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	6261
Gene name	Ryanodine receptor 1
Gene symbol	RYR1
Synonyms (NCBI Gene)	CCOCMYO1ACMYO1BCMYP1ACMYP1BKDSMHSMHS1PPP1R137RYDRRYRRYR-1SKRR
Chromosome	19
Chromosome location	19q13.2
Summary	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1801086	G>A,C,T	Drug-response, risk-factor, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs28933396	G>A,T	Drug-response, not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs28933397	C>T	Drug-response, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs35180584	C>G,T	Likely-benign, risk-factor, benign-likely-benign, benign	Non coding transcript variant, coding sequence variant, missense variant
rs35189056	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs61739895	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs61739911	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs63749869	G>A	Drug-response, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs111364296	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs111364670	G>A,T	Pathogenic	Splice donor variant
rs111436401	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs111888148	G>A,T	Drug-response, uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs112563513	G>A	Drug-response, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs113379223	G>A,C,T	Likely-pathogenic	Splice acceptor variant
rs113460156	G>A,C	Likely-pathogenic	Splice donor variant
rs113928116	G>C,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs114975624	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs118126378	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs118192113	C>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs118192115	G>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192116	C>G,T	Drug-response, not-provided, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs118192117	T>C	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192118	C>T	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192119	G>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192120	G>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs118192121	A>C	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192122	G>A	Drug-response, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192123	T>C	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192124	C>T	Drug-response, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192125	G>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192126	A>G,T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192129	C>A	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192130	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs118192131	T>C,G	Not-provided, pathogenic, uncertain-significance	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs118192132	T>A	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192133	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192134	C>T	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192135	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192136	G>A	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192138	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192139	A>C,G	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192140	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192141	A>C	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192142	C>T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192143	C>G,T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192144	A>G	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192146	A>G	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192147	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192148	G>A,T	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192149	G>C	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192150	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192151	G>A,C	Pathogenic-likely-pathogenic, not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192153	C>G,T	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192154	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192155	C>A	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192156	T>C	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192158	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192159	C>G,T	Likely-benign, pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant
rs118192160	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192161	C>T	Drug-response, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192162	A>C,G	Drug-response, risk-factor, pathogenic, not-provided	Coding sequence variant, non coding transcript variant, missense variant
rs118192163	G>A,C,T	Drug-response, risk-factor, pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192165	CGCCAGTTC>-	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs118192166	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192167	A>G	Drug-response, risk-factor, pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192168	G>A	Drug-response, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192169	TTCTACAACAAGAGCGAGGAT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs118192170	T>A,C	Drug-response, pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192171	TT>AC	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192172	C>G,T	Drug-response, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs118192173	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192174	T>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192175	C>T	Drug-response, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192176	G>A	Drug-response, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192177	C>G,T	Drug-response, risk-factor, likely-pathogenic, not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192178	C>G,T	Drug-response, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192179	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192180	C>A,T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192181	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192183	G>A	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192184	A>G	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918592	G>A,C	Drug-response, risk-factor, pathogenic-likely-pathogenic, not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918593	G>A	Drug-response, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918594	G>A,T	Drug-response, risk-factor, pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918595	C>T	Drug-response, risk-factor, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918596	GAG>-	Drug-response, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs137932199	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs137933390	A>G	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs138156449	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs138630815	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs138704724	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs138874610	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs139069946	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs139161723	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs140689610	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs140750876	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs140808099	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs142558977	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs142929172	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs143418190	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs143849895	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs143861818	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs144157950	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs144164620	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs144336148	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, drug-response, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs144350050	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs145044872	G>A,C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs145088074	G>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs145434723	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs145771708	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs146104858	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs146306934	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs146504767	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs146617004	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs146876145	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs147012990	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs147136339	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs147213895	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs147303895	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs147707463	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs147723844	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs148623597	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, non coding transcript variant, coding sequence variant
rs148772854	C>T	Likely-benign, benign-likely-benign, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs149185729	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs149471411	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs150396398	G>A,C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs150495044	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs192495718	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs192863857	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922746	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922747	T>C	Drug-response, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922748	C>T	Drug-response, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs193922753	G>A,T	Drug-response, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922757	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922762	C>A,T	Drug-response, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs193922764	C>G,T	Drug-response, not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922766	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922768	C>A,G,T	Pathogenic, drug-response, likely-pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922770	C>T	Pathogenic, not-provided, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922771	->ATCA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs193922772	G>A,T	Pathogenic, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922778	G>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922781	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922791	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922797	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922802	G>A	Pathogenic, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922803	C>T	Pathogenic, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922807	G>C	Drug-response, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922809	G>A	Drug-response, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922816	C>T	Pathogenic, drug-response, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922818	G>A	Pathogenic, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922820	G>A,C	Pathogenic, not-provided	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs193922826	C>G,T	Pathogenic, risk-factor, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922832	G>A	Drug-response, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922836	C>T	Pathogenic, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922837	C>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant
rs193922839	G>A,C,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922842	C>G,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs193922843	G>T	Drug-response, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922846	GCGGCGGCT>-,GCGGCGGCTGCGGCGGCT	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, inframe insertion, inframe deletion
rs193922854	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs193922856	CAGCAGTGACGCGCGCTGGG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs193922860	G>A	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922867	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922868	G>A	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922870	A>T	Pathogenic, not-provided	Genic downstream transcript variant, splice acceptor variant
rs193922873	G>A,T	Not-provided, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922874	T>C	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922876	C>T	Drug-response, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922878	C>G	Drug-response, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922879	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922884	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922886	A>G	Pathogenic, not-provided	Genic downstream transcript variant, intron variant
rs193922887	C>A,G,T	Pathogenic, not-provided	Genic downstream transcript variant, synonymous variant, coding sequence variant, stop gained
rs193922893	GTCATC>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs193922895	C>A,G,T	Not-provided, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs193922897	G>C,T	Not-provided, likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs199828145	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200068725	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200069592	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200124278	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200355885	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs200427576	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200546266	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs200563280	C>G,T	Pathogenic, likely-benign, likely-pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs200777598	G>C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs200780880	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, non coding transcript variant
rs200893443	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200914778	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200950362	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200950673	A>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201686887	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs201834803	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs202160739	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs367543054	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs367543055	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs367543056	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs367543057	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs367543058	T>G	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs368108496	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs368711923	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs368874586	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs369206584	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs369466056	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, non coding transcript variant
rs370350821	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs370634440	G>A,T	Likely-benign, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs371027185	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs371047178	GGA>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, inframe deletion
rs371455345	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs371566475	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs374115286	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs374924686	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs376687300	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs376790946	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs377178986	C>A	Pathogenic, likely-benign, benign, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs377664510	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, intron variant
rs387906681	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs398123469	CACGGCGGC>-,CACGGCGGCCACGGCGGC,CACGGCGGCCACGGCGGCCACGGCGGC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, inframe insertion, inframe deletion, coding sequence variant
rs398123470	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs398123472	C>A,T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs536596969	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs537994744	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs539194350	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs551509462	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs559371263	GAG>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, non coding transcript variant, coding sequence variant
rs565173276	G>A,C,T	Likely-pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs566495420	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs567084532	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs567352621	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs587784372	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs587784373	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs587784374	C>-,CC	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs587784375	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs587784376	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587784379	C>G,T	Uncertain-significance, likely-benign, pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs727504131	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs746818096	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs746914281	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs747409654	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs748492214	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs748743312	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs749040743	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs750938678	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs752192756	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs752199191	C>T	Pathogenic	Stop gained, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs754002399	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs754572007	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs755065800	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs755496104	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs755659741	AC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs755875230	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs756138074	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs756593088	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs756850145	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs756870293	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs757481998	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758580075	TA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758925580	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs759085500	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs759317223	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs760010175	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs761483896	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs763112609	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs763146574	A>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs763944786	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs764262446	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs765241115	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs766407858	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs767777113	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs767928113	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs768008924	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs768698639	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs768963605	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs770054352	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs771741606	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs772494345	G>A,C,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs774119942	A>G	Likely-pathogenic	Splice acceptor variant
rs774319202	TGCAGCGCCCAGTC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs774388278	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs774603798	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs774919231	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs776697656	G>A	Likely-pathogenic	Splice donor variant
rs778320565	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs779061307	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs779723153	CT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727460	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727683	CAAAGATGTCAGC>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727982	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs794727984	G>A,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs794728696	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs797045931	TGGCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045932	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045933	->TCCTAT	Likely-pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs797045934	G>A,T	Pathogenic	Splice donor variant
rs797045935	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs876661306	GGGCTGGGGCGGCAACGGGGTCGGCGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs878854365	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs878854375	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs886039586	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs886041380	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041511	GGGCGGAGACTTTGTG>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042171	AGAAATCCAGTTCC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs886042826	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs919322708	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs928989953	->GGGGAGA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs978984063	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs1003914966	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057517909	T>A	Likely-pathogenic	Splice donor variant
rs1057518773	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057518885	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518940	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057518970	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1057519173	G>A	Likely-pathogenic	Splice donor variant
rs1057520711	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057523844	G>T	Likely-pathogenic	Splice donor variant
rs1057524858	G>A	Likely-pathogenic	Splice donor variant
rs1064793254	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064793717	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1064793932	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1064794572	TTC>-,TTCTTC	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, inframe insertion, genic downstream transcript variant, inframe deletion
rs1064794845	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1085307631	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1085307909	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691626	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1131691876	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1169938399	G>A,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1171637302	C>A,T	Pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs1186905126	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1189024951	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1226228092	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1234999215	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1248355799	ACTGCGCG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1249942711	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1263237391	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1278804520	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1281542312	->GCCCGGGCGGCGGAACCCG	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1283302989	G>A,T	Pathogenic-likely-pathogenic	Splice donor variant
rs1317181118	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1332371891	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1346257891	A>G	Likely-pathogenic	Splice acceptor variant
rs1346649518	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1361451153	G>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs1381186128	G>C,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1419938249	->CA	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1432807966	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1440262870	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1443083095	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, intron variant
rs1447117024	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1447188345	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1456276440	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555762532	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555767403	T>G	Pathogenic	Splice donor variant
rs1555769544	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555769818	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555770968	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555772199	CCTG>GCT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555775774	GACCC>-	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555777043	A>G	Likely-pathogenic	Splice acceptor variant
rs1555777086	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555779450	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555780327	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555783458	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555784801	T>C	Likely-pathogenic	Splice donor variant
rs1555785090	CT>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555785388	G>C	Likely-pathogenic	Splice acceptor variant
rs1555785771	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555785906	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555786205	CTGGGTAC>AAGCGG	Pathogenic	Intron variant, coding sequence variant, splice donor variant, non coding transcript variant
rs1555786853	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555787058	CT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555788577	T>C	Likely-pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs1555793236	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555794209	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555795308	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555799628	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555800097	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555801843	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555801850	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555801872	->ATGGTGTACTACTTC	Likely-pathogenic	Coding sequence variant, inframe insertion, genic downstream transcript variant
rs1555801874	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555801879	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555801902	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555803803	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555803922	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555803933	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555803960	TC>AA	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555805633	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568436081	G>T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568440962	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568443969	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568445415	G>A	Likely-pathogenic	Splice donor variant
rs1568451320	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568452917	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568454672	->CG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568469505	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568476007	->CCTCA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568476203	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568480914	G>A	Likely-pathogenic	Splice donor variant
rs1568481364	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568501059	G>A,C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568501473	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568503046	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568507354	G>A	Likely-pathogenic	Splice acceptor variant
rs1568509739	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568510406	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568514017	G>A	Likely-pathogenic	Splice acceptor variant
rs1568530776	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568549310	GGAGAGACAGGTGCCA>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1568562752	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568582893	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568583728	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568583900	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568584027	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568584452	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1568587495	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568591803	A>C	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1568593747	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568593922	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568594068	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568604308	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568605049	->GTCTACCTGTACACCGTGGTGGCCTTC	Likely-pathogenic	Coding sequence variant, inframe insertion, genic downstream transcript variant
rs1568605367	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568611775	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568613061	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568613113	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568613962	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1568614042	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1599625856	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599641280	->GCTGGAGGCGAATTCTGGGGAGA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599646668	C>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1599649479	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs1599665128	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1599673988	GCTCCCCTCCCTCAGTGT>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1599674179	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1599674197	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1600649879	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600682739	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600683021	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600731073	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600770908	CT>G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600783776	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600787461	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600820232	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600822174	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600832922	TCACCAAG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600842678	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600843056	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600844997	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600892115	G>A	Likely-pathogenic	Coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs1600949818	TGATATCATGGCAAAGGTGAGGC>-	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, splice donor variant
rs1600989183	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

