NEB (nebulin)

Gene

• Entrez ID: 4703
• Gene name: Nebulin
• Gene symbol: NEB
• Synonyms (NCBI Gene): AMC6, NEB177D, NEM2
• Chromosome: 2
• Chromosome location: 2q23.3
• Summary: This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6709752	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs34532796	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs35654397	C>G,T	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs74482326	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs77826191	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80344795	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs111293259	C>G,T	Pathogenic	Splice donor variant
rs111300270	C>A,T	Likely-pathogenic	Splice acceptor variant
rs112517981	C>A,G,T	Likely-pathogenic	Splice donor variant
rs112544116	C>A,G,T	Likely-pathogenic	Splice donor variant
rs113091511	C>G,T	Pathogenic	Splice donor variant
rs113326313	C>A,T	Likely-pathogenic	Splice acceptor variant
rs114089598	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs117178114	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs139798654	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, intron variant, missense variant
rs141155976	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, intron variant, missense variant
rs142540692	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143473183	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs143644938	C>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs143933602	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, missense variant
rs144180493	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs144595998	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs146616621	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147159176	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs148794372	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs149881695	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs182847302	C>T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs182866658	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs185433570	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs189623595	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs190336010	A>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs191579691	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs193042896	C>A,G,T	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant, intron variant, stop gained
rs199695976	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199756204	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199890298	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200251444	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200307392	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, intron variant, missense variant
rs200425929	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs200545007	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200624735	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs200719359	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200990309	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201141958	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201169452	A>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201462794	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201553266	C>T	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201636991	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs201707021	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs201962649	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202139330	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202234374	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs368075131	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs368230090	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs368625295	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs370053963	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs370098540	G>A,C,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant
rs371015050	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371265681	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373449008	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs373926259	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373946448	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs374562457	C>A,T	Likely-pathogenic	Splice donor variant
rs374874999	G>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, coding sequence variant
rs375145370	T>C	Pathogenic, pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs375543045	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs375628303	C>A,G,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs375909006	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376199241	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs376511134	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs398124167	C>A,T	Pathogenic	Splice donor variant
rs398124172	CTCGTTTATTT>-	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs533027587	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs539819851	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs552379239	G>A,C	Likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs555516831	G>A,T	Uncertain-significance, pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs557870969	C>T	Likely-pathogenic	Splice donor variant
rs587780397	ATAAG>CTC	Pathogenic	Coding sequence variant, frameshift variant
rs587780399	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs727504033	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs745410848	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs745420110	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs746999970	C>T	Likely-pathogenic	Splice donor variant
rs749452641	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs750585238	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs750748717	C>A	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs752893483	T>C	Likely-pathogenic	Splice acceptor variant
rs753417634	A>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs754369875	G>A	Pathogenic	Coding sequence variant, stop gained
rs755531536	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs756352186	C>G,T	Likely-pathogenic	Splice donor variant
rs756363951	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs757726895	CTGTGCCAGAGCTGG>-,CTGTGCCAGAGCTGGCTGTGCCAGAGCTGG	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs757882235	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs760082702	C>A,G	Likely-pathogenic	Splice acceptor variant
rs761964375	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs762278237	C>T	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant, intron variant
rs765403861	->ATAG	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs767302772	C>A,T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, stop gained
rs767693366	C>G	Likely-pathogenic	Splice acceptor variant
rs768708852	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs769345284	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs770192528	AGT>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs770797137	A>G	Likely-pathogenic	Splice donor variant
rs772366030	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs773482640	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs773952935	A>G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs774495973	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs776569219	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs776982138	GA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs777819332	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs778593702	C>T	Pathogenic	Splice donor variant
rs779909544	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, intron variant
rs780022652	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs780343350	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs781185019	G>C	Pathogenic	Coding sequence variant, stop gained
rs781754253	T>C,G	Likely-pathogenic	Intron variant
rs786204430	A>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs786204576	AC>CA	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs797045735	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045736	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs878854368	GATT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886041851	C>T	Pathogenic	Splice acceptor variant, intron variant
rs886041998	A>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs886042141	TTCGGACGCGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043631	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886044005	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs928945364	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1057516348	CCT>GA	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1057516381	C>A	Likely-pathogenic	Splice acceptor variant
rs1057516676	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1057516739	ATCAC>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1057516758	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516938	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516996	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1057517317	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517360	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517399	A>G	Likely-pathogenic	Splice donor variant
rs1057517977	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, stop gained, intron variant
rs1057518200	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057518353	T>C	Likely-pathogenic	Splice acceptor variant
rs1057524581	C>A,T	Likely-pathogenic	Splice donor variant
rs1064794461	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796311	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1131691547	C>T	Pathogenic	Splice donor variant, intron variant
rs1131691787	C>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1159756073	TA>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1180339426	AG>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1180407562	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1185654671	A>G	Likely-pathogenic	Splice donor variant
rs1197561990	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1212374733	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1220787593	C>T	Likely-pathogenic	Splice donor variant
rs1242775893	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1255445731	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs1259297878	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1319778592	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1336053002	C>A,T	Pathogenic	Intron variant, splice donor variant
rs1337287633	A>G	Likely-pathogenic	Splice donor variant
rs1340063197	TGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1342507012	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1371849916	C>T	Pathogenic	Splice acceptor variant
rs1373493309	G>A,C	Likely-pathogenic	Stop gained, intron variant, synonymous variant, coding sequence variant
rs1374971806	A>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1386238241	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1390379576	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1391372707	C>A,G	Pathogenic	Intron variant, stop gained, missense variant, coding sequence variant
rs1392500142	T>A,G	Pathogenic	Splice acceptor variant
rs1405498595	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1428597732	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs1443738549	C>T	Likely-pathogenic	Splice donor variant
rs1446930968	C>A,T	Likely-pathogenic	Splice donor variant
rs1458096844	C>A,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1460365350	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1475648900	G>A	Pathogenic	Coding sequence variant, stop gained
rs1490309743	CA>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553448527	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553457607	T>A	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553468939	A>T	Likely-pathogenic	Splice donor variant
rs1553468960	C>-	Likely-pathogenic	Splice donor variant
rs1553469502	C>A	Likely-pathogenic	Splice acceptor variant
rs1553469514	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1553472127	C>T	Likely-pathogenic	Splice donor variant
rs1553484601	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553487838	AGCACTTACA>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553495140	C>T	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs1553501889	A>G	Likely-pathogenic	Splice donor variant
rs1553502168	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553512813	T>G	Likely-pathogenic	Splice acceptor variant
rs1553517128	C>T	Likely-pathogenic	Splice acceptor variant
rs1553517142	CT>TATA	Likely-pathogenic	Splice acceptor variant
rs1553531049	A>G	Likely-pathogenic	Splice donor variant
rs1553538835	C>-	Likely-pathogenic	Splice donor variant
rs1553539777	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1553542669	C>T	Likely-pathogenic	Splice acceptor variant
rs1553548666	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553557405	A>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553558398	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553564693	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553565278	C>G	Likely-pathogenic	Splice acceptor variant
rs1553568167	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553579092	A>T	Likely-pathogenic	Splice donor variant
rs1553580540	T>C	Likely-pathogenic	Splice acceptor variant
rs1553586486	C>T	Likely-pathogenic	Splice donor variant
rs1553593177	C>T	Likely-pathogenic	Splice acceptor variant
rs1553601066	TA>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553603437	A>G	Pathogenic-likely-pathogenic	Splice donor variant
rs1553603933	TTTAACT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553603958	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1553605553	C>T	Likely-pathogenic	Splice donor variant
rs1553605995	C>T	Pathogenic	Splice acceptor variant
rs1553607505	T>C	Likely-pathogenic	Splice acceptor variant
rs1553608621	T>C	Likely-pathogenic	Splice acceptor variant
rs1553609515	T>C	Likely-pathogenic	Splice acceptor variant
rs1553642811	T>C	Likely-pathogenic	Splice acceptor variant
rs1553682994	C>T	Likely-pathogenic	Splice donor variant
rs1553686994	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553688242	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553689057	C>T	Likely-pathogenic	Splice donor variant
rs1553689774	CCTGCCCAA>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1553694860	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553695209	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553695557	C>T	Likely-pathogenic	Splice acceptor variant
rs1553710982	GCCAAATCCCTTCAGGACCTGCA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553711195	C>A	Likely-pathogenic	Splice donor variant
rs1553715579	C>G	Likely-pathogenic	Splice acceptor variant
rs1553717306	A>G	Likely-pathogenic	Splice donor variant
rs1553740233	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553755829	C>T	Likely-pathogenic	Splice acceptor variant
rs1553757097	CTGTTGTGTATTTGTCCTTAATCTGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553762626	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553763404	T>-	Likely-pathogenic	Splice acceptor variant
rs1553769576	C>G	Likely-pathogenic	Splice donor variant
rs1553770146	TACCT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553770178	CC>TT	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553862061	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553862114	G>A,T	Pathogenic, likely-benign	Stop gained, intron variant, coding sequence variant, synonymous variant
rs1553862274	A>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553875421	A>C	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553877885	CT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553883480	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553886582	TTACTT>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553887191	C>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553891733	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553896522	AT>G	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553901249	C>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553901624	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553904694	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553915731	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553930053	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553933986	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553934562	->TA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553934586	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553934597	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553938571	T>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553939284	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553939600	G>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553939648	C>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553939660	->A	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553939774	C>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553939806	G>C	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553947423	C>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553948395	T>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553962493	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553963960	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553963973	T>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553964158	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553983416	AC>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, inframe indel
rs1553990438	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1559039815	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559168230	TACGTCA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1559573882	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1560031341	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1560283028	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1560499498	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1574014358	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1574526903	CT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1574820458	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575122070	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1575295628	->TG	Pathogenic	Frameshift variant, coding sequence variant
rs1575300582	T>C	Pathogenic	Splice acceptor variant
rs1575358650	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575668113	T>C	Likely-pathogenic	Splice acceptor variant
rs1576517390	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1576600442	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576695735	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576704575	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576819152	C>T	Likely-pathogenic	Splice donor variant
rs1577244250	AGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1577253760	G>A	Pathogenic	Stop gained, coding sequence variant
rs1577548638	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1577576425	TAGACAA>-	Likely-pathogenic	Intron variant
rs1577636079	A>G	Likely-pathogenic	Splice donor variant
rs1577833924	C>T	Likely-pathogenic	Splice donor variant
rs1577886635	G>A	Pathogenic	Stop gained, coding sequence variant
rs1577890764	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578009926	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578011278	GCGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578868550	C>T	Likely-pathogenic	Splice donor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1179288	hsa-miR-2392	CLIP-seq
MIRT1179289	hsa-miR-4428	CLIP-seq
MIRT1179290	hsa-miR-548aa	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	12482578, 16902413, 18639526, 23414517, 23615443, 23985323, 30986853
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007517	Process	Muscle organ development	TAS	7739042
GO:0007525	Process	Somatic muscle development	NAS	7739042
GO:0008307	Function	Structural constituent of muscle	TAS	7739042
GO:0015629	Component	Actin cytoskeleton	TAS	7739042
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	9501083
GO:0030018	Component	Z disc	IEA
GO:0030832	Process	Regulation of actin filament length	NAS	7739042
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071691	Process	Cardiac muscle thin filament assembly	IBA

Other IDs

• MIM: 161650
• HGNC: 7720
• e!Ensembl: ENSG00000183091

Protein

• UniProt ID: P20929
• Protein name: Nebulin
• Protein function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.
