SYNE1 (spectrin repeat containing nuclear envelope protein 1)

Gene

• Entrez ID: 23345
• Gene name: Spectrin repeat containing nuclear envelope protein 1
• Gene symbol: SYNE1
• Synonyms (NCBI Gene): 8B, AMC3, AMCM, ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2
• Chromosome: 6
• Chromosome location: 6q25.2
• Summary: This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35686213	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, synonymous variant
rs41301343	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs77853132	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs80265744	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs111367233	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs111511993	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs113163375	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs114858512	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs115534729	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs117360770	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs117480635	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs118022241	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs119103244	G>A,T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs119103245	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs119103246	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs119103248	C>T	Uncertain-significance, pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs137919524	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138004884	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138032057	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs138039375	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138173087	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138277154	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138307449	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138407813	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs138509817	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138617999	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138650597	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138787771	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant
rs139070088	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs139466191	A>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs139480065	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, intron variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs139834542	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs140005424	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs140136749	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140259310	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs140577642	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140861713	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140927945	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs141170182	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141202420	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141263831	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141315921	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs141464488	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs141586001	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs141716975	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs141858284	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs142251671	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs142422990	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs142690727	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs143070183	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs143093185	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs143105336	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143118084	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143490673	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143674856	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs144056525	G>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs144105769	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs144376043	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs144418713	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs144435836	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs145401144	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146180064	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146238726	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146244669	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs146567178	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs146567226	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146705789	A>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146789107	G>C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs147143947	C>A,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs147173664	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs147508177	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs147870520	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs147998933	A>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs148008634	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148028681	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs148240825	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs148376885	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148486281	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs149005052	T>A,C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149109801	A>G,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs149146258	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149260051	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs149272010	C>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149536991	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs149758808	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149901087	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs150072383	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs150170988	G>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150304757	C>T	Benign, benign-likely-benign, likely-benign, likely-pathogenic, uncertain-significance	Intron variant, genic upstream transcript variant, non coding transcript variant