Show/Hide all (5)

miRTarBase ID	miRNA	Experiments
MIRT2096123	hsa-miR-1207-3p	CLIP-seq
MIRT2096124	hsa-miR-4640-5p	CLIP-seq
MIRT2096125	hsa-miR-4726-5p	CLIP-seq
MIRT2096126	hsa-miR-4731-5p	CLIP-seq
MIRT2096127	hsa-miR-637	CLIP-seq

Show/Hide all (73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001666	Process	Response to hypoxia	IDA	19120137
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IBA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IDA	10026226, 22480578
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IEA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IMP	11741831, 16163667, 26115329
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	ISS
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	TAS	19095005
GO:0005245	Function	Voltage-gated calcium channel activity	ISS
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	ISS
GO:0005509	Function	Calcium ion binding	ISS
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005737	Component	Cytoplasm	IDA	11206130
GO:0005790	Component	Smooth endoplasmic reticulum	IBA
GO:0005790	Component	Smooth endoplasmic reticulum	TAS	2298749
GO:0005886	Component	Plasma membrane	IDA	11206130
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2298749
GO:0005938	Component	Cell cortex	IDA	11206130
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	ISS
GO:0006816	Process	Calcium ion transport	TAS	7511586
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006936	Process	Muscle contraction	ISS
GO:0006936	Process	Muscle contraction	TAS	9030597
GO:0006941	Process	Striated muscle contraction	IBA
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	19095005
GO:0014802	Component	Terminal cisterna	ISS	1374404
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0015278	Function	Intracellularly gated calcium channel activity	TAS	9030597
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030018	Component	Z disc	IBA
GO:0031000	Process	Response to caffeine	IEA
GO:0031000	Process	Response to caffeine	ISS
GO:0031090	Component	Organelle membrane	ISS
GO:0031674	Component	I band	IDA	11206130
GO:0033017	Component	Sarcoplasmic reticulum membrane	IBA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IDA	7556644
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034704	Component	Calcium channel complex	IBA
GO:0042383	Component	Sarcolemma	IBA
GO:0043588	Process	Skin development	ISS
GO:0043931	Process	Ossification involved in bone maturation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048741	Process	Skeletal muscle fiber development	ISS
GO:0048763	Function	Calcium-induced calcium release activity	IMP	26115329
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	10026226
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	11741831, 16163667
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051289	Process	Protein homotetramerization	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071313	Process	Cellular response to caffeine	IMP	16163667, 26115329
GO:0071313	Process	Cellular response to caffeine	ISS
GO:1990425	Component	Ryanodine receptor complex	ISS