• PDB: 1ARK, 1NEB, 6Y17
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00880	Nebulin	154 → 180	Nebulin repeat	Repeat
  PF00880	Nebulin	188 → 215	Nebulin repeat	Repeat
  PF00880	Nebulin	258 → 284	Nebulin repeat	Repeat
  PF00880	Nebulin	368 → 395	Nebulin repeat	Repeat
  PF00880	Nebulin	507 → 534	Nebulin repeat	Repeat
  PF00880	Nebulin	542 → 569	Nebulin repeat	Repeat
  PF00880	Nebulin	578 → 605	Nebulin repeat	Repeat
  PF00880	Nebulin	616 → 643	Nebulin repeat	Repeat
  PF00880	Nebulin	789 → 816	Nebulin repeat	Repeat
  PF00880	Nebulin	825 → 852	Nebulin repeat	Repeat
  PF00880	Nebulin	863 → 890	Nebulin repeat	Repeat
  PF00880	Nebulin	929 → 957	Nebulin repeat	Repeat
  PF00880	Nebulin	1069 → 1096	Nebulin repeat	Repeat
  PF00880	Nebulin	1107 → 1134	Nebulin repeat	Repeat
  PF00880	Nebulin	1242 → 1269	Nebulin repeat	Repeat
  PF00880	Nebulin	1313 → 1340	Nebulin repeat	Repeat
  PF00880	Nebulin	1351 → 1378	Nebulin repeat	Repeat
  PF00880	Nebulin	1520 → 1550	Nebulin repeat	Repeat
  PF00880	Nebulin	1595 → 1622	Nebulin repeat	Repeat
  PF00880	Nebulin	1765 → 1793	Nebulin repeat	Repeat
  PF00880	Nebulin	1801 → 1828	Nebulin repeat	Repeat
  PF00880	Nebulin	1839 → 1866	Nebulin repeat	Repeat
  PF00880	Nebulin	1974 → 2001	Nebulin repeat	Repeat
  PF00880	Nebulin	2009 → 2037	Nebulin repeat	Repeat
  PF00880	Nebulin	2083 → 2110	Nebulin repeat	Repeat
  PF00880	Nebulin	2253 → 2281	Nebulin repeat	Repeat
  PF00880	Nebulin	2327 → 2354	Nebulin repeat	Repeat
  PF00880	Nebulin	2461 → 2488	Nebulin repeat	Repeat
  PF00880	Nebulin	2496 → 2523	Nebulin repeat	Repeat
  PF00880	Nebulin	2570 → 2597	Nebulin repeat	Repeat
  PF00880	Nebulin	2739 → 2766	Nebulin repeat	Repeat
  PF00880	Nebulin	2813 → 2840	Nebulin repeat	Repeat
  PF00880	Nebulin	2982 → 3009	Nebulin repeat	Repeat
  PF00880	Nebulin	3056 → 3083	Nebulin repeat	Repeat
  PF00880	Nebulin	3225 → 3252	Nebulin repeat	Repeat
  PF00880	Nebulin	3261 → 3287	Nebulin repeat	Repeat
  PF00880	Nebulin	3365 → 3392	Nebulin repeat	Repeat
  PF00880	Nebulin	3433 → 3460	Nebulin repeat	Repeat
  PF00880	Nebulin	3468 → 3495	Nebulin repeat	Repeat
  PF00880	Nebulin	3504 → 3530	Nebulin repeat	Repeat
  PF00880	Nebulin	3542 → 3569	Nebulin repeat	Repeat
  PF00880	Nebulin	3676 → 3703	Nebulin repeat	Repeat
  PF00880	Nebulin	3711 → 3738	Nebulin repeat	Repeat
  PF00880	Nebulin	3747 → 3774	Nebulin repeat	Repeat
  PF00880	Nebulin	3849 → 3878	Nebulin repeat	Repeat
  PF00880	Nebulin	3919 → 3946	Nebulin repeat	Repeat
  PF00880	Nebulin	3954 → 3981	Nebulin repeat	Repeat
  PF00880	Nebulin	3989 → 4016	Nebulin repeat	Repeat
  PF00880	Nebulin	4091 → 4120	Nebulin repeat	Repeat
  PF00880	Nebulin	4405 → 4432	Nebulin repeat	Repeat
  PF00880	Nebulin	4615 → 4641	Nebulin repeat	Repeat
  PF00880	Nebulin	4860 → 4887	Nebulin repeat	Repeat
  PF00880	Nebulin	5247 → 5274	Nebulin repeat	Repeat
  PF00880	Nebulin	5317 → 5344	Nebulin repeat	Repeat
  PF00880	Nebulin	5387 → 5414	Nebulin repeat	Repeat
  PF00880	Nebulin	5422 → 5449	Nebulin repeat	Repeat
  PF00880	Nebulin	5457 → 5484	Nebulin repeat	Repeat
  PF00880	Nebulin	5633 → 5659	Nebulin repeat	Repeat
  PF00880	Nebulin	5668 → 5697	Nebulin repeat	Repeat
  PF00880	Nebulin	5777 → 5803	Nebulin repeat	Repeat
  PF00880	Nebulin	5845 → 5875	Nebulin repeat	Repeat
  PF00880	Nebulin	5883 → 5912	Nebulin repeat	Repeat
  PF00880	Nebulin	5918 → 5946	Nebulin repeat	Repeat
  PF00880	Nebulin	5956 → 5983	Nebulin repeat	Repeat
  PF00880	Nebulin	5992 → 6020	Nebulin repeat	Repeat
  PF00880	Nebulin	6030 → 6057	Nebulin repeat	Repeat
  PF00880	Nebulin	6065 → 6092	Nebulin repeat	Repeat
  PF00880	Nebulin	6135 → 6158	Nebulin repeat	Repeat
  PF00880	Nebulin	6167 → 6188	Nebulin repeat	Repeat
  PF00880	Nebulin	6229 → 6251	Nebulin repeat	Repeat
  PF00880	Nebulin	6260 → 6282	Nebulin repeat	Repeat
  PF00880	Nebulin	6291 → 6313	Nebulin repeat	Repeat
  PF00880	Nebulin	6322 → 6344	Nebulin repeat	Repeat
  PF00880	Nebulin	6352 → 6378	Nebulin repeat	Repeat
  PF00880	Nebulin	6384 → 6409	Nebulin repeat	Repeat
  PF00880	Nebulin	6419 → 6446	Nebulin repeat	Repeat
  PF14604	SH3_9	6617 → 6667	Variant SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle (at protein level) (PubMed:23985323). Located in the thin filament of striated muscle (PubMed:9514727). {ECO:0000269|PubMed:23985323, ECO:0000269|PubMed:9514727}.
• Sequence:

  MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQP
  ASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNKYKEKFEKTKGQPYASTTDTP
  ELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTK
  DKYLLPPDAPELVQAVKNTAMFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDV
  AYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANA
  RMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKAD
  YNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSINYCETPKFKLDTVLQNFSSDK
  KYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYE
  AIKKLDQCKDHTYKVHPDKTKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIP
  PDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKD
  YEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQ
  LKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQNSDKSYKAEYEEDKGKCYFPQ
  TITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGE
  KFKCHIPADAPQFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTS
  DVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDML
  QVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCG
  WVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAK
  GEEIIHKYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAAR
  QAASDVQYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTP
  HDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWM
  KGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDIL
  YKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDWYDLIAKGNNVLGDAIPITAA
  KASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTS
  YHTPGDMVSITAAKMAQDVATNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEY
  NSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMVLAQHNTKQL
  SDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIP
  IVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEA
  SKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLY
  KSDFTNWMKGIGWVPIESLEVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSN
  KLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRP
  DAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKK
  GYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTYNMLPDAMSFELAKNMMQIQS
  DNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVL
  AQNNAKIMNEHLYKQAWEADKTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGY
  DLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR
  EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMN
  RIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSM
  DMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEAL
  KKGYDLPVDAISVQLAKASRDIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKM
  QSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQA
  KKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIP
  DAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIVLAKANLINTSDKLYRMGYE
  ELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHV
  AKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDV
  IHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFS
  SLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKL
  GLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRKQLGHHIGARAIRDDPKMMWS
  MHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQ
  SDVIHARQAYDLQSDNMYKSDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRF
  KFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETL
  YKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKM
  MWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCL
  PDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPP
  DKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYS
  ESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDD
  PKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEW
  ICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYR
  QRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRI
  NYSDKLYKLALEESKKEGYDLRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNI
  KDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPL
  HEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDR
  KYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWDADKTSIHVMPDTPDILLAKS
  NSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGA
  QSIEDDPKIMCAIHAGKIQSEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYR
  NYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIF
  CDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINL
  ARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYV
  GTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMD
  YRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAAD
  IFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH
  TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGH
  YVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSD
  IDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKN
  QEMMSQIKYKKNALENYPNFRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPD
  TPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYE
  KQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQ
  YILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQIL
  HAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKY
  TTVLETVDYDRTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKY
  REEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVT
  AKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWD
  TPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYVH
  SVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMS
  SYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPE
  IRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKG
  FGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELV
  YRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAK
  DVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTV
  KDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDL
  TWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQL
  MNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPE
  HLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNK
  SNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDF
  EYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLA
  KTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKS
  NYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEY
  RAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVM
  KDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHT
  IPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKD
  YEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAK
  NATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANF
  TSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQ
  CDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHI
  SSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQE
  NFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLAVTPEMERVKHN
  QENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVK
  RNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDT
  PEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKV
  VEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRS
  ASALSISGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTT
  VSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGM
  LPANYVEAI

• Sequence length: 6669

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs758277406	RCV001814281	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the neck	Pathogenic	rs555445835	RCV001270074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita 6	Pathogenic; Likely pathogenic	rs398124167, rs398124172, rs2098659971, rs1203257517, rs763163879, rs1233792020, rs2154185810, rs1208297049, rs1162553327, rs767693366, rs2061721973, rs1553568447, rs2064439011, rs753192734, rs771740564, rs2153702280, rs747282057, rs2153930733, rs1278785558, rs2153939368, rs1560500587, rs1351747266, rs2154176971, rs748453057, rs2149103521, rs2149163148, rs1321522421, rs2153972327, rs374874999, rs2153702473, rs377182240, rs762881892, rs758327681, rs1202331107, rs2150350376, rs1446930968, rs2154134234, rs1559680233, rs2055484249, rs587780399, rs1335300113, rs1390328608, rs2154175437, rs1220787593, rs1559217202, rs759956258, rs1433028646, rs756612643, rs2154172729, rs1559093497, rs2153991555, rs1181351466, rs1212081578, rs2153930361, rs778104284, rs748550315, rs777232352, rs111833078, rs2154172204, rs2154179061, rs2153700128, rs949331605, rs2152991690, rs2154175371, rs2153020985, rs373946758, rs1428300892, rs2152876577, rs2153447342, rs2153657682, rs2150020225, rs1346554177, rs2153276539, rs2099084606, rs2099555780, rs786204576, rs786204430, rs769345284, rs2552179259, rs2552267817, rs112610938, rs113925788, rs765866533, rs2552182258, rs1248414885, rs1474933873, rs2097887468, rs1559786400, rs2551843345, rs1220521725, rs1558826853, rs2552265386, rs2552247008, rs2552232114, rs2552194237, rs878854368, rs201553266, rs2552248320, rs143644938, rs555445835, rs762278237, rs758105619, rs886041851, rs794727136, rs755239192, rs1560619891, rs773952935, rs2552123951, rs2552252715, rs2552279432, rs2552108038, rs2552010360, rs2552231470, rs2551936300, rs2551872407, rs2551907730, rs1553508368, rs2552232124, rs2552274638, rs2552273413, rs2552206424, rs1575514028, rs2552275070, rs2552266632, rs758991263, rs2552238380, rs2552160214, rs2552139054, rs2552117623, rs2552252911, rs2058584112, rs2552089283, rs2552208262, rs2552222991, rs1379418184, rs2552117906, rs2552227879, rs2552149520, rs2552174365, rs2552227348, rs2551643451, rs2552178731, rs1318105962, rs2552216787, rs2552278463, rs2551935766, rs2552227195, rs2552270253, rs2552254269, rs2552194255, rs1445629270, rs1553901249, rs772959616, rs2552269935, rs2552252586, rs2552192520, rs2552085303, rs767079113, rs2551871685, rs2551672017, rs2154172885, rs2552255512, rs200298261, rs2552199770, rs2552242957, rs2552268543, rs752582527, rs2552136577, rs2551991583, rs2552227341, rs751346602, rs2552036488, rs2552247699, rs2098891653, rs2551732443, rs2552260128, rs1553915731, rs2552257490, rs2552254255, rs2552116988, rs2552249907, rs2552244082, rs2099075974, rs2551667327, rs2552244140, rs2552261406, rs2552224168, rs1326281375, rs2551853566, rs2552238370, rs2552260138, rs2552195829, rs2551667649, rs2552252628, rs2551671374, rs2552237546, rs2552267736, rs1057524648, rs2552269638, rs2552090974, rs768045509, rs2552079120, rs2552139153, rs2551842527, rs2552274637, rs2552085296, rs2552190469, rs768102065, rs2552230107, rs766321668, rs2552243502, rs2552091132, rs2552258223, rs2552171912, rs2552273429, rs2551872366, rs1200480325, rs2552195317, rs2552256921, rs2552251162, rs2552222439, rs2552091156, rs2552085287, rs2096546315, rs2552273407, rs2552257043, rs2552190556, rs2552279789, rs2552206445, rs2552256135, rs2552113594, rs2552081312, rs2552191258, rs2551854193, rs2552222912, rs1406807952, rs2551841653, rs2552160126, rs2098334864, rs2552113419, rs2552178788, rs2552216762, rs1453402449, rs750502323, rs1266187397, rs2552216821, rs1559092256, rs2552266254, rs2552260137, rs2552270108, rs2552247709, rs1459939417, rs2552262635, rs2099795651, rs749655119, rs1331062755, rs2552263542, rs2552263977, rs2552280290, rs2552252205, rs2552246543, rs192117840, rs2552270119, rs2552267730, rs2099203002, rs2551710477, rs2552243981, rs2096589470, rs1057515573, rs2551726621, rs756117435, rs2551889054, rs2552247258, rs748990736, rs2552036032, rs1553501889, rs2552233697, rs2552179267, rs2552256226, rs2098336133, rs2097567446, rs2552267739, rs2552117947, rs2552157271, rs2551871389, rs2552151159, rs2099118735, rs2552208321, rs2552279972, rs1466946196, rs2552273381, rs2552150723, rs2552269107, rs2552188970, rs2552113129, rs2552073411, rs2552262648, rs2098334069, rs2552243528, rs2551647323, rs111863059, rs2552280861, rs2552280298, rs201719702, rs2552252981, rs2551708075, rs2552269932, rs1416012783, rs2551726011, rs1474860245, rs1281532146, rs2096326746, rs2099604443, rs2552217007, rs1464359123, rs2552257504, rs2552113620, rs2096805941, rs1281603759, rs2552267822, rs2098907339, rs2552091164, rs774109260, rs1301275168, rs2551888705, rs1216517249, rs765737421, rs2552206364, rs767011524, rs2552278470, rs2552194244, rs2552236266, rs2552236697, rs2552270221, rs2552216776, rs2552227856, rs2552280868, rs2552194256, rs2552246664, rs1057516676, rs1057516996, rs1057516758, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs545937015, rs375145370, rs1064796311, rs148950085, rs754272530, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs1553484601, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1553548207, rs1257495033, rs1553568357, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1266535163, rs1011425121, rs193042896, rs1553561697, rs1553551748, rs1553552413, rs1553561211, rs1553615846, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553963960, rs1553603437, rs1475648900, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553565278, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs541803470, rs778593702, rs1553601066, rs1477702016, rs1553689774, rs1560031341, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs777819332, rs1559168230, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1575714905, rs1576203853, rs779909544, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs1177405905, rs2099350888, rs2097758221, rs747946275, rs1474341248, rs925947627, rs555582398, rs2092318339, rs1301228529, rs2099386045, rs758277406, rs2096502530, rs1333519240, rs2064466448, rs997878946, rs2099060040, rs1032240985, rs2095359371	RCV001449897 RCV003466993 RCV005014731 RCV003473906 RCV003469637 RCV005023118 RCV002499776 RCV003462962 RCV003469639 RCV003473910 RCV003469722 RCV004570937 RCV003473968 RCV003469709 RCV005014545 RCV003469696 RCV003469767 RCV003473934 RCV003473946 RCV003469724 RCV003469769 RCV004570966 RCV003462989 RCV003473993 RCV003463030 RCV003469683 RCV003469716 RCV001449898 RCV001449899 RCV001449901 RCV003470847 RCV003474012 RCV003470907 RCV005014659 RCV003475085 RCV003470913 RCV002489890 RCV005014683 RCV003471062 RCV004567031 RCV003475144 RCV004571934 RCV004571728 RCV005025555 RCV003471054 RCV005025482 RCV003471192 RCV003475139 RCV003471032 RCV005016937 RCV005025508 RCV003471126 RCV004571962 RCV004571464 RCV003475221 RCV003470961 RCV003475120 RCV005016970 RCV005023280 RCV003475154 RCV003471025 RCV003464204 RCV003471226 RCV002484806 RCV002507704 RCV003464255 RCV005925361 RCV003475280 RCV003464325 RCV003471235 RCV003471084 RCV003475171 RCV005025725 RCV003475312 RCV004572232 RCV005019177 RCV003474905 RCV002498839 RCV002478527 RCV003465999 RCV003465777 RCV003475393 RCV003465787 RCV003465796 RCV005019291 RCV003465799 RCV003465810 RCV004571212 RCV003475428 RCV005019407 RCV003475440 RCV003465852 RCV003464619 RCV005027998 RCV005028113 RCV005019573 RCV003475478 RCV003475837 RCV001836641 RCV004763598 RCV003228233 RCV003469199 RCV005016658 RCV003463738 RCV004527372 RCV003469212 RCV002503971 RCV003475548 RCV003469243 RCV003777338 RCV003471402 RCV003471403 RCV003476525 RCV003471404 RCV003471405 RCV003471406 RCV003471407 RCV003476526 RCV003476527 RCV003471408 RCV003471409 RCV003476528 RCV003471410 RCV003476529 RCV003471411 RCV003476530 RCV003471412 RCV003471413 RCV003476531 RCV003471414 RCV003471415 RCV003471416 RCV003476532 RCV003471417 RCV003471418 RCV003476533 RCV003471419 RCV003476534 RCV003476535 RCV003476536 RCV003471420 RCV003476537 RCV003471421 RCV003471422 RCV003476538 RCV003471423 RCV003471424 RCV003476539 RCV003471425 RCV003471426 RCV003476540 RCV003471427 RCV003471428 RCV003471429 RCV003471430 RCV003476541 RCV003476542 RCV003476543 RCV003471431 RCV003471432 RCV003471433 RCV003476544 RCV003471434 RCV003471435 RCV003476545 RCV003476546 RCV003471436 RCV003476547 RCV003476548 RCV003471437 RCV003471438 RCV003476549 RCV003476550 RCV003471439 RCV003476551 RCV003476552 RCV003471441 RCV003471442 RCV003476553 RCV003476554 RCV003471443 RCV003476555 RCV003476556 RCV003476557 RCV003476558 RCV003471445 RCV005030043 RCV003471446 RCV003476560 RCV003476561 RCV003476562 RCV003471447 RCV003476563 RCV003471448 RCV003476564 RCV003471449 RCV003471450 RCV003471451 RCV003471452 RCV003476565 RCV003476566 RCV003471453 RCV003471454 RCV003476568 RCV003476569 RCV003471455 RCV003476570 RCV003476571 RCV003471456 RCV003476572 RCV003471457 RCV003471458 RCV003471459 RCV003476573 RCV003471460 RCV003471461 RCV003471462 RCV003471463 RCV003471464 RCV003471465 RCV003476574 RCV003476575 RCV003471466 RCV003471467 RCV003471468 RCV003471469 RCV003471470 RCV003463111 RCV003471471 RCV003471472 RCV003471473 RCV003471474 RCV003471475 RCV003471476 RCV003463112 RCV003471477 RCV003471478 