254357 RCV005041767 RCV001843311 RCV005051470 RCV001799532 RCV003466207 RCV002246497 RCV002471163 RCV005040387 RCV002307795 RCV002246562 RCV002307804 RCV004571936 RCV002307797 RCV002249026 RCV002249863 RCV002249864 RCV002249868 RCV002249869 RCV002249870 RCV002249871 RCV002249872 RCV002249873 RCV002249874 RCV002249875 RCV002249876 RCV002249878 RCV002249879 RCV002249880 RCV002249881 RCV002249882 RCV002249883 RCV002249884 RCV002249886 RCV002249887 RCV002249888 RCV002249889 RCV002249890 RCV002249891 RCV002249892 RCV002249894 RCV002249895 RCV002249896 RCV002249897 RCV002249898 RCV002249900 RCV002249901 RCV002249902 RCV002249903 RCV002249904 RCV002249905 RCV002249906 RCV002249907 RCV002249908 RCV002249909 RCV002249910 RCV002249911 RCV002249912 RCV002249913 RCV002249914 RCV002249915 RCV002249916 RCV002249917 RCV004527445 RCV002470775 RCV002306735 RCV002306738 RCV002306799 RCV002306814 RCV002309572 RCV002309981 RCV002307955 RCV002308054 RCV002308089 RCV002308298 RCV002309175 RCV002309200 RCV002309204 RCV002309210 RCV002309435 RCV002306826 RCV002310280 RCV002310314 RCV002310538 RCV002471242 RCV002471245 RCV002471246 RCV003465962 RCV003512019 RCV000984160 RCV001832024 RCV002250590 RCV003147785 RCV005042411 RCV001833163 RCV001828037 RCV003468913 RCV000582216 RCV003223365 RCV001828170 RCV001833300 RCV001831560 RCV000180033 RCV005049333 RCV000011977 RCV000011978 RCV000011981 RCV001831561 RCV000011992 RCV000012000 RCV001835626 RCV000012028 RCV000012031 RCV001831564 RCV000012034 RCV000012038 RCV000515392 RCV001828175 RCV000395439 RCV004796150 RCV001833346 RCV003469235 RCV001833375 RCV004796155 RCV005254760 RCV003326096 RCV004796156 RCV003466205 RCV003466206 RCV003459976 RCV003459977 RCV003466210 RCV003466211 RCV005100355 RCV004575827 RCV004575828 RCV004586403 RCV004594746 RCV004796172 RCV000022854 RCV001833585 RCV002496775 RCV003464037 RCV003470640 RCV001834661 RCV001829465 RCV000984158 RCV000012039 RCV000581374 RCV000582450 RCV000584217 RCV004788004 RCV000595095 RCV001254066 RCV002249388 RCV005411538 RCV005629573 RCV003465656 RCV001825446 RCV002249442 RCV002249445 RCV001830629 RCV001264103 RCV002249505 RCV002290455 RCV001263658 RCV001263946 RCV004596384 RCV004798878 RCV003462582 RCV005863383 RCV002249793 RCV002249797 RCV001264117 RCV002249807 RCV001828804 RCV004796395 RCV001264099 RCV001264100 RCV001264101 RCV001264102 RCV001264104 RCV001264223 RCV001264224 RCV001264225 RCV001264226 RCV001264227 RCV001264228 RCV001264229 RCV001264230 RCV001263655 RCV001263656 RCV001263657 RCV001263659 RCV001263660 RCV001263661 RCV001263662 RCV001263947 RCV001263948 RCV001263949 RCV001263950 RCV001263951 RCV001263952 RCV001263953 RCV001264113 RCV001264114 RCV001264115 RCV001264116 RCV001264118 RCV001264119 RCV001264120 RCV001835379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Pathogenic; Likely pathogenic	rs2148807584, rs776457078, rs2149139061, rs2147033447, rs2149264484, rs128626241, rs2519911698, rs1569558906, rs1603634608, rs1602409174, rs2097849830	RCV005614675 RCV005618373 RCV005613393 RCV005613254 RCV005614707 RCV005614369 RCV005616664 RCV005614444 RCV005614453 RCV005614477 RCV005614508	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Calf muscle hypertrophy	Pathogenic	rs886043676, rs1557315928	RCV000626855 RCV000626857	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs398123827, rs398123863, rs398123881, rs398123923, rs398123953, rs398123973, rs398123981, rs1064325, rs398124050, rs398124074, rs398124092, rs398124094, rs2148280837, rs2147076500, rs2148751523, rs2148428395, rs794726993, rs794727661, rs863225015, rs863225012, rs886039478, rs886039536, rs128625229, rs104894787, rs128626233, rs104894790, rs104894797, rs886042106, rs886043041, rs886043640, rs1060502639, rs1425702864, rs1557292599, rs1569559204, rs2040709857, rs2094828872	RCV001831824 RCV001831830 RCV001826733 RCV001831841 RCV001831852 RCV001831854 RCV001826753 RCV001831858 RCV001835679 RCV001831875 RCV001826766 RCV001831880 RCV001826171 RCV001831388 RCV001826163 RCV001832750 RCV001826873 RCV001832024 RCV001833163 RCV001828037 RCV001828170 RCV001833300 RCV001831560 RCV001826457 RCV001831561 RCV001835626 RCV001831564 RCV001828175 RCV001833346 RCV001833375 RCV001833585 RCV001834661 RCV001829465 RCV001825446 RCV001830629 RCV001828804 RCV001835379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs398123832, rs398123834, rs398123923, rs398124049, rs2147076500, rs2148850223, rs2148457829, rs2148803919, rs1557058294, rs1569469138, rs2521104156, rs863224999, rs794727357, rs2519059881, rs886039533, rs128626249, rs5030730, rs886042106, rs886044455, rs1057520764, rs1064793964, rs182575709, rs1557038061, rs1556930579, rs1569530432, rs1569563751	RCV005809218 RCV005549909 RCV002321576 RCV004516429 RCV002447512 RCV003346731 RCV005405752 RCV005822424 RCV002454998 RCV002409809 RCV002447962 RCV002336547 RCV006342173 RCV003176874 RCV005549933 RCV002354155 RCV005403718 RCV002321946 RCV005328238 RCV000620663 RCV002455918 RCV002341259 RCV002368009 RCV002368028 RCV002325205 RCV003303125 RCV002442551	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Color vision defect	Pathogenic	rs886042604	RCV002463458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs1064325, rs753288164, rs2040714896, rs1601808932	RCV005886453 RCV001293849 RCV001293823 RCV001293824	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 3B	Pathogenic; Likely pathogenic	rs398123828, rs398123832, rs398123838, rs398123839, rs398123865, rs398123923, rs398123929, rs398123981, rs1064325, rs398123999, rs398124033, rs773779441, rs764789298, rs2147473202, rs868836192, rs865856945, rs2149350253, rs2148584710, rs2148422718, rs776457078, rs1603631757, rs794726993, rs2534072629, rs797045526, rs863224999, rs104894787, rs128626235, rs104894797, rs128627256, rs886042840, rs886042983, rs748769566, rs1057518962, rs1057518834, rs398122853, rs1060502639, rs1060502619, rs398123909, rs886042604, rs1569559106, rs1603222556, rs2040821014, rs2041040360, rs2097987064, rs2093885666	RCV001196295 RCV000763209 RCV005042597 RCV001198843 RCV004796006 RCV000080542 RCV000763210 RCV001198765 RCV004796007 RCV002498417 RCV002503270 RCV002471105 RCV006257337 RCV001706826 RCV004796658 RCV004796900 RCV002503263 RCV004796831 RCV005041767 RCV005051470 RCV005040387 RCV000984161 RCV003147786 RCV005042411 RCV003997034 RCV005042033 RCV005049333 RCV000150055 RCV000515392 RCV002503990 RCV004796150 RCV004796155 RCV001198405 RCV001196241 RCV000984166 RCV005044685 RCV002496775 RCV000984159 RCV001199236 RCV005411538 RCV000850233 RCV001198016 RCV001199028 RCV001196073 RCV005863383	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DMD-related disorder	Pathogenic; Likely pathogenic	rs398123905, rs398124074, rs2148691779, rs2148603634, rs727503864, rs2524245571, rs182575709, rs398123923	RCV005250016 RCV004528291 RCV004531554 RCV004738383 RCV004724933 RCV004542687 RCV004537895 RCV005870709	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Duchenne and Becker muscular dystrophy	Pathogenic; Likely pathogenic	rs794727661, rs2525328671, rs1556930579	RCV003225932 RCV003226115 RCV003225950	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duchenne muscular dystrophy	Pathogenic; Likely pathogenic	rs398123827, rs398123828, rs398123832, rs398123833, rs398123834, rs398123835, rs398123838, rs398123839, rs398123846, rs398123852, rs398123853, rs72468700, rs398123856, rs398123862, rs398123863, rs398123865, rs398123866, rs398123870, rs398123872, rs398123873, rs398123881, rs398123882, rs398123883, rs398123884, rs398123885, rs398123887, rs398123888, rs398123889, rs398123892, rs398123893, rs398123901, rs398123903, rs398123905, rs398123909, rs398123912, rs398123915, rs398123919, rs398123920, rs398123923, rs398123929, rs398123934, rs398123935, rs398123937, rs398123938, rs398123942, rs146071084, rs398123948, rs398123950, rs398123952, rs398123953, rs398123957, rs398123960, rs398123962, rs398123963, rs398123970, rs398123971, rs398123973, rs398123977, rs398123979, rs398123980, rs398123981, rs398123990, rs1064325, rs398123991, rs398123997, rs398123999, rs398124003, rs398124007, rs398124008, rs398124012, rs398124033, rs398124034, rs398124036, rs398124038, rs398124039, rs398124040, rs398124042, rs398124044, rs398124050, rs398124051, rs398124055, rs398124058, rs398124060, rs398124062, rs398124068, rs398124070, rs398124072, rs398124073, rs398124074, rs398124075, rs398124078, rs398124091, rs398124092, rs398124094, rs398124096, rs398124099, rs398124104, rs398124105, rs2149136134, rs2147649643, rs1556503812, rs2148418008, rs2146836134, rs398124067, rs2147934840, rs2148184732, rs2148280837, rs2148311910, rs2148564212, rs2148591945, rs1060502628, rs2149252891, rs761750882, rs753225356, rs2147076330, rs2147076500, rs2148732716, rs2148734269, rs2149244988, rs1603514272, rs2149989620, rs2150001671, rs2095369359, rs2150187539, rs2148456690, rs878911532, rs1386485242, rs2147261270, rs2097920711, rs2147610382, rs2147612526, rs2147613231, rs2147935042, rs2147935442, rs2148287711, rs1263708289, rs2148418171, rs2148459492, rs1472308773, rs2148484887, rs2148582421, rs2148582964, rs2148583804, rs2148630465, rs2148631382, rs2148631503, rs2148691015, rs2149094471, rs1057518312, rs2149137069, rs2149138125, rs773779441, rs2149349423, rs2149350038, rs2149350194, rs2149350435, rs2146820376, rs2146822662, rs2147604088, rs2147606440, rs2148751467, rs2148751523, rs2148807197, rs2148807631, rs2149015246, rs1603448428, rs764789298, rs2042975774, rs2148428395, rs1556040444, rs2147473202, rs2147755143, rs2148850769, rs2146834557, rs2146834581, rs2149095456, rs2148805010, rs2148691771, rs2148419679, rs868836192, rs865856945, rs2148421666, rs2147177872, rs2148335739, rs2148849959, rs2147603245, rs2146821938, rs2146821257, rs1357942538, rs2149350253, rs2147604940, rs778171516, rs2147581521, rs374577724, rs1057518207, rs1060502627, rs2148691615, rs1338930949, rs1557380616, rs2148459016, rs2148418069, rs2148289012, rs2147064556, rs2148460570, rs2097753394, rs2149679784, rs2149245072, rs2150001373, rs2148491730, rs2148349819, rs2148812748, rs2148457829, rs2147033447, rs2150187018, rs2149254230, rs771509836, rs2148297423, rs1602456175, rs1557359192, rs2146821137, rs2149136473, rs794727123, rs1557396600, rs398123886, rs2148959323, rs2148584710, rs2149015656, rs1569562933, rs2147610804, rs2148349944, rs779485493, rs2147472674, rs2147613652, rs2148310866, rs1603448406, rs1569526579, rs2149265022, rs2149349537, rs865974846, rs2148348645, rs1557374482, rs2148419974, rs1340785309, rs2148456625, rs2149680574, rs2148334279, rs2148422718, rs2147076359, rs2149018402, rs2149253473, rs2149075577, rs2147075563, rs2147605585, rs776457078, rs2051634469, rs128626244, rs2148630419, rs72468667, rs2148428124, rs745585519, rs2148427138, rs2147470500, rs1085307535, rs2147234195, rs2147258786, rs1060502643, rs2148456727, rs2147865360, rs2149244826, rs2148592023, rs2148541048, rs2148297581, rs2147063753, rs2147560185, rs2148603634, rs1557047808, rs1603631757, rs2148423696, rs2149493164, rs778367724, rs2148427910, rs2097848034, rs2148632518, rs2148850492, rs2149350070, rs2150186856, rs2148287085, rs1602338283, rs2148290255, rs2149264484, rs2148288724, rs2071057426, rs2148750934, rs2149015783, rs2149015763, rs2147233083, rs2147253222, rs2147071577, rs2149017933, rs1220757614, rs2148750599, rs2148592682, rs2148460313, rs2148428193, rs2148582821, rs2148807456, rs2149350164, rs2147865476, rs2149350132, rs2149137188, rs2148288214, rs2148460867, rs2148960326, rs2148184058, rs886039534, rs2147071440, rs2148193045, rs2148458912, rs2148813707, rs2147471723, rs2065154326, rs2149424713, rs1556539065, rs2147071947, rs2148596228, rs2147032028, rs372135475, rs863224982, rs2149018666, rs2146991715, rs2148591114, rs2148563935, rs2148290349, rs2149257310, rs2148183611, rs2147177179, rs2149018213, rs2148540742, rs2148984299, rs2148632453, rs1569213903, rs2148540548, rs2146989498, rs2148485378, rs2149679978, rs2148807947, rs2148348431, rs2148485744, rs2147755217, rs2148457026, rs2148807654, rs2148959744, rs2147613901, rs2149989683, rs2146821772, rs794727322, rs2147933949, rs2147621084, rs1569460610, rs2147175548, rs2148348931, rs2149245287, rs1057518866, rs2148419938, rs2148280872, rs2148805788, rs2148541841, rs2147610488, rs2147921886, rs2148421651, rs1060502656, rs398123985, rs2147033060, rs2147620247, rs2149018065, rs2148850505, rs2149349862, rs2148615195, rs753006232, rs2149680612, rs2147921052, rs398123854, rs2148427870, rs2147612475, rs1602469384, rs2147613866, rs2147936347, rs2148193545, rs2149244412, rs2147558029, rs2148733074, rs2148630350, rs1569460607, rs2148332252, rs2149679899, rs2148291755, rs2148485071, rs2149253335, rs2147648996, rs2149257421, rs2147472734, rs2063903818, rs2146991528, rs2147649419, rs2148806096, rs199774535, rs746082869, rs2148750714, rs1474837238, rs2148421809, rs2147605245, rs2148750700, rs2147076595, rs2524323517, rs2520271176, rs2148630194, rs2524517271, rs2534077244, rs886042618, rs2521864082, rs2524368407, rs2533419663, rs727503850, rs727503802, rs727503864, rs2521812360, rs2148485357, rs2521958055, rs2519183618, rs2524538544, rs2522915885, rs2521812764, rs141261536, rs2521425675, rs2522499933, rs2526587221, rs369648601, rs2524074950, rs2520024317, rs2147648482, rs2059701389, rs2524610436, rs2522569580, rs2520021065, rs1283306727, rs1557058294, rs2521104156, rs2525325352, rs2524949516, rs2521105726, rs2521105410, rs2519655360, rs2519182359, rs2526751018, rs2525541080, rs2525049882, rs2524852698, rs2524911784, rs2524916271, rs2524610786, rs2524513732, rs2524515692, rs2524070901, rs1347208359, rs2523119063, rs2522568739, rs2522063583, rs2521868351, rs2524324196, rs2520267733, rs2519921731, rs2519922410, rs2519058491, rs1420885213, rs2530843052, rs2529175801, rs2525294459, rs2524523366, rs2521432169, rs2521253235, rs2521251058, rs2520411944, rs2519974595, rs2521364194, rs2068041236, rs863225013, rs2524678480, rs2523136075, rs2519918676, rs794726993, rs1422155550, rs794727030, rs794727357, rs794727359, rs794727422, rs794727463, rs794727499, rs1602695527, rs794727661, rs794727666, rs797044764, rs201361100, rs796065333, rs794727862, rs794727890, rs373286166, rs2531584092, rs2519446696, rs2534072629, rs2148287624, rs2519634487, rs2525047957, rs2519148962, rs2524328004, rs2521424016, rs2530842766, rs1557011929, rs2519633211, rs2522551518, rs2520268054, rs2532456946, rs2521959731, rs2526095742, rs2532453077, rs2524367671, rs2481306701, rs2533456610, rs2525049931, rs2519777723, rs398123939, rs2524244122, rs2519922156, rs2524123917, rs2522056044, rs1569469298, rs2530839937, rs2148333619, rs2520267118, rs2524245428, rs2529174642, rs2522565997, rs2524853993, rs2524536489, rs2524516123, rs2530032498, rs2532455962, rs1569563740, rs797045526, rs2523040871, rs2528279313, rs2524327169, rs2524537401, rs2521063915, rs886043133, rs1556656077, rs2521249957, rs2521812104, rs2524189062, rs2531880879, rs2519937826, rs2098391032, rs2522912867, rs2524952602, rs146880270, rs2521973024, rs863224977, rs863224976, rs863224975, rs863225018, rs863225017, rs863225015, rs863225014, rs863225012, rs863225011, rs863225010, rs863225009, rs762394978, rs863225008, rs863225007, rs863225006, rs863225005, rs863225004, rs863225003, rs863225002, rs777864641, rs863225001, rs863225000, rs863224999, rs863224998, rs863224997, rs863224994, rs863224993, rs863224992, rs756949497, rs863224988, rs863224987, rs863224986, rs762860653, rs863224985, rs863224984, rs863224983, rs863224981, rs863224980, rs863224979, rs863224978, rs863224996, rs863224995, rs863224991, rs863224990, rs863224989, rs2528280263, rs2524515643, rs2524617089, rs2525547933, rs2533417349, rs748811241, rs2524075262, rs398124004, rs2525544932, rs2524912315, rs2530821984, rs2519778144, rs765753641, rs1556962223, rs2520023450, rs2525736683, rs2525294536, rs2531583528, rs2524326208, rs2521424312, rs2148750854, rs2532455371, rs748567438, rs2522056967, rs878854366, rs779739455, rs2522566050, rs1060502634, rs2524349168, rs2525544478, rs2528279555, rs2524951543, rs2526095429, rs878854621, rs770845480, rs762250680, rs878854619, rs878854618, rs2524074680, rs2522553272, rs2523118310, rs886039681, rs886039532, rs886039478, rs886039535, rs886039536, rs886039785, rs128625226, rs128625227, rs128625228, rs128625229, rs104894787, rs2149350391, rs2149679748, rs128625230, rs128626234, rs201366610, rs2148690952, rs267606770, rs128626235, rs128626231, rs2148805979, rs128626232, rs104894788, rs128626233, rs2148984775, rs128626238, rs128626239, rs2147604021, rs128626240, rs128626241, rs1556834513, rs128626242, rs128626243, rs2148690745, rs2148583439, rs128626245, rs128626246, rs128626247, rs128626248, rs128626249, rs2148457196, rs128626250, rs128626251, rs2149990101, rs128626252, rs128626253, rs128626254, rs104894790, rs2148290176, rs2148183552, rs104894797, rs5030730, rs1569528138, rs2147865582, rs587776747, rs128627256, rs128627257, rs886041344, rs886042106, rs886042154, rs886042495, rs886042499, rs886042604, rs886042747, rs886042840, rs886042875, rs398124032, rs886042983, rs886043041, rs886043084, rs763936813, rs886043251, rs886043375, rs886043496, rs886043640, rs886043676, rs886043699, rs886043822, rs886043909, rs886043989, rs748769566, rs2524677741, rs2524537067, rs2524127909, rs886044324, rs886044402, rs886044455, rs886044490, rs886044502, rs2525047217, rs886044582, rs2097849676, rs1454477626, rs2520023216, rs2521958710, rs2521976752, rs189143447, rs2524365256, rs2523043513, rs2520268144, rs2526757763, rs2532455487, rs2525730822, rs2533460550, rs2519911698, rs2528278346, rs2040714340, rs2522089740, rs2521959483, rs2523045606, rs2524613968, rs2525548207, rs2519057505, rs2522567971, rs2522551580, rs2521198322, rs2519653280, rs2521100430, rs2524515927, rs2531583251, rs2533415616, rs2521199896, rs2524243178, rs2526093455, rs2523599050, rs2525295490, rs2519058015, rs2530838642, rs2525547635, rs2525050898, rs2534074216, rs2522062932, rs2521867689, rs2532456896, rs2046260727, rs2521179205, rs2519909386, rs2529175355, rs2528806737, rs765986138, rs2520268676, rs2520422732, rs2526758787, rs2524124161, rs2519633348, rs2525968808, rs2519147078, rs2526095691, rs2523119325, rs2519180310, rs2522565802, rs2043792360, rs2523041411, rs2519909751, rs762379765, rs2519148209, rs2524323724, rs2520266428, rs2530840643, rs2524674757, rs2525327368, rs2148297268, rs2530843714, rs779517657, rs2524458148, rs2519972989, rs2524537821, rs2520268337, rs2523043841, rs2097958789, rs2521960553, rs1603514271, rs2523116359, rs1057518962, rs1057518692, rs1057520764, rs398122853, rs1556641290, rs1060502653, rs1064792968, rs1060502624, rs1060502621, rs765445866, rs1060502645, rs1064792967, rs1060502659, rs1060502620, rs1060502641, rs1060502639, rs1060502636, rs1060502661, rs1060502635, rs1060502629, rs1060502644, rs72470513, rs1557079469, rs1060502626, rs1060502625, rs1060502630, rs1057524037, rs1060502633, rs1060502648, rs1060502619, rs1060502646, rs1060502623, rs1060502632, rs1060502640, rs1557380496, rs1060502647, rs1060502637, rs1060502615, rs1557084128, rs1060502652, rs1064794569, rs1064793479, rs1064793986, rs1064793964, rs1556665303, rs753662330, rs1556790316, rs1556656184, rs1556764743, rs1556764753, rs1556806356, rs1425702864, rs773643220, rs1557292599, rs1556875180, rs1340365803, rs1556656851, rs1557316295, rs1556046080, rs1556256329, rs1556656487, rs1556962571, rs1557011973, rs1557291170, rs1556930769, rs104894789, rs1556665052, rs1556917057, rs1557305645, rs182575709, rs1556656818, rs1557218076, rs1239018406, rs1557084067, rs1557300135, rs1556035795, rs1556037455, rs1556853039, rs1556880354, rs1557047827, rs1557374667, rs796523999, rs1557320151, rs1057517960, rs1557304860, rs770183212, rs1557218093, rs1557038061, rs1557320194, rs1233380601, rs1557294228, rs1557322838, rs1057518284, rs1557291242, rs1557292678, rs1557322834, rs1557058415, rs1556780579, rs1556930579, rs1557369493, rs1556764934, rs1556962271, rs1557315928, rs1555998436, rs1556764922, rs1556656847, rs1557218131, rs1557369413, rs1557369991, rs1055371114, rs1557291229, rs1010666282, rs1556028034, rs1556929259, rs1556930839, rs1557303544, rs1557380685, rs1556802319, rs1556809704, rs1557058308, rs1557058350, rs1385794215, rs1556035817, rs1556503937, rs1556656456, rs1556764880, rs1556789913, rs1557322201, rs1557359217, rs1557362198, rs1556853298, rs1556875224, rs1556876346, rs1556852444, rs1569530432, rs1569451994, rs1569452000, rs1569559106, rs144732570, rs1569273905, rs1569526122, rs1569562941, rs1569230406, rs1569559822, rs1569528101, rs1569533965, rs1569546174, rs1569559110, rs1569559849, rs1569562936, rs1569562952, rs1057522454, rs149106712, rs1569401103, rs1209389771, rs1569563678, rs1569560739, rs868688877, rs1569558953, rs1569230215, rs1569563751, rs1569565192, rs1569559204, rs1569186252, rs1569558906, rs1569533147, rs1569559097, rs1569564281, rs1569562466, rs1569169560, rs1429329309, rs1569460722, rs1569556943, rs1569420861, rs374744331, rs1569463953, rs1569230293, rs1295394996, rs1602451773, rs1602145926, rs1602416457, rs886043597, rs1602728959, rs72466562, rs1602938385, rs1603222095, rs1603280511, rs1603452196, rs142500746, rs1254776844, rs1603513684, rs1603513697, rs1603618489, rs1603632245, rs1603632312, rs1603634298, rs1603634608, rs1603634744, rs1602169535, rs1602460062, rs1603432076, rs1603441550, rs1602766725, rs1603419076, rs1603447081, rs1601809011, rs1602727611, rs1603222556, rs1602146767, rs1602337330, rs895755247, rs1602369798, rs1602409174, rs1602417503, rs1181271457, rs1602454605, rs1602454639, rs1602454747, rs1602455302, rs1602455747, rs1602456486, rs1602669026, rs1602695597, rs1602696519, rs1602730254, rs1602947628, rs1603253563, rs1601864055, rs1602056443, rs1602937974, rs1603221854, rs1603222424, rs1603222574, rs1603222897, rs1603222922, rs1603223025, rs794727770, rs1603226023, rs1603264641, rs1603264659, rs1603264705, rs1603264731, rs1603280686, rs1603280745, rs1603280796, rs1603430178, rs1603430181, rs1603445277, rs1603445278, rs1603445283, rs1603445332, rs1603445344, rs1603452207, rs1603513680, rs1603513803, rs1603513817, rs1603513828, rs201818335, rs1603615883, rs1603628479, rs1603628482, rs1603628483, rs1603628485, rs1603628487, rs1603629988, rs1603630431, rs1603631225, rs1603631240, rs1603631241, rs1603631244, rs1603631367, rs1603631368, rs373428963, rs1603631705, rs1603631744, rs1603631752, rs1603631756, rs1603632117, rs1603632119, rs771425504, rs1216000876, rs1603632248, rs1603632309, rs1603632311, rs1603632314, rs1603632316, rs772220893, rs1603632322, rs1603632324, rs1603632326, rs1603633486, rs1603633541, rs1603633545, rs1339088514, rs398123943, rs1603633864, rs1603633868, rs1603634079, rs1603634105, rs1603634199, rs1603634203, rs1603634206, rs1603634207, rs1603634299, rs1603634603, rs1603634604, rs1603634607, rs1603634609, rs747937552, rs1603634742, rs1603634743, rs1603634745, rs1603634746, rs1603634747, rs1603634748, rs1603635326, rs1603635331, rs1603635949, rs1603635950, rs1603635953, rs1603636537, rs1603636541, rs1601808288, rs1601808296, rs1601808326, rs1601808608, rs1601810667, rs1602467530, rs1602467590, rs1602467787, rs1602468968, rs1602469251, rs1603137168, rs1603149954, rs1603150335, rs1603150993, rs374222301, rs1603151699, rs1603432059, rs794727863, rs1603437254, rs1603437272, rs1603441629, rs1603447057, rs1603447072, rs1602765633, rs1602766499, rs1602766531, rs1602766655, rs1403865104, rs1603419074, rs768892830, rs1603631365, rs1602765856, rs1602360475, rs1603631219, rs1603634749, rs1602459252, rs2040217313, rs376745644, rs2041309291, rs2044445392, rs2067953453, rs2068036881, rs2068038543, rs2078916448, rs2090513299, rs2094827204, rs2094864356, rs2095370524, rs2097850041, rs2098390819, rs2042979418, rs2046036327, rs2052700227, rs2077781516, rs2080979223, rs2040711393, rs2097447247, rs2098280263, rs2063781031, rs2080514041, rs2036834025, rs2067963703, rs2097986793, rs2059643357, rs2040821014, rs2041303734, rs2041306808, rs2069923072, rs2094864231, rs2097447725, rs2097762928, rs2042990064, rs2046034052, rs2077774135, rs2078432433, rs2093885666, rs2051898232, rs2082260036, rs2082260996, rs2093207581, rs1295935628, rs2097958423, rs907237595, rs767387334, rs1408435603, rs1302764635, rs2059702093, rs2080978755, rs764119686, rs1335666832, rs2036700718, rs2056573240, rs2094862793, rs2097752909, rs2097850128, rs370800101, rs2098315232, rs2042972321, rs2042983140, rs2059642653, rs2078438031, rs2082253437, rs2086356460, rs2040303197, rs2051636517, rs2057404615, rs2059646164, rs1556806346, rs2040709857, rs2059695805, rs2063890662, rs2097762566, rs2040081209, rs2068042914, rs745640786, rs2097958830, rs754333675, rs2036842297, rs2043796525, rs2044453958, rs2065150560, rs2068034053, rs2069915167, rs2071051447, rs2080887929, rs2082254429, rs2097114467, rs773372553, rs2097447879, rs1178785582, rs2097746958, rs2097747388, rs79541196, rs868267519, rs2097849830, rs2097958107, rs2097958158, rs2097986340, rs2097990454, rs2098280321, rs750349613, rs770934386, rs2098349366, rs1040401556, rs767698069, rs2055461260, rs774163062, rs2097920506, rs2040710629, rs2039782181, rs2098349160, rs2044079791, rs2086354048, rs2097747311, rs2052703269, rs2082258116, rs2097921115, rs2093886453, rs2063891560, rs2080984178, rs2097447453, rs2097991272, rs2094828872, rs140913030	RCV000179687 RCV003512011 RCV000180030 RCV002000139 RCV001386712 RCV001854418 RCV001963019 RCV002267725 RCV001070379 RCV000174090 RCV003512012 RCV003512013 RCV001220170 RCV000821074 RCV001219078 RCV000174745 RCV005089543 RCV001062806 RCV003512014 RCV001388126 RCV001210732 RCV001380519 RCV000175441 RCV002515774 RCV005196763 RCV003231116 RCV001230051 RCV000990712 RCV002541118 RCV001056961 RCV001053382 RCV000176203 RCV001067282 RCV001050125 RCV001854419 RCV000990696 RCV000990693 RCV000990692 RCV000808328 RCV000201197 RCV001854420 RCV000176553 RCV000176555 RCV002514414 RCV000176666 RCV000990681 RCV001854421 RCV000990668 RCV001237927 RCV000201013 RCV001045796 RCV000555028 RCV001389665 RCV002909230 RCV003445436 RCV001037569 RCV000545335 RCV005198983 RCV001381881 RCV001253506 RCV000177912 RCV002514415 RCV000178001 RCV001854424 RCV000201201 RCV000179875 RCV001907790 RCV003622828 RCV000809481 RCV000313930 RCV001390485 