MIM	HGNC	e!Ensembl
180901	10483	ENSG00000196218

P21817

Protein name

Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal muscle calcium release channel) (Skeletal muscle ryanodine receptor) (Skeletal muscle-type ryanodine receptor) (Type 1 ryanodine receptor)

Protein function

Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831

PDB

6UHI , 6UHS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08709	Ins145_P3_rec	8 → 210	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
PF02815	MIR	211 → 390	MIR domain	Domain
PF01365	RYDR_ITPR	441 → 636	RIH domain	Family
PF00622	SPRY	660 → 795	SPRY domain	Family
PF02026	RyR	850 → 940	RyR domain	Family
PF02026	RyR	964 → 1054	RyR domain	Family
PF00622	SPRY	1086 → 1206	SPRY domain	Family
PF00622	SPRY	1431 → 1568	SPRY domain	Family
PF01365	RYDR_ITPR	2159 → 2369	RIH domain	Family
PF02026	RyR	2735 → 2825	RyR domain	Family
PF02026	RyR	2855 → 2939	RyR domain	Family
PF08454	RIH_assoc	3874 → 3992	RyR and IP3R Homology associated	Family
PF06459	RR_TM4-6	4382 → 4671	Ryanodine Receptor TM 4-6	Family
PF00520	Ion_trans	4773 → 4949	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Skeletal muscle and brain (cerebellum and hippocampus). {ECO:0000269|PubMed:9607712}.

Sequence

MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPD
LAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCL
TTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLH
LSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQ
RRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV
VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAA
PDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF
SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEE
GMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFS
TNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD
VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSK
WYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHL
WTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESFNLDGLFFPVV
SFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVG
PSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK
RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMM
SNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRL
VPYRLLDEATKRSNRDSLCQAVRTLLGYGYNIEPPDQEPSQVENQSRCDRVRIFRAEKSY
TVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGR
PWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH
LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVD
GTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAED
EARAAEPDPDYENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATT
EKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFA
GQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV
SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNV
IQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAG
ERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRV
AHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPE
TRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP
AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVK
QILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEE
GLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLL
IKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLA
HCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH
MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLG
QIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGES
KEIRFPKMVTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASV
IDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVF
VNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD
RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSL
VPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLH
VLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVD
SMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMP
LKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM
PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAE
YTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWE
WTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQLAE
NYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRG
LKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK
ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTD
APAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQART
QVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSIYSLGTTKN
TYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMC
PDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA
PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIP
TIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNR
AQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAK
AGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRY
ALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS
AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAA
WILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDY
LYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQ
MISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSV
LDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN
YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQV
FNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQK
DMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKFFDMFLKLKDIVGSEAFQDYV
TDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGF
NVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN
RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETD
EDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRL
RRLTAREAATAVAALLWAAVTRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELL
AGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAV
TDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE
PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFLNYLSRNF
YTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEA
EGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLVIFKREKELAR
KLEFDGLYITEQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAE
LLGMDLATLEITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS
LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFF
RKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDIT
FFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGSDYFDTTPHGFETHT
LEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS

Sequence length

5038

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Apelin signaling pathway Circadian entrainment Long-term depression Oxytocin signaling pathway Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases		Stimuli-sensing channels Ion homeostasis

15943

Show/Hide Causal Diseases (48)