RCV003463113 RCV003471479 RCV003471480 RCV003463114 RCV003471481 RCV003463115 RCV003471482 RCV003471483 RCV003463116 RCV003471484 RCV003471485 RCV003463117 RCV003463118 RCV003463119 RCV003463120 RCV003463121 RCV003463122 RCV003463123 RCV003463124 RCV003463125 RCV003463126 RCV003463127 RCV003463128 RCV003463129 RCV003463130 RCV003471486 RCV003463131 RCV003463132 RCV003463133 RCV003463134 RCV003463135 RCV003463136 RCV003470318 RCV004574059 RCV004574116 RCV004574117 RCV005016266 RCV000015093 RCV005014797 RCV005014828 RCV004573149 RCV005030213 RCV004573266 RCV005014993 RCV005015020 RCV004576321 RCV004576322 RCV004576323 RCV004576324 RCV004576325 RCV004576326 RCV004576327 RCV004576328 RCV004576329 RCV004576330 RCV004576331 RCV004576332 RCV004576333 RCV004576334 RCV004576335 RCV004576336 RCV004576337 RCV004576338 RCV004576339 RCV004576340 RCV004576341 RCV004576342 RCV004576343 RCV004576344 RCV004576345 RCV004576346 RCV004576347 RCV004576348 RCV004576349 RCV004576350 RCV004576351 RCV004576352 RCV004576353 RCV004576354 RCV004576355 RCV004576356 RCV004576357 RCV004576358 RCV004576359 RCV004576360 RCV004576361 RCV004576362 RCV004576363 RCV004576364 RCV004576365 RCV004576366 RCV004576368 RCV004576369 RCV004576370 RCV004576371 RCV004576372 RCV004576373 RCV004574324 RCV004574325 RCV004574326 RCV004574327 RCV004574328 RCV004574330 RCV004574331 RCV004574332 RCV004574333 RCV004577090 RCV003470330 RCV003463800 RCV005027462 RCV003470347 RCV005027467 RCV002488842 RCV004567900 RCV003470361 RCV003476005 RCV002480289 RCV003470584 RCV003470617 RCV003470620 RCV003476221 RCV004568671 RCV003476223 RCV003476222 RCV003470651 RCV005018935 RCV003470750 RCV003470749 RCV001449887 RCV003157724 RCV002476276 RCV003465324 RCV003471957 RCV003465348 RCV000611131 RCV002506517 RCV003465359 RCV004568337 RCV003465402 RCV003465403 RCV002507091 RCV003472031 RCV003465453 RCV003459645 RCV003465459 RCV003465532 RCV002507159 RCV003465475 RCV003465527 RCV003472105 RCV004568503 RCV004568519 RCV003472163 RCV004568493 RCV003472087 RCV003465483 RCV005027824 RCV004568506 RCV003472128 RCV004568487 RCV003465508 RCV003472140 RCV005027779 RCV003472177 RCV003472157 RCV005019114 RCV005019130 RCV003465536 RCV003472102 RCV002507170 RCV005019106 RCV005027799 RCV003472148 RCV002280821 RCV003472112 RCV003472067 RCV004568564 RCV003472071 RCV003459583 RCV001449900 RCV003472174 RCV003465472 RCV004568508 RCV004568502 RCV003459606 RCV005019144 RCV003472066 RCV002499187 RCV003472164 RCV005019112 RCV004568555 RCV003472100 RCV003472110 RCV004568509 RCV005019123 RCV003465499 RCV003465461 RCV005019149 RCV004568566 RCV003465487 RCV004568507 RCV003472181 RCV003465469 RCV003472132 RCV004568510 RCV005027784 RCV005019150 RCV003459598 RCV003465467 RCV003465477 RCV003465496 RCV003465474 RCV002499274 RCV003338738 RCV003465629 RCV003465639 RCV002499258 RCV004569340 RCV003465650 RCV003465660 RCV003465682 RCV003465706 RCV004569492 RCV003467314 RCV003467310 RCV005029435 RCV003467311 RCV003472393 RCV003472421 RCV003472345 RCV003467382 RCV004569503 RCV003467388 RCV003467335 RCV003467420 RCV003467544 RCV004569829 RCV005021290 RCV003467576 RCV003467578 RCV002497328 RCV003467698 RCV004570217 RCV003473659 RCV003467742 RCV005029617 RCV005021371 RCV003462542 RCV002481909 RCV003469285 RCV003469286 RCV004570330 RCV005029783 RCV005021528 RCV003462736 RCV005029770 RCV006249717 RCV003469320 RCV003473784 RCV003473803 RCV003469421 RCV003469430 RCV003473820 RCV003469483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myopathy	Likely pathogenic; Pathogenic	rs2097887468, rs1057524581	RCV005626683 RCV005621951	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysphagia	Pathogenic	rs555445835	RCV001270074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Low-set ears	Pathogenic	rs555445835	RCV001270074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEB-related disorder	Pathogenic; Likely pathogenic	rs1176407542, rs2153647734, rs878854368, rs201553266, rs886041851, rs2552147220, rs2098615734, rs2552228093, rs2551811961, rs148950085, rs747179265, rs1472403020, rs934111355, rs539819851, rs747564597, rs756363951, rs776167256, rs778593702, rs780343350, rs1212374733, rs1490309743, rs2064466448, rs2099386637	RCV004738279 RCV004738400 RCV004547618 RCV004547569 RCV004737397 RCV004550649 RCV004552411 RCV004552703 RCV004554347 RCV004737563 RCV004553149 RCV004698844 RCV004737920 RCV003233799 RCV004737942 RCV004547839 RCV004698847 RCV004547838 RCV004547876 RCV004553551 RCV004553552 RCV004738201 RCV004548102	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline myopathy	Pathogenic; Likely pathogenic	rs398124167, rs398124172, rs2098659971, rs1203257517, rs763163879, rs2099590816, rs2061721973, rs1553568447, rs2064439011, rs771740564, rs2153553617, rs2153702280, rs1560500587, rs766355387, rs1351747266, rs1558883594, rs1237432906, rs748453057, rs867732907, rs1321522421, rs2153702473, rs2149360884, rs887471790, rs1396689726, rs1559680233, rs1161478770, rs2153501801, rs2098013896, rs2153554020, rs2152763931, rs1171781332, rs2153272667, rs778104284, rs777232352, rs2154172676, rs2153102752, rs949331605, rs2154175371, rs2153020985, rs1428300892, rs2153521056, rs2152822941, rs2552247380, rs2552280353, rs2552157247, rs1355594941, rs2099784151, rs2552235366, rs786204576, rs786204430, rs2552270221, rs769345284, rs754065526, rs1441817658, rs2552267817, rs2552195778, rs2552182258, rs2552190528, rs1474933873, rs1229469680, rs2097887468, rs2552246656, rs797045098, rs1559786400, rs751346602, rs2552195896, rs2551970111, rs1281421540, rs1220521725, rs1558826853, rs2069534941, rs1321469218, rs2552242936, rs2099386610, rs1286822636, rs1559808509, rs201553266, rs2096823537, rs1313089322, rs143644938, rs555445835, rs762278237, rs758105619, rs80344795, rs781090555, rs886043631, rs773952935, rs2099542243, rs2552215485, rs767079113, rs2552268543, rs2552222912, rs2551841653, rs1459939417, rs2099203002, rs2552232032, rs2552010325, rs2069560803, rs1057515573, rs1057515574, rs121913662, rs1290121054, rs1389657207, rs2095135808, rs2552207548, rs2552225601, rs2552219777, rs2552255606, rs2552246923, rs2552280001, rs2551810882, rs2552257876, rs2551853918, rs2552108882, rs2552131294, rs201719702, rs2099604443, rs1057516996, rs780022652, rs1057518200, rs1057517977, rs545937015, rs375145370, rs1057524581, rs148950085, rs200731870, rs1330332139, rs776569219, rs781185019, rs375628303, rs1553934562, rs1553484601, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs191579691, rs1472403020, rs761232641, rs1336053002, rs202048855, rs755531536, rs1553555882, rs1371849916, rs934111355, rs934955715, rs1255744452, rs1421095081, rs1257495033, rs1553568357, rs779173742, rs113525641, rs755863625, rs1337287633, rs374929094, rs776059611, rs747564597, rs756726488, rs1553939600, rs1266535163, rs193042896, rs1553552413, rs761694639, rs760935667, rs765403861, rs1185654671, rs1553589058, rs1373493309, rs1475648900, rs749452641, rs1553930053, rs754369875, rs774495973, rs746999970, rs113091511, rs756363951, rs1553469502, rs776167256, rs541803470, rs778593702, rs1477702016, rs1559296376, rs201636991, rs748922882, rs780343350, rs772366030, rs760200697, rs1344099907, rs750900690, rs777819332, rs1559573882, rs1559168230, rs370098540, rs1577890764, rs555516831, rs1319778592, rs1575122070, rs756352186, rs1575714905, rs753417634, rs767709270, rs1374971806, rs1177405905, rs1553711195, rs747946275, rs748358450, rs555582398, rs2093339890, rs1559952676, rs1301228529, rs2096502530, rs1463906422, rs780299519, rs2099738446, rs997878946, rs2099060040	RCV001174709 RCV002228328 RCV005253913 RCV002307737 RCV005253825 RCV005253821 RCV003490238 RCV005253827 RCV005253834 RCV005253840 RCV005253838 RCV002282537 RCV005253842 RCV005253831 RCV005253836 RCV005253835 RCV005253839 RCV005253841 RCV005237772 RCV005253832 RCV005253847 RCV005253871 RCV005253887 RCV005253889 RCV001825052 RCV001825073 RCV005254025 RCV005253948 RCV005253954 RCV005253940 RCV005253966 RCV005253963 RCV005253969 RCV005253907 RCV005253943 RCV005253978 RCV005253999 RCV004587274 RCV003331239 RCV005254008 RCV005253922 RCV002266331 RCV002308625 RCV005254058 RCV005254060 RCV005254061 RCV005254062 RCV002470021 RCV001553644 RCV000589380 RCV005254694 RCV000781653 RCV005254704 RCV005254709 RCV002510267 RCV005254109 RCV005254119 RCV005254120 RCV005254124 RCV005254126 RCV005254127 RCV005254129 RCV004017476 RCV005254136 RCV005254131 RCV005254133 RCV005254634 RCV005254635 RCV005254636 RCV005254639 RCV005254640 RCV005254647 RCV005254672 RCV005254677 RCV005254680 RCV005254684 RCV000780536 RCV005254738 RCV003226713 RCV005254754 RCV000588377 RCV005238809 RCV005252850 RCV003226272 RCV003230960 RCV004586665 RCV001192840 RCV003331741 RCV003331928 RCV005254794 RCV005419630 RCV005927718 RCV005254795 RCV005254796 RCV005419631 RCV003479856 RCV003490890 RCV005254825 RCV005237381 RCV005252681 RCV005252682 RCV005254884 RCV005254883 RCV004018246 RCV004018247 RCV004018248 RCV004018249 RCV004587630 RCV004587631 RCV004587632 RCV004587633 RCV004587634 RCV004587635 RCV004587636 RCV004587638 RCV005254909 RCV005254910 RCV001420895 RCV000781655 RCV005252876 RCV004586700 RCV005252884 RCV004782377 RCV002265777 RCV005407155 RCV001174690 RCV005252949 RCV003993996 RCV004586754 RCV001192838 RCV005252961 RCV001584278 RCV000588489 RCV004017670 RCV000590386 RCV000586673 RCV000588345 RCV000589010 RCV005252988 RCV004732973 RCV005252996 RCV004586841 RCV000780535 RCV001192994 RCV005253020 RCV000781650 RCV005253018 RCV005253019 RCV005253058 RCV000781654 RCV005253059 RCV003987659 RCV001584536 RCV001194217 RCV002271561 RCV004586872 RCV003488790 RCV001193559 RCV005253033 RCV002222585 RCV001584532 RCV005253034 RCV005253049 RCV005253057 RCV000781656 RCV005253047 RCV003235340 RCV005253055 RCV002469242 RCV003226364 RCV001194218 RCV005253042 RCV005253048 RCV005253043 RCV002265844 RCV001255511 RCV001797776 RCV004732994 RCV005253046 RCV001199936 RCV001553645 RCV005253050 RCV000781651 RCV005253053 RCV005253074 RCV005253083 RCV000781648 RCV005253087 RCV001192839 RCV000781652 RCV000781649 RCV000780533 RCV000780532 RCV000780539 RCV000780534 RCV005253145 RCV005253646 RCV005253647 RCV005253132 RCV004702421 RCV005253144 RCV001797801 RCV001526961 RCV005253668 RCV003117687 RCV005253684 RCV005253694 RCV005253698 RCV001824918 RCV001174596 RCV001175588 RCV001194219 RCV001192841 RCV005253747 RCV005253746 RCV005253737 