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

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Becker Muscular Dystrophy	becker muscular dystrophy	rs886042840, rs398124002, rs1064796764, rs727503864, rs1557380616, rs886043375, rs779739455, rs1569563740, rs1569564916, rs398124099, rs1556875224, rs796065325, rs1569546198, rs1603636537, rs398123954, rs794726993, rs398123909, rs5030730, rs376745644, rs1060502639, rs398124105, rs1556834513, rs1569558953, rs863225001, rs1601809011, rs1557047827, rs886042106, rs794727666, rs398123935, rs1569560475, rs128626236, rs398123985, rs373286166, rs1602169535, rs104894787, rs398124082, rs587776747, rs1556852444, rs753662330, rs763936813, rs398124034, rs796523999, rs2147483647, rs128626237, rs1603632322, rs886044406, rs398122853, rs182575709, rs1556880354, rs267606771	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 3B	rs398123839, rs398122853, rs104894797, rs886042604, rs398123828, rs794726993, rs398123909, rs398123981, rs1603222556, rs1057518962, rs863224999, rs373286166, rs1057518834, rs128627255, rs398123923	N/A
Duchenne And Becker Muscular Dystrophy	duchenne and becker muscular dystrophy	rs794727661, rs1556930579	N/A
Duchenne Muscular Dystrophy	duchenne muscular dystrophy	rs1602456486, rs863225012, rs398122853, rs1603635953, rs1060502643, rs398124099, rs1557315928, rs1603632312, rs182575709, rs128626239, rs1603632326, rs1569560739, rs1603445344, rs863224981, rs398123892, rs797045526, rs1603615883, rs1556853298, rs1602459252, rs1556806356, rs128625227, rs1603631244, rs1569559106, rs398123952, rs2090513299, rs1603221854, rs863225002, rs1602467787, rs1060502626, rs1556040444, rs886043640, rs1603447081, rs128626248, rs1603634199, rs1569559097, rs398124040, rs398123923, rs398124072, rs1557291242, rs886039785, rs1602938385, rs1557011973, rs1216000876, rs1569559110, rs398123979, rs2080979223, rs1603264731, rs863224992, rs398123872, rs794727863, rs1060502640, rs794727499, rs1557058350, rs886044490, rs1403865104, rs895755247, rs104894797, rs1603634743, rs1556641290, rs1602669026, rs863225011, rs1603636537, rs1060502641, rs886042875, rs1603634298, rs1556656818, rs128626240, rs1603633486, rs868688877, rs398124003, rs1603452207, rs863224980, rs398123893, rs1064793479, rs146880270, rs1603628479, rs2040217313, rs773643220, rs128625228, rs1603631367, rs144732570, rs398123953, rs2094827204, rs1603222424, rs777864641, rs398123846, rs1602468968, rs1060502625, rs1557291229, rs886043676, rs1603631757, rs1557380616, rs128626249, rs1603634203, rs398124042, rs1557304860, rs878854621, rs374744331, rs398124073, rs1557292678, rs886041344, rs1603222095, rs1557291170, rs1603632248, rs1569559849, rs398123980, rs2040711393, rs1603280686, rs756949497, rs398123873, rs1603437254, rs1557380496, rs794727661, rs1385794215, rs886044502, rs1603419074, rs1602369798, rs1603634744, rs1060502653, rs1602695597, rs863225010, rs398123827, rs1060502639, rs398124104, rs398124032, rs1603634608, rs1557218076, rs128626241, rs1603633541, rs1569558953, rs398124007, rs398124044, rs863224979, rs398123901, rs1569564281, rs1064793986, rs863224977, rs1603628482, rs1556875224, rs398123929, rs376745644, rs1556875180, rs128625229, rs1603631368, rs1569273905, rs2094864356, rs1603222574, rs863225001, rs398123852, rs1602469251, rs1060502630, rs1010666282, rs886043699, rs1601809011, rs1557047827, rs128626250, rs1603634206, rs770183212, rs770845480, rs1569463953, rs398124074, rs1557322834, rs886042106, rs1603280511, rs128626231, rs1603632309, rs1569562936, rs398123981, rs2097447247, rs1603280745, rs863224988, rs398123881, rs1603437272, rs1060502647, rs1556035817, rs886044582, rs768892830, rs1602409174, rs1603634745, rs1064792968, rs1602696519, rs863225009, rs1603636541, rs1555998436, rs886042983, rs1239018406, rs1603633545, rs398124008, rs1603513680, rs863224978, rs398123903, rs1569562466, rs1064793964, rs863224976, rs1603628483, rs1556876346, rs398123934, rs1569230293, rs1340365803, rs2147483647, rs373428963, rs1569526122, rs398123957, rs2095370524, rs1603222897, rs398123853, rs1602469384, rs1057524037, rs1556028034, rs886043822, rs128626251, rs1603634207, rs398124050, rs1557218093, rs762250680, rs1060502624, rs398124075, rs1557058415, rs1603452196, rs146071084, rs1603632311, rs1569562952, rs2098280263, rs1603280796, rs863224987, rs398123882, rs1603441629, rs1060502637, rs1556503937, rs1057518207, rs1603631365, rs1602417503, rs5030730, rs1603634746, rs2040714340, rs1602730254, rs762394978, rs398123828, rs1601808288, rs1060502636, rs398124105, rs1556764922, rs886043041, rs1602169535, rs1557084067, rs1556834513, rs1339088514, rs1569230215, rs398124012, rs863224996, rs398123905, rs1556665303, rs1603628485, rs1295394996, rs1556656851, rs104894787, rs1603631705, rs1569562941, rs398123960, rs1425702864, rs1603222922, rs863225000, rs72468700, rs1603137168, rs1060502633, rs794726993, rs1556929259, rs886043909, rs1602727611, rs1557396600, rs128626252, rs1603634299, rs398124051, rs1557038061, rs878854619, rs1060502621, rs398124078, rs1556780579, rs886042154, rs142500746, rs1556930769, rs1603632314, rs1057522454, rs2098391032, rs1603430178, rs863224986, rs398123883, rs1603447057, rs1060502634, rs794727666, rs1603513803, rs1556656456, rs1181271457, rs863224975, rs1569528138, rs1603634747, rs398123935, rs2041309291, rs1602947628, rs863225008, rs398123832, rs1601808296, rs1060502661, rs1556656847, rs886043084, rs1557300135, rs128626242, rs398123943, rs1569563751, rs398124033, rs863224995, rs398123909, rs1569169560, rs753662330, rs1603628487, rs1556852444, rs1602451773, rs1557316295, rs1603631744, rs1569230406, rs398123962, rs2097850041, rs1603223025, rs863224999, rs398123856, rs1603149954, rs1060502656, rs794727030, rs1556930839, rs886043989, rs1557374667, rs128626253, rs1603634603, rs398124055, rs1557320194, rs878854618, rs1603634748, rs765445866, rs1556930579, rs886042495, rs1254776844, rs104894789, rs128626232, rs1603632316, rs149106712, rs398123990, rs2063781031, rs1603430181, rs762860653, rs398123884, rs1603447072, rs1060502615, rs797044764, rs1603513817, rs1556764880, rs1602765856, rs1602454605, rs863225018, rs398123937, rs2044445392, rs1603253563, rs863225007, rs398123833, rs1601808326, rs1060502635, rs373286166, rs1557218131, rs763936813, rs1602460062, rs1556035795, rs128626243, rs1603633864, rs1569565192, rs398124034, rs863224991, rs398123912, rs1429329309, rs1603629988, rs886039681, rs1602145926, rs1556046080, rs128625230, rs1603631752, rs1569559822, rs398123963, rs2098390819, rs794727770, rs398123862, rs1603150335, rs1060502648, rs794727123, rs1557303544, rs748769566, rs1603222556, rs796523999, rs128626254, rs1603634604, rs398124058, rs1233380601, rs1603635326, rs1060502645, rs398124091, rs886042499, rs1603513684, rs1556665052, rs104894788, rs772220893, rs1569469298, rs1064325, rs2080514041, rs1603445277, rs863224985, rs398123885, rs1060502627, rs201361100, rs1603513828, rs1556789913, rs1602338283, rs1602454639, rs863225017, rs587776747, rs1569460607, rs398123938, rs2067953