rs150376715	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150637898	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150811468	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs150905950	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs150912982	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs151081036	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs151247098	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs183683592	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs184006845	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs184264920	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs185350092	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs185829704	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs187410988	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs199554198	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs199701902	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs199762799	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs199779021	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs199996504	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200002217	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs200276242	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200412221	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs200424447	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200658991	C>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs201078523	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201146062	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs201344762	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201392317	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs201692248	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs201715967	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs201799566	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant
rs201898019	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, genic downstream transcript variant
rs201908045	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs202207154	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs367603152	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs368364250	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs369587906	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs371017408	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs372723292	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs372744173	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs372832470	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs373129942	G>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs373438870	A>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs375077588	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs375558499	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs375707429	G>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs375826346	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs375862387	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs376033376	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376218204	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376327805	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs376491803	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, intron variant
rs376651419	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs377058395	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs377088951	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant
rs377113267	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs377344899	A>C,G	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs567435072	->A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs569973824	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, synonymous variant
rs570916267	G>A,T	Likely-pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs573806608	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs606231134	T>C	Pathogenic	Genic upstream transcript variant, intron variant
rs606231135	CA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs606231292	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs746328978	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, stop gained
rs746438011	A>G,T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs748695956	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs750318922	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs750669148	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs752224921	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs753367709	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs755531859	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs755622688	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs755709525	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs756713928	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757104773	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757124573	G>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs757280513	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757479164	C>T	Uncertain-significance, pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs757744079	C>A,G	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs758337239	A>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs758375991	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs758555741	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, intron variant
rs759403157	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs759460806	T>C,G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant
rs760209358	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs760715690	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs761266231	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs761395846	A>C,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs761939786	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs763325410	G>A,C	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant
rs763818494	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs763930147	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs765865910	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, coding sequence variant, synonymous variant
rs767090248	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs767294195	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs768958602	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs770210620	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs770448083	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs771573516	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs771857618	T>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs771898973	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs771955377	G>A,T	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs773028680	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs773593843	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs774388631	->T	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant, genic upstream transcript variant
rs776288515	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs776505129	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs776806501	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs780451185	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs780644969	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs780991031	T>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs781552217	T>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs794727110	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs794727577	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727986	AATCA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs797045109	->CC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797046024	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797046025	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs797046026	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs863224927	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs863224928	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs863224929	TCTGAAATAAC>G	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant
rs886042380	T>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886042421	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886042657	GA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886042799	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886043012	->T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886043162	T>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886043645	AGAGACTGCGAAAGCTTCTTTTTGAAAGT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043963	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044155	A>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs886044346	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044380	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044588	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs893217390	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs910956017	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs968884551	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs1057518603	G>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057519157	C>-	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs1057520134	G>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057520552	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057521719	T>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057521813	A>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1060499769	C>T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1064794555	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1064796579	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1064797331	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1064797332	G>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1164612098	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, splice donor variant
rs1174316105	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1194460500	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1203553546	C>A,T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1269308421	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, synonymous variant
rs1362058277	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1385280819	->T	Likely-pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1412791793	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1452163185	A>G,T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1466752822	A>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, stop gained
rs1554226673	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554246434	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554247806	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554372048	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1554414122	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554440887	AGGAGAAT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554451078	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554455233	->T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554468335	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554471992	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554491478	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554544827	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1554550339	C>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant
rs1554553667	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554558620	TCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCTC>-	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554573328	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554676394	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554681651	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554709875	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554721227	AC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554753528	T>C	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant, intron variant
rs1554756035	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554768245	C>-	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554829141	AG>-	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1562643321	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1562842409	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1562984446	C>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1563118316	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1563123183	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1563130387	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1563330296	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs1563391747	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1563941569	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564136499	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564367104	GA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1564400585	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564555089	C>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs1586285494	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1586296730	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1586909309	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1588855714	A>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1589780980	T>GA	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1589919815	AAGGTTACCT>-	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1590102028	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590230520	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590463470	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590820792	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590884711	CTGAGGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590998146	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1592490234	TCACCTCTGC>-	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1593379577	G>C	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1594574182	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001329	hsa-miR-1-3p	pSILAC	18668040
MIRT019351	hsa-miR-148b-3p	Microarray	17612493
MIRT021329	hsa-miR-9-5p	Microarray	17612493
MIRT022525	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT001329	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT029291	hsa-miR-26b-5p	Microarray	19088304
MIRT032256	hsa-let-7b-5p	Proteomics	18668040
MIRT732926	hsa-miR-223-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	31712567
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637342	hsa-miR-1184	CLIP-seq
MIRT2637343	hsa-miR-1205	CLIP-seq
MIRT2637344	hsa-miR-15a	CLIP-seq
MIRT2637345	hsa-miR-15b	CLIP-seq
MIRT2637346	hsa-miR-16	CLIP-seq
MIRT2637347	hsa-miR-195	CLIP-seq
MIRT2637348	hsa-miR-22	CLIP-seq
MIRT2637349	hsa-miR-29a	CLIP-seq
MIRT2637350	hsa-miR-29b	CLIP-seq
MIRT2637351	hsa-miR-29c	CLIP-seq
MIRT2637352	hsa-miR-3064-3p	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2637353	hsa-miR-3122	CLIP-seq
MIRT2637354	hsa-miR-3146	CLIP-seq
MIRT2637355	hsa-miR-3153	CLIP-seq