RCV002034586 RCV003512015 RCV005089545 RCV005198975 RCV001877327 RCV000201002 RCV005089546 RCV001389468 RCV000797219 RCV000539749 RCV001034930 RCV001854425 RCV001224748 RCV001808187 RCV002885035 RCV002514416 RCV000201168 RCV005198968 RCV000179204 RCV001384484 RCV000807954 RCV000179616 RCV000179641 RCV000797326 RCV001854426 RCV002514418 RCV000531926 RCV002544242 RCV000582607 RCV001726537 RCV001378903 RCV001379552 RCV001377896 RCV001377561 RCV001379043 RCV001385582 RCV001388907 RCV001386711 RCV001381913 RCV001385803 RCV001386512 RCV001385752 RCV001381988 RCV001384483 RCV001384485 RCV001389552 RCV001384486 RCV001384488 RCV001390179 RCV001385901 RCV001385586 RCV001388300 RCV001384664 RCV001386810 RCV001388544 RCV001385571 RCV001390874 RCV001381880 RCV001384487 RCV001381882 RCV001384089 RCV001390458 RCV001389666 RCV001388178 RCV001389667 RCV001386964 RCV001382078 RCV001381251 RCV001383870 RCV001382079 RCV001386397 RCV001384764 RCV001386764 RCV001385863 RCV001384765 RCV001384766 RCV001382903 RCV001384767 RCV001386751 RCV001387174 RCV001387176 RCV001382917 RCV001384959 RCV001387497 RCV001380317 RCV001381784 RCV001387175 RCV001383466 RCV001383925 RCV001385910 RCV001384109 RCV001390006 RCV001383372 RCV001381647 RCV001385391 RCV001384360 RCV001384818 RCV001382430 RCV006257337 RCV002568240 RCV001832750 RCV001554270 RCV001810102 RCV003339723 RCV001730116 RCV001730127 RCV001885150 RCV002250770 RCV002034547 RCV002541117 RCV005882850 RCV003513661 RCV001868835 RCV004796900 RCV002544239 RCV003226890 RCV002541119 RCV001868836 RCV002471154 RCV003623713 RCV002541120 RCV002541121 RCV002541122 RCV003512132 RCV003513671 RCV002471155 RCV005199000 RCV004764477 RCV001885151 RCV003513667 RCV005198998 RCV002034548 RCV002541123 RCV001885152 RCV002471156 RCV002541124 RCV001885153 RCV003513656 RCV001868837 RCV003513652 RCV003513653 RCV003513648 RCV002034549 RCV002034550 RCV002541125 RCV002034551 RCV002541126 RCV003513650 RCV001885154 RCV002544240 RCV002034552 RCV002034553 RCV003513673 RCV003513670 RCV002541127 RCV003513668 RCV002541128 RCV001868838 RCV003513665 RCV002034554 RCV002471159 RCV001885155 RCV005884527 RCV005198996 RCV005409836 RCV002280907 RCV002541129 RCV002544241 RCV003513674 RCV002254357 RCV003513672 RCV001868839 RCV003513660 RCV003384308 RCV003513662 RCV003513655 RCV002034555 RCV002541130 RCV003107850 RCV005041767 RCV002034556 RCV001885156 RCV003513649 RCV005871523 RCV002541131 RCV005199012 RCV005051470 RCV001868840 RCV003513666 RCV005882202 RCV001868841 RCV002541132 RCV001799532 RCV002541133 RCV002541134 RCV002541135 RCV005198995 RCV002541136 RCV002541137 RCV005198987 RCV001885157 RCV005198977 RCV002034557 RCV001868842 RCV002541138 RCV002541139 RCV003513658 RCV003314017 RCV002541191 RCV001885180 RCV001868902 RCV001805736 RCV001807881 RCV001808175 RCV001843341 RCV001843342 RCV001843343 RCV001843344 RCV001843345 RCV001848597 RCV002025911 RCV002025937 RCV002025947 RCV001900883 RCV001913573 RCV001939804 RCV001955304 RCV001966185 RCV001959634 RCV001918968 RCV001877044 RCV001924063 RCV001928583 RCV002028469 RCV001993633 RCV001999749 RCV002037714 RCV001917741 RCV001939380 RCV001941768 RCV001894023 RCV001877943 RCV001886691 RCV001908384 RCV001889439 RCV001911749 RCV001948294 RCV001958160 RCV001931147 RCV001940634 RCV001937222 RCV001902384 RCV001972647 RCV001889571 RCV001930006 RCV001997057 RCV001997093 RCV002007879 RCV002007967 RCV001916591 RCV001927810 RCV001911252 RCV001940749 RCV001884956 RCV001971490 RCV001894847 RCV001926173 RCV001929042 RCV001884674 RCV001993311 RCV001926809 RCV001994735 RCV001993245 RCV001915062 RCV001957387 RCV001994666 RCV002000049 RCV001994706 RCV001991245 RCV001985971 RCV001916241 RCV002004159 RCV001870746 RCV001993400 RCV002035434 RCV002007575 RCV002007577 RCV002035495 RCV002016299 RCV001933772 RCV001945855 RCV001941914 RCV001942057 RCV001895634 RCV001895695 RCV001879051 RCV002002527 RCV001941555 RCV001941583 RCV001938844 RCV001938938 RCV002044363 RCV001947583 RCV001970199 RCV001863961 RCV001942342 RCV001958611 RCV001958641 RCV001970074 RCV001885914 RCV001901423 RCV001949494 RCV001880911 RCV001885588 RCV001956061 RCV001972734 RCV001949415 RCV001884073 RCV002019842 RCV001931932 RCV001967291 RCV001972518 RCV001953668 RCV001982003 RCV001959072 RCV001949557 RCV001956494 RCV001956508 RCV001956539 RCV001914579 RCV001881161 RCV002026915 RCV001895335 RCV001913532 RCV001895155 RCV001963316 RCV001892180 RCV001867045 RCV001934158 RCV001890465 RCV002024965 RCV002052050 RCV002052113 RCV002052126 RCV002052216 RCV003093881 RCV003388624 RCV005058176 RCV002307850 RCV005095823 RCV003493926 RCV002251271 RCV002281651 RCV002281659 RCV003512144 RCV002282731 RCV002282801 RCV003096340 RCV002289138 RCV002290065 RCV002290249 RCV001388690 RCV001850083 RCV001041065 RCV003102291 RCV002306735 RCV002306738 RCV002306799 RCV002306814 RCV002309572 RCV002309981 RCV002307955 RCV002308054 RCV002308089 RCV002308298 RCV002309175 RCV002309200 RCV002309204 RCV002309210 RCV002309435 RCV002306826 RCV002310280 RCV002310314 RCV002310538 RCV005096317 RCV003103516 RCV002471831 RCV002470679 RCV002470680 RCV002470682 RCV002470683 RCV002470684 RCV002470685 RCV002470686 RCV002470687 RCV002470688 RCV002470689 RCV002470690 RCV002470691 RCV002470692 RCV002470693 RCV002470694 RCV002470695 RCV002470696 RCV002470697 RCV002470698 RCV002470699 RCV002470700 RCV002470701 RCV002471226 RCV002471227 RCV002471228 RCV002471229 RCV002471230 RCV002471231 RCV002471232 RCV002471233 RCV002471234 RCV002471235 RCV002471236 RCV002471237 RCV002471238 RCV002471239 RCV002471240 RCV003041430 RCV003064685 RCV003041432 RCV003050598 RCV003041433 RCV003093504 RCV003084929 RCV000984162 RCV002602796 RCV002470790 RCV002517670 RCV001210378 RCV003512021 RCV003338446 RCV005089885 RCV001852181 RCV005089888 RCV003112437 RCV001832024 RCV002517735 RCV001205232 RCV000179209 RCV001236971 RCV003621510 RCV002515288 RCV002603796 RCV002635435 RCV002690461 RCV002716798 RCV002755187 RCV002736008 RCV002801111 RCV002811206 RCV002819669 RCV002810963 RCV002824962 RCV002791693 RCV002815949 RCV002828247 RCV002842314 RCV002839021 RCV002843145 RCV002835220 RCV002856949 RCV002847007 RCV002871066 RCV002846361 RCV002862244 RCV002846221 RCV002825549 RCV002838466 RCV002829302 RCV002853489 RCV002881447 RCV002889502 RCV002899056 RCV002866014 RCV002858046 RCV002858111 RCV002858178 RCV002871602 RCV002871659 RCV002863629 RCV002848426 RCV002858401 RCV002866986 RCV002893855 RCV002881107 RCV000192688 RCV002913623 RCV002894377 RCV002899666 RCV002917154 RCV002927206 RCV002927393 RCV002927394 RCV002927945 RCV002928060 RCV002909444 RCV002962772 RCV002962774 RCV002954370 RCV002958060 RCV003009161 RCV000196412 RCV003005148 RCV000201119 RCV000201187 RCV000201125 RCV000201110 RCV000201198 RCV000201051 RCV000201037 RCV000201162 RCV000201084 RCV000201027 RCV000201174 RCV000201094 RCV000201020 RCV000201144 RCV000201085 RCV000201153 RCV000201192 RCV000201134 RCV000201117 RCV000201033 RCV000201122 RCV000201039 RCV000201095 RCV000201034 RCV000201158 RCV000201102 RCV000201081 RCV000201188 RCV000201074 RCV000201111 RCV000201191 RCV000201047 RCV000201114 RCV000201029 RCV000201181 RCV000201099 RCV000201007 RCV000201104 RCV000201018 RCV001853223 RCV000201011 RCV000201140 RCV000201050 RCV000201205 RCV000201147 RCV000201060 RCV000201042 RCV000201106 RCV000201171 RCV003013535 RCV003008265 RCV003013328 RCV003028668 RCV003018115 RCV002996839 RCV003010133 RCV003016601 RCV003030974 RCV003032075 RCV003029613 RCV003028725 RCV003031963 RCV003032229 RCV003029559 RCV003024195 RCV003059424 RCV003055487 RCV003024986 RCV003039138 RCV003039290 RCV003054589 RCV003025277 RCV003054237 RCV003049932 RCV000226304 RCV000210931 RCV003128223 RCV003128558 RCV005870099 RCV004763601 RCV003512194 RCV003152845 RCV003152873 RCV000232091 RCV000229638 RCV000229831 RCV000231131 RCV000230747 RCV005102425 RCV003512202 RCV003228771 RCV005090301 RCV001855010 RCV001828170 RCV002518763 RCV001833300 RCV000256452 RCV000011958 RCV000011960 RCV000011961 RCV000011962 RCV000011963 RCV000011964 RCV000011967 RCV000011968 RCV000011971 RCV000011972 RCV000011973 RCV000011974 RCV000011975 RCV000011976 RCV000011979 RCV000011980 RCV000011983 RCV000011984 RCV003151720 RCV000011990 RCV000011991 RCV000011993 RCV000011994 RCV000011995 RCV003511974 RCV000011999 RCV005089230 RCV000011996 RCV000012001 RCV000012002 RCV000012003 RCV000012004 RCV000012005 RCV000012006 RCV000012007 RCV000012008 RCV000012009 RCV000012010 RCV000012011 RCV000012012 RCV000012013 RCV000012014 RCV000012017 RCV000012021 RCV000012024 RCV000012026 RCV000012029 RCV000012033 RCV000201024 RCV000012035 RCV001796958 RCV000803254 RCV000012040 RCV000012042 RCV003512028 RCV001377027 RCV002519089 RCV001071113 RCV002518864 RCV000379611 RCV000391947 RCV000312055 RCV001382719 RCV005090352 RCV001389979 RCV001004419 RCV001211734 RCV001859630 RCV005090364 RCV002519232 RCV002521955 RCV001833375 RCV001855189 RCV001859671 RCV005090379 RCV005090387 RCV000274126 RCV000387009 RCV003314454 RCV003314518 RCV003322715 RCV002519333 RCV005090402 RCV000817852 RCV003512035 RCV000595692 RCV003334424 RCV001062367 RCV003340889 RCV003340897 RCV003337863 RCV003338204 RCV003494596 RCV003512423 RCV003512867 RCV003512317 RCV003512906 RCV003512951 RCV003513055 RCV003512948 RCV003512949 RCV003513115 RCV003511562 RCV003513646 RCV003513647 RCV003513654 RCV003513657 RCV003513659 RCV003513663 RCV003513669 RCV003511589 RCV003511581 RCV003511872 RCV003512497 RCV003511675 RCV003511730 RCV003511777 RCV003511855 RCV003511836 RCV003512556 RCV003512735 RCV003512542 RCV003512632 RCV003512674 RCV003512710 RCV003512716 RCV003621778 RCV003622555 RCV003622547 RCV003622549 RCV003622579 RCV003622580 RCV003622658 RCV003622605 RCV003622625 RCV003622647 RCV003622674 RCV003622686 RCV003622862 RCV003622683 RCV003622706 RCV003622709 RCV003622856 RCV003622815 RCV003622820 RCV003622844 RCV003622784 RCV003622867 RCV003622868 RCV003622892 RCV003622959 RCV003622932 RCV003622972 RCV003622991 RCV003622970 RCV003623020 RCV003623181 RCV003623184 RCV003623211 RCV003623308 RCV003623295 RCV003623141 RCV003623172 RCV003623344 RCV003623366 RCV003623498 RCV003623410 RCV003623466 RCV003623407 RCV003623452 RCV003623475 RCV003990937 RCV004586403 RCV000541101 RCV002521460 RCV000415013 RCV002524857 RCV000173322 RCV000469225 RCV000467852 RCV000462643 RCV000464817 RCV000477000 RCV000466883 RCV000463648 RCV000461452 RCV000456686 RCV000470659 RCV000475286 RCV000473580 RCV000474172 RCV000458271 RCV000466434 RCV000470282 RCV000469346 RCV000475363 RCV000475231 RCV000460770 RCV000464915 RCV000473878 RCV000475711 RCV000456408 RCV000470018 RCV000469689 RCV000457661 RCV000464014 RCV000457394 RCV000457870 RCV000461657 RCV000466920 RCV000462905 RCV000473975 RCV000465065 RCV000458031 RCV000473410 RCV000472980 RCV000459187 RCV000468912 RCV001061855 RCV002470867 RCV005090937 RCV001042761 RCV000546844 RCV001240972 RCV003114638 RCV001857264 RCV003114639 RCV002527467 RCV000630493 RCV001834661 RCV000693813 RCV001829465 RCV000815120 RCV000990749 RCV001857987 RCV000543776 RCV000545307 RCV000546250 RCV000544453 RCV000559319 RCV000540576 RCV000549240 RCV000554463 RCV000538642 RCV000530700 RCV000535740 RCV000531041 RCV000558238 RCV000529334 RCV000557103 RCV000537797 RCV000559980 RCV000545797 RCV000535811 RCV000554085 RCV000549989 RCV000549342 RCV000532407 RCV000531520 RCV000556296 RCV000583728 RCV000584311 RCV000582935 RCV000585714 RCV000630538 RCV005091548 RCV000990679 RCV000820684 RCV001854000 RCV000990560 RCV000591154 RCV005091553 RCV003512060 RCV003325968 RCV000990659 RCV001854045 RCV003225949 RCV005091565 RCV002470924 RCV002532514 RCV003512061 RCV000990566 RCV000814386 RCV000792583 RCV001390176 RCV001382318 RCV001729648 RCV003512062 RCV000597787 RCV000625746 RCV003512069 RCV003621564 RCV003767845 RCV000630497 RCV000630536 RCV000630529 RCV000630553 RCV000630515 RCV000630530 RCV000630540 RCV000630547 RCV000630498 RCV000630502 RCV000630517 RCV000630554 RCV000630559 RCV000630534 RCV000630572 RCV000630537 RCV000630567 RCV000630561 RCV000630504 RCV000630508 RCV000630551 RCV000630501 RCV000630503 RCV000630556 RCV000630518 RCV000630566 RCV000630490 RCV000630521 RCV000630516 RCV000630548 RCV000630510 RCV001051973 RCV001861709 RCV000701414 RCV000690515 RCV000707095 RCV000689427 RCV000687043 RCV000696099 RCV000703390 RCV000698498 RCV000693959 RCV000703495 RCV000698568 RCV000693051 RCV000693881 RCV000685001 RCV000700569 RCV000701701 RCV000691896 RCV000697112 RCV000701455 RCV000698005 RCV000697322 RCV000697118 RCV001861962 RCV000990682 RCV000714701 RCV000767858 RCV000810778 RCV001390000 RCV000755045 RCV001868930 RCV001862141 RCV000990647 RCV002533089 RCV000824292 RCV003512073 RCV000990645 RCV001868955 RCV001038524 RCV001232666 RCV000819122 RCV003117532 RCV005092146 RCV001855676 RCV002470964 RCV005092151 RCV000990641 RCV001869004 RCV001869027 RCV002536566 RCV000845039 RCV000791277 RCV000810732 RCV000819336 RCV000815095 RCV000801649 RCV000805318 RCV000824531 RCV000797650 RCV000796066 RCV000800646 RCV000793033 RCV000792361 RCV000793324 RCV000792592 RCV000805890 RCV000797188 RCV000793396 RCV000797527 RCV000819083 RCV000797001 RCV000795920 