453, rs1601864055, rs863225006, rs398123834, rs1601808608, rs1060502629, rs1557369413, rs1603432076, rs1556037455, rs128626244, rs1603633868, rs1569559204, rs863224990, rs398123915, rs1569460722, rs1556790316, rs1603630431, rs886039532, rs1602416457, rs1556256329, rs128626234, rs1603631756, rs1569526579, rs398123970, rs2042979418, rs1603226023, rs863224998, rs398123863, rs1603150993, rs1060502619, rs794727357, rs1557380685, rs886044324, rs1602765633, rs104894790, rs1603634607, rs1057518962, rs398124060, rs1557294228, rs128627256, rs1603635331, rs1064792967, rs398124092, rs1557369493, rs886042604, rs1603513697, rs1556917057, rs128626233, rs1603632322, rs1569401103, rs398123991, rs2036834025, rs1603445278, rs863224984, rs398123887, rs1557084128, rs796065333, rs1603514271, rs1557322201, rs1602360475, rs1602454747, rs863225015, rs1569530432, rs398123942, rs2068036881, rs1602056443, rs863225005, rs398123835, rs1601810667, rs1060502644, rs727503850, rs1557369991, rs886043251, rs1603441550, rs1556853039, rs128626245, rs1603634079, rs1569186252, rs398124036, rs863224989, rs398123919, rs1569556943, rs1556656184, rs1603631225, rs886039478, rs886043597, rs1556656487, rs201366610, rs1603632117, rs1569528101, rs398123971, rs2046036327, rs1603264641, rs863224997, rs398123865, rs374222301, rs1060502646, rs794727359, rs1556802319, rs886044402, rs1602766499, rs1557320151, rs1603634609, rs398124062, rs1557011929, rs128627257, rs1603635949, rs1060502659, rs398124094, rs1556764934, rs886042747, rs1603618489, rs1557305645, rs1209389771, rs398123997, rs2063903818, rs1603445283, rs863224983, rs398123888, rs1060502652, rs794727862, rs1603514272, rs1557359217, rs1603631219, rs1602455302, rs863225014, rs1603631240, rs1569451994, rs398123948, rs2068038543, rs1602937974, rs863225004, rs398123838, rs1602467530, rs72470513, rs727503802, rs1557374482, rs886043375, rs1602766725, rs1556880354, rs128626246, rs1569563740, rs1569558906, rs398124038, rs878854366, rs398123920, rs1569420861, rs1556764743, rs1557322838, rs886039535, rs1602728959, rs1556962223, rs267606770, rs1603632119, rs1569533965, rs398123973, rs2052700227, rs1603264659, rs863224994, rs398123866, rs1603151699, rs1060502623, rs794727422, rs1556809704, rs1602766531, rs1602146767, rs747937552, rs1057518692, rs398124068, rs863225013, rs1603635950, rs1060502620, rs398124096, rs1556962271, rs886042840, rs1603632245, rs128626238, rs1603632324, rs1569563678, rs398123999, rs1603445332, rs863224982, rs398123889, rs1064794569, rs794727890, rs201818335, rs1557362198, rs1603634749, rs1602455747, rs128625226, rs1603631241, rs1569452000, rs398123950, rs2078916448, rs1556656077, rs863225003, rs398123839, rs1602467590, rs1557079469, rs727503864, rs1055371114, rs886043496, rs1603419076, rs128626247, rs1603634105, rs1569533147, rs398124039, rs1057517960, rs779739455, rs1569213903, rs1556764753, rs1057518284, rs886039536, rs72466562, rs1556962571, rs128626235, rs771425504, rs1569546174, rs398123977, rs2077781516, rs1603264705, rs863224993, rs398123870, rs1603432059, rs1060502632, rs794727463, rs1557058308, rs886044455, rs1602766655, rs1602337330, rs1603634742, rs1057520764, rs398124070	N/A
Muscular dystrophy	muscular dystrophy	rs1557058294, rs1603636710	N/A
Myopathy	myopathy	rs1057518866, rs1603452200	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
Breast Cancer	Breast cancer specific mortality in estrogen receptor negative breast cancer, Breast cancer	N/A	N/A	GWAS