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	rs2145682223, rs2145895177, rs1429521079, rs886039586, rs1600949818, rs756870293, rs118192178	RCV001814355 RCV001814427 RCV001814574 RCV001814134 RCV001836881 RCV001814236 RCV001814037
Absence of the sacrum	Pathogenic	rs118192177	RCV000162149
Acute rhabdomyolysis	Likely pathogenic	rs193922781	RCV005865238
Arthrogryposis multiplex congenita	Pathogenic; Likely pathogenic	rs758247804, rs1600682739, rs755496104, rs1568454672, rs1600783776, rs1600843056, rs1599649479, rs1599673988	RCV000499002 RCV000855481 RCV000855475 RCV000855477 RCV000855479 RCV000855478 RCV000855483 RCV000855476
Autism spectrum disorder due to AUTS2 deficiency	Pathogenic	rs1801086	RCV003330082
Central core disease, autosomal recessive	Likely pathogenic; Pathogenic	rs1568537774	RCV000853259
Central core myopathy	Pathogenic; Likely pathogenic	rs1280346095, rs1377668924, rs1974046221, rs113812662, rs1970380121, rs2145895408, rs118192146, rs2145917373, rs1457662393, rs193922839, rs148399313, rs193922748, rs193922867, rs193922868, rs193922884 View all (123 more)	RCV001449965 RCV001530192 RCV004017845 RCV005409829 RCV001775179 RCV004017866 RCV001829286 RCV001829287 RCV002497871 RCV005620342 RCV004796024 RCV003338417 RCV004820832 RCV002498548 RCV002288602 RCV001249254 RCV005016407 RCV005016408 RCV003325460 RCV002477305 RCV002505055 RCV003224799 RCV001823114 RCV005003481 RCV004698826 RCV000763425 RCV002492410 RCV005025190 RCV002484631 RCV002281653 RCV002279180 RCV005016467 RCV002284047 RCV002288294 RCV002290319 RCV002478416 RCV003340598 RCV005021563 RCV002492793 RCV001449967 RCV005416646 RCV001249639 RCV005028057 RCV005003587 RCV000763426 RCV005625491 RCV002503974 RCV005355592 RCV003335792 RCV003340784 RCV002496349 RCV000013832 RCV000013834 RCV002288488 RCV002490361 RCV000056223 RCV000013842 RCV001729347 RCV005624685 RCV000013851 RCV000013858 RCV000013864 RCV002288489 RCV003484986 RCV005030121 RCV003992787 RCV005014940 RCV005015040 RCV005030352 RCV003883301 RCV003990362 RCV004018077 RCV004018204 RCV004018228 RCV004018253 RCV004018254 RCV005018713 RCV002488988 RCV002481528 RCV002489160 RCV000515667 RCV002506276 RCV002497013 RCV003231648 RCV002497202 RCV002497244 RCV000233916 RCV000056214 RCV002499018 RCV005019092 RCV001249649 RCV000678325 RCV005392294 RCV002507263 RCV002485817 RCV005004386 RCV000785960 RCV000786072 RCV000786073 RCV000754733 RCV000760976 RCV000761350 RCV000785057 RCV002495127 RCV002487863 RCV000853348 RCV000825544 RCV001775081 RCV000056171 RCV000056172 RCV000056173 RCV000056181 RCV000056186 RCV000056192 RCV000056194 RCV000056195 RCV000056199 RCV000056200 RCV000056205 RCV000056211 RCV000056216 RCV000056226 RCV000056227 RCV000056228 RCV000056232 RCV000056234 RCV002496742 RCV000056237 RCV000056238 RCV000056242 RCV000056244 RCV000056248 RCV000056249 RCV000056251 RCV005411626 RCV002505620 RCV001260939 RCV005419037 RCV003989647 RCV001249650 RCV001257448
Centronuclear myopathy	Likely pathogenic; Pathogenic	rs573649990, rs2145545066, rs2145393963, rs1568497199, rs768539376, rs2513987029, rs990931567, rs2514295187, rs2514101882, rs1555801902, rs769744438, rs911417327, rs1332371891, rs756870293, rs1568454672 View all (3 more)	RCV004587148 RCV004587214 RCV004587285 RCV004587384 RCV004587576 RCV004587600 RCV004587602 RCV004587603 RCV004587604 RCV004587605 RCV004586854 RCV004586880 RCV004586913 RCV004586930 RCV004586956 RCV004586957 RCV004586556 RCV001260941
Congenital contracture	Likely pathogenic; Pathogenic	rs1057518940	RCV000414976
Congenital multicore myopathy with external ophthalmoplegia	Likely pathogenic; Pathogenic	rs756326114, rs573649990, rs1460246826, rs113812662, rs538497899, rs1457662393, rs193922839, rs148399313, rs193922748, rs193922868, rs146876145, rs111888148, rs193922768, rs193922772, rs193922781 View all (78 more)	RCV001332534 RCV006249750 RCV003336401 RCV005409829 RCV001829289 RCV002497871 RCV005620342 RCV004796024 RCV005025189 RCV002498548 RCV001249254 RCV005016407 RCV005016408 RCV002477305 RCV002505055 RCV003224799 RCV005003481 RCV000171131 RCV000578408 RCV002492410 RCV005025190 RCV005406833 RCV002484631 RCV005253976 RCV005431490 RCV006445518 RCV002478416 RCV000171130 RCV003336804 RCV005021563 RCV002492793 RCV004556761 RCV001249639 RCV004546751 RCV005028057 RCV005003587 RCV000763426 RCV002503974 RCV005355592 RCV003314527 RCV003334425 RCV002496349 RCV005025050 RCV002490361 RCV000578323 RCV005016260 RCV004558247 RCV000013859 RCV000013862 RCV000013867 RCV006257257 RCV005030121 RCV005014940 RCV005015040 RCV005030352 RCV003883301 RCV004587606 RCV004560445 RCV005018713 RCV002488988 RCV002481528 RCV002489160 RCV002506276 RCV002497013 RCV002250657 RCV002497244 RCV004786294 RCV001809708 RCV005019092 RCV001249649 RCV002493120 RCV000680088 RCV005392294 RCV002225115 RCV002485817 RCV004788147 RCV005004386 RCV005021145 RCV000754870 RCV002495127 RCV002487863 RCV004556822 RCV005003479 RCV005016355 RCV002496742 RCV000995627 RCV002505620 RCV001260942 RCV001260944 RCV001260947 RCV003152751 RCV001249650 RCV003336362
Congenital muscular dystrophy	Likely pathogenic	rs774919231	RCV000414955
Congenital myopathy	Likely pathogenic; Pathogenic	rs377178986	RCV000148788
Congenital myopathy with fiber type disproportion	Pathogenic; Likely pathogenic	rs1457662393, rs193922868, rs193922772, rs193922781, rs193922803, rs193922809, rs193922810, rs759632485, rs377178986, rs772494345, rs111436401, rs886041380, rs118192172, rs28933397, rs1057518940 View all (22 more)	RCV002497871 RCV002498548 RCV002477305 RCV002505055 RCV000763425 RCV002492410 RCV001197604 RCV002484631 RCV001795258 RCV002492793 RCV000763426 RCV002503974 RCV002496349 RCV002490361 RCV001198534 RCV002488988 RCV002481528 RCV002489160 RCV002506276 RCV002497013 RCV002497202 RCV002497244 RCV000034925 RCV000034926 RCV000034927 RCV000034928 RCV002499018 RCV002493120 RCV002507263 RCV002485817 RCV002495127 RCV002487863 RCV001198416 RCV002496742 RCV002505620 RCV001796365 RCV001198007
Delayed gross motor development	Likely pathogenic; Pathogenic	rs193922839, rs1057518940	RCV000415300 RCV000414976
desflurane response - Toxicity	Pathogenic; Likely pathogenic	rs193922747, rs193922843, rs193922764, rs193922748, rs193922876, rs193922878, rs193922768, rs193922770, rs193922772, rs193922753, rs112563513, rs121918596, rs193922802, rs193922803, rs193922807 View all (17 more)	RCV001787930 RCV001787937 RCV003227642 RCV001787944 RCV001787951 RCV001787958 RCV003227649 RCV001787965 RCV002222020 RCV003227656 RCV001787972 RCV001787979 RCV001787986 RCV001787993 RCV001788000 RCV001788007 RCV001788014 RCV001788021 RCV001788028 RCV003227663 RCV001787388 RCV001787395 RCV001787402 RCV001787719 RCV001787726 RCV001787740 RCV001787747 RCV001787761 RCV001787768 RCV001787796 RCV001787847 RCV001787854
Distal arthrogryposis	Likely pathogenic	rs1555769818	RCV000626707
enflurane response - Toxicity	Pathogenic; Likely pathogenic	rs193922747, rs193922843, rs193922764, rs193922748, rs193922876, rs193922878, rs193922768, rs193922770, rs193922772, rs193922753, rs112563513, rs121918596, rs193922802, rs193922803, rs193922807 View all (17 more)	RCV001787931 RCV001787938 RCV003227643 RCV001787945 RCV001787952 RCV001787959 RCV003227650 RCV001787966 RCV002222021 RCV003227657 RCV001787973 RCV001787980 RCV001787987 RCV001787994 RCV001788001 RCV001788008 RCV001788015 RCV001788022 RCV001788029 RCV003227664 RCV001787389 RCV001787396 RCV001787706 RCV001787720 RCV001787727 RCV001787741 RCV001787748 RCV001787762 RCV001787769 RCV001787797 RCV001787848 RCV001787855
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs1600682739, rs755496104, rs1568454672, rs1600783776, rs1600843056, rs1599649479, rs1599673988	RCV000855481 RCV000855475 RCV000855477 RCV000855479 RCV000855478 RCV000855483 RCV000855476