MIRT2637356	hsa-miR-3158-3p	CLIP-seq
MIRT2637357	hsa-miR-3158-5p	CLIP-seq
MIRT2637358	hsa-miR-3189-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT2637359	hsa-miR-320a	CLIP-seq
MIRT2637360	hsa-miR-320b	CLIP-seq
MIRT2637361	hsa-miR-320c	CLIP-seq
MIRT2637362	hsa-miR-320d	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT2637363	hsa-miR-3909	CLIP-seq
MIRT2637364	hsa-miR-3913-5p	CLIP-seq
MIRT2637365	hsa-miR-424	CLIP-seq
MIRT2637366	hsa-miR-4429	CLIP-seq
MIRT2637367	hsa-miR-4502	CLIP-seq
MIRT2637368	hsa-miR-450b-3p	CLIP-seq
MIRT2637369	hsa-miR-4640-5p	CLIP-seq
MIRT2637370	hsa-miR-4642	CLIP-seq
MIRT2637371	hsa-miR-4668-5p	CLIP-seq
MIRT2637372	hsa-miR-4687-3p	CLIP-seq
MIRT2637373	hsa-miR-4721	CLIP-seq
MIRT2637374	hsa-miR-4724-5p	CLIP-seq
MIRT2637375	hsa-miR-4726-5p	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637376	hsa-miR-4760-3p	CLIP-seq
MIRT2637377	hsa-miR-4761-5p	CLIP-seq
MIRT2637378	hsa-miR-497	CLIP-seq
MIRT2637379	hsa-miR-544	CLIP-seq
MIRT2637380	hsa-miR-601	CLIP-seq
MIRT2637381	hsa-miR-634	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2637382	hsa-miR-647	CLIP-seq
MIRT2637383	hsa-miR-767-5p	CLIP-seq
MIRT2637384	hsa-miR-769-3p	CLIP-seq
MIRT2637385	hsa-miR-934	CLIP-seq
MIRT2637342	hsa-miR-1184	CLIP-seq
MIRT2637343	hsa-miR-1205	CLIP-seq
MIRT2637344	hsa-miR-15a	CLIP-seq
MIRT2637345	hsa-miR-15b	CLIP-seq
MIRT2637346	hsa-miR-16	CLIP-seq
MIRT2637347	hsa-miR-195	CLIP-seq
MIRT2637348	hsa-miR-22	CLIP-seq
MIRT2637349	hsa-miR-29a	CLIP-seq
MIRT2637350	hsa-miR-29b	CLIP-seq
MIRT2637351	hsa-miR-29c	CLIP-seq
MIRT2637352	hsa-miR-3064-3p	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2637353	hsa-miR-3122	CLIP-seq
MIRT2637354	hsa-miR-3146	CLIP-seq
MIRT2637355	hsa-miR-3153	CLIP-seq
MIRT2637356	hsa-miR-3158-3p	CLIP-seq
MIRT2637357	hsa-miR-3158-5p	CLIP-seq
MIRT2637358	hsa-miR-3189-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT2637359	hsa-miR-320a	CLIP-seq
MIRT2637360	hsa-miR-320b	CLIP-seq
MIRT2637361	hsa-miR-320c	CLIP-seq
MIRT2637362	hsa-miR-320d	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT2637363	hsa-miR-3909	CLIP-seq
MIRT2637364	hsa-miR-3913-5p	CLIP-seq
MIRT2637365	hsa-miR-424	CLIP-seq
MIRT2637366	hsa-miR-4429	CLIP-seq
MIRT2637367	hsa-miR-4502	CLIP-seq
MIRT2637368	hsa-miR-450b-3p	CLIP-seq
MIRT2637371	hsa-miR-4668-5p	CLIP-seq
MIRT2637372	hsa-miR-4687-3p	CLIP-seq
MIRT2637373	hsa-miR-4721	CLIP-seq
MIRT2637374	hsa-miR-4724-5p	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637377	hsa-miR-4761-5p	CLIP-seq
MIRT2637378	hsa-miR-497	CLIP-seq
MIRT2637379	hsa-miR-544	CLIP-seq
MIRT2637380	hsa-miR-601	CLIP-seq
MIRT2637381	hsa-miR-634	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2637382	hsa-miR-647	CLIP-seq
MIRT2637383	hsa-miR-767-5p	CLIP-seq
MIRT2637384	hsa-miR-769-3p	CLIP-seq
MIRT2637385	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000932	Component	P-body	IDA	24862572
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003779	Function	Actin binding	IDA	12408964
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	12163176, 17462627, 18396275, 22632968, 28716842, 31413325, 33058875, 33393904
GO:0005521	Function	Lamin binding	IPI	11801724
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	11792814
GO:0005635	Component	Nuclear envelope	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA	24862572
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	11792814
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	12808039
GO:0005794	Component	Golgi apparatus	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006997	Process	Nucleus organization	NAS	11792814
GO:0007030	Process	Golgi organization	IDA	12808039
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	IDA	11792814
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	24862572
GO:0030017	Component	Sarcomere	IDA	12408964
GO:0030017	Component	Sarcomere	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IDA	18396275
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IEA
GO:0042692	Process	Muscle cell differentiation	IDA	11792814
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	12163176
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045211	Component	Postsynaptic membrane	IDA	10878022
GO:0051015	Function	Actin filament binding	ISS
GO:0090292	Process	Nuclear matrix anchoring at nuclear membrane	IDA	11801724
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IDA	18396275
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IEA

Other IDs

• MIM: 608441
• HGNC: 17089
• e!Ensembl: ENSG00000131018

Protein

• UniProt ID: Q8NF91
• Protein name: Nesprin-1 (Enaptin) (KASH domain-containing protein 1) (KASH1) (Myocyte nuclear envelope protein 1) (Myne-1) (Nuclear envelope spectrin repeat protein 1) (Synaptic nuclear envelope protein 1) (Syne-1)
• Protein function: Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved
• PDB: 4DXR, 6R15, 6XF2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	27 → 135	Calponin homology (CH) domain	Domain
  PF00307	CH	178 → 284	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	3174 → 3277	Spectrin repeat	Domain
  PF00435	Spectrin	3816 → 3919	Spectrin repeat	Domain
  PF00435	Spectrin	5738 → 5835	Spectrin repeat	Domain
  PF00435	Spectrin	7022 → 7126	Spectrin repeat	Domain
  PF00435	Spectrin	7136 → 7233	Spectrin repeat	Domain
  PF00435	Spectrin	7352 → 7453	Spectrin repeat	Domain
  PF00435	Spectrin	7780 → 7882	Spectrin repeat	Domain
  PF00435	Spectrin	7885 → 7996	Spectrin repeat	Domain
  PF00435	Spectrin	8109 → 8211	Spectrin repeat	Domain
  PF00435	Spectrin	8440 → 8547	Spectrin repeat	Domain
  PF10541	KASH	8740 → 8797	Nuclear envelope localisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isofor
• Sequence:

  MATSRGASRCPRDIANVMQRLQDEQEIVQKRTFTKWINSHLAKRKPPMVVDDLFEDMKDG
  VKLLALLEVLSGQKLPCEQGRRMKRIHAVANIGTALKFLEGRKIKLVNINSTDIADGRPS
  IVLGLMWTIILYFQIEELTSNLPQLQSLSSSASSVDSIVSSETPSPPSKRKVTTKIQGNA
  KKALLKWVQYTAGKQTGIEVKDFGKSWRSGVAFHSVIHAIRPELVDLETVKGRSNRENLE
  DAFTIAETELGIPRLLDPEDVDVDKPDEKSIMTYVAQFLKHYPDIHNASTDGQEDDEILP
  GFPSFANSVQNFKREDRVIFKEMKVWIEQFERDLTRAQMVESNLQDKYQSFKHFRVQYEM
  KRKQIEHLIQPLHRDGKLSLDQALVKQSWDRVTSRLFDWHIQLDKSLPAPLGTIGAWLYR
  AEVALREEITVQQVHEETANTIQRKLEQHKDLLQNTDAHKRAFHEIYRTRSVNGIPVPPD
  QLEDMAERFHFVSSTSELHLMKMEFLELKYRLLSLLVLAESKLKSWIIKYGRRESVEQLL
  QNYVSFIENSKFFEQYEVTYQILKQTAEMYVKADGSVEEAENVMKFMNETTAQWRNLSVE
  VRSVRSMLEEVISNWDRYGNTVASLQAWLEDAEKMLNQSENAKKDFFRNLPHWIQQHTAM
  NDAGNFLIETCDEMVSRDLKQQLLLLNGRWRELFMEVKQYAQADEMDRMKKEYTDCVVTL
  SAFATEAHKKLSEPLEVSFMNVKLLIQDLEDIEQRVPVMDAQYKIITKTAHLITKESPQE
  EGKEMFATMSKLKEQLTKVKECYSPLLYESQQLLIPLEELEKQMTSFYDSLGKINEIITV
  LEREAQSSALFKQKHQELLACQENCKKTLTLIEKGSQSVQKFVTLSNVLKHFDQTRLQRQ
  IADIHVAFQSMVKKTGDWKKHVETNSRLMKKFEESRAELEKVLRIAQEGLEEKGDPEELL
  RRHTEFFSQLDQRVLNAFLKACDELTDILPEQEQQGLQEAVRKLHKQWKDLQGEAPYHLL
  HLKIDVEKNRFLASVEECRTELDRETKLMPQEGSEKIIKEHRVFFSDKGPHHLCEKRLQL
  IEELCVKLPVRDPVRDTPGTCHVTLKELRAAIDSTYRKLMEDPDKWKDYTSRFSEFSSWI
  STNETQLKGIKGEAIDTANHGEVKRAVEEIRNGVTKRGETLSWLKSRLKVLTEVSSENEA
  QKQGDELAKLSSSFKALVTLLSEVEKMLSNFGDCVQYKEIVKNSLEELISGSKEVQEQAE
  KILDTENLFEAQQLLLHHQQKTKRISAKKRDVQQQIAQAQQGEGGLPDRGHEELRKLEST
  LDGLERSRERQERRIQVTLRKWERFETNKETVVRYLFQTGSSHERFLSFSSLESLSSELE