RCV002282485 RCV005253739 RCV004587068 RCV005253756 RCV005909100 RCV001251277	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline myopathy 2	Pathogenic; Likely pathogenic	rs398124167, rs398124172, rs2152829108, rs2097550591, rs2099187757, rs2098659971, rs2058028669, rs2152992966, rs2153074006, rs2153195911, rs1203257517, rs2153903681, rs2552220885, rs2153940927, rs2097713999, rs763163879, rs113803601, rs2098817648, rs1233792020, rs2154185810, rs1575668113, rs1208297049, rs2099590816, rs2149365500, rs1162553327, rs767693366, rs2152821411, rs1265163979, rs2152876293, rs2152937269, rs2061157682, rs2061721973, rs2153021199, rs1553568447, rs2064439011, rs753192734, rs2153196376, rs771740564, rs767967099, rs2153453236, rs2153489310, rs2153515167, rs2153553617, rs2153574857, rs1559767662, rs2153615926, rs2153647595, rs2153702280, rs761964375, rs747282057, rs2153739049, rs1340834766, rs2153752710, rs1427371913, rs2153808894, rs2153902749, rs2153903111, rs2153923874, rs2153925061, rs2153930733, rs1278785558, rs2153939368, rs1176407542, rs2153953739, rs2153959601, rs2153960091, rs2153960473, rs2153960638, rs2153972237, rs1560500587, rs1207279110, rs766355387, rs2154073221, rs1351747266, rs2154105644, rs2154122471, rs2154135091, rs2154147691, rs1558883594, rs2154168541, rs2154176971, rs1237432906, rs2154199737, rs2154209597, rs748453057, rs2154210386, rs2149103521, rs2149163148, rs2149872738, rs2150729369, rs2150918170, rs867732907, rs1321522421, rs2150994126, rs377182240, rs2099402392, rs762881892, rs1559680233, rs2153806528, rs758327681, rs1202331107, rs2153703181, rs2150350376, rs1446930968, rs773605767, rs2153104173, rs2154134234, rs1161478770, rs2055484249, rs2153940785, rs924831918, rs2150663206, rs2153903290, rs2148951277, rs2153458564, rs2149150540, rs2149368742, rs2153924098, rs2153501801, rs2153903239, rs2153992255, rs587780397, rs587780399, rs2154149362, rs2153960539, rs2153647734, rs2154022757, rs1335300113, rs1390328608, rs2154172885, rs2153925181, rs2153386052, rs2153903589, rs2153073575, rs2099020340, rs2154122716, rs2153930968, rs1375183081, rs2153615795, rs2153276539, rs2153808479, rs2154176983, rs2153940243, rs2153712099, rs2153931339, rs766168868, rs2154175437, rs2098126010, rs2154072959, rs2153960793, rs2152874815, rs1576286971, rs2153739384, rs2153712182, rs1220787593, rs1559217202, rs2154172582, rs2098013896, rs2150762300, rs759956258, rs776635100, rs1553609515, rs751938843, rs2149367866, rs1433028646, rs2153711477, rs756612643, rs2154172729, rs1486623736, rs2154172818, rs2153554020, rs1266535163, rs2152763931, rs2058584112, rs2153115303, rs2153574675, rs2154154153, rs2153940505, rs2152954992, rs2148949901, rs2148844303, rs1171781332, rs2153924986, rs2153903564, rs1559093497, rs2152863770, rs2153991555, rs2152777457, rs2154174916, rs2150664716, rs2152861881, rs2148735901, rs2153930856, rs2153272667, rs2153749469, rs2154185730, rs1181351466, rs2153355216, rs2153617810, rs2154190331, rs1212081578, rs2153453450, rs2154027821, rs2148495720, rs112933443, rs2153437998, rs2153930361, rs2153755942, rs778104284, rs866949431, rs2154157623, rs748550315, rs777232352, rs2154149251, rs111833078, rs2153447885, rs2154172204, rs2154179061, rs2154172676, rs2099019846, rs2154112865, rs1559218052, rs2153700128, rs2153553633, rs2153102752, rs2154113080, rs2153218155, rs1390897355, rs2153475495, rs2154178700, rs2153320686, rs2153729960, rs949331605, rs2153172016, rs2097775442, rs2152991690, rs2154175371, rs2153923895, rs2153729614, rs2153957684, rs2153020985, rs373946758, rs113473971, rs1428300892, rs2149172715, rs2154134253, rs10172023, rs2154193668, rs2153659861, rs2152850167, rs2152876577, rs2154149413, rs1350840483, rs2154190685, rs2153447342, rs1449776440, rs2153657682, rs1039759571, rs2150020225, rs2153960110, rs2153515796, rs2153925252, rs1371849916, rs2153521056, rs1346554177, rs2153515061, rs2150050727, rs2153072192, rs2552116499, rs2552258927, rs2552257802, rs754642464, rs2099386045, rs2552261791, rs2552259332, rs886054937, rs2552246654, rs2552081224, rs2552232137, rs2552259339, rs2552183839, rs2552151112, rs2552253025, rs2552259326, rs2552260667, rs2552259351, rs2552262728, rs2552263446, rs2552264019, rs2552076647, rs2552231458, rs2552076561, rs2087109946, rs2552232854, rs2552249878, rs2552274641, rs2552243408, rs2551669530, rs2552258291, rs2552189361, rs2552230649, rs2552259318, rs2552190072, rs2552256160, rs2552139060, rs2552258179, rs2552257811, rs1231521376, rs2551732607, rs2552254230, rs2552252838, rs2552149538, rs2552257778, rs2552185992, rs2552189324, rs2552108726, rs2552108787, rs2552262736, rs2552237562, rs2552108781, rs2552269918, rs2552257498, rs2552249684, rs2552236315, rs752442261, rs2552266109, rs2552185400, rs2552254265, rs2552147228, rs2552258947, rs2552252923, rs2552178657, rs2552154867, rs2552190517, rs2552236290, rs2552180969, rs2552236273, rs2552269949, rs2552136650, rs2552190521, rs2552093059, rs2551726176, rs2552188966, rs2552266102, rs2552252921, rs2552252217, rs2552009393, rs2552189462, rs2552008486, rs2552264574, rs2552237971, rs2552230034, rs2552261781, rs2552236295, rs753638647, rs2552256960, rs2552266072, rs2552279142, rs2552085447, rs2552246652, rs2099480203, rs2552236318, rs2552247718, rs2552227872, rs2552249925, rs2552280353, rs2552270203, rs2552249937, rs2552247303, rs2552262747, rs2552243968, rs1379879241, rs769891018, rs2551707826, rs1220058715, rs2552261833, rs778504182, rs2552237548, rs2552254246, rs2552246954, rs201221209, rs2552154980, rs2552249944, rs2552091118, rs2552232772, rs2552093086, rs752328965, rs2552263448, rs2552260681, rs2552227822, rs2552267824, rs2552190536, rs866097920, rs2552263993, rs2099084606, rs2552010277, rs2552157247, rs2099555780, rs2551731512, rs2552079279, rs2551726479, rs1355594941, rs2552258304, rs2099784151, rs2552237995, rs2552273399, rs2552237996, rs2551671834, rs2552131173, rs2552259315, rs2552228082, rs2552267403, rs2552252639, rs2552247011, rs2551707232, rs2551697220, rs1560848309, rs2552262735, rs2552190539, rs767004691, rs2552252619, rs2552246658, rs2552252624, rs1487491068, rs2552243483, rs2552236285, rs2552258227, rs2552247675, rs2552266629, rs2552258231, rs2552258233, rs2552279147, rs2552108615, rs764103060, rs2552117507, rs2552243873, rs2552247235, rs2552076658, rs2552160134, rs2552236659, rs2552269111, rs2552260579, rs2552190584, rs2552248324, rs2552258949, rs2552252876, rs1466182533, rs2552257814, rs1343328054, rs2552230660, rs2552260702, rs2552076566, rs2552267430, rs2552116538, rs2552190497, rs2552237527, rs2552262690, rs1393913548, rs2552157176, rs2552258214, rs2551706794, rs2552182232, rs2552266594, rs2552267747, rs2551969453, rs786204576, rs786204430, rs2552270221, rs112450383, rs2552155028, rs2552223044, rs769345284, rs2153902894, rs754065526, rs1259218629, rs1441817658, rs794727136, rs2552179259, rs2552267817, rs2552189013, rs112610938, rs2552195778, rs113925788, rs765866533, rs2552182258, rs2552190528, rs1248414885, rs2552220976, rs2552267932, rs1474933873, rs2552235365, rs2552225568, rs2552147108, rs1229469680, rs2097887468, rs2552225596, rs2552246656, rs1575214374, rs2552220888, rs1327247430, rs1421095081, rs2552093096, rs2552089569, rs797045098, rs2552279728, rs2153931607, rs2552196136, rs1559786400, rs2099408391, rs2551843345, rs751346602, rs2552195896, rs2552236321, rs2552279443, rs2551970111, rs2552222622, rs2552189448, rs797045735, rs2552225557, rs1281421540, rs557870969, rs2552224161, rs2552185315, rs1369239753, rs2552073441, rs1220521725, rs2552008403, rs2552230097, rs1558826853, rs2551888897, rs2552139181, rs2552089492, rs202017360, rs2552275065, rs1553603437, rs2552149555, rs2552081244, rs2552010360, rs2551741002, rs2098827484, rs2551647849, rs2552262530, rs2069534941, rs2552265386, rs2552124435, rs754700207, rs2552264024, rs797044606, rs2552193781, rs2551809624, rs2552184215, rs2552265316, rs2552239867, rs2552238326, rs2552252600, rs2552192485, rs1379418184, rs2552232037, rs2552108670, rs2552247669, rs2552236602, rs2552262538, rs2552256921, rs2552280385, rs1321469218, rs770238157, rs200090059, rs2552183820, rs2552264560, rs2552239864, rs2551971087, rs746376570, rs2552091050, rs757784515, rs2551741314, rs2552279788, rs755009242, rs2552225153, rs2552085411, rs2552268640, rs2552247008, rs2552273392, rs2552225895, rs2552150546, rs1189557869, rs2552266252, rs2552174346, rs2096546757, rs2552269625, rs2551889376, rs2552275067, rs2552220869, rs2552232114, rs2552242936, rs2552183816, rs2552193713, rs2552279972, rs2551726251, rs2552132140, rs779173742, rs2552220873, rs2099386610, rs2552073521, rs2552279782, rs2552270096, rs2552236675, rs2552149566, rs2552184207, rs2552258964, rs2552220991, rs2552279741, rs2552194237, rs2552220876, rs2552113494, rs1286822636, rs2552182149, rs2552267397, rs1309221065, rs2552151169, rs2551707143, rs1559808509, rs2552150622, rs1362599473, rs111288905, rs878854368, rs201553266, rs2552156902, rs2552243523, rs2552227842, rs1395114113, rs2552228965, rs555445835, rs762278237, rs886041851, rs755239192, rs80344795, rs1560619891, rs781090555, rs2552260150, rs2552238010, rs2552009812, rs886043631, rs773952935, rs2552254240, rs1574665867, rs761666021, rs2551936300, rs758991263, rs2552089283, rs2552278463, rs2551935766, rs2552227195, rs772959616, rs767079113, rs2552268543, rs2552036488, rs2552247699, rs2552249907, rs2551667327, rs2551853566, rs2551842527, rs2552222439, rs2552091156, rs2552279789, rs2552113594, rs1406807952, rs1266187397, rs2552247709, rs2552262635, rs1331062755, rs2552267730, rs2099203002, rs2552192665, rs2552149562, rs763365852, rs2552257509, rs2552224222, rs2552189471, rs2552242956, rs2552180807, rs2552191223, rs2552220966, rs2552219739, rs2551872389, rs2552220880, rs2551710477, rs767902943, rs2551671576, rs2552251128, rs2552222811, rs2552269135, rs2552225936, rs2552252653, rs2552273388, rs1553605553, rs2552010058, rs2551935931, rs2552193822, rs2552191244, rs2552235371, rs2552174389, rs1263815921, rs2552220942, rs2552124031, rs2552262537, rs2551741253, rs2552079414, rs2552243981, rs1131691547, rs2552225112, rs2552263564, rs2069560803, rs2552268662, rs2552199752, rs2551853532, rs2552230087, rs2552279991, rs2096589470, rs1057515573, rs1057515574, rs2552225140, rs121913662, rs1057515575, rs2552117928, rs2551732406, rs771046654, rs2551853203, rs2551726369, rs1163709490, rs2552188977, rs2552269090, rs2552229