halothane response - Toxicity	Pathogenic; Likely pathogenic	rs193922747, rs193922843, rs193922764, rs193922748, rs193922876, rs193922878, rs193922768, rs193922770, rs193922772, rs193922753, rs112563513, rs121918596, rs193922802, rs193922803, rs193922807 View all (17 more)	RCV001787932 RCV001787939 RCV003227644 RCV001787946 RCV001787953 RCV001787960 RCV003227651 RCV001787967 RCV002222022 RCV003227658 RCV001787974 RCV001787981 RCV001787988 RCV001787995 RCV001788002 RCV001788009 RCV001788016 RCV001788023 RCV001788030 RCV003227665 RCV001787390 RCV001787397 RCV001787707 RCV001787721 RCV001787728 RCV001787742 RCV001787749 RCV001787763 RCV001787770 RCV001787798 RCV001787849 RCV001787856
History of neonatal hypotonia	Pathogenic	rs118192177	RCV000162149
Hydrops fetalis	Likely pathogenic	rs1967600281	RCV001257397
isoflurane response - Toxicity	Pathogenic; Likely pathogenic	rs193922747, rs193922843, rs193922764, rs193922748, rs193922876, rs193922878, rs193922768, rs193922770, rs193922772, rs193922753, rs112563513, rs121918596, rs193922802, rs193922803, rs193922807 View all (17 more)	RCV001787933 RCV001787940 RCV003227645 RCV001787947 RCV001787954 RCV001787961 RCV003227652 RCV001787968 RCV002222023 RCV003227659 RCV001787975 RCV001787982 RCV001787989 RCV001787996 RCV001788003 RCV001788010 RCV001788017 RCV001788024 RCV001788031 RCV003227666 RCV001787391 RCV001787398 RCV001787708 RCV001787722 RCV001787729 RCV001787743 RCV001787750 RCV001787764 RCV001787771 RCV001787799 RCV001787850 RCV001787857
King Denborough syndrome	Pathogenic; Likely pathogenic	rs1457662393, rs148399313, rs193922748, rs193922868, rs146876145, rs111888148, rs193922768, rs193922772, rs193922781, rs193922787, rs193922797, rs193922809, rs193922810, rs759632485, rs587784376 View all (45 more)	RCV002497871 RCV004796024 RCV005025189 RCV002498548 RCV005003480 RCV001249073 RCV005016408 RCV002477305 RCV002505055 RCV003224799 RCV005003481 RCV002492410 RCV005025190 RCV002484631 RCV005016467 RCV002478416 RCV005021563 RCV002492793 RCV005028057 RCV005003587 RCV005025343 RCV003152992 RCV002503974 RCV005355592 RCV002496349 RCV005025050 RCV002490361 RCV001729348 RCV005030121 RCV005014940 RCV005015040 RCV005030352 RCV003883301 RCV005018713 RCV002488988 RCV002481528 RCV002489160 RCV002506276 RCV002497013 RCV002497202 RCV002497244 RCV005394216 RCV002499018 RCV005019092 RCV002493120 RCV005392294 RCV002507263 RCV002485817 RCV005004386 RCV005409728 RCV005021145 RCV002495127 RCV002487863 RCV000049252 RCV001249074 RCV001729374 RCV005016355 RCV001731347 RCV002496742 RCV002505620
Lynch syndrome 5	Likely pathogenic; Pathogenic	rs118192180	RCV004555852
Malignant hyperthermia of anesthesia	Likely pathogenic; Pathogenic	rs193922852, rs193922769, rs2145447772, rs2145913747, rs914804033, rs193922758, rs193922839, rs148399313, rs193922843, rs193922764, rs193922766, rs193922748, rs193922867, rs113210953, rs146876145 View all (25 more)	RCV001580405 RCV001580433 RCV001580393 RCV001580432 RCV001803451 RCV001803464 RCV000610269 RCV004017404 RCV004017405 RCV000610923 RCV004017406 RCV001450005 RCV004689616 RCV001449998 RCV001580431 RCV000605381 RCV001449797 RCV004700425 RCV001449805 RCV005417967 RCV003323407 RCV001824615 RCV004017408 RCV004525874 RCV004017409 RCV000601471 RCV006268618 RCV001802878 RCV002271841 RCV002051687 RCV000608635 RCV004017237 RCV004017238 RCV004017239 RCV000612258 RCV000614410 RCV003398498 RCV000606881 RCV001802876 RCV001824568 RCV005431883 RCV004700357 RCV001193859
Malignant hyperthermia, susceptibility to	Likely pathogenic; Pathogenic	rs193922809, rs118192177	RCV004556734 RCV004556715
Malignant hyperthermia, susceptibility to, 1	Likely pathogenic; Pathogenic	rs1974046221, rs113812662, rs1448949048, rs2145361853, rs762401851, rs1970380121, rs1457662393, rs121918592, rs193922747, rs193922839, rs148399313, rs193922842, rs193922843, rs193922764, rs193922766 View all (119 more)	RCV004804225 RCV001580389 RCV001580440 RCV001591943 RCV001591945 RCV004008957 RCV002497871 RCV002051810 RCV001588932 RCV002281938 RCV001580388 RCV000210014 RCV002281939 RCV001822999 RCV001588935 RCV001450001 RCV003993811 RCV001588936 RCV003231155 RCV002225084 RCV002281941 RCV000148804 RCV001802865 RCV000148805 RCV001588943 RCV001580394 RCV002281942 RCV001705880 RCV001588945 RCV001588946 RCV001588949 RCV000148807 RCV001588953 RCV003224799 RCV001580391 RCV001580441 RCV001580443 RCV001580442 RCV001588955 RCV000185536 RCV005409618 RCV000013850 RCV001588959 RCV000148806 RCV000763425 RCV001580416 RCV002281945 RCV001127650 RCV000148824 RCV001802868 RCV001802869 RCV001802870 RCV001257496 RCV002281946 RCV001588961 RCV002281947 RCV001588963 RCV003453983 RCV002484631 RCV003455901 RCV003454050 RCV002256959 RCV002466285 RCV002466296 RCV003998164 RCV000990206 RCV005021563 RCV002492793 RCV004804789 RCV005028057 RCV005003587 RCV000763426 RCV005625491 RCV002503974 RCV003995775 RCV000013830 RCV000013831 RCV002281705 RCV000013833 RCV000013836 RCV000013837 RCV000013838 RCV000013840 RCV000013841 RCV000013845 RCV000013846 RCV000013847 RCV002288603 RCV000013865 RCV003444472 RCV004011356 RCV005030121 RCV005014940 RCV005015040 RCV005030352 RCV003883301 RCV003995931 RCV002488988 RCV002481528 RCV002489160 RCV004003418 RCV002506276 RCV002497013 RCV002497202 RCV003999519 RCV002497244 RCV003996181 RCV002499018 RCV004004155 RCV004004132 RCV000678325 RCV001592885 RCV005392294 RCV005646988 RCV001580411 RCV001258048 RCV002282345 RCV001592931 RCV003999867 RCV003999814 RCV002507263 RCV002485817 RCV003999820 RCV003999821 RCV005021145 RCV003128254 RCV000789037 RCV004001735 RCV002487863 RCV004001599 RCV003485651 RCV001588881 RCV003997313 RCV003996484 RCV001588885 RCV002281899 RCV000709760 RCV002281900 RCV003996488 RCV002496742 RCV000990201 RCV002505620 RCV001262019 RCV001263008
methoxyflurane response - Toxicity	Pathogenic; Likely pathogenic	rs193922747, rs193922843, rs193922764, rs193922748, rs193922876, rs193922878, rs193922768, rs193922770, rs193922772, rs193922753, rs112563513, rs121918596, rs193922802, rs193922803, rs193922807 View all (17 more)	RCV001787934 RCV001787941 RCV003227646 RCV001787948 RCV001787955 RCV001787962 RCV003227653 RCV001787969 RCV002222024 RCV003227660 RCV001787976 RCV001787983 RCV001787990 RCV001787997 RCV001788004 RCV001788011 RCV001788018 RCV001788025 RCV001788032 RCV003227667 RCV001787392 RCV001787399 RCV001787709 RCV001787723 RCV001787730 RCV001787744 RCV001787751 RCV001787765 RCV001787772 RCV001787800 RCV001787851 RCV001787858
Multiminicore myopathy	Likely pathogenic; Pathogenic	rs376526576	RCV000148815
Myopathy	Pathogenic; Likely pathogenic	rs797045931, rs797045932, rs797045934, rs797045935, rs774919231, rs1057518773	RCV000192785 RCV000193833 RCV000194934 RCV000194443 RCV000414955 RCV000415002
Myopathy, RYR1-associated	Pathogenic	rs1393197844, rs1555787058, rs193922837	RCV003988468 RCV003403347 RCV004689614
Neuromuscular disease	Likely pathogenic	rs193922839	RCV000610269
Neuromuscular disease, congenital, with uniform type 1 fiber	Likely pathogenic; Pathogenic	rs118192171, rs193922856	RCV000013868 RCV000013870
Pelvic girdle muscle weakness	Likely pathogenic	rs193922839	RCV000415300
Progressive distal muscle weakness	Likely pathogenic	rs193922839	RCV000415300
Proximal amyotrophy	Likely pathogenic; Pathogenic	rs1057518940	RCV000414976
Proximal muscle weakness	Likely pathogenic	rs193922839	RCV000415300
Ptosis	Pathogenic	rs118192177	RCV000162149
Respiratory insufficiency	Likely pathogenic	rs774919231	RCV000414955
Rhabdomyolysis	Likely pathogenic	rs1555762532	RCV000662287
