Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8291
Gene name	Dysferlin
Gene symbol	DYSF
Synonyms (NCBI Gene)	FER1L1LGMD2BLGMDR2MMD1
Chromosome	2
Chromosome location	2p13.2
Summary	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events,

391

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28937581	G>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs34061568	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs34387018	C>A,G,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs34997054	G>A	Benign-likely-benign, likely-pathogenic, benign	Coding sequence variant, missense variant, non coding transcript variant
rs61746816	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs76086153	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs112007817	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs114986640	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs115407852	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs115849497	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs116733194	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs121908953	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121908954	A>G	Benign-likely-benign, not-provided, pathogenic, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs121908955	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121908956	C>A,G,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908957	TG>AT	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908958	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908959	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs121908960	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908961	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121908962	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908963	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137855767	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs138111360	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs138268837	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs138654170	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs139258703	C>A,G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs139529811	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs139754493	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs139879284	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs139983909	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs140108514	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs140667960	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs140809078	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs141137410	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs141497053	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs141720146	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs141818764	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs141867897	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs142301132	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs142404822	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs142483266	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs142769942	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs143762717	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs144636654	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs144936357	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs145007061	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs145272777	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs145412880	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs146687581	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs146970014	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs147244033	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147483765	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs148055736	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs148858485	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs148860301	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs149087116	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs149827237	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs149979662	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150093305	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150355624	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150877497	G>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs151268930	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs151276652	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs151317754	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs180970066	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs183489578	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs185350547	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs185596534	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs189923208	G>A	Pathogenic	Splice acceptor variant
rs191337920	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs191746041	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs199543257	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs199608017	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199870606	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs199954546	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs199955501	T>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200916654	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200957354	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200970855	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201049092	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201070766	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201191038	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201239189	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs201319864	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs201476613	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201592500	G>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs201869739	G>A	Pathogenic	Splice donor variant
rs201890095	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs202044973	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs202123283	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs202218890	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368142107	G>A,C,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs369607332	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs370872013	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs370874727	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs371686795	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373098428	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant
rs373328706	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs373585652	C>G,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs374489513	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374934430	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs375160101	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs375485030	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs376293526	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs377056951	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs377735262	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123763	G>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Splice donor variant
rs398123764	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123765	T>C	Pathogenic	Splice donor variant
rs398123767	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123768	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs398123769	A>G	Pathogenic	Splice acceptor variant
rs398123770	G>A	Pathogenic	Intron variant, splice acceptor variant
rs398123771	T>A	Pathogenic	Splice donor variant
rs398123772	G>-,GG	Pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs398123773	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123774	GGAGG>-	Pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs398123776	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123777	AGACC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123778	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs398123780	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123781	TG>AA	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant, stop gained
rs398123782	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123783	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123784	CC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123786	C>-,CC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123787	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123789	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123790	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs398123791	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs398123792	A>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs398123793	G>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398123794	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs398123795	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123796	AG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123797	CAGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123798	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398123799	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123800	G>C	Pathogenic	Splice donor variant
rs398123802	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs530181166	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs534331009	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs546679270	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs549673939	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs555206040	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs566381009	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs577921112	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs727503909	G>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs727503911	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs727503912	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs727503915	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs745891180	G>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant
rs746243052	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs746315830	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs746480529	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs746873768	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs747289205	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs748159785	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs748542672	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs750028300	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs751473506	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs752479889	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs753711667	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs753861836	G>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant
rs755103680	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs755849745	GACA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756118312	->C	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756328339	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs756689063	G>A	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs757917335	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs758107024	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758180890	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, not-provided	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant, stop gained
rs758944159	T>A,C	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs759939755	T>A,C	Likely-pathogenic	Splice donor variant
rs762226707	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs762258343	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs763198861	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs763674597	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766016391	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766341386	TT>-,TTT	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs766433603	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Intron variant
rs766891289	C>A,G,T	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs766936914	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs767049254	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs768425085	->AGAGTGC	Pathogenic, uncertain-significance	Intron variant, non coding transcript variant, splice donor variant, coding sequence variant
rs768546511	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs769289729	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs769721856	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs769873428	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs770905160	C>G,T	Likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs771257070	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs772066982	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs773386253	G>A	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs773837400	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs774047700	A>-	Pathogenic	Splice acceptor variant
rs774464702	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs776472879	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs777167646	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs777216777	G>T	Pathogenic	Splice donor variant
rs778065845	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs778092738	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs778185705	C>A,T	Uncertain-significance, pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs778686949	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs779407815	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs779969348	G>-,GG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs779987458	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs786200896	GCCCG>CCCC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786200897	A>G	Pathogenic	Splice acceptor variant
rs786200898	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs786205081	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786205082	->TCCCACAGACCTACTGTGTGTAC	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant
rs786205083	A>G	Pathogenic	Intron variant
rs786205084	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs786205524	G>A	Likely-pathogenic	Splice acceptor variant
rs786205525	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205632	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727343	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727534	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727636	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727851	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225019	->GGACTTGCCGCAGAG	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs863225020	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225021	C>G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs866823474	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886039573	T>A	Likely-pathogenic, pathogenic	Intron variant
rs886042091	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042093	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886042095	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042110	G>C,T	Likely-pathogenic, pathogenic	Intron variant
rs886042318	->GAGTGAGC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886042379	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042389	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886042452	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs886042504	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042578	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042581	G>A	Pathogenic	Splice donor variant, non coding transcript variant
rs886042584	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886042590	T>G	Pathogenic	Splice donor variant
rs886042617	T>C	Pathogenic	Splice donor variant
rs886042632	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042633	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886042635	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042636	G>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042641	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042680	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042827	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042878	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs886042879	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042951	T>C	Pathogenic	Splice donor variant
rs886042970	T>A	Pathogenic	Splice donor variant
rs886043145	C>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886043149	A>G	Pathogenic	Splice acceptor variant
rs886043170	G>A	Pathogenic	Splice acceptor variant
rs886043328	CA>-	Pathogenic	Splice acceptor variant, intron variant
rs886043342	C>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043489	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs886043884	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886043900	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886043901	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886043964	A>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs886043966	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886044131	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs886044258	G>A	Pathogenic	Splice donor variant
rs886044355	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044377	G>A	Likely-pathogenic	Splice donor variant
rs886044379	G>T	Pathogenic	Splice acceptor variant
rs886044381	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044386	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044390	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044410	C>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs886044411	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044422	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044537	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs909564120	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs934428561	A>G	Pathogenic	Splice acceptor variant
rs1023002894	G>A	Pathogenic	Intron variant
rs1024524968	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1027145211	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1057516051	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057519132	T>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057521141	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064794020	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1064797253	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1131691651	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1131692158	G>A,C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1163488527	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1179051248	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1213965862	A>G	Likely-pathogenic	Splice acceptor variant
rs1230790473	C>G,T	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1236367931	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1259378167	A>G	Likely-pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs1268594965	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1278864604	G>A	Likely-pathogenic	Splice donor variant
rs1285082850	C>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs1337417322	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1380642629	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1397221551	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1397263011	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1420930684	A>G	Pathogenic	Splice acceptor variant
rs1423123313	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1446214240	->GTT	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, inframe insertion
rs1451269647	A>C,G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1456182703	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1459713589	T>C	Likely-pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant
rs1474151297	G>C	Pathogenic	Splice donor variant
rs1553370437	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553376538	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1553376558	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553376691	G>A	Likely-pathogenic	Splice donor variant
rs1553377740	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553377764	T>A	Likely-pathogenic	Splice donor variant
rs1553381945	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553383144	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553408378	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553412826	T>C	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs1553414413	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553415109	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553415211	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553415233	T>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553416039	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553416197	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553420738	A>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553420848	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553422709	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553422723	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553495983	->CTAC	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553508863	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553518087	G>A	Likely-pathogenic	Splice acceptor variant
rs1553521017	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553521119	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522104	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522133	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522730	A>G	Likely-pathogenic	Splice acceptor variant
rs1553522751	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553525756	GC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553531682	A>C	Likely-pathogenic	Splice acceptor variant
rs1553535902	G>A	Pathogenic	Splice donor variant
rs1553536007	G>A	Likely-pathogenic	Splice donor variant
rs1553537332	G>-	Likely-pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1553541329	C>AA	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553542142	A>G	Pathogenic	Splice acceptor variant
rs1553542704	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553542773	->TTCT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553543506	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553551006	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553553888	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553553943	T>A	Pathogenic	Splice donor variant
rs1553555585	G>T	Likely-pathogenic	Splice donor variant
rs1553556116	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558513494	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558583697	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558613592	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558708492	G>A	Likely-pathogenic	Splice donor variant
rs1558750788	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558771348	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558783870	->CC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558787893	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1558817973	GCCCAACATGA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1559021086	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1559053603	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1559065297	A>G	Likely-pathogenic	Splice acceptor variant
rs1559079887	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559100639	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1559109621	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559141367	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559162681	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1559177278	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572994572	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573009747	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1573094617	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1573094789	G>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1573100371	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1573138313	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1573138336	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1573671276	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573704236	G>C	Pathogenic	Intron variant
rs1573743003	GCTCAGGAGCGCATGAAGGAATCGTATTTGGTTTTCTTTGTAGCTGGAG>A	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs1573744795	->TTGCCGCAGAGTGC	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, splice donor variant
rs1573928936	->TGGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573943246	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573949142	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574016452	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574097294	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574264671	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574277160	CAGCCAGCCGTCGGGG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574340403	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574340607	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574341049	G>-	Likely-pathogenic	Intron variant
rs1574354166	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574354515	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments
MIRT949882	hsa-miR-1252	CLIP-seq
MIRT949883	hsa-miR-1275	CLIP-seq
MIRT949884	hsa-miR-3175	CLIP-seq
MIRT949885	hsa-miR-3940-5p	CLIP-seq
MIRT949886	hsa-miR-4434	CLIP-seq
MIRT949887	hsa-miR-4507	CLIP-seq
MIRT949888	hsa-miR-4516	CLIP-seq
MIRT949889	hsa-miR-4525	CLIP-seq
MIRT949890	hsa-miR-4665-5p	CLIP-seq
MIRT949891	hsa-miR-4723-5p	CLIP-seq
MIRT949892	hsa-miR-625	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002280	Process	Monocyte activation involved in immune response	IEA
GO:0002280	Process	Monocyte activation involved in immune response	IMP	18276788
GO:0002281	Process	Macrophage activation involved in immune response	IEA
GO:0002281	Process	Macrophage activation involved in immune response	IMP	18276788
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	24239457
GO:0005515	Function	Protein binding	IPI	17185750, 23414517, 24687993, 32296183
GO:0005543	Function	Phospholipid binding	IDA	24239457
GO:0005544	Function	Calcium-dependent phospholipid binding	IMP	11959863
GO:0005768	Component	Endosome	IDA	20595382
GO:0005769	Component	Early endosome	IDA	20595382
GO:0005770	Component	Late endosome	IDA	20595382
GO:0005886	Component	Plasma membrane	IDA	20595382, 24239457, 26707827
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10496277
GO:0008289	Function	Lipid binding	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0030139	Component	Endocytic vesicle	IDA	20595382
GO:0030315	Component	T-tubule	IDA	17185750
GO:0030315	Component	T-tubule	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IDA	26707827
GO:0034451	Component	Centriolar satellite	IDA
GO:0034451	Component	Centriolar satellite	IEA
GO:0042383	Component	Sarcolemma	IDA	17185750
GO:0042383	Component	Sarcolemma	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0050765	Process	Negative regulation of phagocytosis	IEA
GO:0050765	Process	Negative regulation of phagocytosis	IMP	18276788
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
603009	3097	ENSG00000135636