054, rs756117435, rs2551731434, rs2552267936, rs766385695, rs2551906636, rs2551872755, rs2552227141, rs2552224192, rs2552079302, rs2551663650, rs774834421, rs2552258220, rs2552266638, rs924519892, rs2552254257, rs2099384937, rs2552174301, rs2552147210, rs2552280866, rs2552258164, rs2552107867, rs2552269620, rs2552248313, rs2552220945, rs1483606765, rs2552192687, rs2153276574, rs2084197089, rs2552219832, rs2552171943, rs2551889054, rs1578007148, rs2552268567, rs2153923925, rs2552252226, rs2552010255, rs1011425121, rs2552258297, rs2098660756, rs2552222699, rs2098330100, rs2552219836, rs1425369800, rs2551726656, rs2552124458, rs2552246978, rs2552219745, rs2552131463, rs2552232690, rs2552260630, rs2552252667, rs113916636, rs2551842932, rs2552239780, rs2552232745, rs2552269104, rs2552076605, rs754895962, rs1577892185, rs2552194827, rs2551841547, rs2552073612, rs2552035444, rs753854812, rs2552269917, rs2552274579, rs746567958, rs2552269893, rs2552262536, rs2552195784, rs2552228967, rs2551740587, rs2552262726, rs2552222723, rs2552224090, rs2552225592, rs1574741105, rs2552247258, rs2552259329, rs2552009479, rs2552225123, rs2552254223, rs2552224228, rs2552193689, rs2552278486, rs1035343199, rs2551948233, rs2552239840, rs2552117554, rs2552243530, rs2552073380, rs2552155031, rs2552263990, rs2552258957, rs2097569950, rs2552256930, rs2552196144, rs2552192235, rs2552258309, rs2552140159, rs2552219846, rs2552219759, rs748990736, rs2552266249, rs2552273400, rs2552143019, rs2552260663, rs1553862274, rs2552036032, rs2552243919, rs1442158854, rs1553501889, rs1553884554, rs2552220863, rs2552233697, rs1290121054, rs1389657207, rs112544116, rs1174344987, rs2552260062, rs2552199261, rs2099082085, rs2099156375, rs2552262719, rs760082702, rs2552222430, rs2552236697, rs1057516676, rs1057516348, rs1057516996, rs1057516758, rs1057517317, rs780022652, rs1057516381, rs1057517399, rs1057516938, rs1057516739, rs1057517360, rs1057517977, rs545937015, rs375145370, rs1057524581, rs148950085, rs754272530, rs1553526884, rs1553564693, rs1553605995, rs1386238241, rs200731870, rs747179265, rs1553740233, rs776569219, rs781185019, rs375628303, rs1553862061, rs1553934562, rs1553484601, rs775631800, rs781667543, rs1553556154, rs1553770146, rs1553875421, rs1553896522, rs1553469514, rs1553548666, rs928945364, rs763364977, rs1458048713, rs191579691, rs1472403020, rs761232641, rs202048855, rs1197561990, rs762133567, rs1553555882, rs934111355, rs934955715, rs113326313, rs1255744452, rs1553502168, rs866309952, rs1191429915, rs112687345, rs1553548207, rs752582527, rs1257495033, rs1553568357, rs1553603690, rs1553623367, rs1553627466, rs1488066635, rs1553519860, rs113525641, rs1553526619, rs1553642332, rs1553646540, rs755863625, rs1553679273, rs1553688242, rs1337287633, rs1332061304, rs1553715579, rs374929094, rs539819851, rs1553518813, rs1553519124, rs1553520609, rs1553548771, rs1553891733, rs1366853918, rs1218073575, rs1553537512, rs1553548752, rs1553552384, rs1553530144, rs1553551650, rs747564597, rs1553915731, rs1390379576, rs776059611, rs756726488, rs1357811155, rs1553555768, rs1553536267, rs1553939284, rs1553939600, rs113290650, rs772009599, rs1553569122, rs1255445731, rs1553561525, rs193042896, rs1423137705, rs1553561665, rs1553548018, rs1553561697, rs1553948395, rs1553551748, rs1553963973, rs1553552413, rs1553556275, rs1553561211, rs1553615846, rs761694639, rs781120931, rs760935667, rs755970391, rs765403861, rs1553603400, rs1302373559, rs1553603438, rs1389892619, rs1553710982, rs757157808, rs1180407562, rs1553644243, rs1553983416, rs1553990438, rs1553755829, rs1553757097, rs1180339426, rs1553468960, rs1235589246, rs1443738549, rs1553934586, rs1553517128, rs1553678967, rs1553695209, rs1553695557, rs1553538835, rs1553934597, rs1553539777, rs1553939660, rs1553557405, rs1553939774, rs1185654671, rs1242775893, rs143644938, rs1553717306, rs1553963960, rs1553686994, rs1553589058, rs1373493309, rs1553448527, rs1553694860, rs1553457607, rs1553603933, rs1553763404, rs1475648900, rs1553769576, rs1553487838, rs749452641, rs1553904694, rs111300270, rs1553930053, rs1553939648, rs754369875, rs1553770178, rs112517981, rs1553886582, rs774495973, rs1553512813, rs1342507012, rs1428597732, rs1553939806, rs746999970, rs1553901249, rs1553933986, rs1553947423, rs1553938571, rs1553964158, rs113091511, rs1553472127, rs1553962493, rs1553565278, rs756363951, rs1553579092, rs1553593177, rs1553603958, rs1553468939, rs1553607505, rs1553469502, rs770797137, rs1553495140, rs1553608621, rs1159756073, rs776167256, rs1553642811, rs541803470, rs1553542669, rs1553558398, rs374562457, rs1553689057, rs778593702, rs1553568167, rs1553580540, rs1553586486, rs1553601066, rs750585238, rs1477702016, rs752893483, rs1553689774, rs1560283028, rs2551706848, rs1559580467, rs1560031341, rs1559296376, rs201636991, rs1559039815, rs1559534672, rs748922882, rs780343350, rs772366030, rs1259297878, rs762780413, rs1559360386, rs1037388276, rs1559940778, rs760200697, rs1344099907, rs750900690, rs777819332, rs1559573882, rs1559168230, rs761067911, rs1574981296, rs1323364980, rs537560378, rs752267876, rs1576695735, rs370098540, rs1577244250, rs1577886635, rs1577890764, rs555516831, rs1578011278, rs1553862114, rs1319778592, rs1560499498, rs1574014358, rs1574526903, rs776982138, rs1574820458, rs1575122070, rs1575295628, rs1575358650, rs1576517390, rs1576600442, rs1576704575, rs1577548638, rs1340063197, rs1574772311, rs1576819152, rs1458096844, rs1577833924, rs1577636079, rs1578868550, rs1405498595, rs1575024425, rs1577253760, rs756352186, rs1559207733, rs1575305566, rs1575714905, rs1576203853, rs1392500142, rs779909544, rs753417634, rs552379239, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs781754253, rs1553545126, rs2079459982, rs2084059565, rs2084217268, rs2093334853, rs2096491549, rs2096504394, rs2097449114, rs2097452910, rs1578869371, rs1326513178, rs2097713802, rs2097759896, rs2097886912, rs2098013713, rs763541152, rs2098910159, rs2098919758, rs2099021112, rs2099075936, rs2099082250, rs2099118606, rs2099191297, rs757999917, rs2099785680, rs1177405905, rs2097571378, rs2099350888, rs2097758221, rs1553711195, rs747946275, rs2099076059, rs925947627, rs748358450, rs555582398, rs949111967, rs2092318339, rs2094062438, rs2097711696, rs1301228529, rs2099279723, rs2099780461, rs758277406, rs2080623161, rs2091275452, rs1440532058, rs2096502530, rs2097453337, rs2097773424, rs755390933, rs2099076260, rs1463906422, rs1333519240, rs780299519, rs2099599008, rs2099738446, rs2099762097, rs2064466448, rs2094863263, rs997878946, rs2096501278, rs2097711830, rs2097773972, rs2098273867, rs2098909937, rs2099060040, rs1032240985, rs2080077889, rs2095359371, rs2097548467, rs2099254893, rs2099386637, rs2099762296, rs2099513404, rs1336053002, rs2098919015	RCV000174538 RCV000179210 RCV001645011 RCV001331757 RCV001332960 RCV001907888 RCV001376932 RCV001379042 RCV001377909 RCV001378146 RCV001377790 RCV001379875 RCV003629087 RCV001379504 RCV001377789 RCV001378886 RCV001377211 RCV001376986 RCV001376875 RCV001377628 RCV001377755 RCV001379441 RCV001377912 RCV001379191 RCV001379432 RCV001378539 RCV001381297 RCV001387674 RCV001390341 RCV001387626 RCV001388707 RCV001386615 RCV001384361 RCV001380041 RCV001386523 RCV001384935 RCV001384675 RCV001389270 RCV001390709 RCV001380528 RCV001385559 RCV001388291 RCV001388673 RCV001390700 RCV001386387 RCV001388715 RCV001383952 RCV001383444 RCV001387226 RCV001390085 RCV001384676 RCV001389957 RCV001382943 RCV001389958 RCV001386214 RCV001387843 RCV001386804 RCV001384519 RCV001388620 RCV001381646 RCV001383589 RCV001386832 RCV001383522 RCV001386987 RCV001390731 RCV001390144 RCV001388727 RCV001389222 RCV001380193 RCV001390338 RCV001389907 RCV001384314 RCV001389697 RCV001387965 RCV001381040 RCV001390646 RCV001389080 RCV001383510 RCV001386740 RCV001387052 RCV001383245 RCV001389048 RCV001381137 RCV001386070 RCV001389858 RCV001386527 RCV001389495 RCV001382835 RCV001383801 RCV001382954 RCV001383789 RCV001383953 RCV001385566 RCV001383507 RCV002564229 RCV002568265 RCV002501944 RCV001844381 RCV001844382 RCV001885165 RCV003514523 RCV002544251 RCV002544252 RCV001868865 RCV003629201 RCV003514528 RCV001823584 RCV005014683 RCV002034678 RCV001919308 RCV001944904 RCV002035866 RCV001867547 RCV001874440 RCV002024318 RCV002015029 RCV001990545 RCV001870371 RCV001918993 RCV002038863 RCV001902896 RCV001891576 RCV000117719 RCV001260937 RCV001899305 RCV001906225 RCV001867114 RCV001867142 RCV001905783 RCV001991876 RCV001875268 RCV001864896 RCV002037670 RCV001999842 RCV002037696 RCV001994612 RCV002021930 RCV001917807 RCV001939391 RCV001960572 RCV001960605 RCV001920805 RCV001890914 RCV001938474 RCV001947639 RCV001898103 RCV001950769 RCV001946731 RCV001970182 RCV001942352 RCV001893182 RCV001893233 RCV001893052 RCV001881959 RCV001953732 RCV002008544 RCV001995275 RCV001940285 RCV001982751 RCV001982803 RCV001982861 RCV001992569 RCV001961927 RCV001976435 RCV002017380 RCV001916574 RCV001949648 RCV001914731 RCV001914743 RCV001906870 RCV001884976 RCV001903315 RCV001997573 RCV001946076 RCV001916859 RCV001977847 RCV001901210 RCV002007225 RCV002007306 RCV002007321 RCV002007334 RCV001993314 RCV002037886 RCV002002400 RCV002002405 RCV002002427 RCV001994822 RCV002035241 RCV002007162 RCV001993182 RCV002007194 RCV001899363 RCV001999974 RCV001999982 RCV002000055 RCV002037833 RCV001998395 RCV002007479 RCV002007510 RCV002007513 RCV002035480 RCV002007616 RCV002038269 RCV001939628 RCV001942156 RCV001939680 RCV002025242 RCV002009703 RCV001872945 RCV001941886 RCV001960729 RCV001942052 RCV002011419 RCV001876753 RCV001870159 RCV001895782 RCV001979522 RCV001941580 RCV002037618 RCV001913326 RCV001967175 RCV001953472 RCV002041404 RCV001883036 RCV001913107 RCV001951061 RCV001951092 RCV001951129 RCV001972402 RCV001998884 RCV002003307 RCV001871441 RCV001968710 RCV001948169 RCV001958580 RCV002025272 RCV002014068 RCV002050640 RCV001956260 RCV001956264 RCV001975008 RCV002045950 RCV002045968 RCV001952509 RCV001956117 RCV001961593 RCV001992292 RCV001953536 RCV001953541 RCV001927737 RCV001951355 RCV001951496 RCV002008975 RCV001963126 RCV002002592 RCV001966765 RCV001906803 RCV001978313 RCV001910201 RCV001987212 RCV002015881 RCV001914260 RCV001951556 RCV002048492 RCV001962512 RCV001920354 RCV001890459 RCV002221844 RCV002226992 RCV002250134 RCV003774752 RCV002289188 RCV002289271 RCV002306473 