RCV000801513 RCV000816839 RCV000791745 RCV000804270 RCV000795752 RCV000798687 RCV000804494 RCV000821239 RCV000808723 RCV000809618 RCV000813250 RCV005092511 RCV000990558 RCV000990559 RCV000990561 RCV000990562 RCV000990564 RCV000990565 RCV000990567 RCV000990568 RCV000990569 RCV000990570 RCV000990571 RCV000990572 RCV000990573 RCV000990575 RCV000990578 RCV000990579 RCV000990580 RCV000990582 RCV000990583 RCV000990584 RCV000990585 RCV000990586 RCV000990587 RCV000990588 RCV000990589 RCV000990590 RCV000990592 RCV000990593 RCV000990594 RCV000990595 RCV000990597 RCV000990599 RCV000990600 RCV000990601 RCV000990602 RCV000990603 RCV000990604 RCV000990605 RCV000990606 RCV000990607 RCV000990608 RCV000990610 RCV000990611 RCV000990612 RCV000990613 RCV000990614 RCV000990615 RCV000990617 RCV000990620 RCV000990619 RCV000990622 RCV000990624 RCV000990625 RCV000990626 RCV000990627 RCV000990628 RCV000990629 RCV000990630 RCV000990631 RCV000990632 RCV000990633 RCV000990634 RCV000990635 RCV000990636 RCV000990637 RCV000990638 RCV000990639 RCV000990640 RCV000990643 RCV000990642 RCV000990644 RCV000990646 RCV000990648 RCV000990650 RCV000990651 RCV000990652 RCV000990653 RCV000990654 RCV000990655 RCV000990656 RCV000990657 RCV000990658 RCV000990660 RCV000990661 RCV000990662 RCV000990663 RCV000990664 RCV000990665 RCV000990666 RCV000990667 RCV000990669 RCV000990670 RCV000990673 RCV000990675 RCV000990676 RCV000990677 RCV000990678 RCV000990683 RCV000990685 RCV000990686 RCV000990687 RCV000990688 RCV000990689 RCV000990690 RCV000990691 RCV000990694 RCV000990695 RCV000990697 RCV000990699 RCV000990700 RCV000990701 RCV000990702 RCV000990703 RCV000990704 RCV000990705 RCV000990706 RCV000990708 RCV000990709 RCV000990710 RCV000990711 RCV000990713 RCV000990714 RCV000990715 RCV000990717 RCV000990718 RCV000990719 RCV000990720 RCV000990721 RCV000990722 RCV000990723 RCV000990724 RCV000990725 RCV000990726 RCV000990727 RCV000990728 RCV000990732 RCV000990733 RCV000990734 RCV000990735 RCV000990737 RCV000990738 RCV000990739 RCV000990740 RCV000990741 RCV000990744 RCV000990745 RCV000990746 RCV000990747 RCV000990748 RCV000990750 RCV000990752 RCV000990753 RCV000990755 RCV000990757 RCV000990758 RCV000990761 RCV000990762 RCV000990763 RCV000990764 RCV000990765 RCV000990766 RCV000990767 RCV000991291 RCV003512093 RCV002549770 RCV001235869 RCV001004416 RCV001004417 RCV001004418 RCV001004420 RCV001071286 RCV001048600 RCV001059666 RCV001063497 RCV001064404 RCV001072058 RCV001039885 RCV001056428 RCV001042006 RCV001056872 RCV001039981 RCV001062106 RCV001071708 RCV001036104 RCV001056106 RCV001072078 RCV001052935 RCV001037084 RCV001041066 RCV001052197 RCV001057813 RCV001056338 RCV001051222 RCV001042956 RCV001039587 RCV001048615 RCV001066389 RCV001050686 RCV001055672 RCV001056933 RCV001038643 RCV001047975 RCV001090164 RCV001174359 RCV001174500 RCV001174501 RCV002560243 RCV001220496 RCV001221009 RCV001221459 RCV001216225 RCV001222532 RCV001224165 RCV001223700 RCV001222964 RCV001222995 RCV001218653 RCV001220171 RCV001218288 RCV001204335 RCV001211569 RCV001210073 RCV001204983 RCV001206194 RCV001202967 RCV001207235 RCV001213483 RCV001202089 RCV001204911 RCV001209787 RCV001223604 RCV001219064 RCV001215695 RCV001232589 RCV001230035 RCV001235352 RCV001238827 RCV001225827 RCV001231853 RCV001227515 RCV001237923 RCV001234541 RCV001237600 RCV001234048 RCV001225458 RCV001247096 RCV001248370 RCV001247055 RCV001239889 RCV001244643 RCV001240780 RCV001225998 RCV001226167 RCV001238952 RCV001250160 RCV001251518 RCV001253143 RCV001290982 RCV001292552 RCV001261532 RCV001261920 RCV001264099 RCV001264100 RCV001264101 RCV001264102 RCV001264104 RCV001264223 RCV001264224 RCV001264225 RCV001264226 RCV001264227 RCV001264228 RCV001264229 RCV001264230 RCV001263655 RCV001263656 RCV001263657 RCV001263659 RCV001263660 RCV001263661 RCV001263662 RCV001263947 RCV001263948 RCV001263949 RCV001263950 RCV001263951 RCV001263952 RCV001263953 RCV001264113 RCV001264114 RCV001264115 RCV001264116 RCV001264118 RCV001264119 RCV001264120 RCV001264393 RCV001264394 RCV001264405 RCV001264406 RCV001264407 RCV001264408 RCV001264783 RCV001264784 RCV001264785 RCV001264786 RCV001264787 RCV001264788 RCV001264789 RCV001267829 RCV001385392 RCV001835379 RCV001863159	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystrophin deficiency	Pathogenic; Likely pathogenic	rs398123827, rs398123863, rs398123881, rs398123923, rs398123953, rs398123962, rs398123973, rs398123981, rs1064325, rs398123999, rs398124050, rs398124074, rs398124092, rs398124094, rs2148280837, rs2147076500, rs2148751523, rs2148428395, rs794726993, rs794727661, rs863225015, rs863225013, rs863225012, rs886039478, rs886039536, rs128625229, rs104894787, rs128626233, rs104894790, rs104894797, rs886042106, rs886043041, rs886043640, rs398122853, rs1060502639, rs1425702864, rs1557292599, rs1556656851, rs1569559204, rs376745644, rs2040709857, rs2094828872	RCV001831824 RCV001831830 RCV001826733 RCV001831841 RCV001831852 RCV001273871 RCV001831854 RCV001826753 RCV001831858 RCV001274385 RCV001835679 RCV001831875 RCV001826766 RCV001831880 RCV001826171 RCV001831388 RCV001826163 RCV001832750 RCV001826873 RCV001832024 RCV001833163 RCV001271297 RCV001828037 RCV001828170 RCV001833300 RCV001831560 RCV001826457 RCV001831561 RCV001835626 RCV001831564 RCV001828175 RCV001833346 RCV001833375 RCV001274389 RCV001833585 RCV001834661 RCV001829465 RCV001271296 RCV001825446 RCV001830629 RCV001271293 RCV001828804 RCV001835379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elevated circulating creatine kinase concentration	Pathogenic; Likely pathogenic	rs398123939, rs2148460005, rs2520020650, rs2147033488, rs863225015, rs886044916, rs1057516028, rs1114167437, rs1114167439, rs1556880327, rs886042604, rs2055460202	RCV002471157 RCV001787299 RCV002471247 RCV002471248 RCV003105824 RCV000262955 RCV000408629 RCV000490664 RCV000490667 RCV000626858 RCV000626859 RCV001260521	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Highly elevated creatine kinase	Likely pathogenic; Pathogenic	rs2522506687, rs2524615704	RCV003150608 RCV003226588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intermediate muscular dystrophy	Pathogenic	rs398123834, rs2149014816, rs128626240	RCV001797983 RCV000011989 RCV000011998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs1233380601	RCV005898681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs1603514271	RCV005912182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor delay	Pathogenic	rs886043676	RCV000626855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Pathogenic; Likely pathogenic	rs2522553272, rs2519636860, rs1557058294, rs1603636710, rs2097991272	RCV003228763 RCV003229542 RCV000626856 RCV000850291 RCV001271111	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy	Likely pathogenic; Pathogenic	rs2522552599, rs1057518866, rs1603452200	RCV003228762 RCV000415086 RCV000850325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin	Pathogenic; Likely pathogenic	rs398123834, rs398123852, rs398123865, rs398123881, rs398123929, rs398123953, rs398123959, rs398123973, rs398123997, rs398124072, rs398124091, rs2148428395, rs2148805769, rs2146819649, rs2146821137, rs776457078, rs1603631757, rs2148280593, rs2148280427, rs2147253222, rs753006232, rs746082869, rs2148297268, rs2149245252, rs2148630194, rs886042618, rs2522565446, rs727503864, rs2521812360, rs2148459928, rs797045526, rs863225011, rs863225010, rs863225001, rs863224999, rs794727357, rs863224988, rs2522056967, rs2524074680, rs104894797, rs5030730, rs886042351, rs763936813, rs886043640, rs886043989, rs2524189017, rs2524074403, rs2525744746, rs762379765, rs398122853, rs1060502639, rs1064793964, rs1556764753, rs1556256329, rs182575709, rs770183212, rs1557218131, rs1569530432, rs1569186252, rs1601808932, rs376745644, rs2068038543, rs2095370524, rs2044442536, rs1064796764, rs2040709857, rs2097987198, rs2097762588, rs2094828872, rs140913030	RCV003323388 RCV005886443 RCV005401326 RCV005237521 RCV001526893 RCV001174851 RCV002266382 RCV003323389 RCV005406810 RCV003389237 RCV001270853 RCV005916134 RCV005237001 RCV002271671 RCV005931459 RCV004700068 RCV001797905 RCV001806814 RCV001806830 RCV002271687 RCV005238116 RCV004782906 RCV002271745 RCV002271778 RCV002271796 RCV002282867 RCV002282868 RCV003226216 RCV002308654 RCV002470053 RCV004700578 RCV001192549 RCV001199880 RCV005237711 RCV001193218 RCV002222440 RCV001293467 RCV003331414 RCV003226752 RCV005237369 RCV003323357 RCV001420825 RCV003317180 RCV001420934 RCV003155153 RCV003324477 RCV003389302 RCV005414292 RCV005240863 RCV001264540 RCV001193188 RCV001280673 RCV002222541 RCV005252952 RCV006264017 RCV001824837 RCV003155255 RCV001293608 RCV001192551 RCV001375552 RCV002282444 RCV001199940 RCV001779112 RCV001193794 RCV001193795 RCV002222680 RCV001260431 RCV001270854 RCV001290526 RCV001290604	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs761750882, rs773779441, rs764789298, rs2148691779, rs398123886, rs2149139061, rs2521425675, rs2523136075, rs2526095742, rs863225010, rs201366610, rs886042604, rs1556280638	RCV005912639 RCV005912640 RCV005914611 RCV005932770 RCV005922452 RCV005934587 RCV005931793 RCV005930436 RCV005928619 RCV005893610 RCV005887435 RCV005895596 RCV005900940 RCV005897247	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary dilated cardiomyopathy	Pathogenic	rs1557315928	RCV000626857	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive muscle weakness	Pathogenic	rs1557315928	RCV000626857	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive muscular dystrophy	Pathogenic; Likely pathogenic	rs2149075096, rs1279143530, rs886042618, rs2521812360, rs201366610, rs199783662, rs2521867689	RCV006258405 RCV005637633 RCV005635486 RCV005635497 RCV005632173 RCV006257378 RCV005637000	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive proximal muscle weakness	Likely pathogenic	rs1556880327	RCV000626858	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal lower limb muscle weakness	Pathogenic	rs886043676	RCV000626855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal muscle weakness	Likely pathogenic	rs2522506687	RCV003150608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs2148456690	RCV005912644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs398124068, rs398123886, rs2148297581, rs2148333619, rs727503802, rs2519918676, rs2519148962, rs1602417503, rs1569546198, rs128626253, rs2524515927, rs1057524825, rs398123931, rs1569526122, rs1602730254, rs1603280745, rs1603633868, rs2036834025, rs2068042914, rs2043796525	RCV005928666 RCV005922453 RCV005922454 RCV005930060 RCV005888381 RCV005930483 RCV005928588 RCV005928639 RCV005927080 RCV005887434 RCV005887436 RCV005887437 RCV005931510 RCV005898143 RCV005901130 RCV005901706 RCV005912180 RCV005912181 RCV005912183 RCV005912442 RCV005909235 RCV005909294	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked DMD-related dystrophinopathy	Pathogenic	rs104894790	RCV000985010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Achondroplasia	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker muscular dystrophy, atypical	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN CONGENITAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 3B	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DMD-ASSOCIATED DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duchenne or Becker muscular dystrophy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTROPHINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG: myopathic abnormalities	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exertional myalgia, muscle stiffness and myoglobinuria	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial restrictive cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary skeletal muscle disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEIOMYOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pectus excavatum	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proptosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA, EMBRYONAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SENSORINEURAL HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shoulder girdle muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	9339357		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	1737859	Associate	★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	12354438	Associate	★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	1822343, 8440993		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	30257524		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	28471956		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29379140		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31646011		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	27653240		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28421263, 30690799, 30708186		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	23772785, 28694162, 29458121, 29653285, 30853658		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28316061		★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	BEFREE	25047667		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	26631896, 34050592, 37671549	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17109061		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30374631		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17109061		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27225184		★☆☆☆☆ Found in Text Mining only