O75923

Protein name

Dysferlin (Dystrophy-associated fer-1-like protein) (Fer-1-like protein 1)

Protein function

Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by me

PDB

4CAH , 4CAI , 4IHB , 4IQH , 7JOF , 7K6B , 7KRB , 9B8K , 9B8L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	1 → 103	C2 domain	Domain
PF00168	C2	220 → 323	C2 domain	Domain
PF08151	FerI	324 → 374	FerI (NUC094) domain	Domain
PF00168	C2	379 → 496	C2 domain	Domain
PF08165	FerA	695 → 759	FerA (NUC095) domain	Domain
PF08150	FerB	786 → 859	FerB (NUC096) domain	Domain
PF00168	C2	1152 → 1260	C2 domain	Domain
PF00168	C2	1333 → 1439	C2 domain	Domain
PF00168	C2	1578 → 1678	C2 domain	Domain
PF00168	C2	1812 → 1944	C2 domain	Domain
PF16165	Ferlin_C	1971 → 2075	Ferlin C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lo

Sequence

MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLD
QGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQ
VSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGP
GAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPV
VKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGE
FRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED
KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFV
EVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYL
SMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYT
ELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYS
ATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVV
LSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGC
SQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLR
ALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPM
EKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLT
YPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRL
PGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPP
ERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFH
LEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRP
TISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWD
QTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPL
TRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYM
VPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNF
DICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSP
QGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFD
TLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAI
PMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIP
CTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGL
PQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPN
PHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPP
FNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRS
LGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDD
FLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKI
LAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILW
RRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS

Sequence length

2080

Interactions

View interactions

	Reactome
			Smooth Muscle Contraction

5938

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Pathogenic; Likely pathogenic	rs398123802, rs2152682705, rs2152728763, rs2152760967, rs2152855822, rs1558584694, rs2152940909, rs2152971975, rs369607332, rs121908955, rs758107024	RCV001814050 RCV001814314 RCV001814403 RCV001814514 RCV001814573 RCV001814339 RCV001814577 RCV001814444 RCV001814110 RCV001813961 RCV001814254
Absent muscle fiber dysferlin	Pathogenic	rs1553551006	RCV000626847
Acute myeloid leukemia	Pathogenic; Likely pathogenic	rs370874727, rs2152728575, rs886044537	RCV005889935 RCV005926827 RCV005895898
Autosomal recessive limb-girdle muscular dystrophy	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs398123774, rs140108514, rs398123782, rs398123787, rs398123788, rs398123789, rs141704244, rs398123793 View all (134 more)	RCV005600649 RCV006252429 RCV006445495 RCV006252430 RCV006249585 RCV006252431 RCV004998208 RCV005632227 RCV004998211 RCV004689448 RCV003993797 RCV005600652 RCV005600653 RCV005406809 RCV006252434 RCV006252435 RCV005600654 RCV004998216 RCV005252741 RCV003114244 RCV003317083 RCV003330426 RCV005600655 RCV006445498 RCV006252484 RCV005914903 RCV001553578 RCV005601789 RCV005864744 RCV001788847 RCV006448791 RCV005253971 RCV004690166 RCV005253904 RCV006252491 RCV005252773 RCV005055626 RCV002469027 RCV004999773 RCV005406580 RCV005864457 RCV006272102 RCV005254719 RCV003235095 RCV001804906 RCV004800315 RCV005600802 RCV002265663 RCV003155121 RCV005864462 RCV004998419 RCV005893611 RCV002509296 RCV005254664 RCV006445460 RCV005864434 RCV006252413 RCV005430920 RCV002298436 RCV004525846 RCV006252414 RCV003114177 RCV005237357 RCV006252415 RCV006252416 RCV005430921 RCV004525847 RCV004998078 RCV005252832 RCV003123434 RCV005419599 RCV003226741 RCV006252444 RCV003993912 RCV006252445 RCV005252849 RCV006252446 RCV004800370 RCV005600887 RCV005600888 RCV003317179 RCV003230988 RCV005632351 RCV004999208 RCV004999211 RCV001788187 RCV006445646 RCV006252447 RCV006252448 RCV006252449 RCV005864467 RCV003114448 RCV005864470 RCV005600893 RCV004999238 RCV004999239 RCV006445654 RCV005864471 RCV005600895 RCV006445656 RCV005864474 RCV004999247 RCV005864475 RCV006445657 RCV006445658 RCV005600897 RCV006252513 RCV005602045 RCV004801349 RCV004999944 RCV004999965 RCV005602080 RCV006252426 RCV005600902 RCV006252451 RCV006252454 RCV005252937 RCV006447386 RCV003330808 RCV002509453 RCV006252456 RCV003117359 RCV005252975 RCV006252457 RCV005601041 RCV002271535 RCV005252982 RCV005601042 RCV004689806 RCV005252991 RCV005864522 RCV005864521 RCV004586866 RCV006448564 RCV006448561 RCV006252459 RCV004689834 RCV006252460 RCV005240445 RCV005253093 RCV003987685 RCV005601090 RCV005601604 RCV004997360 RCV005601610 RCV005253143 RCV005253649 RCV004782569 RCV005601641 RCV004997570 RCV005864540 RCV006252476 RCV006252477 RCV005633935 RCV004998721 RCV006249722 RCV003226456 RCV003399036
Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs398123773, rs140108514, rs398123777, rs398123781, rs398123782, rs398123786, rs398123787 View all (324 more)	RCV000174082 RCV001273959 RCV000174526 RCV000174882 RCV000174883 RCV000175043 RCV000175175 RCV000984167 RCV005025136 RCV000176550 RCV005031567 RCV000763089 RCV000178878 RCV000984262 RCV000177998 RCV005614381 RCV000178524 RCV001271548 RCV000178688 RCV001274109 RCV000179104 RCV000179122 RCV000179424 RCV000179423 RCV000595897 RCV001831823 RCV000173782 RCV005023377 RCV004555622 RCV005023145 RCV002496058 RCV001542524 RCV005614674 RCV004720317 RCV005868549 RCV005025498 RCV005401899 RCV003339763 RCV003989735 RCV002267704 RCV002272728 RCV002287917 RCV002287918 RCV002287920 RCV002287921 RCV002287923 RCV002289459 RCV000984259 RCV000668306 RCV005025232 RCV002306506 RCV002306514 RCV002306529 RCV002306545 RCV002306561 RCV002306573 RCV002306608 RCV002306623 RCV002306626 RCV002306701 RCV002309584 RCV002309628 RCV002309698 RCV002309767 RCV002310010 RCV002310053 RCV002310059 RCV002307858 RCV002307876 RCV002307952 RCV002307989 RCV002308036 RCV002308052 RCV002308066 RCV002308074 RCV002308195 RCV002308216 RCV002308262 RCV002309037 RCV002309053 RCV002309060 RCV002309064 RCV002309171 RCV002309220 RCV002309407 RCV002306860 RCV002307085 RCV002307145 RCV002307158 RCV002307163 RCV002307253 RCV002307343 RCV002310120 RCV002310131 RCV002310270 RCV002310294 RCV002310318 RCV002310376 RCV002310417 RCV002310516 RCV002308383 RCV002308439 RCV002308470 RCV002465063 RCV005028244 RCV000674572 RCV005409909 RCV005028321 RCV000675177 RCV000176934 RCV000984258 RCV000178195 RCV000178461 RCV000179815 RCV000984257 RCV005027968 RCV000201179 RCV000672247 RCV003992232 RCV000201130 RCV000201076 RCV000201138 RCV000201098 RCV000201092 RCV004813212 RCV000007052 RCV000007053 RCV000007054 RCV000007055 RCV000007057 RCV000007058 RCV000176869 RCV000176936 RCV000007063 RCV000007064 RCV000007065 RCV000007067 RCV000007068 RCV003159090 RCV000007070 RCV000007071 RCV000007072 RCV000596380 RCV003226008 RCV001004980 RCV000763502 RCV000597734 RCV005025412 RCV001828174 RCV000591407 RCV000593550 RCV000292426 RCV000349131 RCV001833324 RCV003234975 RCV000595427 RCV003338500 RCV001727667 RCV000331428 RCV000984260 RCV000359987 RCV000262612 RCV000596973 RCV001254624 RCV001828208 RCV000984261 RCV002494847 RCV005031860 RCV000294536 RCV001828234 RCV005409647 RCV000597376 RCV000594701 RCV005025437 RCV000668205 RCV003307365 RCV000675165 RCV000597496 RCV001172377 RCV005033853 RCV000306643 RCV000326270 RCV000291296 RCV003340929 RCV003337855 RCV003338041 RCV003338182 RCV005614401 RCV004574033 RCV005616639 RCV005616640 RCV005030109 RCV005030156 RCV005030234 RCV003881719 RCV000007073 RCV004576129 RCV005038718 RCV000671692 RCV000410481 RCV000984169 RCV000671182 RCV000668514 RCV000494731 RCV000512137 