RYR1-related disorder	Likely pathogenic; Pathogenic	rs756326114, rs1185644472, rs573649990, rs2145482463, rs1221087983, rs2145723826, rs2145870526, rs63749869, rs1159003478, rs768718943, rs1460246826, rs2145562180, rs2145638522, rs2145711507, rs780578391 View all (447 more)	RCV003106196 RCV001370507 RCV001377939 RCV001378798 RCV001379178 RCV001378950 RCV001378751 RCV001377444 RCV001381739 RCV001389365 RCV001385699 RCV001388837 RCV001381405 RCV001385995 RCV001381324 RCV001390358 RCV001383437 RCV001383768 RCV001873747 RCV003757223 RCV003591879 RCV002568242 RCV001866101 RCV002569134 RCV002579468 RCV003757225 RCV003757394 RCV002541212 RCV003318404 RCV003591895 RCV002034691 RCV002025952 RCV001969076 RCV001941696 RCV001941795 RCV003591679 RCV001244597 RCV001389265 RCV000531152 RCV000802489 RCV000655592 RCV001854577 RCV003591680 RCV001238887 RCV001070022 RCV001380753 RCV000695746 RCV001854579 RCV000554319 RCV000655554 RCV000802081 RCV001214522 RCV000536735 RCV001068141 RCV003591683 RCV001854581 RCV001057054 RCV000534082 RCV002514602 RCV001327116 RCV000688108 RCV001047827 RCV000691232 RCV000554523 RCV001384027 RCV001383434 RCV000803469 RCV002514605 RCV001236218 RCV001854585 RCV001216014 RCV001050747 RCV002514606 RCV000655594 RCV000704587 RCV000528193 RCV000691233 RCV001854587 RCV001933247 RCV001947786 RCV001877400 RCV002031590 RCV001955528 RCV001977479 RCV002035591 RCV002005021 RCV001967613 RCV002028811 RCV001990810 RCV001993143 RCV001887825 RCV002016243 RCV002016321 RCV001933561 RCV002040771 RCV001938831 RCV001951288 RCV001967098 RCV001925776 RCV001925869 RCV001942316 RCV001958612 RCV001995917 RCV001945449 RCV001947072 RCV001959207 RCV001892118 RCV002006466 RCV001947997 RCV001966655 RCV001889673 RCV002026569 RCV002042653 RCV003089201 RCV003591920 RCV003591922 RCV001382511 RCV001057643 RCV000704053 RCV003064582 RCV003041369 RCV003070151 RCV003100478 RCV003082827 RCV002591632 RCV003112150 RCV003112151 RCV003121474 RCV003104331 RCV002571646 RCV003591696 RCV002580346 RCV002608144 RCV002594885 RCV002594622 RCV000793270 RCV002667108 RCV002736775 RCV002786242 RCV002761273 RCV002810489 RCV002820024 RCV002824905 RCV002796726 RCV002816043 RCV002843059 RCV002858291 RCV002875979 RCV002848226 RCV002871589 RCV003757158 RCV001380374 RCV000655569 RCV002871844 RCV002907848 RCV002895060 RCV002937985 RCV002932871 RCV002966409 RCV002953895 RCV002993629 RCV003007615 RCV003016830 RCV003028799 RCV003031586 RCV003022593 RCV003042733 RCV003040456 RCV003051687 RCV003027831 RCV003036541 RCV003052519 RCV000550931 RCV000695241 RCV003591997 RCV001047738 RCV001385846 RCV000797405 RCV000655579 RCV001042937 RCV000538121 RCV001851834 RCV000707405 RCV000806352 RCV000655541 RCV000551243 RCV000796565 RCV001385701 RCV001204982 RCV000557804 RCV000655558 RCV003591630 RCV003592030 RCV000817589 RCV001851836 RCV003591631 RCV002513027 RCV001216605 RCV003405210 RCV003592518 RCV003592400 RCV003592462 RCV003592488 RCV003592573 RCV003592626 RCV003592781 RCV003592827 RCV003592670 RCV003592681 RCV003592790 RCV003592838 RCV003592868 RCV003593241 RCV003593217 RCV003593292 RCV003591321 RCV003593332 RCV003593333 RCV003593335 RCV003593336 RCV003593339 RCV003593340 RCV003591149 RCV003591198 RCV003591328 RCV003591348 RCV003591408 RCV003591400 RCV003591402 RCV003591519 RCV003591395 RCV003591433 RCV003591482 RCV003591364 RCV003591417 RCV003591503 RCV003591536 RCV003591569 RCV003591571 RCV003592204 RCV003592223 RCV003592131 RCV003592159 RCV003592199 RCV003591613 RCV003592237 RCV003591605 RCV003592147 RCV003592171 RCV003592213 RCV003757399 RCV003757369 RCV003757384 RCV003757396 RCV003757417 RCV003757464 RCV003757450 RCV003757437 RCV003757498 RCV003757575 RCV003757549 RCV003757580 RCV003757644 RCV003757647 RCV003757584 RCV003757630 RCV003757589 RCV003757638 RCV003757661 RCV003757773 RCV003757686 RCV003757746 RCV003757676 RCV003757699 RCV003757821 RCV003757836 RCV003757872 RCV003757857 RCV003757947 RCV003757903 RCV003758055 RCV003756700 RCV003756743 RCV003758032 RCV003758079 RCV003758111 RCV003756711 RCV003756781 RCV003756939 RCV003756940 RCV003756844 RCV003756894 RCV003756955 RCV003756987 RCV003757118 RCV003757143 RCV003758146 RCV003758184 RCV003812006 RCV003813733 RCV003828052 RCV003838947 RCV003827017 RCV003827448 RCV003832596 RCV003829572 RCV003835584 RCV003834331 RCV003846038 RCV003849843 RCV003863689 RCV003861482 RCV003856445 RCV003876309 RCV003874299 RCV003874644 RCV003872269 RCV003871885 RCV003872669 RCV003879083 RCV003871166 RCV003865145 RCV003881654 RCV001233334 RCV001861443 RCV001865407 RCV003591735 RCV001222879 RCV001380724 RCV000548242 RCV003757182 RCV000800586 RCV002524289 RCV001382888 RCV001858000 RCV001851492 RCV000529717 RCV000558544 RCV000559962 RCV000543965 RCV000541517 RCV000550760 RCV000533342 RCV000542042 RCV000554995 RCV000525066 RCV000526171 RCV000547545 RCV000530668 RCV000547123 RCV000558697 RCV000528740 RCV000555491 RCV000557858 RCV002530963 RCV001854028 RCV000655590 RCV000529599 RCV005089338 RCV003591635 RCV001855333 RCV002529809 RCV001225967 RCV000655520 RCV000655600 RCV000655575 RCV000655529 RCV000655574 RCV000655496 RCV000655503 RCV000655591 RCV000655507 RCV000655547 RCV000655506 RCV000655523 RCV000655601 RCV003591771 RCV000705746 RCV000686528 RCV000701388 RCV000692513 RCV000694993 RCV000696617 RCV000703429 RCV000694878 RCV000695067 RCV000692043 RCV000692532 RCV000706118 RCV000695664 RCV000695334 RCV000690623 RCV002534512 RCV003757199 RCV003591776 RCV001044390 RCV001862100 RCV001862105 RCV001868912 RCV000808821 RCV001067312 RCV002534997 RCV002534998 RCV000815082 RCV001862094 RCV000806085 RCV000814221 RCV002533062 RCV001862095 RCV005092113 RCV001206699 RCV002536549 RCV003757205 RCV001873202 RCV000823475 RCV000811818 RCV000816360 RCV000795646 RCV000814160 RCV000824642 RCV000796219 RCV000793587 RCV000810389 RCV000816409 RCV000803310 RCV000800913 RCV000808855 RCV000823612 RCV000801582 RCV000820288 RCV000816801 RCV000821729 RCV000801544 RCV001383922 RCV003591651 RCV000535801 RCV001390401 RCV002513729 RCV001854161 RCV001382210 RCV004528261 RCV001383435 RCV005089462 RCV000527240 RCV000699835 RCV000552166 RCV001854163 RCV001046476 RCV000536286 RCV005089463 RCV001248735 RCV001059952 RCV001058792 RCV001066368 RCV001068633 RCV001048501 RCV001037057 RCV001059034 RCV001056298 RCV001053096 RCV001042590 RCV001046203 RCV001055629 RCV001064352 RCV001065934 RCV001863063 RCV005089499 RCV001218877 RCV001216614 RCV001212626 RCV001205857 RCV001203623 RCV001201728 RCV001203098 RCV001213615 RCV001210308 RCV001203970 RCV001216297 RCV001227328 RCV001240439 RCV001242072 RCV001242737 RCV001239893 RCV003770407 RCV001859231
RYR1-related myopathy	Likely pathogenic; Pathogenic	rs2145895177, rs762401851, rs1970380121, rs2145912840, rs2145606794, rs1600706153, rs193922766, rs193922816, rs1238479593, rs111436401, rs1568604535, rs886039586, rs746538672, rs193922856, rs556749534 View all (16 more)	RCV004587174 RCV004587190 RCV004738355 RCV001829282 RCV001829283 RCV001829288 RCV004586557 RCV004786377 RCV003225986 RCV005859342 RCV002789973 RCV003761884 RCV002519169 RCV004737151 RCV003459148 RCV004738750 RCV003764469 RCV004587642 RCV004587643 RCV004587644 RCV005252910 RCV004737600 RCV005252703 RCV004993976 RCV004788145 RCV004788146 RCV002537021 RCV002537300 RCV005430496 RCV002221195 RCV006266673
Scoliosis	Likely pathogenic	rs193922839	RCV000415300
See cases	Likely pathogenic; Pathogenic	rs1064794572	RCV004797818
sevoflurane response - Toxicity	Pathogenic; Likely pathogenic	rs193922747, rs193922843, rs193922764, rs193922748, rs193922876, rs193922878, rs193922768, rs193922770, rs193922772, rs193922753, rs112563513, rs121918596, rs193922802, rs193922803, rs193922807 View all (17 more)	RCV001787935 RCV001787942 RCV003227647 RCV001787949 RCV001787956 RCV001787963 RCV003227654 RCV001787970 RCV002222025 RCV003227661 RCV001787977 RCV001787984 RCV001787991 RCV001787998 RCV001788005 RCV001788012 RCV001788019 RCV001788026 RCV001788033 RCV003227668 RCV001787393 RCV001787400 RCV001787710 RCV001787724 RCV001787731 RCV001787745 RCV001787752 RCV001787766 RCV001787773 RCV001787801 RCV001787852 RCV001787859
Short stature	Likely pathogenic; Pathogenic	rs1057518940	RCV000414976
succinylcholine response - Toxicity	Pathogenic; Likely pathogenic	rs193922747, rs193922843, rs193922764, rs193922748, rs193922876, rs193922878, rs193922768, rs193922770, rs193922772, rs193922753, rs112563513, rs121918596, rs193922802, rs193922803, rs193922807 View all (17 more)	RCV001787936 RCV001787943 RCV003227648 RCV001787950 RCV001787957 RCV001787964 RCV003227655 RCV001787971 RCV002222026 RCV003227662 RCV001787978 RCV001787985 RCV001787992 RCV001787999 RCV001788006 RCV001788013 RCV001788020 RCV001788027 RCV001788034 RCV003227669 RCV001787394 RCV001787401 RCV001787711 RCV001787725 RCV001787732 RCV001787746 RCV001787753 RCV001787767 RCV001787774 RCV001787802 RCV001787853 RCV001787860
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs142929172	RCV005901172