Atrial Flutter	Atrial flutter	Pubtator	15546999	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Standstill	Atrial standstill	Pubtator	15546999	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	26631896	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	28974727	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22560791		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	19063686, 30496603		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28392227, 28974727	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28392227, 28974727		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22369279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25167861	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barth Syndrome	Barth syndrome	Pubtator	40156242	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	10094565, 10196701, 10399748, 10423348, 10480348, 10514583, 10573008, 10660328, 10761838, 10854113, 11257468, 11381192, 11412872, 11568916, 11795488, 12077324, 12111668, 12132577, 12518196, 12577122, 12589117, 12606026, 12668614, 12754707, 1301134, 1307253, 1363782, 1415217, 1422198, 1427789, 1431989, 14571009, 14659407, 14681829, 1488990, 1496988, 15024733, 1506856, 15118904, 1518025, 1525558, 1537352, 1564523, 15655674, 15723292, 15841391, 15845029, 15952989, 16030524, 16077730, 1613762, 16154963, 16246949, 1634901, 16380627, 1640426, 16439068, 16566881, 16608904, 16633967, 16718354, 1676564, 16770791, 16834926, 1683669, 1701042, 17041906, 17041910, 17141273, 17303423, 17385798, 17420831, 17561468, 1757094, 1757963, 17620052, 17684229, 18059005, 1822792, 18348289, 18639760, 1864612, 18653336, 18684626, 18974550, 18974567, 19084397, 19140108, 19206170, 19269824, 19396825, 19409785, 1944822, 19473085, 19602481, 19793655, 19875288, 1990838, 19937601, 20031633, 20153965, 2033400, 2033404, 20381484, 2063877, 20683981, 20847377, 21194027, 21354051, 2158637, 21774744, 21815800, 21969337, 21972111, 22006698, 22013876, 22052614, 22102647, 22137979, 22453924, 22454060, 2260849, 2261642, 22650324, 22776072, 22792070, 23224783, 2325103, 23438214, 23536893, 23601510, 23975932, 2404210, 2404853, 24217213, 24225992, 24320790, 24347611, 2491009, 24996370, 25131993, 25308949, 25322757, 25348330, 25537791, 25612243, 25612904, 25633150, 2563842, 2565867, 2576185, 25900853, 26094594, 2613240, 26148721, 26295289, 26321630, 26364686, 2653672, 2668783, 26745801, 2674948, 26754139, 26786758, 26796035, 26836830, 26911353, 27150296, 27367833, 27485237, 27593222, 27616544, 27761893, 27979502, 28027854, 28152980, 2821406, 28247318, 28390761, 28566768, 28610567, 28680110, 28734761, 28746422, 28937030, 28972564, 28974147, 2903663, 29067654, 29103911, 29167533, 29194514, 29273555, 29356845, 29414413, 29466448, 29526517, 29535188, 29578119, 29579078, 29624722, 29682908, 29847600, 29973226, 29984652, 30103083, 3014348, 30171539, 30171546, 30236982, 3030926, 30352768, 30355512, 3040577, 30571283, 30590561, 30660698, 30672725, 31266455, 31379145, 31502334, 31628810, 31650559, 31689503, 31706698, 3410474, 3773991, 3777019, 6086495, 7561956, 7719142, 7881286, 7897627, 7900621, 7909988, 7951237, 7981595, 8006687, 8112741, 8145928, 8149204, 8158213, 8160727, 8245351, 8246010, 8263549, 8279470, 8281150, 8282827, 8284293, 8322822, 8327067, 8328458, 8329891, 8352853, 8353425, 8353491, 8361505, 8411067, 8413368, 8437017, 8437027, 8440993, 8445617, 8490621, 8533812, 8543940, 8614119, 8614513, 8678019, 8730289, 8733896, 8784805, 8808315, 8840119, 8891069, 8894415, 8950674, 8989125, 8990133, 9007319, 9048922, 9410897, 9664586, 9710043, 9736061		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker Muscular Dystrophy	Becker Muscular Dystrophy	UNIPROT_DG	10573008		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker Muscular Dystrophy	Becker Muscular Dystrophy	CTD_human_DG	10939566, 11409421, 12966700, 14751810, 16122626, 19309154, 21273767, 23297412, 24349043, 26930420, 29404407		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker Muscular Dystrophy	Becker Muscular Dystrophy	CLINVAR_DG	17259292, 17854090, 19206170, 19793655, 19937601, 22223181, 23453023, 25525159, 27708273, 27930565, 28859693		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker Muscular Dystrophy	Becker Muscular Dystrophy	GENOMICS_ENGLAND_DG	8401582		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker Muscular Dystrophy	Becker Muscular Dystrophy	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker muscular dystrophy	Becker Muscular Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	19330236, 8782832		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	BEFREE	2193159, 2260862		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17288970, 31079351		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33955002	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18253029		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	18253029		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28083668, 29245225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	GWASDB_DG	21836138		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	16258658		★☆☆☆☆ Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease	Carbamoyl Phosphate Synthase Deficiency	BEFREE	16516424		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22372958		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21442472		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	11092670	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	10235436, 11056105, 12031623, 12118246, 12875769, 19449433, 20031633, 20206892, 20373002, 20696779, 21138941, 21451578, 21665956, 21677768, 22248393, 22318092, 22749475, 23110537, 24645914, 24772416, 25758104, 26940570, 27230049, 27908661, 28623080, 28793824, 29127875, 29433343, 29552091, 30103083, 30118340, 30155598, 30235804, 30360568, 30518686, 30782477, 30972156, 31039133, 31049579, 31611157, 7635962, 7787263, 7900621, 7981594, 8502196, 8505286, 8784804, 8989125, 9441825, 9850730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	11092670, 12875769, 19449433, 20031633, 22937058, 28931764, 31049579, 37643496, 7635962, 7825571	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	17440445, 18340010, 20675662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	17440445, 18340010, 20675662		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	11092670, 12354438, 15671604, 20031633, 21851881, 23870371, 25537791, 30057996, 30150400, 34011823, 34050592, 37671549, 7616547, 7635962, 7825571, 9470882	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	30150400	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10490068, 10841222, 11056105, 12031623, 12354438, 12359139, 14998622, 16380627, 17715288, 18562127, 20373002, 21851881, 23283493, 23870371, 24334334, 24996370, 25537791, 7616547, 7635962, 7825571, 8413368, 8789442, 9243088, 9470882, 9563954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	11496434		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	12359139, 17826093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10400009, 10490068, 10841222, 10974018, 12359139, 14998622, 15671604, 16246949, 20206892, 20373002, 21289070, 21851881, 22092019, 23283493, 24996370, 26968544, 28612341, 7755293, 8301653, 9470882		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	11496434		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29806852		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	15176994, 30099930, 31230659		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	31105770		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	31105770		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30193871		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29552091		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29286560		★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	29693762		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	22383943		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28497224		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	17487735		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29564475, 30374631		★☆☆☆☆ Found in Text Mining only
Classical galactosemia	Galactosemia	BEFREE	18574215		★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	12833401, 31587319		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	3177468		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	12362416, 20098710, 26081639, 28392227, 30135256, 30646960, 31434868	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	20098710, 21109441, 28392227, 29582400		★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	22707356	Associate	★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	17503325	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36652260	Associate	★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	10400009		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital cataract	Congenital Cataract	BEFREE	9710043		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16276108		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	1463011, 22308874, 2837087		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	23574351		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	10694916, 11516613, 16258658, 17336067, 8782832, 8795845		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	1552307, 7561954		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11056105, 15963350, 20492678, 23667215, 23984357, 26084457, 26294044, 26311238, 27730362, 28623080, 28727929, 29267303, 29275006, 30347179, 8800037, 9563954		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	31814696		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29732464		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	16258658		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28993955, 30149380		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	30719548		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	18683213, 2208650, 9111186		★☆☆☆☆ Found in Text Mining only
Deficiency of glycerol kinase	Deficiency Of Glycerol Kinase	BEFREE	16887896, 7955386		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29164146, 29855443, 31646011		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	29843823		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	36982982	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	1822343, 8440993		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	18762570, 28974727	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28161747, 28580510, 29450584, 29632617, 30483848		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28161747, 28580510, 29132091, 29450584, 29632617, 30483848		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27658727, 28599824, 30099930, 30406893, 31034056		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19453255, 27658727, 28599824, 29322222, 30009330, 30030585, 30172742, 30235494, 31842578		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	12359139, 17292047, 17715288, 23261966, 30103083, 9441825		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	7836950, 8795845		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	23251671	Associate	★☆☆☆☆ Found in Text Mining only
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy	CLINVAR_DG	10094565, 10196701, 10320864, 10464635, 10533061, 10909857, 11039581, 11257468, 11524473, 11710958, 12233050, 12354438, 12398835, 12632325, 12754707, 14659407, 14695533, 15351422, 1549596, 15643612, 15723292, 16049303, 16077730, 16770791, 16834926, 17041906, 17145200, 17253928, 17259292, 17435279, 17726484, 17854090, 17880784, 17952667, 18583217, 18652600, 19001018, 19074751, 19206170, 19230662, 19367636, 19409785, 19530190, 19602481, 19760747, 19783145, 19793655, 19835634, 19937601, 19959795, 20098710, 20485447, 21396098, 21399986, 21515508, 21520333, 21525508, 21969337, 21972111, 22092019, 22223181, 23276443, 23453023, 23536893, 23756440, 24265581, 24292997, 24349052, 25007885, 25525159, 25612904, 25636106, 25900853, 25972034, 27122458, 27425820, 27515321, 27593222, 27708273, 27750387, 27930565, 28100912, 28318817, 28526893, 28859693, 29581631, 7611292, 7668256, 7951253, 8281150, 8840119, 9067763, 9143930, 9195228, 9298822, 9544849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy	BEFREE	10407857, 10832829, 11412872, 11726549, 12354438, 12632325, 12853135, 15094399, 15117830, 15253946, 15385445, 15641026, 16987891, 17826093, 17899313, 18562127, 19937601, 20031633, 20486769, 22092019, 22455600, 25340340, 26294044, 29901616, 7616547, 7755293, 7825571, 8504498, 8789442, 9170407, 9484605, 9618170, 9683584, 9891591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy	UNIPROT_DG	12359139, 25340340, 9170407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy	GENOMICS_ENGLAND_DG	8401582		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	31494745		★☆☆☆☆ Found in Text Mining only