Cardiomyopathy	left ventricular noncompaction cardiomyopathy, Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Conduction Disorder Of The Heart	conduction disorder of the heart	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Heart Failure	heart failure	N/A	N/A	ClinVar
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Mental retardation	non-syndromic X-linked intellectual disability	N/A	N/A	GenCC
Ovarian cancer	Epithelial ovarian cancer	N/A	N/A	GWAS
Restrictive cardiomyopathy	Familial restrictive cardiomyopathy, restrictive cardiomyopathy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Disease	Associate	18061067
Addison Disease	Associate	27087023
Adrenal Hyperplasia Congenital	Associate	1737859
Adrenal Insufficiency	Associate	18762570
Adrenoleukodystrophy	Associate	12354438
Agnosia	Associate	22000308
Airway Obstruction	Inhibit	39649544
Arrhythmias Cardiac	Associate	26631896, 34050592, 37671549
Atrial Flutter	Associate	15546999
Atrial Standstill	Inhibit	15546999
Atrioventricular Block	Associate	26631896
Attention Deficit Disorder with Hyperactivity	Associate	28974727
Autism Spectrum Disorder	Associate	28392227, 28974727
Autistic Disorder	Associate	25167861
Barth Syndrome	Associate	40156242
Body Integrity Identity Disorder	Associate	22262150
Brain Diseases	Associate	33955002
Bulbo Spinal Atrophy X Linked	Associate	40156242
Cardiomegaly	Associate	11092670
Cardiomyopathies	Associate	11092670, 12875769, 19449433, 20031633, 22937058, 28931764, 31049579, 37643496, 7635962, 7825571
Cardiomyopathy Dilated	Associate	11092670, 12354438, 15671604, 20031633, 21851881, 23870371, 25537791, 30057996, 30150400, 34011823, 34050592, 37671549, 7616547, 7635962, 7825571, 9470882
Cardiomyopathy Hypertrophic	Associate	30150400
Cataract Age Related Nuclear	Associate	32337810
Chromosome Disorders	Associate	8981959
Cognition Disorders	Associate	12362416, 20098710, 26081639, 28392227, 30135256, 30646960, 31434868
Coloboma	Associate	22707356
Color Vision Defects	Associate	17503325
Colorectal Neoplasms	Associate	36652260
Cone Dystrophy X Linked 1	Associate	33494189, 9032047
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	34355126
Conversion Disorder	Associate	34371182
Death	Associate	18061067
Depressive Disorder	Associate	36982982
Developmental Disabilities	Associate	18762570, 28974727
Distal myopathy Nonaka type	Associate	23251671
Dystonia 18	Associate	21104870
Dystonic Disorders	Associate	9470882
Ectrodactyly cardiopathy dysmorphism	Associate	37501163
Epidermolysis Bullosa Junctional	Associate	33764477
Epilepsy	Associate	27955624
Facial Hemiatrophy	Inhibit	20385919
familial dilated cardiomyopathy	Associate	10400009, 15671604, 9470882
Fasciculation	Inhibit	22937058
Fasciculation	Associate	8580570
Fibrosis	Associate	37501163, 37697356
Genetic Diseases Inborn	Associate	16443396, 8423609
Genetic Diseases X Linked	Associate	23028937
Hearing Loss	Associate	22707356
Heart Diseases	Associate	20031633, 20646909, 22937058, 25702278, 29874176, 32504006, 8580570
Heart Failure	Associate	21851881, 34050592, 34572079, 37671549
Herpesviridae Infections	Associate	18061067
Hypertrophy	Associate	8530947
Hypoadrenocorticism Familial	Associate	11092670, 18762570, 34689766, 8429320
Idiopathic dilation cardiomyopathy	Associate	21851881
Immunologic Deficiency Syndromes	Associate	31049579
Intellectual Disability	Associate	23900271
Ischemia	Associate	31751835
Kidney Failure Chronic	Associate	21851881
Language Development Disorders	Associate	31594858
Learning Disabilities	Associate	31594858
Leiomyoma	Associate	21685710