RCV001834663 RCV000590966 RCV005034157 RCV005409681 RCV003338675 RCV000593315 RCV003338676 RCV000591372 RCV005027710 RCV002491213 RCV000627074 RCV000669143 RCV000656078 RCV000656079 RCV000656701 RCV000671280 RCV000675027 RCV000665139 RCV000672170 RCV000672471 RCV000671395 RCV000669615 RCV000671002 RCV000669537 RCV000664892 RCV000671253 RCV000667055 RCV000670531 RCV000666793 RCV000667000 RCV000672212 RCV000674149 RCV000671892 RCV000665389 RCV000665467 RCV000666947 RCV000668555 RCV000670937 RCV000671651 RCV000666238 RCV000670711 RCV000665852 RCV000668154 RCV000673436 RCV000669562 RCV000665741 RCV000673134 RCV000666916 RCV000670348 RCV000671668 RCV000670424 RCV000668301 RCV000667216 RCV000666237 RCV000674515 RCV000667027 RCV000672671 RCV000667881 RCV000669228 RCV000670990 RCV000673203 RCV000677684 RCV005409729 RCV002290000 RCV000786063 RCV000757939 RCV000758200 RCV000761538 RCV000761509 RCV000779597 RCV000785919 RCV000993848 RCV000993851 RCV000853624 RCV001830689 RCV005411577 RCV001830775 RCV001830826 RCV003338828 RCV000855415 RCV000855417 RCV000855418 RCV000855441 RCV000855442 RCV005029554 RCV001004952 RCV001004973 RCV001004979 RCV001004971 RCV001004981 RCV001004961 RCV001034708 RCV005029589 RCV001827266 RCV003152748 RCV001836103 RCV001828532 RCV005036314 RCV005036491 RCV001263672 RCV005036455 RCV005614494 RCV005036518 RCV001249863 RCV002272435 RCV001264239 RCV001264240 RCV001264241 RCV001264242 RCV001264243 RCV001264244 RCV001264245 RCV001264246 RCV001263671 RCV001263673 RCV001263674 RCV001263675 RCV001263676 RCV001263677 RCV001263678 RCV001263962 RCV001263963 RCV001263964 RCV001263965 RCV001263966 RCV001263967 RCV001263968 RCV001263969 RCV001264128 RCV001264129 RCV001264130 RCV001264131 RCV001264132 RCV001264133 RCV001264134 RCV001264135 RCV001264255 RCV001264256 RCV001264257 RCV001264258 RCV001264259 RCV001264260 RCV001264261
Clear cell carcinoma of kidney	Pathogenic	rs140108514	RCV005886431
Distal lower limb muscle weakness	Pathogenic; Likely pathogenic	rs1553551006, rs1573138313	RCV000626847 RCV000850339
Distal myopathy with anterior tibial onset	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs202044973, rs398123770, rs377735262, rs398123773, rs140108514, rs398123777, rs398123781, rs398123782, rs398123786, rs398123787, rs398123789, rs141704244, rs398123794 View all (170 more)	RCV000763501 RCV005025134 RCV005025135 RCV002477229 RCV005031566 RCV001089587 RCV000763504 RCV005031567 RCV000763089 RCV002498412 RCV002490697 RCV005025137 RCV005409617 RCV005025138 RCV005031568 RCV005025139 RCV002243709 RCV002498413 RCV001810422 RCV005023377 RCV005023145 RCV002496058 RCV005025498 RCV005025766 RCV002492572 RCV005025232 RCV002306506 RCV002306514 RCV002306529 RCV002306545 RCV002306561 RCV002306573 RCV002306608 RCV002306623 RCV002306626 RCV002306701 RCV002309584 RCV002309628 RCV002309698 RCV002309767 RCV002310010 RCV002310053 RCV002310059 RCV002307858 RCV002307876 RCV002307952 RCV002307989 RCV002308036 RCV002308052 RCV002308066 RCV002308074 RCV002308195 RCV002308216 RCV002308262 RCV002309037 RCV002309053 RCV002309060 RCV002309064 RCV002309171 RCV002309220 RCV002309407 RCV002306860 RCV002307085 RCV002307145 RCV002307158 RCV002307163 RCV002307253 RCV002307343 RCV002310120 RCV002310131 RCV002310270 RCV002310294 RCV002310318 RCV002310376 RCV002310417 RCV002310516 RCV002308383 RCV002308439 RCV002308470 RCV002465063 RCV005028244 RCV005028321 RCV005025280 RCV002485170 RCV005025287 RCV005027968 RCV005025327 RCV000763503 RCV005031752 RCV000007048 RCV005025020 RCV005025021 RCV005031402 RCV000763088 RCV000007062 RCV005025023 RCV001196058 RCV005025407 RCV000763502 RCV005025412 RCV005031849 RCV005031850 RCV002502101 RCV001727667 RCV000763505 RCV002502122 RCV005025423 RCV002494847 RCV005031860 RCV005025425 RCV005025437 RCV005033847 RCV005033853 RCV005025440 RCV005030036 RCV005030109 RCV005030156 RCV005030234 RCV002476993 RCV005038718 RCV005027488 RCV005027543 RCV005027592 RCV005034157 RCV002506415 RCV005027710 RCV002491213 RCV002499105 RCV005027769 RCV005027775 RCV005027813 RCV005034238 RCV006257312 RCV005027794 RCV000763506 RCV005027793 RCV002287896 RCV005029453 RCV005411577 RCV005029554 RCV001034708 RCV005029589 RCV002480447 RCV005036314 RCV005036491 RCV001263672 RCV005036455 RCV005036518 RCV001249863 RCV005409791 RCV001264239 RCV001264240 RCV001264241 RCV001264242 RCV001264243 RCV001264244 RCV001264245 RCV001264246 RCV001263671 RCV001263673 RCV001263674 RCV001263675 RCV001263676 RCV001263677 RCV001263678 RCV001263962 RCV001263963 RCV001263964 RCV001263965 RCV001263966 RCV001263967 RCV001263968 RCV001263969 RCV001264128 RCV001264129 RCV001264130 RCV001264131 RCV001264132 RCV001264133 RCV001264134 RCV001264135 RCV001264255 RCV001264256 RCV001264257 RCV001264258 RCV001264259 RCV001264260 RCV001264261
DYSF-related disorder	Pathogenic; Likely pathogenic	rs398123764, rs398123765, rs377735262, rs140108514, rs141704244, rs398123794, rs398123797, rs727503911, rs1559186257, rs774047700, rs786205081, rs758180890, rs202218890, rs766433603, rs892133012 View all (4 more)	RCV003415847 RCV005867871 RCV004549502 RCV003415848 RCV004549503 RCV005867872 RCV003915066 RCV003917498 RCV004548301 RCV004751335 RCV005867729 RCV004547650 RCV003401245 RCV004751442 RCV004731661 RCV004730987 RCV003945451 RCV005870841 RCV005870901
Foot dorsiflexor weakness	Pathogenic	rs1553551006	RCV000626847
Hepatocellular carcinoma	Pathogenic	rs2467168010	RCV005871216
Lung cancer	Likely pathogenic	rs751473506	RCV005901440