Show/Hide Unknown Diseases (45)

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	rs387906681	-
Acute myeloid leukemia	Benign	rs4802583	RCV005888455
Anterior segment dysgenesis 7	Likely benign	rs146429605	RCV003993827
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	rs148041292	RCV005625449
Autosomal dominant centronuclear myopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs901087791, rs142548565, rs764448031	RCV005863431 RCV005429031 RCV005863382
Axial myopathy, late-onset	Conflicting classifications of pathogenicity; Uncertain significance	rs200950673, rs376338203	RCV000148800 RCV000148826
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs118128821, rs4802583, rs192495718	RCV005918915 RCV005888457 RCV005889954
Clubfoot	Conflicting classifications of pathogenicity	rs118192174	RCV000415169
Congenital hip dislocation	Uncertain significance; Benign	rs1057518924, rs150396398	RCV000414988 RCV000415198
Congenital myasthenic syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs370966353, rs146206507	RCV000415245 RCV000414772
Congenital myasthenic syndrome 12	Conflicting classifications of pathogenicity	rs201588259	RCV002289773
Congenital myopathy with cores	Uncertain significance	rs193922879	RCV000148830
Distal myopathy	Uncertain significance	rs151119428	RCV005625450
Elevated circulating creatine kinase concentration	Conflicting classifications of pathogenicity; Uncertain significance	rs138593495, rs138978909, rs757157750	RCV000626705 RCV000626708 RCV000626706
EMG abnormality	Conflicting classifications of pathogenicity	rs118192174	RCV000415169
EMG: myopathic abnormalities	Uncertain significance; Benign	rs1057518924, rs150396398	RCV000414988 RCV000415198
Epilepsy	Likely benign; Conflicting classifications of pathogenicity	rs375669412, rs759582696	RCV005625391 RCV005625683
Exercise-induced myalgia	Conflicting classifications of pathogenicity; Uncertain significance	rs138593495, rs138978909, rs757157750	RCV000626705 RCV000626708 RCV000626706
Familial cancer of breast	Likely benign; Uncertain significance	rs142016637, rs727504130	RCV005919088 RCV005888454
Gastric cancer	Benign; Likely benign	rs61750975	RCV005891336
Generalized muscle weakness	Uncertain significance; Benign	rs1057518924, rs150396398	RCV000414988 RCV000415198
Germ cell tumor of testis	Benign	rs2229144	RCV005886250
Hereditary skeletal muscle disorder	Benign; Likely benign; Uncertain significance	rs147213895, rs761386401	RCV005625299 RCV005622012
Hypotonia	Conflicting classifications of pathogenicity	rs113460156	RCV000490681
Intellectual disability	Conflicting classifications of pathogenicity	rs193922846	RCV005626139
Limb pain	Uncertain significance	rs1057518768	RCV000626704
Limb-girdle muscular dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs375626634, rs754173025, rs398123469	RCV005625320 RCV005626186 RCV005625273
Long QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs145044872, rs1207497085, rs1460141666, rs747337318	RCV003318366 RCV003318457 RCV003318383 RCV003318384
Lower limb amyotrophy	Conflicting classifications of pathogenicity	rs118192174	RCV000415169
Malignant hyperthermia and exertional rhabdomyolosis	Benign; Uncertain significance	rs148623597, rs143398211	RCV000148792 RCV000148821
Malignant hyperthermia equivocal with halotane	Uncertain significance	rs145573319	RCV000148818
Malignant hypothermia	Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs55876273, rs34934920, rs200069592, rs76537615, rs139647387, rs145044872, rs201679831, rs372914229, rs760784102, rs864309559, rs144157950, rs879255343, rs146361173, rs35180584	RCV000239124 RCV000203058 RCV000238822 RCV000239106 RCV000202653 RCV000203140 RCV000202682 RCV000202822 RCV000203026 RCV000202927 RCV000238630 RCV000238803 RCV000239317 RCV000202878
Malignant lymphoma, large B-cell, diffuse	Benign	rs4802583	RCV005888458
Malignant tumor of esophagus	Benign	rs4802583	RCV005888456
Mildly elevated creatine kinase	Uncertain significance	rs1057518768	RCV000626704
Multi-minicore disease and atypical periodic paralysis	Conflicting classifications of pathogenicity	rs200563280	RCV000148787
Multiminicore/minicore/multicore disease	Likely benign	rs137932199	RCV000148795
Muscular dystrophy and arthrogryposis	Conflicting classifications of pathogenicity	rs145087576	RCV000148827
Myalgia	Conflicting classifications of pathogenicity; Uncertain significance	rs138593495, rs138978909, rs757157750	RCV000626705 RCV000626708 RCV000626706
Myopathy, progressive axial with cataracts	Benign	rs150396398	RCV000148789
Myotonia	Uncertain significance	rs1057518768	RCV000626704
Osteoporosis	Uncertain significance	rs1057518768	RCV000626704
Sarcoma	Benign	rs4802583	RCV005888459
Thymoma	Benign	rs4802583	RCV005888460
Uterine carcinosarcoma	Likely benign	rs144880434	RCV005919381