Leiomyosarcoma	Associate	34301934
Limb girdle muscular dystrophy type 2C	Associate	2684033
Lipoma	Associate	39595988
Melanoma	Associate	17314512
Mental Disorders	Associate	26081639, 8445617
Microphthalmia Isolated 1	Associate	23276443
Mobility Limitation	Associate	33159473
Muscle Cramp	Associate	15654055, 16633967, 19793655, 2063877
Muscle Neoplasms	Associate	12415109, 12606026, 15714879, 19530190, 21104870, 23251671, 34847621, 36254806
Muscle Rigidity	Associate	19713152
Muscle Weakness	Associate	11303236, 27515321, 28247318, 29305136, 30057996, 30938079, 32504006, 36372234, 37673877
Muscular Atrophy	Associate	17601349, 27502519, 34105245, 34260377, 36418198, 37248912, 39595988
Muscular Atrophy	Inhibit	37858263
Muscular Atrophy Spinal	Associate	21948593
Muscular Diseases	Associate	20489141, 2180286, 2840818, 30057996, 32528171, 32965001, 34050592, 40320137, 8214011
Muscular Dystrophies	Associate	11303236, 16716778, 1719482, 18762570, 19835634, 20696926, 2684033, 2840818, 28937030, 29581631, 30468271, 31671740, 34355126, 35734998, 35790299, 36372234, 36539515, 36672955, 8317478, 8349821, 8825917, 9610800
Muscular Dystrophies Limb Girdle	Associate	39408683, 8411069
Muscular Dystrophy Duchenne	Associate	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
Muscular Dystrophy Duchenne	Inhibit	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
Muscular Dystrophy Duchenne	Stimulate	22274137
Muscular Dystrophy Emery Dreifuss	Associate	10751817
Myalgia	Inhibit	15654055
Myalgia	Associate	8530947
Myocardial Infarction	Associate	18061067
Myoglobinuria	Associate	21104870
Myopathies Structural Congenital	Associate	40156242
Myositis	Stimulate	12619170
Myositis Inclusion Body	Associate	15146016
Myotonia Congenita	Associate	19793655, 22968481, 25348330
Myotonic Dystrophy	Associate	30730308, 33955002
N syndrome	Associate	20696926
Nasopharyngeal Carcinoma	Associate	30909962
Necrosis	Associate	8349821
Neoplasm Recurrence Local	Associate	34326338
Neoplasms	Associate	20598272, 26544626, 27391342, 34301934, 35753349
Neoplasms	Inhibit	35790299
Neoplasms Muscle Tissue	Associate	36191544
Nephrosis Lipoid	Associate	11303236
Nerve Degeneration	Associate	37999748, 38324931
Nervous System Diseases	Associate	22616200, 31683640
Neuroacanthocytosis	Associate	39292690
Neuroblastoma	Associate	36037157
Neurologic Manifestations	Associate	8411068
Neuromuscular Diseases	Associate	40156242
Neurotoxicity Syndromes	Associate	31434868
Night blindness congenital stationary	Associate	8933343
Optic Atrophy with Negative Electroretinograms	Associate	10227401
Osteogenesis Imperfecta	Associate	24070816
Paralyses Familial Periodic	Associate	8214011
Parkinsonian Disorders	Associate	20598272
Pseudoachondroplasia	Associate	24070816
Renal Insufficiency	Associate	37858263
Respiratory Insufficiency	Associate	30618214, 36372234
Retinal Neoplasms	Associate	17503325
Retinitis Pigmentosa	Associate	7977353
Rhabdomyolysis	Associate	19793655, 21104870, 32978841
Ring Chromosome 20 Syndrome	Associate	21151598
Schizophrenia	Associate	8445617
Sex Chromosome Aberrations	Associate	28771244
Signs and Symptoms	Associate	36233175
Skin Manifestations	Associate	39285482
Small Fiber Neuropathy	Associate	10632567
Tachycardia Ventricular	Associate	26631896
Teratoma	Associate	33799273
Tetralogy of Fallot	Stimulate	12393179
Urinary Bladder Neoplasms	Associate	37694778
Uruguay Faciocardiomusculoskeletal Syndrome	Associate	40156242
Vacuolar myopathy	Associate	8214011
Walker Warburg Syndrome	Associate	1731332