Miyoshi muscular dystrophy 1	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123770, rs398123772, rs377735262, rs398123773, rs140108514, rs398123777, rs398123780, rs398123781, rs398123782, rs398123786 View all (351 more)	RCV000763501 RCV003466977 RCV003466978 RCV003466979 RCV003466980 RCV003460748 RCV003466981 RCV003460749 RCV003466982 RCV000233433 RCV003466983 RCV003338409 RCV000763089 RCV001336577 RCV002490697 RCV003460751 RCV003460752 RCV003466985 RCV003466986 RCV003466987 RCV003460753 RCV003466988 RCV002243709 RCV003474680 RCV003474681 RCV003466990 RCV003460754 RCV001810422 RCV005023377 RCV003469742 RCV003469680 RCV003469755 RCV003469748 RCV003463002 RCV001731181 RCV003463048 RCV001731180 RCV003470901 RCV004571093 RCV001808839 RCV005025498 RCV004571456 RCV003471257 RCV004571722 RCV003464217 RCV003470950 RCV004571743 RCV004571511 RCV005409855 RCV005025766 RCV002287925 RCV003462059 RCV003467211 RCV003462058 RCV003467212 RCV002306506 RCV002306514 RCV002306529 RCV002306545 RCV002306561 RCV002306573 RCV002306608 RCV002306623 RCV002306626 RCV002306701 RCV002309584 RCV002309628 RCV002309698 RCV002309767 RCV002310010 RCV002310053 RCV002310059 RCV002307858 RCV002307876 RCV002307952 RCV002307989 RCV002308036 RCV002308052 RCV002308066 RCV002308074 RCV002308195 RCV002308216 RCV002308262 RCV002309037 RCV002309053 RCV002309060 RCV002309064 RCV002309171 RCV002309220 RCV002309407 RCV002306860 RCV002307085 RCV002307145 RCV002307158 RCV002307163 RCV002307253 RCV002307343 RCV002310120 RCV002310131 RCV002310270 RCV002310294 RCV002310318 RCV002310376 RCV002310417 RCV002310516 RCV002308383 RCV002308439 RCV002308470 RCV002465063 RCV002468702 RCV003465948 RCV003459751 RCV004572779 RCV003468855 RCV003459773 RCV005025280 RCV003468860 RCV004572849 RCV003468863 RCV003462284 RCV002485170 RCV004567382 RCV003468872 RCV005027968 RCV005025327 RCV003469178 RCV000763503 RCV003462352 RCV003468915 RCV003459695 RCV003465896 RCV000007047 RCV003466822 RCV000007051 RCV003466823 RCV000007056 RCV003466824 RCV000681612 RCV000007059 RCV000007060 RCV000007061 RCV000007066 RCV003460431 RCV000007069 RCV003466825 RCV000311139 RCV004572677 RCV003469174 RCV003459787 RCV003466044 RCV001089583 RCV000763502 RCV003463720 RCV003469216 RCV003469217 RCV003469219 RCV003469221 RCV002502101 RCV003469225 RCV003463745 RCV003105845 RCV003463747 RCV001727667 RCV001815304 RCV003469228 RCV003469229 RCV003463752 RCV003463753 RCV000763505 RCV003463754 RCV003469232 RCV003469233 RCV005025423 RCV002494847 RCV005031860 RCV003469237 RCV003469238 RCV003469240 RCV003469244 RCV003469245 RCV005025437 RCV004567837 RCV003463775 RCV003469247 RCV005033853 RCV003463777 RCV003463778 RCV004567838 RCV003466067 RCV003337822 RCV003466068 RCV003460000 RCV003460001 RCV003467862 RCV003467864 RCV003467865 RCV003467866 RCV003467867 RCV003467869 RCV003467870 RCV003467871 RCV003467872 RCV003460003 RCV003467873 RCV003475592 RCV003467874 RCV003467875 RCV003460004 RCV003460005 RCV003467876 RCV003467877 RCV003460006 RCV003460007 RCV003467878 RCV003460008 RCV003467879 RCV003460009 RCV003467880 RCV003467881 RCV003467882 RCV003467883 RCV003460010 RCV003460011 RCV003467884 RCV003467885 RCV003467886 RCV003460012 RCV003460013 RCV003467887 RCV003460014 RCV003467888 RCV003467889 RCV003460015 RCV003467890 RCV003467891 RCV003467892 RCV003467893 RCV003460016 RCV003460017 RCV003467894 RCV004574058 RCV005030109 RCV004574095 RCV005030156 RCV005030234 RCV002476993 RCV004576128 RCV004575857 RCV004575858 RCV004575859 RCV004575860 RCV004575861 RCV004575862 RCV004575864 RCV004575865 RCV004575866 RCV004575867 RCV004575868 RCV004575869 RCV004575870 RCV004575871 RCV004567872 RCV003470334 RCV003470372 RCV003470383 RCV005027543 RCV001263253 RCV004568239 RCV005409680 RCV003465328 RCV001731152 RCV003465338 RCV003465340 RCV002506415 RCV005027710 RCV002491213 RCV003465347 RCV002499105 RCV005027769 RCV005027775 RCV003459635 RCV004568528 RCV003465460 RCV004568538 RCV003465454 RCV004568505 RCV004568544 RCV003465440 RCV003465443 RCV003465503 RCV003459630 RCV003465449 RCV005409713 RCV003465444 RCV005027794 RCV003465528 RCV003459640 RCV003465457 RCV003459595 RCV000763506 RCV003459646 RCV003459589 RCV003459608 RCV003465504 RCV003465524 RCV005870825 RCV003465667 RCV004569419 RCV004569421 RCV003461013 RCV005409736 RCV005029453 RCV005411577 RCV003461123 RCV003461204 RCV003461132 RCV000850237 RCV003461294 RCV003467534 RCV005029554 RCV001034708 RCV005029589 RCV003467777 RCV004570145 RCV003467792 RCV002480447 RCV003467720 RCV003469284 RCV005036491 RCV003469350 RCV001263672 RCV003462685 RCV003469441 RCV003469475 RCV001249863 RCV005409791 RCV001264239 RCV001264240 RCV001264241 RCV001264242 RCV001264243 RCV001264244 RCV001264245 RCV001264246 RCV001263671 RCV001263673 RCV001263674 RCV001263675 RCV001263676 RCV001263677 RCV001263678 RCV001263962 RCV001263963 RCV001263964 RCV001263965 RCV001263966 RCV001263967 RCV001263968 RCV001263969 RCV001264128 RCV001264129 RCV001264130 RCV001264131 RCV001264132 RCV001264133 RCV001264134 RCV001264135 RCV001264255 RCV001264256 RCV001264257 RCV001264258 RCV001264259 RCV001264260 RCV001264261
Muscular dystrophy	Pathogenic	rs1324430830	RCV001775503
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs398123772, rs377735262, rs398123773, rs140108514, rs398123776, rs398123777, rs398123781, rs398123782 View all (433 more)	RCV000700616 RCV001050376 RCV003574709 RCV000698361 RCV002515771 RCV003574710 RCV002514411 RCV003574711 RCV001384924 RCV001390522 RCV000697172 RCV001854415 RCV003736571 RCV000535509 RCV001382515 RCV000537543 RCV000536105 RCV001854416 RCV000794872 RCV000548178 RCV001201873 RCV003574712 RCV001384247 RCV003764760 RCV000703813 RCV001217217 RCV000547387 RCV000693273 RCV001386483 RCV001237531 RCV000696449 RCV003236666 RCV000801493 RCV001379579 RCV001908555 RCV001379521 RCV001377377 RCV001379869 RCV001388527 RCV001383734 RCV001382718 RCV001381317 RCV001381502 RCV001386529 RCV001388686 RCV001386620 RCV001387635 RCV001389285 RCV001384842 RCV001380107 RCV001388930 RCV001384365 RCV001380275 RCV001381595 RCV001385077 RCV001381031 RCV002568950 RCV001868822 RCV002541141 RCV001885158 RCV001885159 RCV002544244 