RCV002306484 RCV002306505 RCV002306508 RCV002306577 RCV002306591 RCV002306592 RCV002306624 RCV002306653 RCV002306661 RCV002306685 RCV002306696 RCV002306700 RCV002306714 RCV002306716 RCV002306748 RCV002306813 RCV002306820 RCV002309537 RCV002309539 RCV002309556 RCV002309576 RCV002309598 RCV002309606 RCV002309702 RCV002309706 RCV002309723 RCV002309738 RCV002309743 RCV002309746 RCV002309752 RCV002309760 RCV002309764 RCV002309785 RCV002309789 RCV002309791 RCV002309796 RCV002309824 RCV002309826 RCV002309829 RCV002309858 RCV002309860 RCV002309874 RCV002309912 RCV002309944 RCV002309957 RCV002310015 RCV002310022 RCV002310031 RCV002310042 RCV002310047 RCV002307896 RCV002307917 RCV002308020 RCV002308029 RCV002308030 RCV002308037 RCV002308042 RCV002308057 RCV002308068 RCV002308082 RCV002308088 RCV002308104 RCV002308139 RCV002308174 RCV002308179 RCV002308199 RCV002308206 RCV002308224 RCV002308237 RCV002308243 RCV002308260 RCV002308265 RCV002308291 RCV002308294 RCV002308295 RCV002308296 RCV002308302 RCV002308333 RCV002309011 RCV002309014 RCV002309017 RCV002309025 RCV002309047 RCV002309069 RCV002309077 RCV002309088 RCV002309122 RCV002309132 RCV002309151 RCV002309159 RCV002309174 RCV002309232 RCV002309241 RCV002309254 RCV002309266 RCV002309289 RCV002309298 RCV002309299 RCV002309315 RCV002309319 RCV002309362 RCV002309371 RCV002309378 RCV002309381 RCV002309384 RCV002309387 RCV002309398 RCV002309405 RCV002309410 RCV002309420 RCV002309421 RCV002309433 RCV002309451 RCV002309452 RCV002309456 RCV002309457 RCV002309466 RCV002309472 RCV002309473 RCV002309501 RCV002309510 RCV002306831 RCV002306939 RCV002306957 RCV002306961 RCV002306973 RCV002306996 RCV002307015 RCV002307105 RCV002307110 RCV002307124 RCV002307144 RCV002307190 RCV002307202 RCV002307207 RCV002307208 RCV002307213 RCV002307226 RCV002307230 RCV002307239 RCV002307243 RCV002307261 RCV002307281 RCV002307293 RCV002307295 RCV002307314 RCV002307315 RCV002307316 RCV002307317 RCV002307326 RCV002307347 RCV002310068 RCV002310070 RCV002310076 RCV002310078 RCV002310086 RCV002310106 RCV002310112 RCV002310118 RCV002310121 RCV002310123 RCV002310148 RCV002310167 RCV002310174 RCV002310210 RCV002310237 RCV002310262 RCV002310263 RCV002310284 RCV002310289 RCV002310298 RCV002310303 RCV002310364 RCV002310393 RCV002310401 RCV002310449 RCV002310487 RCV002310517 RCV002310524 RCV002310525 RCV002310533 RCV002310549 RCV002310557 RCV002310561 RCV002310571 RCV002310582 RCV002308386 RCV002308392 RCV002308393 RCV002308446 RCV002308447 RCV002308450 RCV002308451 RCV002308462 RCV002471305 RCV000169318 RCV000169034 RCV003064396 RCV003051316 RCV003074491 RCV003074370 RCV003074391 RCV000664706 RCV003093344 RCV003087304 RCV002585002 RCV002619419 RCV000174822 RCV002651521 RCV002571593 RCV002580212 RCV002569913 RCV002572891 RCV002581418 RCV002594750 RCV002614361 RCV002622134 RCV002634728 RCV002634698 RCV002623138 RCV002640177 RCV002663230 RCV002675884 RCV002725538 RCV002705550 RCV002705678 RCV002720709 RCV002721361 RCV002745442 RCV002740504 RCV002721757 RCV002746045 RCV002736051 RCV002760896 RCV000190608 RCV002791556 RCV002823762 RCV002833247 RCV002811236 RCV002833270 RCV002818982 RCV002801709 RCV002824117 RCV002812076 RCV002829037 RCV002838067 RCV002828761 RCV002833978 RCV000195279 RCV002846670 RCV002834621 RCV002842399 RCV002829405 RCV002843340 RCV002861794 RCV002866260 RCV002852708 RCV002880230 RCV002863845 RCV002857328 RCV002853432 RCV002863677 RCV002863679 RCV002863735 RCV002866460 RCV002853089 RCV002893992 RCV002871773 RCV002848418 RCV002862594 RCV002857736 RCV002857774 RCV002871321 RCV002871348 RCV002871362 RCV002894848 RCV002885357 RCV002867609 RCV002867718 RCV000193542 RCV002867864 RCV002908294 RCV002913630 RCV002885265 RCV002885287 RCV002885191 RCV002899351 RCV002908084 RCV002914668 RCV002942144 RCV002957315 RCV002904203 RCV002932690 RCV002962621 RCV002953702 RCV002975540 RCV002970591 RCV002966600 RCV003007802 RCV002999991 RCV003009559 RCV002976255 RCV003003101 RCV003023155 RCV003005878 RCV003028061 RCV003028070 RCV003022891 RCV003014660 RCV003012388 RCV003016610 RCV003014514 RCV003017975 RCV003003292 RCV003009977 RCV003022114 RCV003023283 RCV003029506 RCV003020120 RCV003024034 RCV003029620 RCV003029627 RCV003029400 RCV003027219 RCV003020002 RCV003022549 RCV003045889 RCV003026978 RCV003026991 RCV003023349 RCV003041894 RCV003029111 RCV003030643 RCV003055265 RCV003055545 RCV003040384 RCV003059088 RCV003043355 RCV003049335 RCV003035387 RCV003047505 RCV003047507 RCV003027968 RCV003047388 RCV003055827 RCV003032883 RCV003036054 RCV003036081 RCV003056053 RCV003036781 RCV003036817 RCV003044954 RCV003048817 RCV003052149 RCV003064068 RCV003058161 RCV000674830 RCV000541914 RCV002810049 RCV002790032 RCV003154285 RCV003130912 RCV003226147 RCV000666987 RCV000593350 RCV001214721 RCV000670684 RCV000625834 RCV001058361 RCV003229530 RCV003629256 RCV003234825 RCV003234826 RCV003236761 RCV001859665 RCV000303625 RCV004555663 RCV003445305 RCV003445441 RCV003629278 RCV003514644 RCV003629279 RCV005100187 RCV003779060 RCV003629280 RCV005927717 RCV003514645 RCV005021974 RCV003779061 RCV003514646 RCV003629281 RCV005030043 RCV003629282 RCV003629283 RCV004796812 RCV003779062 RCV005021977 RCV005021978 RCV005100188 RCV003514647 RCV003629285 RCV005608968 RCV003779063 RCV005030044 RCV003514648 RCV000701787 RCV003514653 RCV003514733 RCV003515465 RCV003515292 RCV003515364 RCV003515398 RCV003515405 RCV003515453 RCV003514665 RCV003514694 RCV003514747 RCV003514748 RCV003515286 RCV003515291 RCV003515605 RCV003513808 RCV003515597 RCV003515602 RCV003515586 RCV003515639 RCV003515688 RCV003513850 RCV003515674 RCV003515729 RCV003515734 RCV003513957 RCV003513999 RCV003514002 RCV003514042 RCV003514277 RCV003513994 RCV003516217 RCV003516201 RCV003516211 RCV003514097 RCV003514298 RCV003516481 RCV003514812 RCV003514858 RCV003516286 RCV003516291 RCV003516292 RCV003516293 RCV003514788 RCV003514789 RCV003514792 RCV003516572 RCV003516501 RCV000015090 RCV000015091 RCV003514994 RCV000015094 RCV000015095 RCV003515195 RCV003515788 RCV003515800 RCV003515801 RCV003514934 RCV003515076 RCV003515077 RCV003515176 RCV003514954 RCV003515053 RCV003515149 RCV003515161 RCV003515208 RCV003515209 RCV003515853 RCV003515902 RCV003515911 RCV003515988 RCV003516048 RCV003515779 RCV003515836 RCV003515886 RCV003515929 RCV003515973 RCV003516077 RCV003515834 RCV003516024 RCV003516099 RCV003515820 RCV003515954 RCV003515961 RCV003629369 RCV003629440 RCV003629463 RCV003629460 RCV003629340 RCV003629354 RCV003629509 RCV003629578 RCV003629553 RCV003629554 RCV003630102 RCV003629544 RCV003629579 RCV003630191 RCV003630238 RCV003630241 RCV003630300 RCV003630342 RCV003630362 RCV003630355 RCV003630219 RCV003630289 RCV003630387 RCV003630513 RCV003630401 RCV003630505 RCV003630474 RCV003630501 RCV003630408 RCV003630468 RCV003630536 RCV003630767 RCV003630576 RCV003630581 RCV003630648 RCV003630761 RCV003630547 RCV003630630 RCV003630636 RCV003630664 RCV003630667 RCV003630723 RCV003630727 RCV003630567 RCV003630627 RCV003630715 RCV003630894 RCV003630945 RCV003630947 RCV003630810 RCV003630812 RCV003630835 RCV003630939 RCV003630965 RCV003630851 RCV003630928 RCV003630794 RCV003630797 RCV003630903 RCV003630926 RCV003630957 RCV003630976 RCV003630979 RCV003631000 RCV003628639 RCV003628682 RCV003630989 RCV003631021 RCV003631027 RCV003631028 RCV003631054 RCV003631057 RCV003628619 RCV003628621 RCV003631069 RCV003628617 RCV003628668 RCV003628688 RCV003628759 RCV003628779 RCV003628807 RCV003628845 RCV003628792 RCV003628972 RCV003629059 RCV003628865 RCV003628867 RCV003628986 RCV003629639 RCV003629946 RCV003825022 RCV003825593 RCV003840172 RCV003834436 RCV003839748 RCV003843025 RCV003842834 RCV003853588 RCV003863243 RCV003852604 RCV003876607 RCV003876852 RCV004587639 RCV004547201 RCV004547414 RCV004576152 RCV004576153 RCV004576154 RCV004576155 RCV005059554 RCV000409018 RCV000410019 RCV000412054 RCV000410551 RCV000409074 RCV000410029 RCV000411004 RCV000411510 RCV000411276 RCV000410803 RCV000411613 RCV000667230 RCV000416472 RCV000528659 RCV001382399 RCV001086213 RCV001851357 RCV000670685 RCV000501386 RCV000503091 RCV000503765 RCV000641301 RCV000665375 RCV000763062 RCV000984199 RCV000529040 RCV000695627 RCV000536181 RCV000544699 RCV000538965 RCV000530933 RCV000540499 RCV000542569 RCV000549309 RCV000531403 RCV000532067 RCV000550620 RCV000542794 RCV000530974 RCV000674606 RCV000763063 RCV000666431 RCV000601389 RCV002531111 RCV000611555 RCV000820159 RCV000674712 RCV000641322 RCV000641338 RCV000641351 RCV000641305 RCV000641300 RCV000641368 RCV000641382 RCV000641321 RCV000641324 RCV000668595 RCV000664759 RCV000666414 RCV000673545 RCV000666639 RCV000674303 RCV000667046 RCV000673935 RCV000669878 RCV000667024 RCV000668439 RCV000667130 RCV000667269 RCV000666218 RCV000667580 RCV000669332 RCV000667268 RCV000672657 RCV000667317 RCV000667071 RCV000673055 RCV000673439 RCV000667315 RCV000667264 RCV000673418 RCV000668686 RCV000667244 RCV000667272 RCV000674809 RCV000674028 RCV000672900 RCV000666960 RCV000668980 RCV000673954 RCV000670359 RCV000665479 RCV000674080 RCV000670020 RCV000667496 RCV000668192 RCV000669897 RCV000668220 RCV000674288 RCV000667053 RCV000670683 RCV000674098 RCV000670681 RCV000671569 RCV000665042 RCV000671852 RCV000671088 RCV000670367 RCV000671664 RCV000665614 RCV000674345 RCV000674962 RCV000673508 RCV000667092 RCV000670567 RCV000667193 RCV000667988 RCV000668888 RCV000668738 RCV000674385 RCV000664609 RCV000668564 RCV000669938 RCV000670104 RCV000666646 RCV000665797 RCV000668972 RCV000672823 RCV000672863 RCV000672682 RCV000674277 RCV000667664 RCV000673087 RCV000669212 RCV000672276 RCV000664684 RCV000674265 RCV000665581 RCV000666141 RCV000671484 RCV000672080 RCV000669729 RCV000667263 RCV000667261 RCV000674627 RCV000667236 RCV000673528 RCV000673543 RCV000673447 RCV000674694 RCV000667258 RCV000667250 RCV000667890 RCV000667108 RCV000666891 RCV000669949 RCV000672491 RCV000666954 RCV000667227 RCV000666011 RCV000665979 RCV000669000 RCV000669880 RCV000668437 RCV000669140 RCV000667078 RCV000668854 RCV000671973 RCV000673485 RCV000671621 RCV000666884 RCV000667239 RCV000667204 RCV000664673 RCV000672850 RCV000669164 RCV000669437 RCV000673657 RCV000674852 RCV000674625 RCV000665864 RCV000674087 RCV000667048 RCV000666879 RCV000673522 RCV000673991 RCV000667254 RCV000667398 RCV000668497 RCV000667030 RCV000669059 RCV000667266 RCV000667256 RCV000669721 RCV000672922 