  QTKEFSKRTESIAVQAENLVKEASEIPLGPQNKQLLQQQAKSIKEQVKKLEDTLEEDIKT
  MEMVKTKWDHFGSNFETLSVWITEKEKELNALETSSSAMDMQISQIKVTIQEIESKLSSI
  VGLEEEAQSFAQFVTTGESARIKAKLTQIRRYGEELREHAQCLEGTILGHLSQQQKFEEN
  LRKIQQSVSEFEDKLAVPIKICSSATETYKVLQEHMDLCQALESLSSAITAFSASARKVV
  NRDSCVQEAAALQQQYEDILRRAKERQTALENLLAHWQRLEKELSSFLTWLERGEAKASS
  PEMDISADRVKVEGELQLIQALQNEVVSQASFYSKLLQLKESLFSVASKDDVKMMKLHLE
  QLDERWRDLPQIINKRINFLQSVVAEHQQFDELLLSFSVWIKLFLSELQTTSEISIMDHQ
  VALTRHKDHAAEVESKKGELQSLQGHLAKLGSLGRAEDLHLLQGKAEDCFQLFEEASQVV
  ERRQLALSHLAEFLQSHASLSGILRQLRQTVEATNSMNKNESDLIEKDLNDALQNAKALE
  SAAVSLDGILSKAQYHLKIGSSEQRTSCRATADQLCGEVERIQNLLGTKQSEADALAVLK
  KAFQDQKEELLKSIEDIEERTDKERLKEPTRQALQQRLRVFNQLEDELNSHEHELCWLKD
  KAKQIAQKDVAFAPEVDREINRLEVTWDDTKRLIHENQGQCCGLIDLMREYQNLKSAVSK
  VLENASSVIVTRTTIKDQEDLKWAFSKHETAKNKMNYKQKDLDNFTSKGKHLLSELKKIH
  SSDFSLVKTDMESTVDKWLDVSEKLEENMDRLRVSLSIWDDVLSTRDEIEGWSNNCVPQM
  AENISNLDNHLRAEELLKEFESEVKNKALRLEELHSKVNDLKELTKNLETPPDLQFIEAD
  LMQKLEHAKEITEVAKGTLKDFTAQSTQVEKFINDITTWFTKVEESLMNCAQNETCEALK
  KVKDIQKELQSQQSNISSTQENLNSLCRKYHSAELESLGRAMTGLIKKHEAVSQLCSKTQ
  ASLQESLEKHFSESMQEFQEWFLGAKAAAKESSDRTGDSKVLEAKLHDLQNILDSVSDGQ
  SKLDAVTQEGQTLYAHLSKQIVSSIQEQITKANEEFQAFLKQCLKDKQALQDCASELGSF
  EDQHRKLNLWIHEMEERFNTENLGESKQHIPEKKNEVHKVEMFLGELLAARESLDKLSQR
  GQLLSEEGHGAGQEGRLCSQLLTSHQNLLRMTKEKLRSCQVALQEHEALEEALQSMWFWV
  KAIQDRLACAESTLGSKDTLEKRLSQIQDILLMKGEGEVKLNMAIGKGEQALRSSNKEGQ
  RVIQTQLETLKEVWADIMSSSVHAQSTLESVISQWNDYVERKNQLEQWMESVDQKIEHPL
  QPQPGLKEKFVLLDHLQSILSEAEDHTRALHRLIAKSRELYEKTEDESFKDTAQEELKTQ
  FNDIMTVAKEKMRKVEEIVKDHLMYLDAVHEFTDWLHSAKEELHRWSDMSGDSSATQKKL
  SKIKELIDSREIGASRLSRVESLAPEVKQNTTASGCELMHTEMQALRADWKQWEDSVFQT
  QSCLENLVSQMALSEQEFSGQVAQLEQALEQFSALLKTWAQQLTLLEGKNTDEEIVECWH
  KGQEILDALQKAEPRTEDLKSQLNELCRFSRDLSTYSGKVSGLIKEYNCLCLQASKGCQN
  KEQILQQRFRKAFRDFQQWLVNAKITTAKCFDIPQNISEVSTSLQKIQEFLSESENGQHK
  LNMMLSKGELLSTLLTKEKAKGIQAKVTAAKEDWKNFHSNLHQKESALENLKIQMKDFEV
  SAEPIQDWLSKTEKMVHESSNRLYDLPAKRREQQKLQSVLEEIHCYEPQLNRLKEKAQQL
  WEGQAASKSFRHRVSQLSSQYLALSNLTKEKVSRLDRIVAEHNQFSLGIKELQDWMTDAI
  HMLDSYCHPTSDKSVLDSRTLKLEALLSVKQEKEIQMKMIVTRGESVLQNTSPEGIPTIQ
  QQLQSVKDMWASLLSAGIRCKSQLEGALSKWTSYQDGVRQFSGWMDSMEANLNESERQHA
  ELRDKTTMLGKAKLLNEEVLSYSSLLETIEVKGAGMTEHYVTQLELQDLQERYRAIQERA
  KEAVTKSEKLVRLHQEYQRDLKAFEVWLGQEQEKLDQYSVLEGDAHTHETTLRDLQELQV
  HCAEGQALLNSVLHTREDVIPSGIPQAEDRALESLRQDWQAYQHRLSETRTQFNNVVNKL
  RLMEQKFQQVDEWLKTAEEKVSPRTRRQSNRATKEIQLHQMKKWHEEVTAYRDEVEEVGA
  RAQEILDESHVNSRMGCQATQLTSRYQALLLQVLEQIKFLEEEIQSLEESESSLSSYSDW
  YGSTHKNFKNVATKIDKVDTVMMGKKLKTLEVLLKDMEKGHSLLKSAREKGERAVKYLEE
  GEAERLRKEIHDHMEQLKELTSTVRKEHMTLEKGLHLAKEFSDKCKALTQWIAEYQEILH
  VPEEPKMELYEKKAQLSKYKSLQQTVLSHEPSVKSVREKGEALLELVQDVTLKDKIDQLQ
  SDYQDLCSIGKEHVFSLEAKVKDHEDYNSELQEVEKWLLQMSGRLVAPDLLETSSLETIT
  QQLAHHKAMMEEIAGFEDRLNNLQMKGDTLIGQCADHLQAKLKQNVHAHLQGTKDSYSAI
  CSTAQRMYQSLEHELQKHVSRQDTLQQCQAWLSAVQPDLEPSPQPPLSRAEAIKQVKHFR
  ALQEQARTYLDLLCSMCDLSNASVKTTAKDIQQTEQTIEQKLVQAQNLTQGWEEIKHLKS
  ELWIYLQDADQQLQNMKRRHSELELNIAQNMVSQVKDFVKKLQSKQASVNTIIEKVNKLT
  KKEESPEHKEINHLNDQWLDLCRQSNNLCLQREEDLQRTRDYHDCMNVVEVFLEKFTTEW
  DNLARSDAESTAVHLEALKKLALALQERKYAIEDLKDQKQKMIEHLNLDDKELVKEQTSH
  LEQRWFQLEDLIKRKIQVSVTNLEELNVVQSRFQELMEWAEEQQPNIAEALKQSPPPDMA
  QNLLMDHLAICSELEAKQMLLKSLIKDADRVMADLGLNERQVIQKALSDAQSHVNCLSDL
  VGQRRKYLNKALSEKTQFLMAVFQATSQIQQHERKIMFREHICLLPDDVSKQVKTCKSAQ
  ASLKTYQNEVTGLWAQGRELMKEVTEQEKSEVLGKLQELQSVYDSVLQKCSHRLQELEKN
  LVSRKHFKEDFDKACHWLKQADIVTFPEINLMNESSELHTQLAKYQNILEQSPEYENLLL
  TLQRTGQTILPSLNEVDHSYLSEKLNALPRQFNVIVALAKDKFYKVQEAILARKEYASLI
  ELTTQSLSELEAQFLRMSKVPTDLAVEEALSLQDGCRAILDEVAGLGEAVDELNQKKEGF
  RSTGQPWQPDKMLHLVTLYHRLKRQTEQRVSLLEDTTSAYQEHEKMCQQLERQLKSVKEE
  QSKVNEETLPAEEKLKMYHSLAGSLQDSGIVLKRVTIHLEDLAPHLDPLAYEKARHQIQS
  WQGELKLLTSAIGETVTECESRMVQSIDFQTEMSRSLDWLRRVKAELSGPVYLDLNLQDI
  QEEIRKIQIHQEEVQSSLRIMNALSHKEKEKFTKAKELISADLEHSLAELSELDGDIQEA
  LRTRQATLTEIYSQCQRYYQVFQAANDWLEDAQELLQLAGNGLDVESAEENLKSHMEFFS
  TEDQFHSNLEELHSLVATLDPLIKPTGKEDLEQKVASLELRSQRMSRDSGAQVDLLQRCT
  AQWHDYQKAREEVIELMNDTEKKLSEFSLLKTSSSHEAEEKLSEHKALVSVVNSFHEKIV
  ALEEKASQLEKTGNDASKATLSRSMTTVWQRWTRLRAVAQDQEKILEDAVDEWTGFNNKV
  KKATEMIDQLQDKLPGSSAEKASKAELLTLLEYHDTFVLELEQQQSALGMLRQQTLSMLQ
  DGAAPTPGEEPPLMQEITAMQDRCLNMQEKVKTNGKLVKQELKDREMVETQINSVKCWVQ
  ETKEYLGNPTIEIDAQLEELQILLTEATNHRQNIEKMAEEQKEKYLGLYTILPSELSLQL
  AEVALDLKIRDQIQDKIKEVEQSKATSQELSRQIQKLAKDLTTILTKLKAKTDNVVQAKT
  DQKVLGEELDGCNSKLMELDAAVQKFLEQNGQLGKPLAKKIGKLTELHQQTIRQAENRLS
  KLNQAASHLEEYNEMLELILKWIEKAKVLAHGTIAWNSASQLREQYILHQTLLEESKEID
  SELEAMTEKLQYLTSVYCTEKMSQQVAELGRETEELRQMIKIRLQNLQDAAKDMKKFEAE
  LKKLQAALEQAQATLTSPEVGRLSLKEQLSHRQHLLSEMESLKPKVQAVQLCQSALRIPE
  DVVASLPLCHAALRLQEEASRLQHTAIQQCNIMQEAVVQYEQYEQEMKHLQQLIEGAHRE
  IEDKPVATSNIQELQAQISRHEELAQKIKGYQEQIASLNSKCKMLTMKAKHATMLLTVTE
  VEGLAEGTEDLDGELLPTPSAHPSVVMMTAGRCHTLLSPVTEESGEEGTNSEISSPPACR
  SPSPVANTDASVNQDIAYYQALSAERLQTDAAKIHPSTSASQEFYEPGLEPSATAKLGDL
  QRSWETLKNVISEKQRTLYEALERQQKYQDSLQSISTKMEAIELKLSESPEPGRSPESQM
  AEHQALMDEILMLQDEINELQSSLAEELVSESCEADPAEQLALQSTLTVLAERMSTIRMK
  ASGKRQLLEEKLNDQLEEQRQEQALQRYRCEADELDSWLLSTKATLDTALSPPKEPMDME
  AQLMDCQNMLVEIEQKVVALSELSVHNENLLLEGKAHTKDEAEQLAGKLRRLKGSLLELQ
  RALHDKQLNMQGTAQEKEESDVDLTATQSPGVQEWLAQARTTWTQQRQSSLQQQKELEQE
  LAEQKSLLRSVASRGEEILIQHSAAETSGDAGEKPDVLSQELGMEGEKSSAEDQMRMKWE
  SLHQEFSTKQKLLQNVLEQEQEQVLYSRPNRLLSGVPLYKGDVPTQDKSAVTSLLDGLNQ
  AFEEVSSQSGGAKRQSIHLEQKLYDGVSATSTWLDDVEERLFVATALLPEETETCLFNQE
  ILAKDIKEMSEEMDKNKNLFSQAFPENGDNRDVIEDTLGCLLGRLSLLDSVVNQRCHQMK
  ERLQQILNFQNDLKVLFTSLADNKYIILQKLANVFEQPVAEQIEAIQQAEDGLKEFDAGI
  IELKRRGDKLQVEQPSMQELSKLQDMYDELMMIIGSRRSGLNQNLTLKSQYERALQDLAD
  LLETGQEKMAGDQKIIVSSKEEIQQLLDKHKEYFQGLESHMILTETLFRKIISFAVQKET
  QFHTELMAQASAVLKRAHKRGVELEYILETWSHLDEDQQELSRQLEVVESSIPSVGLVEE
  NEDRLIDRITLYQHLKSSLNEYQPKLYQVLDDGKRLLISISCSDLESQLNQLGECWLSNT
  NKMSKELHRLETILKHWTRYQSESADLIHWLQSAKDRLEFWTQQSVTVPQELEMVRDHLN
  AFLEFSKEVDAQSSLKSSVLSTGNQLLRLKKVDTATLRSELSRIDSQWTDLLTNIPAVQE
  KLHQLQMDKLPSRHAISEVMSWISLMENVIQKDEDNIKNSIGYKAIHEYLQKYKGFKIDI
  NCKQLTVDFVNQSVLQISSQDVESKRSDKTDFAEQLGAMNKSWQILQGLVTEKIQLLEGL
  LESWSEYENNVQCLKTWFETQEKRLKQQHRIGDQASVQNALKDCQDLEDLIKAKEKEVEK
  IEQNGLALIQNKKEDVSSIVMSTLRELGQTWANLDHMVGQLKILLKSVLDQWSSHKVAFD
  KINSYLMEARYSLSRFRLLTGSLEAVQVQVDNLQNLQDDLEKQERSLQKFGSITNQLLKE
  CHPPVTETLTNTLKEVNMRWNNLLEEIAEQLQSSKALLQLWQRYKDYSKQCASTVQQQED
  RTNELLKAATNKDIADDEVATWIQDCNDLLKGLGTVKDSLFFLHELGEQLKQQVDASAAS
  AIQSDQLSLSQHLCALEQALCKQQTSLQAGVLDYETFAKSLEALEAWIVEAEEILQGQDP
  SHSSDLSTIQERMEELKGQMLKFSSMAPDLDRLNELGYRLPLNDKEIKRMQNLNRHWSLI
  SSQTTERFSKLQSFLLQHQTFLEKCETWMEFLVQTEQKLAVEISGNYQHLLEQQRAHELF
  QAEMFSRQQILHSIIIDGQRLLEQGQVDDRDEFNLKLTLLSNQWQGVIRRAQQRRGIIDS
  QIRQWQRYREMAEKLRKWLVEVSYLPMSGLGSVPIPLQQARTLFDEVQFKEKVFLRQQGS
  YILTVEAGKQLLLSADSGAEAALQAELAEIQEKWKSASMRLEEQKKKLAFLLKDWEKCEK
  GIADSLEKLRTFKKKLSQSLPDHHEELHAEQMRCKELENAVGSWTDDLTQLSLLKDTLSA
  YISADDISILNERVELLQRQWEELCHQLSLRRQQIGERLNEWAVFSEKNKELCEWLTQME
  SKVSQNGDILIEEMIEKLKKDYQEEIAIAQENKIQLQQMGERLAKASHESKASEIEYKLG
  KVNDRWQHLLDLIAARVKKLKETLVAVQQLDKNMSSLRTWLAHIESELAKPIVYDSCNSE
  EIQRKLNEQQELQRDIEKHSTGVASVLNLCEVLLHDCDACATDAECDSIQQATRNLDRRW
  RNICAMSMERRLKIEETWRLWQKFLDDYSRFEDWLKSSERTAAFPSSSGVIYTVAKEELK
  KFEAFQRQVHECLTQLELINKQYRRLARENRTDSACSLKQMVHEGNQRWDNLQKRVTSIL
  RRLKHFIGQREEFETARDSILVWLTEMDLQLTNIEHFSECDVQAKIKQLKAFQQEISLNH