RCV002028017 RCV001902626 RCV001905682 RCV001968869 RCV001999841 RCV001999848 RCV001999911 RCV001888810 RCV001932294 RCV001970086 RCV001950781 RCV002003158 RCV001981714 RCV001985376 RCV001985387 RCV002012130 RCV001980111 RCV001962334 RCV001911224 RCV002047913 RCV001993351 RCV002000170 RCV001993396 RCV001976799 RCV001896674 RCV001962921 RCV001939577 RCV001915349 RCV001939368 RCV001925072 RCV001951284 RCV002005540 RCV001936435 RCV001946823 RCV001998988 RCV001925884 RCV001958640 RCV001946656 RCV001995956 RCV002003447 RCV002051269 RCV002041883 RCV001956212 RCV001972811 RCV002045839 RCV001931908 RCV001963080 RCV001915974 RCV001955782 RCV001981669 RCV002042107 RCV001895425 RCV001982343 RCV001886488 RCV002022415 RCV003101356 RCV005095973 RCV003574900 RCV001857527 RCV000809801 RCV003329115 RCV000648019 RCV003738180 RCV003574904 RCV003102298 RCV005096132 RCV003083345 RCV003085524 RCV003087023 RCV002588336 RCV003084706 RCV002637206 RCV002664239 RCV002651475 RCV002651476 RCV002634376 RCV002651478 RCV002664240 RCV002634377 RCV001852168 RCV001231396 RCV001050002 RCV003105132 RCV001852191 RCV000701150 RCV001040341 RCV003118723 RCV000527540 RCV001852238 RCV002691234 RCV002712026 RCV002765775 RCV002790734 RCV002820215 RCV002806913 RCV002824244 RCV002825164 RCV002806712 RCV002838208 RCV002866085 RCV002847379 RCV002866449 RCV002876274 RCV002852823 RCV002907637 RCV000648007 RCV000648020 RCV003009469 RCV000705161 RCV000531181 RCV000526163 RCV000553055 RCV002972254 RCV003028155 RCV003016930 RCV003021279 RCV003014565 RCV003020569 RCV003038626 RCV003022547 RCV003026943 RCV003034727 RCV003042867 RCV003574697 RCV000700124 RCV000815134 RCV000806281 RCV000807968 RCV001851715 RCV001232546 RCV001229764 RCV000808564 RCV001048974 RCV001388966 RCV003574698 RCV001236174 RCV000546602 RCV003059087 RCV003049435 RCV003034867 RCV003030304 RCV003033259 RCV003054982 RCV003039745 RCV003039753 RCV003039636 RCV003055619 RCV003044707 RCV000555598 RCV003778670 RCV003236671 RCV001855002 RCV000817143 RCV001381504 RCV000802767 RCV003232988 RCV001247365 RCV001244501 RCV001855080 RCV001382103 RCV000532444 RCV001070518 RCV001223491 RCV001379694 RCV001381377 RCV000407800 RCV001859579 RCV003765605 RCV001058932 RCV000695592 RCV001380801 RCV002518918 RCV000791498 RCV003736685 RCV001376862 RCV001379021 RCV001037309 RCV003765624 RCV001382219 RCV000809637 RCV000556431 RCV001056145 RCV000817667 RCV000779332 RCV001070067 RCV001855200 RCV001214514 RCV005090385 RCV003574727 RCV003574728 RCV002518057 RCV000647998 RCV001048102 RCV002518120 RCV003574729 RCV002519337 RCV002518128 RCV003736690 RCV001859714 RCV001859715 RCV003575099 RCV003575100 RCV003575101 RCV003738464 RCV003575102 RCV003738465 RCV003575127 RCV003579365 RCV003575335 RCV003575140 RCV003575154 RCV003577758 RCV003577754 RCV003577761 RCV003577817 RCV003573540 RCV003573541 RCV003573542 RCV003573543 RCV003573545 RCV003573559 RCV003573557 RCV003576094 RCV003576136 RCV003576155 RCV003576111 RCV003576119 RCV003576126 RCV003576131 RCV003576128 RCV003576163 RCV003580412 RCV003580416 RCV003578580 RCV003735101 RCV003735175 RCV003735152 RCV003735180 RCV003735188 RCV003735245 RCV003735200 RCV003735237 RCV003735208 RCV003735193 RCV003735233 RCV003735299 RCV003735309 RCV003735251 RCV003735262 RCV003735275 RCV003735332 RCV003735331 RCV003735316 RCV003735433 RCV003735388 RCV003735416 RCV003735522 RCV003735535 RCV003739570 RCV003737099 RCV003738747 RCV003739399 RCV003738749 RCV003824575 RCV003855175 RCV003867124 RCV003866056 RCV003877659 RCV003985163 RCV004006214 RCV001215439 RCV001381690 RCV000689015 RCV001384057 RCV001861509 RCV000537475 RCV003574778 RCV001217776 RCV001382905 RCV000538326 RCV000526783 RCV000552484 RCV000531309 RCV000534201 RCV001853842 RCV001227434 RCV001853996 RCV001238017 RCV001376861 RCV003736833 RCV001867948 RCV003231652 RCV003767389 RCV001378702 RCV003574784 RCV000798409 RCV005091572 RCV002531082 RCV000817766 RCV000822847 RCV000647996 RCV001220606 RCV000694014 RCV001855574 RCV002531316 RCV002531232 RCV003574800 RCV002531273 RCV001058931 RCV003574799 RCV001855467 RCV003574794 RCV001386682 RCV001247195 RCV001861743 RCV000823836 RCV001377517 RCV002531269 RCV001244231 RCV001235470 RCV001053757 RCV003574802 RCV001868234 RCV001256195 RCV003574801 RCV003767952 RCV001061856 RCV002532070 RCV003574795 RCV005091928 RCV001855610 RCV003736882 RCV002532106 RCV001035887 RCV000826104 RCV000702977 RCV000697485 RCV000695163 RCV000687636 RCV000685236 RCV000696956 RCV000695893 RCV000693077 RCV003574806 RCV001388827 RCV003736899 RCV001381127 RCV000809651 RCV003574807 RCV000808887 RCV001381503 RCV000808963 RCV000792716 RCV000810029 RCV000796098 RCV000809399 RCV000800396 RCV000812166 RCV000801537 RCV000798964 RCV000824113 RCV000815299 RCV000824068 RCV000824431 RCV000807471 RCV001869370 RCV002551718 RCV001862745 RCV001070644 RCV001038919 RCV001051739 RCV001043210 RCV001038949 RCV001071497 RCV001062083 RCV001054582 RCV001038453 RCV001063313 RCV001043809 RCV001058448 RCV001064810 RCV001062232 RCV001072066 RCV001064001 RCV001038452 RCV001040069 RCV002938130 RCV003736972 RCV003736973 RCV001227430 RCV001389286 RCV001215690 RCV001224474 RCV001211663 RCV001207233 RCV001207234 RCV001204872 RCV001205457 RCV001208442 RCV001201509 RCV001221399 RCV001220247 RCV001220119 RCV001235835 RCV001234543 RCV001237372 RCV001228540 RCV001233796 RCV001236146 RCV001235799 RCV001246990 RCV001232094 RCV001246686 RCV003574861 RCV001256196 RCV003574867 RCV001880071 RCV001389481 RCV002541614
Pancreatic adenocarcinoma	Pathogenic	rs766433603	RCV005895877
Papillary renal cell carcinoma type 1	Pathogenic	rs140108514	RCV005886430
Peroneal muscle atrophy	Pathogenic	rs1553551006	RCV000626847
Proximal muscle weakness	Pathogenic	rs1057516051	RCV000408636
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1558708492	RCV005897273