Duchenne and Becker Muscular Dystrophy	Duchenne And Becker Muscular Dystrophy	BEFREE	10235436, 10371075, 10465346, 10480348, 10573008, 10619712, 11280167, 11409318, 12102170, 12206794, 12206796, 12324874, 12518196, 12632325, 1307253, 1362673, 1412702, 1433447, 1442890, 14571009, 14641995, 14695533, 14977063, 15118904, 15488030, 15610607, 15845029, 15923398, 16030524, 1621929, 16834926, 16936400, 16987891, 1731332, 17579806, 1785656, 17952667, 18487280, 1863988, 18653336, 1867267, 18752307, 18996010, 19084397, 19269824, 19409785, 1944822, 1968037, 1974880, 1979724, 1990838, 19927354, 20485447, 20598272, 21399986, 2205076, 2208650, 22239881, 2227948, 22379338, 22533379, 23224783, 23438214, 23588064, 23667215, 23729582, 23934597, 24236769, 24770780, 25131993, 25416089, 25482253, 2563842, 2585468, 2653672, 26745801, 2683261, 26911353, 27150296, 2750784, 27593222, 2821406, 2840818, 28734761, 2881877, 28943641, 28972564, 2897793, 2903662, 29246534, 29790927, 30303263, 30503614, 31379145, 31502334, 3169738, 7900621, 7936290, 7951253, 8006367, 8112741, 8160727, 8215981, 8292871, 8329890, 8429320, 8505286, 8696057, 8737397, 8818939, 8840119, 8891069, 9048922, 9350811, 9484605, 9514777		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duchenne and Becker Muscular Dystrophy	Duchenne And Becker Muscular Dystrophy	CTD_human_DG	10939566, 11409421, 12966700, 14751810, 16122626, 19309154, 21273767, 23297412, 24349043, 26930420, 29404407		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duchenne muscular dystrophy	Duchenne Muscular Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dwarfism	Dwarfism	BEFREE	24100172, 28734761, 31302886		★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	18392839, 23274062, 28082118		★☆☆☆☆ Found in Text Mining only
Dystonia 18	Dystonia	Pubtator	21104870	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	9470882	Associate	★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	27939877		★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	BEFREE	19330236		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	20019182		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	CTD_human_DG	24793134		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	26824232		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	28012019		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	33764477	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10728205, 25677308, 26727275, 27955624, 30069964		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27955624	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21442472		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	10400009, 11781950, 11899244, 20206892		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	10400009, 15671604, 9470882	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	14567970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	28448764		★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18519675		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27427791		★☆☆☆☆ Found in Text Mining only
Fibrous Meningioma	Fibrous Meningioma	BEFREE	18365142		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	11516613, 12942324, 1731332, 1875028, 19330236, 20199207, 8186706		★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	BEFREE	18574215		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	31266185		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	24793134		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	24793134, 28632504, 31266185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	24793134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	25063548		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	15824853		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	1506856, 19073314, 24835530, 29361664		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	BEFREE	15565644		★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	2889663		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	29954010		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22707356	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	12118246, 21571532, 27908661, 28727929, 7900621		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20031633, 20646909, 22937058, 25702278, 29874176, 32504006, 8580570	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11056105, 15963350, 20492678, 23667215, 23984357, 26084457, 26294044, 26311238, 27730362, 28623080, 28727929, 29267303, 29275006, 30347179, 8800037, 9563954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	21851881, 34050592, 34572079, 37671549	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	BEFREE	24318042, 29334995		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	29334995		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	10439967		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	29774402		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	8643490		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	31136739		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30928333		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	28988401, 29589297, 30396209		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20584071, 30501623, 30821524		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29197093		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	8530947	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	8352860		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	23574351		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	23574351, 31266185		★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	10800759		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17314403, 19358679, 25492562, 25692716, 29458172, 29783100, 30645771, 8114793		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	10675908, 10909857, 14977063, 20098710, 21109441, 22560791, 23299919, 24100172, 28392227, 28851655, 29582400, 31434868, 7981593, 9800909		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	16450309, 28421263, 28993955		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10025804, 15300857, 1877622, 19073314, 21109441, 23900271, 26365034, 26836830, 30051354, 7581396, 8281150, 8817332		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23900271	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	27703044		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30099930		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	14998622, 18562127		★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	23649991		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	30001927		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	28885621		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	21851881	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28497224		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	31594858	Associate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	24793134		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	25660133		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	31594858	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28316061		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	29349559		★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	29443387		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21685710	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	CTD_human_DG	24793134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyosarcoma	Leiomyosarcoma	Pubtator	34301934	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyosarcoma, Epithelioid	Leiomyosarcoma	CTD_human_DG	24793134		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma, Myxoid	Leiomyosarcoma	CTD_human_DG	24793134		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	BEFREE	26214262		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	24793134		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	39595988	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	12847521, 16835851		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	22626542		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28083668		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22372958		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15729726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31189088		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15729726, 20019182, 20598272, 24793134, 27391342, 28526284, 28939748		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29443044		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17314512		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	17314512		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	17314512	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	BEFREE	30123936		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	8445617		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	10953192, 30375314		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10025804, 15300857, 1877622, 19073314, 21109441, 7581396, 8281150, 8817332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked	Mental retardation	BEFREE	12661947		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	1605217		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	23900271		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	BEFREE	16276108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	31805121		★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	21104870		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29759558		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24100172		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	22626542		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15274041		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28079810		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	21948593	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10430828, 10711985, 10723861, 10735275, 11001938, 14999492, 1686882, 16969582, 1842672, 1865235, 2012126, 21665956, 22137979, 24213858, 2563842, 28823869, 29970176, 30342905, 30536378, 7988088, 8198142, 8795845, 8826437, 8923014, 8968750, 9027858, 9032047, 9215691, 9829280		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10102422, 10441321, 10469840, 10539906, 10619712, 10679964, 10711985, 10728205, 10735275, 10797409, 11001938, 11005802, 11121445, 11303236, 11381192, 11382192, 11409421, 11581289, 11592805, 11604045, 11917091, 11997265, 12031623, 12076680, 12091319, 12151886, 12206790, 12206794, 12206795, 12206796, 12868501, 1301134, 1301934, 1322353, 1326712, 1422199, 14519683, 14587215, 14659407, 1476571, 14977063, 14985637, 14999492, 1549142, 15773664, 16084087, 16137182, 16246949, 16297882, 16463438, 16476707, 16487708, 16516424, 1684565, 16891620, 16934185, 1714059, 17145200, 17215867, 17293855, 17303423, 17826093, 18202836, 1822343, 1822792, 18370218, 18403565, 1842672, 18511457, 18663755, 18683213, 1875028, 18946078, 1897557, 18981229, 19050039, 1918370, 19293776, 19358679, 19411172, 1944822, 19473085, 19475718, 19648295, 19783145, 19834057, 20139501, 20234391, 20434401, 20696926, 20816173, 21138941, 21256839, 21305566, 21354051, 21396098, 21673914, 2170350, 2178617, 2206159, 22318092, 2240031, 22479198, 22577143, 2261642, 22776072, 23116935, 23168016, 23299919, 23328943, 23574351, 23650001, 23671309, 23756440, 23790620, 23852291, 23900271, 2404210, 24225992, 24334334, 24505439, 24770780, 24781208, 24793134, 24835530, 25037084, 25076844, 25198047, 2568331, 25702278, 2571631, 25859012, 25998609, 26042512, 26048046, 26295289, 26321630, 26676145, 2684033, 26911353, 26940570, 27099343, 27515321, 27593222, 27750387, 27825107, 28254804, 28495050, 28727929, 28744553, 28803268, 28903883, 28937030, 29078808, 29187645, 29194448, 29379140, 29474464, 29847600, 30080716, 30360568, 30468271, 31049579, 31199961, 31591596, 31705731, 31751835, 31772832, 31817415, 3398004, 7481775, 7510932, 7611292, 7668821, 7767097, 7853367, 7858172, 7959733, 8012192, 8049584, 8186706, 8199594, 8229051, 8264699, 8281150, 8281158, 8293139, 8309507, 8317263, 8317478, 8322822, 8349821, 8358239, 8369393, 8429320, 8437625, 8614119, 8789805, 8795844, 8795845, 8799168, 8866424, 8923014, 9018440, 9018456, 9027858, 9046976, 9096754, 9111995, 9146999, 9259292, 9292873, 9312189, 9330892, 9334342, 9393893, 9429136, 9541101, 9551759, 9610800, 9710043, 9781048, 9850730		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	CTD_human_DG	10797403, 17440445, 20805873, 22906800		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	LHGDN	11795488, 14659407, 16286249, 16891620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	10227400, 10227401, 10400009, 10751817, 10767429, 10801490, 11077661, 11092670, 11381192, 11710958, 11813847, 12132577, 12354438, 12362416, 12415109, 12606026, 12632325, 12674656, 1362223, 1415217, 1415256, 14571009, 14652441, 1479604, 1496988, 15038390, 1539591, 1552537, 1570844, 15714879, 1640426, 16443396, 1644931, 16633967, 16716778, 16753346, 16849873, 16936400, 17234143, 17251337, 17259292, 17285139, 1731332, 