  NKIEQIIAQGEQLIEKSEPLDAAIIEEELDELRRYCQEVFGRVERYHKKLIRLPLPDDEH
  DLSDRELELEDSAALSDLHWHDRSADSLLSPQPSSNLSLSLAQPLRSERSGRDTPASVDS
  IPLEWDHDYDLSRDLESAMSRALPSEDEEGQDDKDFYLRGAVGLSGDHSALESQIRQLGK
  ALDDSRFQIQQTENIIRSKTPTGPELDTSYKGYMKLLGECSSSIDSVKRLEHKLKEEEES
  LPGFVNLHSTETQTAGVIDRWELLQAQALSKELRMKQNLQKWQQFNSDLNSIWAWLGDTE
  EELEQLQRLELSTDIQTIELQIKKLKELQKAVDHRKAIILSINLCSPEFTQADSKESRDL
  QDRLSQMNGRWDRVCSLLEEWRGLLQDALMQCQGFHEMSHGLLLMLENIDRRKNEIVPID
  SNLDAEILQDHHKQLMQIKHELLESQLRVASLQDMSCQLLVNAEGTDCLEAKEKVHVIGN
  RLKLLLKEVSRHIKELEKLLDVSSSQQDLSSWSSADELDTSGSVSPTSGRSTPNRQKTPR
  GKCSLSQPGPSVSSPHSRSTKGGSDSSLSEPGPGRSGRGFLFRVLRAALPLQLLLLLLIG
  LACLVPMSEEDYSCALSNNFARSFHPMLRYTNGPPPL

• Sequence length: 8797

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal central motor function	Likely pathogenic; Pathogenic	rs2153456779, rs763325410	RCV001814349 RCV001814183
Abnormality of the musculature	Likely pathogenic	rs1193193335	RCV001814324
Arthrogryposis multiplex congenita 3, myogenic type	Pathogenic; Likely pathogenic	rs772587027, rs1562922141, rs368468256, rs2551032977, rs606231134, rs119103243, rs1586285494, rs1167251950, rs760715690, rs1368275632, rs145819043, rs760678661, rs1412791793, rs746177326, rs759460806	RCV006257336 RCV001813905 RCV002285129 RCV002285130 RCV005031382 RCV005041971 RCV000002425 RCV003991049 RCV000787308 RCV005412538 RCV003340971 RCV005358082 RCV005863221 RCV000787309 RCV005036235
Autosomal recessive ataxia, Beauce type	Pathogenic; Likely pathogenic	rs1563088209, rs2154133792, rs2154147676, rs2154157186, rs983431074, rs757719808, rs2154331501, rs1332414511, rs2153783491, rs2154019221, rs2154261629, rs762743107, rs138032057, rs2153537904, rs772587027, rs1417491327, rs2098158268, rs2154182611, rs2154254291, rs761432453, rs1193193335, rs1012514808, rs1213042460, rs761433022, rs771760718, rs2153836962, rs2096893099, rs1473936270, rs2154194664, rs1372915935, rs544985182, rs2154000325, rs2153970781, rs2154115529, rs1258745040, rs2153025020, rs2153809530, rs2154353746, rs2098527248, rs1270730854, rs2153409815, rs2154151091, rs777656140, rs2154170060, rs2153732048, rs988770583, rs2153619687, rs780634258, rs766129413, rs1291249200, rs2153709458, rs781655232, rs2153937126, rs750266004, rs2153903647, rs2153725036, rs606231292, rs2090447154, rs758379604, rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs2484737456, rs2499520024, rs769419654, rs2485325706, rs1478908449, rs794727577, rs1424284351, rs794727986, rs754518742, rs2488638913, rs1563130387, rs778979964, rs778686915, rs1167251950, rs2551881997, rs797045109, rs2485626958, rs2551694835, rs2552072090, rs797046025, rs797046024, rs797046026, rs749543411, rs2499274206, rs2552092384, rs2551505402, rs2490994680, rs2505832456, rs780451185, rs780991031, rs863224929, rs1229627235, rs2549722965, rs2550008477, rs2551617809, rs1422724926, rs2552083259, rs2551882028, rs2550229446, rs2549805387, rs2550010488, rs2551725763, rs1320406415, rs1399453825, rs886042421, rs2487562970, rs1368275632, rs752405799, rs2551882518, rs1562775040, rs1563075936, rs749419811, rs1305851892, rs2096803850, rs2500815673, rs1384323646, rs2551848818, rs2551698321, rs2501656603, rs2551324651, rs2485345197, rs930062661, rs760678661, rs2485294023, rs1057520134, rs910956017, rs1064796579, rs1554553667, rs1554573328, rs1554676394, rs1554753528, rs1203553546, rs1554829141, rs763325410, rs1554721227, rs375077588, rs1412791793, rs1554226673, rs1554768245, rs755531859, rs1385280819, rs1554247806, rs746328978, rs1564367104, rs750544827, rs768958602, rs1164612098, rs1563391747, rs1174316105, rs749432519, rs766499430, rs1563941569, rs1564136499, rs1269308421, rs1586296730, rs757744079, rs1466752822, rs1588855714, rs1590998146, rs1592490234, rs759460806, rs752224921, rs1590463470, rs771955377, rs1300885934, rs2098713648, rs549779256, rs2098101022, rs866163858, rs2096651533, rs2097516516, rs967105970, rs946657984, rs2096322248, rs1064794555, rs2083582255, rs781354327, rs775516009, rs778445117, rs2098603169	RCV001647180 RCV001647205 RCV001647181 RCV001647182 RCV001647204 RCV001647206 RCV001863182 RCV002284022 RCV001376188 RCV001379983 RCV001379981 RCV001376825 RCV001380022 RCV001381452 RCV001385856 RCV001383637 RCV001384162 RCV001386901 RCV001388829 RCV001528126 RCV001542657 RCV001542659 RCV001542660 RCV004770171 RCV005409826 RCV002539656 RCV002541166 RCV005860258 RCV002544274 RCV005213593 RCV003772157 RCV001959629 RCV001880547 RCV001924607 RCV001945112 RCV002018010 RCV001917653 RCV001970091 RCV001955680 RCV001985470 RCV002037066 RCV002014655 RCV002035307 RCV002000142 RCV001994488 RCV001962904 RCV001941907 RCV001941988 RCV001939575 RCV001939339 RCV001953450 RCV001880698 RCV002014118 RCV001956393 RCV002019445 RCV001980675 RCV000144953 RCV002272618 RCV002272679 RCV000002416 RCV000002417 RCV000002419 RCV000002420 RCV000002421 RCV002468800 RCV002468801 RCV002574704 RCV003037198 RCV003117949 RCV001852201 RCV002572684 RCV002271991 RCV002604424 RCV002658377 RCV000207339 RCV002705482 RCV002766430 RCV002780651 RCV002807180 RCV000190628 RCV002819781 RCV002776583 RCV002815068 RCV000194323 RCV000193929 RCV000194453 RCV002875865 RCV002852937 RCV002867235 RCV002966466 RCV002971243 RCV003000101 RCV000995657 RCV001090172 RCV000196238 RCV002996386 RCV003030804 RCV003008390 RCV002991776 RCV003006259 RCV003053705 RCV003030385 RCV003033181 RCV003062119 RCV003063952 RCV003148425 RCV003234805 RCV003159549 RCV005222865 RCV003234867 RCV003316917 RCV005227987 RCV003333346 RCV003338192 RCV003778221 RCV003779200 RCV003798347 RCV003792347 RCV003806119 RCV003804124 RCV003799354 RCV003794838 RCV003794965 RCV003797339 RCV003807204 RCV003809514 RCV003801666 RCV003985000 RCV003990303 RCV001207733 RCV000812312 RCV002526954 RCV000502725 RCV000499650 RCV000501178 RCV000499539 RCV000501654 RCV000503650 RCV000787307 RCV000556204 RCV001215868 RCV002532639 RCV000623194 RCV000625981 RCV000626168 RCV002534257 RCV000664234 RCV000692762 RCV000688252 RCV003768112 RCV003992377 RCV005209522 RCV001855798 RCV001390591 RCV005213398 RCV001216663 RCV000785038 RCV000785036 RCV000787306 RCV000805594 RCV000820027 RCV000805339 RCV000805626 RCV000816324 RCV000811482 RCV000002415 RCV002225123 RCV000995658 RCV000995884 RCV001046075 RCV001069953 RCV004768886 RCV001174535 RCV001195933 RCV001197058 RCV001198621 RCV001222138 RCV001213886 RCV001206224 RCV001261162 RCV001261163 RCV001261523 RCV003770400 RCV005225352 RCV001289554 RCV001289555
Autosomal recessive cerebellar ataxia	Likely pathogenic; Pathogenic	rs759460806	RCV000826129
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs780991031	RCV001090172
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely pathogenic; Pathogenic	rs1164612098	RCV005897245
Cleft lip/palate	Likely pathogenic; Pathogenic	rs746177326	RCV005626209
Dilated cardiomyopathy 1A	Likely pathogenic	rs769963625	RCV002259537
Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Pathogenic; Likely pathogenic	rs2154331501, rs2154019221, rs2154261629, rs762743107, rs138032057, rs2153537904, rs772587027, rs1417491327, rs2098158268, rs2154182611, rs2154254291, rs771760718, rs2153836962, rs2096893099, rs2154194664, rs1372915935, rs544985182, rs2154000325, rs2153970781, rs2154115529, rs1258745040, rs2153025020, rs2153809530, rs2154353746, rs2098527248, rs1270730854, rs2153409815, rs2154151091, rs777656140, rs2154170060, rs2153732048, rs988770583, rs2153619687, rs780634258, rs766129413, rs1291249200, rs2153709458, rs781655232, rs2153937126, rs750266004, rs2153903647, rs2153725036, rs762660111, rs606231134, rs119103243, rs769419654, rs2485325706, rs1478908449, rs794727577, rs1424284351, rs794727986, rs754518742, rs2488638913, rs778979964, rs778686915, rs1167251950, rs2551881997, rs2485626958, rs2551694835, rs2552072090, rs797046025, rs749543411, rs2499274206, rs2552092384, rs2551505402, rs2490994680, rs2505832456, rs780451185, rs1229627235, rs2549722965, rs2550008477, rs2551617809, rs1422724926, rs2552083259, rs2551882028, rs2550229446, rs2549805387, rs2550010488, rs886042421, rs1368275632, rs752405799, rs2098644529, rs1563075936, rs2502507900, rs749419811, rs1305851892, rs2096803850, rs2500815673, rs1384323646, rs2551848818, rs2551698321, rs2501656603, rs2551324651, rs2485345197, rs930062661, rs1057520134, rs910956017, rs1064796579, rs763325410, rs1554721227, rs375077588, rs1412791793, rs1554451078, rs1385280819, rs746328978, rs1564367104, rs750544827, rs1164612098, rs1563391747, rs1174316105, rs749432519, rs766499430, rs1586909309, rs1586296730, rs757744079, rs1466752822, rs1588855714, rs1590998146, rs1592490234, rs759460806, rs752224921, rs1300885934, rs2098713648, rs549779256, rs2086610889, rs2097516516, rs967105970, rs946657984, rs781354327, rs775516009, rs778445117	RCV003323858 RCV001379983 RCV001379981 RCV001376825 RCV001380022 RCV001381452 RCV001385856 RCV001383637 RCV001384162 RCV001386901 RCV001388829 RCV003317511 RCV002539656 RCV002541166 RCV002544274 RCV005213593 RCV003772157 RCV001959629 RCV001880547 RCV001924607 RCV001945112 RCV002018010 RCV001917653 RCV001970091 RCV001955680 RCV001985470 RCV002037066 RCV002014655 RCV002035307 RCV002000142 RCV001994488 RCV001962904 RCV001941907 RCV001941988 RCV001939575 RCV001939339 RCV001953450 RCV001880698 RCV002014118 RCV001956393 RCV002019445 RCV001980675 RCV002293384 RCV000763141 RCV005041971 RCV002574704 RCV003037198 RCV003117949 RCV001852201 RCV002572684 RCV005213222 RCV002604424 RCV002658377 RCV002705482 RCV002766430 RCV002780651 RCV002807180 RCV002819781 RCV002776583 RCV002815068 RCV003765237 RCV002875865 RCV002852937 RCV002867235 RCV002966466 RCV002971243 RCV003000101 RCV001381375 RCV002996386 RCV003030804 RCV003008390 RCV002991776 RCV003006259 RCV003053705 RCV003030385 RCV003033181 RCV003062119 RCV003063952 RCV005222865 RCV005412538 RCV003324251 RCV003337737 RCV003778221 RCV003447803 RCV003779200 RCV003798347 RCV003792347 RCV003806119 RCV003804124 RCV003799354 RCV003794838 RCV003794965 RCV003797339 RCV003807204 RCV003809514 RCV003801666 RCV001207733 RCV000812312 RCV002526954 RCV005222991 RCV001388050 RCV001215868 RCV002532639 RCV000626156 RCV002534257 RCV000692762 RCV000688252 RCV003768112 RCV005209522 RCV001855798 RCV001390591 RCV005213398 RCV001216663 RCV000790956 RCV000805594 RCV000820027 RCV000805339 RCV000805626 RCV000816324 RCV000811482 RCV001383383 RCV002549102 RCV001046075 RCV001069953 RCV001169970 RCV001193565 RCV001222138 RCV001213886 RCV001206224 RCV003770400 RCV005225352 RCV001871729
Juvenile amyotrophic lateral sclerosis	Pathogenic	rs775935265, rs2076486420	RCV001095483 RCV001095482
See cases	Likely pathogenic; Pathogenic	rs794727577	RCV002252021
Spastic ataxia	Pathogenic	rs2154331501	RCV001647253
SYNE1-related disorder	Pathogenic; Likely pathogenic	rs1563088209, rs2154331501, rs544985182, rs758379604, rs606231134, rs794727986, rs886042421, rs1563075936, rs2551776410, rs2551545295, rs1435803196, rs2497999874, rs570916267	RCV004727149 RCV004531115 RCV004536309 RCV004534027 RCV004734495 RCV004537518 RCV003993913 RCV004527831 RCV004534268 RCV004528707 RCV003404803 RCV003988329 RCV000779497
Third degree atrioventricular block	Likely pathogenic	rs2488055697	RCV002305646

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs863224928, rs863224927, rs1591548790	-
Abnormal brain morphology	Benign; Likely benign; Conflicting classifications of pathogenicity	rs150304757, rs1060499769	RCV000454154 RCV000454183
Acute myeloid leukemia	Likely benign; Benign; Conflicting classifications of pathogenicity	rs191229374, rs148476337, rs17082709, rs138787771, rs41292868, rs187773880, rs148008634, rs56207224	RCV005917512 RCV005919722 RCV005889315 RCV005889750 RCV005894267 RCV005895573 RCV005895638 RCV005904103
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs138787771	RCV005889752
Arthrogryposis syndrome	Conflicting classifications of pathogenicity	rs117480635	RCV005625384
Autosomal recessive myogenic arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity; Uncertain significance	rs369292604, rs142593312	RCV000785033 RCV003483766
Cardiomyopathy	Conflicting classifications of pathogenicity	rs386707192	RCV000201457
Cervical cancer	Benign; Likely benign	rs187773880, rs550804556, rs112157624, rs9479269	RCV005895575 RCV005899054 RCV005904064 RCV005903940
Charcot-Marie-Tooth disease type 1E	Uncertain significance	rs2153972296	RCV005863494
Cholangiocarcinoma	Benign	rs17082358, rs41292868, rs17082389, rs56207224, rs9479269	RCV005925227 RCV005894270 RCV005894266 RCV005904109 RCV005903942
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	rs138787771, rs148008634, rs141883764, rs755011653	RCV005889753 RCV005895639 RCV005895733 RCV005871364
Colon adenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	rs75694045, rs373438870	RCV005916427 RCV005895741
Colorectal cancer	Benign; Likely benign	rs138787771	RCV005889755
Distal myopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs149606474, rs180727534	RCV005626153 RCV005625267
Emery-Dreifuss muscular dystrophy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs55633181, rs185829704, rs141170182, rs150905950, rs756232172, rs111322292, rs766534980, rs761577958, rs886061205, rs71660056, rs756758310, rs5880967, rs764324594, rs886061186	RCV000394274 RCV000269905 RCV000333711 RCV000306585 RCV000347704 RCV000342396 RCV000307253 RCV000337330 RCV000303111 RCV000369287 RCV000336492 RCV000353471 RCV000379887 RCV000362655 RCV000368782 RCV000372178
EMG: myopathic abnormalities	Uncertain significance	rs1057518825	RCV000415271
Ependymoma	Uncertain significance	rs1554520414	RCV000577855
Familial cancer of breast	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs199933019, rs138787771, rs756092842, rs148008634, rs528364885	RCV005925607 RCV005889749 RCV005932270 RCV005895637 RCV005902944
Familial pancreatic carcinoma	Likely benign; Benign	rs146165860, rs191229374, rs776363510, rs56207224	RCV005916399 RCV005917513 RCV005902052 RCV005904106
Gastric cancer	Likely benign; Benign; Uncertain significance	rs191229374, rs11155844, rs138787771, rs41292868, rs187773880, rs114367594, rs747824937	RCV005917514 RCV005919288 RCV005889757 RCV005894268 RCV005895576 RCV005901160 RCV005898714
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs17082389, rs147947903	RCV005894262 RCV005895543