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1553542704, rs1230790473	-
Arthralgia	Uncertain significance	rs1553550862	RCV000626761
Cervical cancer	Conflicting classifications of pathogenicity; Likely benign; Benign	rs76576806, rs145007061, rs75563048, rs79084610	RCV005888065 RCV005895592 RCV005905418 RCV005905422
Cholangiocarcinoma	Benign; Likely benign	rs35982795, rs369361727	RCV005886429 RCV005916193
Colorectal cancer	Likely benign	rs142483266	RCV005891954
EMG: myopathic abnormalities	Uncertain significance	rs1553550862	RCV000626761
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign	rs142483266, rs750356247, rs200680233	RCV005891952 RCV005895495 RCV005898110
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs750356247	RCV005895498
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity; Benign	rs151292792, rs76576806, rs142483266, rs2303602, rs79617374	RCV005916359 RCV005888066 RCV005891955 RCV005905639 RCV005905596
Limb-girdle muscular dystrophy, recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs35982795, rs4852801, rs76402294, rs2303596, rs35721373, rs115849497, rs200853014, rs34671418, rs2288355, rs398123778, rs398123779, rs79899601, rs34603128, rs11558179, rs2303606 View all (88 more)	RCV000286315 RCV000304770 RCV000349377 RCV000302229 RCV000317599 RCV000386778 RCV000340583 RCV000381491 RCV000283608 RCV000318489 RCV000352457 RCV000343725 RCV000366553 RCV000385728 RCV000288114 RCV000303528 RCV000331836 RCV000330853 RCV000281446 RCV000351217 RCV000311686 RCV000373692 RCV000281402 RCV000282030 RCV000407709 RCV000360522 RCV000310323 RCV000405200 RCV000318233 RCV000403483 RCV000355712 RCV000328757 RCV000370605 RCV000403556 RCV000352290 RCV000310760 RCV000300857 RCV000322455 RCV000358093 RCV000379509 RCV000270967 RCV000269469 RCV000366269 RCV000350865 RCV000393077 RCV000340889 RCV000338437 RCV000313982 RCV000260561 RCV000264345 RCV000294790 RCV000362344 RCV000288184 RCV000343643 RCV000300931 RCV000392904 RCV000288710 RCV000316173 RCV000321544 RCV000406068 RCV000394798 RCV000392637 RCV000388790 RCV000372276 RCV000358671 RCV000389118 RCV000291639 RCV000313317 RCV000286036 RCV000284809 RCV000321828 RCV000385756 RCV000403176 RCV000330306 RCV000286988 RCV000347373 RCV000392914 RCV000300662 RCV000383115 RCV000360800 RCV000279366 RCV000313252 RCV000267362 RCV000366694 RCV000405282 RCV000353149 RCV000332086 RCV000330768 RCV000344619 RCV000370205 RCV000382395 RCV000392981 RCV000383861 RCV000330580 RCV000279314 RCV000345690 RCV000278825 RCV000401895 RCV000321328 RCV000322753 RCV000361048 RCV000346364 RCV000302284
Malignant tumor of esophagus	Benign; Likely benign	rs2303602, rs75563048, rs79084610	RCV005905638 RCV005905417 RCV005905421
Miyoshi myopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs35982795, rs4852801, rs76402294, rs2303596, rs35721373, rs115849497, rs200853014, rs34671418, rs2288355, rs398123778, rs398123779, rs79899601, rs34603128, rs11558179, rs2303606 View all (91 more)	RCV000324901 RCV000265947 RCV000294385 RCV000357010 RCV000262188 RCV000332709 RCV000285119 RCV000326704 RCV000378035 RCV000263463 RCV000388477 RCV000307614 RCV000309578 RCV000331227 RCV000382443 RCV000339768 RCV000274365 RCV000273478 RCV000378288 RCV000279905 RCV000406762 RCV001787038 RCV000316737 RCV000320140 RCV000316074 RCV000308010 RCV000407720 RCV000404162 RCV000367595 RCV000260697 RCV000336160 RCV000405119 RCV000292466 RCV000297176 RCV000367959 RCV000401726 RCV000365529 RCV000355657 RCV000376750 RCV000300999 RCV000327172 RCV000325795 RCV000361672 RCV000271598 RCV000293655 RCV000338669 RCV000302392 RCV000406757 RCV000371006 RCV000353087 RCV001535516 RCV000356789 RCV000373089 RCV000310014 RCV000345514 RCV000392827 RCV000405461 RCV000343174 RCV000383412 RCV000260889 RCV000373833 RCV000305839 RCV000363042 RCV000342232 RCV000334314 RCV000277756 RCV000264009 RCV000276210 RCV000346595 RCV000370350 RCV000343311 RCV000376994 RCV000378839 RCV000347517 RCV000306031 RCV000276133 RCV000323409 RCV000294142 RCV000300590 RCV000261898 RCV000291078 RCV000265833 RCV000334383 RCV000393103 RCV000361892 RCV000269730 RCV000368731 RCV000260625 RCV000389008 RCV000273396 RCV000382912 RCV000276864 RCV000290337 RCV000297254 RCV000326987 RCV000273158 RCV000387458 RCV000309668 RCV000373211 RCV000304009 RCV000287411 RCV000269990 RCV000263945 RCV000293751 RCV000359410 RCV001535517
Muscle weakness	Uncertain significance	rs1553550862	RCV000626761
Myalgia	Uncertain significance	rs1553550862	RCV000626761
Myopathy	Uncertain significance	rs1573808717	RCV000850311
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs750356247	RCV005895497
Ovarian cancer	Likely benign	rs141275858	RCV005905541
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs760257417, rs72902605, rs201191038, rs61322674, rs75563048, rs141275858	RCV005926133 RCV005892652 RCV005895902 RCV005902198 RCV005905419 RCV005905542
Peripheral neuropathy	Uncertain significance	rs146064054	RCV000449523
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs115407852	RCV003448906
Sarcoma	Likely benign; Benign	rs201698209, rs1429836890, rs61322674	RCV005916430 RCV005928637 RCV005902197
Schizophrenia	Uncertain significance	rs2546559728	RCV002463519
See cases	Uncertain significance	rs201209494, rs375698433	RCV002252100 RCV002252192
Thymoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs76576806, rs72902605, rs2091783251, rs58806374	RCV005888067 RCV005892653 RCV005931595 RCV005902298
Uterine carcinosarcoma	Benign	rs2303602, rs79617374	RCV005905640 RCV005905597
Uterine corpus endometrial carcinoma	Benign	rs61322674	RCV005902199
Uveal melanoma	Benign; Likely benign	rs35982795	RCV005886428