17314512, 17420831, 17503325, 1757962, 1757963, 17601349, 18160687, 18310838, 18334989, 18583217, 18646563, 1865568, 18663755, 1867192, 1867193, 1868831, 18935728, 18957722, 18974567, 19040728, 19142179, 19144182, 1918370, 1920366, 19449433, 19461958, 1951635, 19713152, 19793655, 1990838, 19927354, 19959795, 1998344, 20031633, 20036901, 20098710, 20139501, 20350330, 20385919, 2040695, 20513101, 20598272, 2063877, 20817455, 20847377, 20886611, 20925545, 20944443, 21150048, 21151598, 21155054, 21354051, 21428760, 21523654, 21672318, 21681700, 2170350, 21784508, 2180286, 2182872, 21851881, 21901138, 2191136, 21948593, 21972111, 22000308, 22013876, 22028826, 22086232, 22102647, 22182525, 22234188, 22275054, 2227948, 22379338, 22453924, 22455600, 22486275, 22496194, 22616200, 22649443, 22776072, 23028937, 23199925, 23209572, 2325103, 23251671, 23536893, 23620649, 23732986, 23829870, 23852291, 24070816, 2407739, 24135430, 24217213, 24225992, 24282529, 24349052, 24411039, 2491009, 25076844, 25131993, 25340340, 25348330, 25355828, 25434822, 25537791, 25702278, 2573997, 25761239, 25791417, 25816009, 26042512, 26081639, 26290039, 26306629, 26365034, 26378238, 26437761, 2658563, 26631896, 26670121, 26673445, 26686765, 2672800, 26743743, 26762977, 26786758, 26796035, 2684033, 26911353, 27150296, 27502519, 27515321, 27566866, 27588424, 27612288, 27745838, 27845387, 27955624, 28152980, 28247318, 2840818, 28610567, 28742140, 28931764, 28937030, 28954035, 28974727, 2903663, 29127875, 29194448, 29215041, 29255171, 29304097, 29316663, 29317080, 29373175, 29404407, 29414413, 29535188, 29578119, 29579078, 29581631, 29631625, 29641567, 29653394, 29703249, 29771942, 29776718, 29973226, 30014611, 30149230, 30171539, 30172907, 30197181, 30457830, 3046367, 30468271, 30545545, 3059802, 30618214, 30646960, 30650618, 30742306, 30896926, 30938079, 30944907, 31049579, 31347541, 31379197, 31434868, 31472009, 31526943, 31585729, 31661024, 31727011, 31751835, 31812072, 31919629, 31992520, 32139505, 32252479, 32303261, 32311965, 32348941, 32390640, 32443516, 32504006, 32538860, 32539076, 32564389, 32596946, 32630425, 32813700, 32858918, 3292289, 32970732, 32998454, 33039804, 33050418, 33051488, 33099108, 33159473, 33176713, 33325392, 33394000, 33407808, 33458572, 33523015, 33586340, 33619882, 33723284, 33799273, 33918694, 34105245, 34120912, 34255858, 34327855, 34355126, 34453498, 34498054, 34521928, 34619646, 34685536, 34847621, 35008485, 35047755, 35047759, 35090586, 35213020, 35260651, 35269765, 35526387, 35682838, 35744792, 35776127, 35880500, 35905042, 35961103, 36077200, 36191544, 36215287, 36233175, 36240102, 36245385, 36254806, 36315559, 36360209, 36372234, 36418198, 36424846, 36450469, 36565681, 36672955, 36814107, 36911945, 36935420, 36982290, 37000376, 37047330, 37060897, 37248912, 37298193, 37625413, 37643496, 37667454, 37673649, 37673877, 37697356, 37743371, 37834164, 37878526, 37968799, 37980682, 37999748, 38028863, 38324931, 38428348, 38556332, 3859837, 38607761, 39251998, 39261505, 39285482, 39379403, 39915227, 40483375, 40483507, 7611292, 7616547, 7651473, 7668256, 7825571, 7853367, 7860733, 7887428, 7919618, 7949630, 8125473, 8213828, 8245351, 8279470, 8301652, 8317478, 8328458, 8341171, 8349821, 8387534, 8411068, 8411069, 8429320, 8474106, 8730289, 8818939, 8933672, 8950674, 8981959, 9004137, 9350811, 9395493, 9410897, 9514777, 9610800, 9683584	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	11087833, 12875769, 14681829, 20395141, 22370594, 22462762, 24010700, 24321374, 25244123, 26968818, 28250438, 28303972, 29263366, 29278896, 29847600, 29874176, 30168727, 30278058, 31689503, 31991054, 32365922, 32777771, 33246213, 33960727, 34105177, 34602497, 35396602, 35634851, 36453228, 37005891, 37501163, 37858263, 37906593, 38282008, 7825572, 8198142, 8282827, 8361505	Inhibit	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	22274137	Stimulate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	10751817	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	10073911, 10094556, 10094565, 10199978, 10227401, 10334222, 10365661, 10428208, 10449429, 10514583, 10541473, 10541573, 10570192, 10612262, 10652301, 10675908, 10722962, 10735275, 10757882, 10819578, 10854113, 10933948, 11001363, 11001938, 11005802, 11095710, 11121445, 11199330, 11257121, 11257468, 11297942, 11381192, 11404124, 11412872, 11468272, 11525743, 11563551, 11568916, 11702221, 11710958, 11726694, 11734539, 11745948, 11834588, 11875496, 11917091, 11929208, 11997063, 12031623, 12077324, 12111668, 12123485, 12132577, 12140183, 12166656, 12194388, 12206791, 12206793, 12206795, 12206797, 12206800, 12206801, 12206806, 12235112, 12235137, 12409321, 12415109, 12518196, 12589117, 12668614, 12698323, 12732930, 12736738, 12754415, 12875769, 12907150, 1301145, 1355417, 1370218, 1377655, 1406935, 1415217, 1415256, 1415326, 1427789, 14527677, 14559354, 14571009, 14585159, 1459673, 1461283, 1463011, 14681829, 1483697, 14961551, 1497954, 14985788, 15088139, 15111323, 1513469, 15172107, 1519480, 1528015, 15319032, 15351422, 15360134, 1536162, 1536178, 1537352, 1539591, 15451452, 15454965, 15527326, 1557125, 1559698, 1564523, 15655674, 1570844, 15709034, 15723292, 15725584, 15757977, 15841391, 15979033, 15991258, 1601417, 1605252, 16085461, 1609827, 16099410, 16198206, 16231306, 16321987, 16331671, 16353285, 16443393, 16443396, 16444267, 1644931, 16476707, 16496225, 16566880, 16583129, 16608904, 16627883, 16633967, 16679024, 16724091, 16753346, 1676564, 16777842, 16807118, 16808900, 16834926, 16835851, 1686882, 16874448, 16874449, 16887896, 16919955, 1701042, 17024373, 17040959, 17041906, 17041910, 1709117, 17145200, 17185606, 17217326, 17234143, 17235323, 1731332, 17314403, 17314512, 17380205, 17385798, 17420831, 17428346, 17561468, 1757962, 17684229, 17712422, 17767400, 17892583, 1789686, 17968354, 17981813, 18031759, 18079754, 18083704, 18160687, 18160999, 1821686, 18327663, 18370218, 18371406, 18372101, 1840869, 18422374, 1842672, 18430534, 18430716, 18471087, 18489762, 1849353, 18516256, 18522236, 18562127, 18570328, 18571632, 18586493, 18665159, 1867267, 18679629, 1868831, 1875028, 18752307, 18766174, 1877622, 18788904, 18842625, 1889805, 18945675, 18946078, 18957722, 18973234, 18974550, 18974551, 1897557, 18981229, 18986978, 19027585, 19139297, 19140108, 19158079, 19171194, 19186250, 19194511, 19206170, 19229108, 19239382, 19293776, 19339795, 19358679, 19359520, 19396825, 19401296, 19416897, 1944822, 1944823, 19449433, 19454857, 19455105, 19469709, 19486303, 19520047, 19602481, 19679564, 19688776, 19692354, 19713152, 19744959, 19745732, 19796079, 1980950, 19875288, 19904237, 1990838, 19937601, 19943106, 19961569, 1998344, 19997091, 20002311, 20020055, 20021451, 20031025, 20041827, 20079639, 20082121, 20098710, 20139501, 2014247, 20150322, 20161803, 20170628, 20179674, 20199207, 20235089, 2033400, 20393509, 20395141, 2040695, 20424011, 20434401, 20483958, 20492678, 20498331, 20513101, 20523110, 20551908, 20553115, 20572117, 20580709, 20613637, 20680835, 20683444, 20683981, 20700111, 2070545, 20706865, 2071150, 2072119, 20805873, 20886611, 20925545, 20944443, 20947660, 20952415, 20978473, 21109441, 21134752, 21145579, 21194019, 21194020, 21194027, 21194028, 21212803, 21251213, 21308150, 21320869, 21404337, 21428760, 21451578, 21453126, 21467999, 21468001, 21486366, 21507246, 21514860, 21523654, 21556062, 21573153, 21611204, 21665956, 21672318, 21703390, 21784508, 2178618, 21815800, 2193159, 21967249, 21969337, 22000308, 2200624, 22013876, 22017442, 22028826, 2203673, 2205076, 22052614, 2205709, 2206159, 22086232, 22102647, 22105192, 22146342, 22166894, 22182525, 22231732, 22248393, 22274137, 22318092, 22354379, 22428906, 22449443, 22454057, 22454059, 22454060, 22454067, 22454077, 22486275, 22513051, 22551778, 2260849, 2260862, 22613991, 22647146, 22650324, 22871609, 22876130, 22985905, 23075107, 23169061, 23209572, 23241744, 23283493, 23299919, 23319059, 23363418, 23381834, 23453023, 23460734, 23473647, 23521559, 23553671, 23680072, 23681067, 23695957, 23732986, 23740413, 23764775, 23784375, 23790397, 23804750, 23829870, 23831727, 2383276, 23861443, 23893308, 23907995, 23984357, 23995279, 24010700, 24065205, 24070816, 2407739, 24100172, 24135430, 24163134, 24191945, 24213858, 24217213, 24222227, 24282529, 24302611, 24308293, 24318042, 24349052, 24380394, 24443351, 24469912, 2450401, 24506779, 24620745, 24659498, 24753122, 24781208, 24789910, 24871807, 24877152, 24879640, 24892813, 2491009, 25027324, 25043804, 25047667, 25082828, 25108525, 25196347, 25198047, 25200009, 25209738, 25220406, 25310255, 25348330, 25355828, 25434822, 25492562, 25504048, 2556382, 25612243, 2563349, 25660133, 25669899, 25677308, 25692716, 2569720, 2570527, 25710459, 2573997, 25758104, 25761239, 2576185, 25791035, 25816009, 25833469, 25859012, 25935002, 25973604, 25975656, 25980936, 26050991, 26051381, 26076707, 26081009, 26081639, 26094594, 2610487, 26113184, 2614492, 26148721, 26152642, 26159373, 26284620, 26290039, 26306629, 26311238, 26316011, 26321630, 26358775, 26365034, 26415573, 2643040, 2643315, 26457695, 26457733, 2648829, 2658563, 2658592, 26604149, 26673445, 26682797, 26686765, 2672800, 2674948, 26754139, 26762977, 26786758, 26796035, 26813695, 2684033, 26849454, 26866650, 26877224, 26956251, 26968818, 26985686, 27003751, 27161598, 27215286, 27220808, 27343068, 27367833, 27378693, 27388051, 27421007, 27477497, 27485975, 27530229, 27531051, 27542949, 27560040, 27588424, 27612288, 27670721, 27716655, 27734557, 27745838, 27762666, 27834955, 27845387, 27908661, 27921261, 27927595, 27932677, 27936976, 27956144, 27975174, 27979987, 27988307, 27997693, 28028563, 28074489, 28087735, 28108217, 28139886, 28152217, 28152980, 28161362, 28171583, 28175314, 28195574, 28208626, 28250438, 28252048, 28303972, 28325281, 28338606, 28339469, 28344992, 28364229, 2837087, 28373570, 28390424, 28390761, 28391962, 28434908, 28439558, 28453658, 28469083, 28486179, 28526070, 28533404, 28539233, 28545481, 28546788, 28555643, 28566768, 28597072, 28610567, 28623080, 28623422, 28631898, 28639151, 28643790, 28653137, 28680110, 28742067, 28742140, 28765879, 2877936, 28785010, 2878873, 28793824, 28803268, 28806929, 28808339, 28821969, 28845212, 28851655, 28859693, 28865998, 2887110, 28899419, 28903883, 28918017, 28931764, 28935143, 28937030, 28951602, 2896627, 28974057, 28974147, 28974727, 28987470, 28988850, 2903663, 29038471, 29045431, 29065908, 29067652, 29067653, 29067654, 29067655, 29067656, 29067658, 29067660, 29067661, 29067663, 29067664, 29067667, 29070057, 29078808, 29086434, 29097503, 29127875, 29130550, 29167533, 29173172, 29187535, 29187645, 29194448, 29194514, 29210997, 29215041, 29242210, 29246319, 29254734, 29255171, 29263366, 29272432, 29276972, 29304097, 29305136, 29305755, 29316663, 29317080, 29351004, 29379140, 29404407, 29408646, 29408692, 29414414, 29434771, 29458111, 29458173, 29463117, 29466448, 29478899, 29481844, 29497163, 29503200, 29513363, 29546607, 29552091, 29554127, 29578119, 29579078, 29601589, 29604111, 29618008, 29631625, 29631954, 29636844, 29641567, 29641992, 29649068, 29653394, 29669436, 29669851, 29679381, 29691609, 29702637, 29723037, 29752304, 29771942, 29772070, 29774991, 29776718, 29783118, 29786150, 29789502, 29801751, 29843823, 29858053, 29864448, 29871865, 29874176, 29879154, 29894670, 29912990, 29924302, 29951819, 29958823, 29973226, 29987034, 30014611, 3001530, 30051354, 30069964, 30076486, 30093306, 30142334, 3014348, 30152022, 30155598, 30166439, 30171539, 30171540, 30171541, 30171543, 30171546, 30171547, 30171550, 30171552, 30172907, 30181262, 30181272, 30194302, 30195724, 30195767, 30206270, 30218397, 30224293, 30236982, 30275251, 30278058, 30279586, 30281092, 30282911, 30286978, 30303263, 30304405, 3030926, 30312761, 30347179, 30349485, 30366257, 30379597, 30379896, 30388618, 30394578, 30406066, 30414046, 30417024, 30448197, 30448867, 30450799, 30457830, 30518686, 30527806, 30544588, 30545545, 30571283, 3059802, 30607902, 30646960, 30648435, 30650618, 30660698, 30664850, 30689868, 30713094, 30716510, 30742306, 30755520, 30770952, 30778238, 30788383, 30794581, 30846748, 30854433, 30875388, 30883742, 30888583, 30896926, 30901735, 30904609, 30912260, 30914715, 30938079, 30939245, 30944252, 30953145, 30964048, 30972156, 30988454, 30990876, 30995108, 31017936, 31028078, 31039133, 31049579, 31062609, 31069818, 31083420, 31095755, 31129119, 31139960, 31142604, 31147635, 31168774, 31188496, 31250930, 31257147, 31266455, 31289969, 31295065, 31322741, 31337111, 31340406, 31347541, 31348492, 31379145, 31379197, 31411676, 31412923, 31416775, 31434868, 31465894, 31502334, 31521486, 31542086, 31546754, 31566614, 31574188, 31585729, 31586095, 31611157, 31612351, 31620435, 31628052, 31639376, 31678734, 31683098, 31683640, 31696230, 31704708, 31719299, 31720560, 31727011, 31755636, 31771272, 3177465, 31793735, 31801386, 31812072, 31821107, 31832414, 31836945, 31849191, 3287171, 3319190, 3346018, 3410474, 3482147, 3594934, 3600794, 3607877, 3614347, 3659917, 3678494, 3680227, 3698449, 