Show/Hide Text Mining Associations (98)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	36131268
Alzheimer Disease	Associate	32033164
Amyotrophic Lateral Sclerosis	Associate	35355568
Anemia Diamond Blackfan	Associate	9321770
Arrhythmias Cardiac	Stimulate	29970108
Arrhythmias Cardiac	Associate	34528764
Arthrogryposis	Associate	26932181
Atrial Fibrillation	Associate	10400019
Breast Neoplasms	Associate	28971320
Cleft Palate	Associate	23553484
Colorectal Neoplasms	Associate	36341526
Compartment Syndromes	Associate	37919205
congenital fibrosis of the extraocular muscles	Associate	24091937
Contracture	Associate	29178655
Crisponi syndrome	Associate	34535181
Dementia Multi Infarct	Associate	17483490
Disease	Associate	30715496
Distal Myopathies	Associate	19797833, 29178655
Edema	Associate	26932181
Encephalopathy Spastic Tetraparesis and Hypogonadism	Associate	28269792
Essential Tremor	Associate	37335342
Fasciculation	Associate	27558158, 31165076, 31680123
Fatigue	Associate	29970108, 35698232
Fetal akinesia syndrome X linked	Associate	24961629, 25476234, 26932181, 32779773
Fibrosis of Extraocular Muscles Congenital 3B	Associate	24091937
Genetic Diseases Inborn	Associate	30027098, 30842289, 31680123, 34166122, 36833224, 40429823, 9497245
Heart Defects Congenital	Associate	34528764
Heat Stress Disorders	Associate	25658027, 26565425, 39457051
Hip Dislocation Congenital	Associate	14670767
Hydrops Fetalis	Associate	33686258
Hypospadias	Associate	30027098
Hypothermia	Associate	35414440
Infant Newborn Diseases	Associate	26932181
Inflammation	Associate	15299003
Intracranial Hemorrhages	Associate	34528764
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	37154182
Joint Instability	Associate	28269792
Lymphangioma Cystic	Associate	26932181
Malignant Hyperthermia	Associate	10051009, 14570802, 14670767, 15299003, 16372898, 17483490, 20142353, 21062345, 21088110, 21795085, 23919265, 24091937, 25658027, 26115329, 26565425 View all (27 more)
Malignant hyperthermia susceptibility type 1	Associate	10051009, 23919265, 33458582, 8430700, 9138151
Melanoma	Associate	31647501
Microcystic adnexal carcinoma	Stimulate	35509066
Minicore Myopathy with External Ophthalmoplegia	Associate	12192640, 16372898, 19797833, 20080402, 30715496, 30932294, 32272370, 35361824, 35428369, 36292611, 38582058
Mitochondrial Diseases	Associate	20443062
Mobility Limitation	Associate	35428369
Motor Disorders	Associate	30155738, 34884796
Movement Disorders	Associate	38201236
Multiple pterygium syndrome	Associate	25476234, 26932181
Muscle Cramp	Associate	29298851
Muscle Hypotonia	Associate	14670767, 27353517, 34528764, 34535181, 34970863, 35698232
Muscle Neoplasms	Associate	35666680
Muscle Rigidity	Associate	37643885
Muscle Weakness	Associate	17483490, 20839240, 24091937, 28269792, 29178655, 29298851, 29970108, 30715496, 35627144, 35741838, 38201236
Muscular Diseases	Associate	16940308, 20080402, 20839240, 21795085, 23553484, 23805838, 23894444, 23919265, 24091937, 25214167, 28269792, 29298851, 29970108, 30325262, 30611313 View all (19 more)
Muscular Dystrophies	Associate	30715496
Muscular Dystrophy Duchenne	Associate	34884796
Musculoskeletal Abnormalities	Associate	28779239
Musculoskeletal Diseases	Associate	33686258
Myalgia	Associate	29298851, 35698232
Myasthenic Syndromes Congenital	Associate	32403337
Myopathies Structural Congenital	Associate	20839240, 21482111, 27558158, 28269792, 33170376, 34463354, 34535181, 35361824, 35666680, 37364426
Myopathy Central Core	Associate	14570802, 14670767, 15175001, 15299003, 16372898, 17483490, 20142353, 20443062, 21088110, 21282829, 23183335, 23805838, 23919265, 24828896, 25084811 View all (16 more)
Myostatin related muscle hypertrophy	Associate	37154182
Myotonia Congenita	Associate	14670767, 17483490, 20839240, 21062345, 22028225, 23826317, 23919265, 25428687, 26932181, 28269792, 30715496, 30932294, 34528764, 34535181, 35081925 View all (7 more)
Neoplasms	Associate	28971320, 33232371, 36167878
Neoplastic Syndromes Hereditary	Associate	36292611
Neurodegenerative Diseases	Associate	35355568
Neurologic Manifestations	Associate	30155738
Neuromuscular Diseases	Associate	22526018, 26578207, 31903994, 32403337, 37154182
Niemann Pick Disease Type C	Associate	22505584
Obesity	Associate	25520250
Ophthalmoplegia	Associate	17483490, 20839240, 21062345, 24091937, 30155738, 35698232
Osteitis Deformans	Associate	35355568
Osteoporosis	Stimulate	37874452
Pancreatic Neoplasms	Associate	36740149
Paralyses Familial Periodic	Associate	20080402, 29298851
Paralysis	Associate	20080402
Pena Shokeir syndrome type 1	Associate	25476234
Pneumonia of Calves Enzootic	Associate	30842289
Pre Eclampsia	Inhibit	20178461
Primary Release Disorder Of Platelets	Associate	36318155
Pterygium	Associate	26932181
Ptosis Hereditary Congenital 2	Associate	21062345
Pyruvate Carboxylase Deficiency Disease	Associate	37335342
Renal Insufficiency Chronic	Associate	40429823
Respiratory Insufficiency	Associate	25428687, 34528764, 35698232, 37364426
Respiratory Paralysis	Associate	29298851
Rhabdomyolysis	Associate	26565425, 32978841
Rigid spine syndrome	Associate	23553484
Scoliosis	Associate	14670767, 37643885
Sick Sinus Syndrome 1 Autosomal Recessive	Inhibit	10400019
Spasms Infantile	Associate	29667327
Stiff Skin Syndrome	Associate	29178655
Stomach Neoplasms	Associate	27708434
Tetralogy of Fallot	Associate	30582441
Transposition of Great Vessels	Associate	34528764
Tremor	Associate	37335342
Visceral myopathy familial external ophthalmoplegia	Stimulate	29970108

RYR1 (ryanodine receptor 1)