Hereditary ataxia	Conflicting classifications of pathogenicity	rs117461489, rs760076679	RCV005621901 RCV005622080
Hereditary liability to pressure palsies	Uncertain significance	rs2153972296	RCV005863494
Hereditary spherocytosis type 3	Uncertain significance	rs587777426	RCV005862987
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs119103248, rs141586001, rs138617999, rs147998933, rs148376885, rs145899734, rs199762799, rs373040273, rs201361687, rs201306174, rs375558499, rs545685387, rs180727534	RCV001252121 RCV001252114 RCV001252118 RCV001252117 RCV001252113 RCV001252119 RCV001252120 RCV001252122 RCV001252115 RCV001252112 RCV001252116 RCV005621959 RCV000077791
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs138617999, rs147998933, rs142747430, rs142422990, rs139384691, rs201522015, rs759856569, rs145075161	RCV005621902 RCV005621905 RCV005625498 RCV005625515 RCV005625520 RCV005625521 RCV005626228 RCV005626286
Lung cancer	Likely benign; Benign	rs191229374, rs550804556, rs56207224	RCV005917516 RCV005899058 RCV005904110
Lymphoma	Benign	rs56207224	RCV005904107
Malignant lymphoma, large B-cell, diffuse	Benign	rs17082389	RCV005894264
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	rs148476337, rs138787771, rs187773880, rs550804556, rs201131946, rs9383617	RCV005919723 RCV005889751 RCV005895574 RCV005899053 RCV005899050 RCV005906880
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs377113267	RCV005899967
Melanoma	Benign; Likely benign	rs138787771	RCV005889760
Neurodevelopmental abnormality	Uncertain significance	rs2079430530	RCV001264700
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Benign	rs759460806, rs56207224	RCV005896793 RCV005904104
Ovarian cancer	Likely benign; Benign	rs146165860, rs56207224	RCV005916398 RCV005904105
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs146165860, rs191229374, rs138787771, rs550804556, rs201131946, rs9479269, rs554483231	RCV005916400 RCV005917515 RCV005889758 RCV005899056 RCV005899052 RCV005903941 RCV005912478
Primary dilated cardiomyopathy	Uncertain significance	rs730880219	RCV000157510
Rare genetic intellectual disability	Uncertain significance	rs377446250, rs748142987	RCV001257021 RCV001257022
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs148476337, rs138787771, rs35379711, rs550804556, rs201131946	RCV005919724 RCV005889756 RCV005895542 RCV005899055 RCV005899051
Shoulder girdle muscle weakness	Uncertain significance	rs1057518825	RCV000415271
Skeletal dysplasia	Conflicting classifications of pathogenicity	rs367744351	RCV005626861
Squamous cell carcinoma of the head and neck	Uncertain significance	rs749275993	RCV005912266
Squamous cell lung carcinoma	Uncertain significance	rs758464869	RCV005913579
Thymoma	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs11155844, rs78722002, rs17082709, rs41292868, rs17082389, rs550804556, rs111322292, rs746958913, rs56207224	RCV005919289 RCV005921525 RCV005889316 RCV005894269 RCV005894265 RCV005899057 RCV005869386 RCV005896881 RCV005904108
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	rs9397106, rs138787771, rs149758808, rs1337751426	RCV005889314 RCV005889759 RCV005889950 RCV005927746
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs75694045, rs148476337, rs550804556	RCV005916428 RCV005919725 RCV005899059
Uveal melanoma	Benign; Likely benign	rs138787771, rs17082389	RCV005889754 RCV005894263

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma Mucinous	Associate	20056644
Adenoma	Associate	21154739, 28058013
Adenoma Villous	Associate	21154739
Alcoholic Neuropathy	Associate	27178001
Amyotrophic Lateral Sclerosis	Associate	25681989
Anorexia Nervosa	Associate	20375995
Arrhythmias Cardiac	Associate	33949037
Arthritis Psoriatic	Associate	34344401
Arthrogryposis	Associate	27178001, 27782104, 35595401, 35739559
Arthrogryposis multiplex congenita distal type 1	Associate	27782104
Asthma	Associate	27445529
Ataxia	Associate	27178001, 29915382
Ataxia Telangiectasia Like Disorder	Associate	29915382
Atherosclerosis	Associate	40076866
Autism Spectrum Disorder	Associate	31674007
Autosomal Recessive Cerebellar Ataxia Type 1	Associate	35595401
Basal Ganglia Diseases	Associate	29509064
Bipolar Disorder	Associate	24387768, 30610203, 31236099, 40562893
Breast Neoplasms	Associate	32734521, 34888385
Bundle Branch Block	Associate	33567613
Carcinoma Hepatocellular	Associate	35602894
Carcinoma Ovarian Epithelial	Associate	20056644, 37762518
Carcinoma Renal Cell	Associate	25184692, 35886066, 37480572
Carcinoma Renal Cell	Inhibit	39473430
Cardiomyopathies	Associate	28594148, 35595401
Cardiomyopathy Dilated	Associate	28594148, 33949037
Cardiomyopathy Right Ventricular Dilated	Associate	33567613
Cerebellar Ataxia	Associate	27086870, 27178001, 27782104, 29482223, 34663476, 38136976
Cerebellar Diseases	Associate	35595401
Charcot Marie Tooth Disease	Associate	22555292
Charcot Marie Tooth disease Type 2B	Associate	22555292
Cognition Disorders	Associate	27178001, 35595401
Colorectal Neoplasms	Associate	25538088, 28058013, 33714943
Contracture	Associate	28583108
Conversion Disorder	Associate	34371182
Coronary Artery Disease	Associate	27864399
Coronavirus Infections	Associate	32747502
Creutzfeldt Jakob Syndrome	Associate	29509064
Death Sudden Cardiac	Associate	33949037
Diffuse Lewy Body Disease with Gaze Palsy	Associate	35595401
Dysmenorrhea	Associate	25315199
Exotropia	Associate	39773702
Fanconi Anemia	Associate	31990679
Gait Disorders Neurologic	Associate	29509064
Genetic Diseases Inborn	Associate	35739559
Genital Neoplasms Female	Associate	37762518
Gerstmann Straussler Scheinker Disease	Associate	29509064
Glioblastoma	Associate	21649900
Heart Diseases	Associate	30610203
Immunologic Deficiency Syndromes	Associate	38136976
Inflammation	Associate	37762518
Leukemia	Associate	26308964
Leukemic Infiltration	Associate	37762518
Lung Neoplasms	Associate	19017733
Lymphoma Follicular	Associate	27750045
Lymphoma Mantle Cell	Associate	32584970, 32770099
Major Affective Disorder 2	Associate	28178086
Migraine Disorders	Associate	25315199
Mitochondrial Diseases	Associate	38136976
Muscle Hypotonia	Associate	35739559
Muscle Spasticity	Associate	27178001
Muscular Atrophy	Associate	28583108
Muscular Atrophy Spinal	Associate	27178001
Muscular Dystrophies	Associate	35595401
Muscular Dystrophy Duchenne	Associate	22555292
Muscular Dystrophy Emery Dreifuss	Associate	22555292, 23671687, 28583108
Myocardial Infarction	Associate	40076866
Myotonia Congenita	Associate	32231000
Myotonic Dystrophy	Associate	34371182
Neoplasms	Inhibit	19017733
Neoplasms	Associate	26352260, 35886066, 37762518
Neuromuscular Diseases	Associate	27178001, 27782104, 33567613
Ovarian Neoplasms	Associate	20056644, 37762518
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	27750045
Retinal Dysplasia	Associate	21154739
Schizophrenia	Associate	24387768
Shwachman Diamond Syndrome	Associate	31990679
Spinocerebellar Ataxias	Associate	27178001, 35595401
Spinocerebellar Degenerations	Associate	29509064
Squamous Cell Carcinoma of Head and Neck	Associate	37340028, 37373553
Stomach Neoplasms	Associate	33530176, 34095982
Urinary Bladder Neoplasms	Associate	37247272
Ventricular Fibrillation	Associate	33949037