3742857, 3773991, 6585184, 6729462, 7333021, 7334502, 7477755, 7496177, 7514447, 7573761, 7580241, 7592992, 7617576, 7633186, 7639748, 7651473, 7657792, 7668256, 7726234, 7738097, 7767097, 7783429, 7802009, 7824089, 7825572, 7836950, 7865881, 7881285, 7887428, 7942846, 7962190, 7981592, 7981593, 7987307, 8082675, 8083345, 8095479, 8101987, 8160727, 8168831, 8186705, 8190471, 8198142, 8199594, 8209894, 8214349, 8246010, 8258524, 8262511, 8263549, 8281135, 8281150, 8281158, 8282827, 8301643, 8327067, 8328458, 8349821, 8353425, 8353491, 8361505, 8375105, 8375425, 8387534, 8401582, 8406431, 8411068, 8456832, 8458432, 8488877, 8490621, 8499922, 8502196, 8504498, 8505286, 8518789, 8533812, 8533818, 8556818, 8585572, 8643490, 8730289, 8789805, 8817325, 8817332, 8826437, 8836495, 8840114, 8891069, 8891229, 8894415, 8894689, 8934518, 8981959, 8990133, 9029833, 9032047, 9040743, 9076722, 9079621, 9111186, 9146999, 9150736, 9188790, 9191779, 9215691, 9259292, 9267845, 9267847, 9274726, 9299538, 9334342, 9415684, 9526164, 9543354, 9551611, 9551759, 9608559, 9628192, 9636661, 9800909, 9829280, 9887326		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	CLINVAR_DG	10196701, 10464635, 10909857, 14659407, 15351422, 16049303, 16566881, 16770791, 17041906, 17259292, 17726484, 17854090, 18652600, 19206170, 19760747, 19793655, 19823873, 19937601, 19959795, 20485447, 2136098, 21396098, 21399986, 21515508, 21520333, 21969337, 22223181, 23453023, 23536893, 23756440, 25007885, 25244321, 25525159, 25972034, 26911353, 26968818, 27593222, 27708273, 27854218, 27930565, 28859693, 9067763, 9760747		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	CTD_human_DG	10939566, 11409421, 12966700, 14751810, 16122626, 19309154, 21273767, 23297412, 24349043, 26930420, 29404407		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	LHGDN	11922612, 12031623, 12206800, 12606026, 12754415, 12754707, 12920092, 14652441, 15643612, 16295426, 16331671, 16461336, 16883524, 16917894, 18059005, 18160999, 18639760, 18935728, 18957474, 18957722, 19173203		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	UNIPROT_DG	12632325, 24302611, 7981690, 8401582, 8817332, 9851445		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	GENOMICS_ENGLAND_DG	7999513, 8401582		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	14519683, 18586493, 18684626, 22137979		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	LHGDN	19009915		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	11665864		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	17440445, 18340010, 20675662		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	BEFREE	20206892		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	18061067	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31417141		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	14998622, 29732464		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	27486657		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	14711882		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10400009, 10490068, 10612262, 10751817, 12206799, 12206807, 12734659, 12899872, 1370218, 15385445, 1579251, 16476707, 16874449, 16987891, 1714059, 17314403, 18160999, 18706718, 19401296, 20952415, 21212803, 21320869, 21325027, 2178617, 2193159, 22479198, 2260862, 22626542, 24225992, 25416089, 26594870, 2668783, 2677830, 27417533, 27730362, 27750387, 2840818, 29874176, 30007583, 30206270, 30414046, 30648435, 30723005, 30816495, 31130422, 31821107, 7747013, 7787263, 8217214, 8352860, 8411069, 8423832, 8452597, 8505286, 8737397, 8789805, 8832134, 9032047		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy with Abnormal Lipid Metabolism	Myopathy With Abnormal Lipid Metabolism	BEFREE	22137979		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	12619170	Stimulate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	29691609, 31188496, 9364465		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	15146016	Associate	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	19793655, 22968481, 25348330	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	15773664, 17487865, 26018658, 8795845		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	LHGDN	17487865		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	30730308, 33955002	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	17487865, 26018658		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30909962	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	8349821	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	15729726, 16998682, 17384672, 21057539, 24793134, 27391342, 28546788, 30575736		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	1324225		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	28885621		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	11303236	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	22616200, 31683640	Associate	★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	1301145		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36037157	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28974727		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	10094565, 10447257, 15757977, 1579251, 1686882, 18663755, 19961569, 20234391, 22428906, 22613991, 23671309, 23756440, 24222227, 25761239, 26457695, 2663232, 2674948, 26911353, 27150296, 27230049, 28453658, 28545481, 28765879, 28803268, 28974147, 29067656, 29173172, 29579078, 29610182, 29847600, 29973226, 30373198, 31832414, 8460531, 9215691		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	LHGDN	16276108		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	40156242	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	8933343	Associate	★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	BEFREE	7616540		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30083134		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23891823, 27468902, 27759063, 29082431, 29693762, 30623213, 30853658, 31622774		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ocular albinism, type I	Ocular albinism	BEFREE	12515581		★☆☆☆☆ Found in Text Mining only
Ocular albinism, type II	Ocular albinism	BEFREE	7616540		★☆☆☆☆ Found in Text Mining only
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	BEFREE	10439967, 10502831, 17091258		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	14997007		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	22487062, 24070816, 29946973, 30913006, 7934978		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	24070816	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	BEFREE	31051315		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	15312249, 15940361, 15967485, 16753015, 17295608, 17620052, 18505373, 18810303, 21104233, 21344539, 23133532, 25980946, 27509834, 27744012, 27924381, 28527105, 29018923, 29632617, 29653285, 29788459, 29931598, 30232913, 30235494, 30433815, 30537473, 30601581, 30660675, 31378815, 31720706, 31823822		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15040830, 15125790, 15176998, 15355556, 15777680, 15782282, 15824850, 16168727, 16355283, 16598376, 16939402, 17002564, 17243864, 17451372, 18597038, 19113921, 19338455, 20064633, 21773993, 23522429, 23891823, 24285685, 25980946, 26191288, 26458888, 27311723, 27492435, 27509834, 27924381, 27966104, 27989648, 28122309, 28144701, 28161747, 28175980, 28188561, 28265896, 28315954, 28373146, 28521691, 28599824, 28695762, 28748386, 28854271, 28936598, 29062234, 29245225, 29330445, 29397409, 29541794, 29564475, 29632617, 29637658, 29653285, 29691807, 29738949, 29740667, 29806852, 29860063, 29924424, 30172742, 30232913, 30235494, 30537473, 30573396, 30610244, 30660675, 30690799, 30963310, 30972028, 31025211, 31067339, 31153568, 31188908, 31189982, 31273389, 31352490, 31378815, 31432256, 31628810, 31646011, 31669252, 31720706, 31740343, 31754754, 31786628, 31820121		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	15824850, 29769605		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	18690485, 28413771, 30312984		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31646011		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	21344539		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	14997007		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15729726		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	20598272		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	20598272	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31646011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	11430802		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	12833401, 31587319		★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	23574351		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28611442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymyositis	Polymyositis	BEFREE	1822343, 22137979, 8440993		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	26824232, 29101669, 30347474		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	16580273		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31189088		★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	24070816		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	27509834, 29574518, 29788459		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	23521559, 26316011, 27071500, 30010933, 31612351		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	7977353	Associate	★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	BEFREE	3177388, 6885047		★☆☆☆☆ Found in Text Mining only
Retinoschisis, Juvenile, X-Linked	Retinoschisis, X-Linked	BEFREE	3178553		★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	19793655, 21104870, 32978841	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	24793134, 29339778, 29768479, 30388618, 31054580		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11930657, 27509834, 28854271, 29574518, 29788459, 31823822		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	10430828, 11665864, 9027858		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24793134, 31266185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	12025436, 15124027, 15184234, 8445617		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	8445617	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	10714584, 1406935, 7663524, 7783429, 8012192, 8900232, 9781048		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	29458172		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	10722962, 12145744, 7957365		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	23831727, 30847477		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	30764835		★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	30153979		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	1822794, 22137979, 23631896, 24620745		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	20886625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	BEFREE	31795399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	31266185		★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	31721088		★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	26631896	Associate	★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	GWASCAT_DG	28081371		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	12393179		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	12393179	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	30099930		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	18340010		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	15565644, 19396825		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28993955		★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	24223098, 29129153		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37694778	Associate	★☆☆☆☆ Found in Text Mining only
Uruguay Faciocardiomusculoskeletal Syndrome	Uruguay faciocardio-musculoskeletal syndrome	Pubtator	40156242	Associate	★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar myopathy	Pubtator	8214011	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	25857312		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	27900428, 29564475		★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	10196701, 10480348, 10573008, 10761838, 11381192, 11412872, 11795488, 12577122, 12606026, 1301134, 1307253, 1363782, 14659407, 15024733, 15118904, 1564523, 15845029, 16030524, 1613762, 1640426, 16439068, 16718354, 17041906, 17141273, 1757963, 17620052, 1864612, 18653336, 19084397, 19269824, 19409785, 1944822, 19473085, 20381484, 21354051, 21774744, 2261642, 22776072, 22792070, 23224783, 23438214, 23601510, 24225992, 25131993, 25612904, 2613240, 26295289, 26364686, 2653672, 26911353, 27150296, 27593222, 27761893, 27979502, 2821406, 28680110, 28734761, 28746422, 29356845, 29624722, 29682908, 29847600, 30352768, 30355512, 31379145, 31628810, 7713492, 7881286, 7897627, 7951237, 8112741, 8281150, 8411067, 8543940, 8614119, 8730289, 8808315, 8840119, 9007319, 9048922, 9664586		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	1463011, 19339795, 22308874, 2837087, 7955386		★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	2568332		★☆☆☆☆ Found in Text Mining only