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	20544924
Alstrom Syndrome	Associate	26077327
Anemia Diamond Blackfan	Associate	24454878
Anterior Compartment Syndrome	Associate	19528035, 22318734, 26444858
Asthma	Associate	34510493
Bronchopulmonary Dysplasia	Associate	40244055
Carcinoma Hepatocellular	Associate	29385134
Cone Rod Dystrophies	Associate	26077327
Corneal Dystrophies Hereditary	Associate	20595382, 21412170, 28904177
Crohn Disease	Associate	31956234
Cytochrome c Oxidase Deficiency	Associate	27666772
Death	Associate	28470677
Disease	Associate	15677541
Distal Myopathies	Associate	27666772
Dysferlinopathy	Associate	12132520, 16608842, 16707852, 18974570, 19528035, 20544924, 20595382, 21173544, 21522182, 22194990, 22318734, 22468107, 22616201, 23243261, 23558685 View all (18 more)
Dysferlinopathy	Inhibit	28904177, 31861684, 33246442, 33518658
Glomerulonephritis Membranous	Associate	17132147, 20145676
Glycogen Storage Disease Type II	Associate	31931849
Immunologic Deficiency Syndromes	Inhibit	15515206
Immunologic Deficiency Syndromes	Associate	20595382
Inflammation	Associate	18832576, 23558685, 33246442
Limb girdle muscular dystrophy autosomal recessive	Associate	38110300
Limb girdle muscular dystrophy type 2B	Associate	15677541, 16707852, 17132147, 18495154, 18832576, 19528035, 20096397, 20145676, 21173544, 21522182, 21896784, 22318734, 23243261, 23406536, 25574751 View all (9 more)
Lupus Erythematosus Systemic	Associate	35864995
Lymphedema Congenital Recessive	Associate	31931849
Mitochondrial Diseases	Associate	27666772
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	27666772
Miyoshi myopathy	Associate	15515206, 15677541, 16707852, 16891820, 17132147, 18832576, 19528035, 20096397, 20497525, 21173544, 21522182, 22318734, 23243261, 23406536, 26045819 View all (9 more)
Mucocutaneous Lymph Node Syndrome	Associate	38427757
Multiple Sclerosis	Associate	37380766, 39493765
Muscle Neoplasms	Associate	25574751
Muscle Weakness	Associate	20667157, 32664072, 33246442, 35741838
Muscular Diseases	Associate	18495154, 20145676, 21522182, 22194990, 27229680, 27286750, 35239206
Muscular Dystrophies	Associate	16608842, 20595382, 20667157, 21522182, 22318734, 23558685, 24438169, 27229680, 31019989, 35790299
Muscular Dystrophies	Stimulate	21412170
Muscular Dystrophies Limb Girdle	Associate	16100969, 20544924, 26077327, 27142102, 32683403, 33031319, 33386810, 35239206, 37688281, 38110300, 8808603
Muscular Dystrophies Limb Girdle	Inhibit	22057634
Muscular Dystrophy Duchenne	Associate	38057384
Muscular Dystrophy Limb Girdle Type 1C	Associate	21412170
Myopathy Distal with Anterior Tibial Onset	Associate	20145676, 21522182, 26045819, 31019989, 36012197
Neoplasm Invasiveness	Associate	36604653
Neoplasms	Associate	35065254
Neoplasms	Inhibit	35790299
Nerve Degeneration	Associate	15677541
Neuroinflammatory Diseases	Associate	30836997
Neuromuscular Diseases	Associate	21896784
Neuromuscular Manifestations	Associate	29879922
Osteogenesis imperfecta type 2B	Associate	32664072, 32683403
Pancreatic Neoplasms	Associate	28470677
Plaque Amyloid	Associate	20544924
Pulmonary Disease Chronic Obstructive	Associate	20667157
Respiratory Distress Syndrome	Associate	37336980
Respiratory Paralysis	Associate	20667157
Retinal Dystrophies	Associate	33246442
Retinopathy of Prematurity	Associate	40244055
Rhabdomyolysis	Associate	32978841
Sarcoglycanopathies	Associate	26916285
Supranuclear Palsy Progressive	Associate	25706306
Thyroid Neoplasms	Associate	37854594

DYSF (dysferlin)