RCV000667927 RCV000667077 RCV000670383 RCV000674324 RCV000667243 RCV000665909 RCV000667446 RCV000672695 RCV000667067 RCV000667235 RCV000674957 RCV000672789 RCV000667238 RCV000667225 RCV000667509 RCV000674550 RCV000665100 RCV000673194 RCV000668960 RCV000667221 RCV000674397 RCV000675022 RCV000667220 RCV000671030 RCV000667575 RCV000667184 RCV000667234 RCV000667228 RCV000666609 RCV000668090 RCV000673988 RCV000672930 RCV000667075 RCV000665068 RCV000668568 RCV000667209 RCV000669941 RCV000665044 RCV000667224 RCV000667223 RCV000667665 RCV000669670 RCV000670089 RCV000674630 RCV000667311 RCV000696844 RCV003516050 RCV000688288 RCV000705853 RCV000684864 RCV000696100 RCV000703915 RCV000706769 RCV000687503 RCV000701148 RCV000687624 RCV000705829 RCV000697148 RCV001059086 RCV001382854 RCV000761484 RCV000768443 RCV000778566 RCV001214341 RCV000790962 RCV001869153 RCV001384439 RCV005092324 RCV002535675 RCV000807173 RCV000814228 RCV000815136 RCV000795495 RCV000800326 RCV000800944 RCV000815005 RCV000820187 RCV000817318 RCV000807960 RCV000820616 RCV000798701 RCV000807166 RCV000812629 RCV000792283 RCV000823396 RCV000799249 RCV000820632 RCV000798439 RCV000798379 RCV000813151 RCV000794014 RCV000799792 RCV000809508 RCV000817209 RCV000813806 RCV000803230 RCV000802129 RCV000817485 RCV000822444 RCV000794175 RCV000793645 RCV000807407 RCV000805570 RCV000795392 RCV000795877 RCV000851330 RCV000853274 RCV000853275 RCV000853237 RCV000986830 RCV000986831 RCV000986832 RCV000986834 RCV000986836 RCV000986840 RCV001377795 RCV000995584 RCV000995585 RCV001004942 RCV001005019 RCV001007837 RCV001027690 RCV001027691 RCV001060847 RCV001047849 RCV001036656 RCV001065938 RCV001066747 RCV001056557 RCV001068783 RCV001037959 RCV001042792 RCV001062296 RCV001071613 RCV001066131 RCV001036478 RCV001055926 RCV001067346 RCV001061724 RCV001042608 RCV001068325 RCV001045731 RCV001059281 RCV001061559 RCV001068288 RCV001050087 RCV001070828 RCV001058971 RCV001050990 RCV001060650 RCV001048753 RCV001048805 RCV001057491 RCV001043979 RCV001260938 RCV003769022 RCV001384495 RCV001222350 RCV001222360 RCV005029783 RCV001222340 RCV001222359 RCV001222507 RCV001219551 RCV001216978 RCV001222423 RCV001224610 RCV001212317 RCV001206126 RCV001204763 RCV001205851 RCV001210737 RCV001211754 RCV001214143 RCV001209462 RCV001210279 RCV001212682 RCV001201520 RCV001212780 RCV001213646 RCV001209213 RCV001204410 RCV001214060 RCV001222731 RCV001225397 RCV001234976 RCV001233353 RCV001229790 RCV001232529 RCV001234685 RCV001227580 RCV001226011 RCV001232824 RCV001235353 RCV001243966 RCV001241288 RCV001243431 RCV001245953 RCV001248376 RCV001246899 RCV001232516 RCV001242932 RCV001830055 RCV001261531 RCV001267672 RCV001267678	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs769345284	RCV000170577	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic; Likely pathogenic	rs2152829108, rs1421095081	RCV005911067 RCV005928452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic	rs545937015	RCV005900713	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Actin accumulation myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NEBULIN-RELATED MYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET NEMALINE MYOPATHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF NECK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital structural myopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEGLUTITION DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL NEBULIN MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE NEMALINE MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb pain	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle weakness	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOPATHIES, NEMALINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nebulin-related early-onset distal myopathy	Conflicting classifications of pathogenicity; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline Myopathy, Recessive	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Progressive proximal muscle weakness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE CONGENITAL NEMALINE MYOPATHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPICAL NEMALINE MYOPATHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	25938837		★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	BEFREE	29274205		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	27933661		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap Myopathy	BEFREE	25079567		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19005210		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30853092		★☆☆☆☆ Found in Text Mining only
Childhood-onset nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33428592	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	GENOMICS_ENGLAND_DG	12207937		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	17303423, 21350120, 22358459, 23715096, 26403434, 26562614		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	21724397, 23443021, 26403434		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	23443021	Associate	★☆☆☆☆ Found in Text Mining only
Distal nebulin myopathy	Distal Nebulin Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10051637, 12207937, 15221447, 15266303, 15336686, 16917880, 17525139, 19805734, 21724397, 25205138, 27933661, 2838409		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22949810	Inhibit	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG	26036949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoproteinemia	Hypoproteinemia	BEFREE	29742595		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25296583		★☆☆☆☆ Found in Text Mining only
Intermediate nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	10051637	Associate	★☆☆☆☆ Found in Text Mining only
Lethal multiple pterygium syndrome	Lethal Multiple Pterygium Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20362230	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	27750045	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidosis Type IV	Mucolipidosis	BEFREE	22281206		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10051637, 12207937, 15221447, 15266303, 15336686, 16917880, 17525139, 19805734, 21724397, 25205138, 27933661, 2838409		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25743686	Associate	★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	BEFREE	28336317		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	ORPHANET_DG	28336317		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	3288996, 3292289	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	3288996, 3346018, 3678494		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	10051637, 19232495, 19838523, 22281206, 23443021, 23572184, 24725366, 26197980, 30040739, 30356055, 30467404, 30517146, 31127036, 33397769, 33742414, 34776486, 35576196, 36233295, 37460656, 39252049, 40003902	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	10334479, 11166164, 11257470, 11257471, 11994971, 12207937, 12207938, 15221447, 15336686, 16917880, 17157023, 17525139, 19181091, 19232495, 19346529, 19944167, 20012312, 20940435, 21724397, 22159874, 22172418, 22281206, 22358459, 22367672, 22941215, 23010307, 23443021, 23572184, 23715096, 24046450, 24725366, 24960163, 25740301, 26197980, 26403434, 26562614, 27105866, 27357517, 27933661, 29848386, 30356055, 30467404, 30689900, 31721788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	LHGDN	12207937, 16917880		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	GENOMICS_ENGLAND_DG	12207937, 9359044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	CLINVAR_DG	12207938, 15336686, 16917880, 17525139, 18330676, 19232495, 24056153, 25110572, 25205138, 25356970, 25525159, 26019235, 26197980, 26809617, 26841830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	12837582, 19005210, 21350120, 21357678, 23443021, 24056153, 25205138, 25740301, 26562614, 27519468, 29792937, 30689900, 8307566		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	23443021, 30057997	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	8307566		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	21350120, 23826317, 35576196	Associate	★☆☆☆☆ Found in Text Mining only
Nemaline Myopathy 2	Nemaline myopathy	GENOMICS_ENGLAND_DG	10051637, 12207937, 27933661, 9359044		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline Myopathy 2	Nemaline myopathy	CLINGEN_DG	10051637, 12837582, 16902413, 22941678, 24960163, 25949787, 26123491, 27105866, 30517146		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline Myopathy 2	Nemaline myopathy	CLINVAR_DG	12207938, 16917880, 17525139, 19805734, 21520333, 21724397, 22367672, 22941678, 23572184, 24056153, 24725366, 25079567, 25110572, 25205138, 25205148, 25356970, 25525159, 26197980, 26403434, 26578207, 26809612, 26809617, 26841830, 27105866, 27357428, 27854218, 27933661, 28132693		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline Myopathy 2	Nemaline myopathy	BEFREE	19944167, 9359044		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline Myopathy 2	Nemaline myopathy	Pubtator	27346006, 27346010, 27346011, 32062132	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline Myopathy 2	Nemaline myopathy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline Myopathy, Childhood Onset	Nemaline myopathy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	22468856, 23572184		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	26578207, 30040739, 32403337	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular dysphagia	Neuromuscular dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	27933661, 28336317		★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	25938837		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	34776486	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe congenital nemaline myopathy	Congenital Nemaline Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37340028	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Sternocleidomastoid amyotrophy	Sternocleidomastoid amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	28391287		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	28391287	Associate	★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	25748235	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38049758	Associate	★☆☆☆☆ Found in Text Mining only
Typical nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations