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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3757
Gene name	Potassium voltage-gated channel subfamily H member 2
Gene symbol	KCNH2
Synonyms (NCBI Gene)	ERG-1ERG1H-ERGHERGHERG1Kv11.1LQT2SQT1
Chromosome	7
Chromosome location	7q36.1
Summary	This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding

401

Show/Hide all (401)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1137617	A>C,G,T	Pathogenic, benign, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs9333649	C>A,G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs12720441	G>A,C	Likely-pathogenic, not-provided, risk-factor	Missense variant, coding sequence variant
rs28928904	A>C,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs28928905	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs36210422	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, risk-factor	Missense variant, genic upstream transcript variant, coding sequence variant
rs41307292	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs76420733	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs76649554	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant
rs77331749	G>A	Pathogenic, uncertain-significance, likely-benign, not-provided, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs104894021	G>C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121912504	G>A	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs121912505	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121912506	C>G,T	Pathogenic, not-provided, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs121912507	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121912508	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121912509	C>G,T	Pathogenic	Missense variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, stop gained
rs121912510	G>A	Pathogenic-likely-pathogenic, pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs121912511	T>G	Pathogenic, not-provided	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs121912512	C>T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs121912513	T>A,C,G	Pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912514	G>A,T	Pathogenic, not-provided	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs121912515	G>A,C,T	Uncertain-significance, pathogenic, not-provided	Missense variant, synonymous variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs121912516	C>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs138498207	G>A	Likely-benign, uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138776684	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs139544114	G>A,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs141117135	C>A,T	Likely-benign, pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant, stop gained
rs141401803	G>A	Not-provided, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs143011005	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs144338227	G>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs144926928	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs149955375	G>A	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 3 prime UTR variant, genic downstream transcript variant
rs189014161	G>A,C,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, stop gained
rs199472828	C>G,T	Likely-pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472833	A>C,G,T	Pathogenic, not-provided, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472835	C>A,G	Likely-pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472836	T>C	Pathogenic, not-provided, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472842	C>G,T	Likely-pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472844	G>A,T	Pathogenic, not-provided, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs199472845	C>A,T	Not-provided, pathogenic, uncertain-significance, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472847	T>C,G	Pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472854	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472855	C>A,T	Not-provided, pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472856	T>A,C	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs199472864	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs199472884	C>A,G	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant, genic upstream transcript variant
rs199472885	G>A	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472888	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199472893	A>C,G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472894	G>A,T	Likely-pathogenic, pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199472895	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472897	T>C,G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472900	G>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472902	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472905	G>A,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472906	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472910	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs199472911	T>A,C,G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472912	C>G,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199472916	G>A,T	Pathogenic, not-provided, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs199472918	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs199472921	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472924	A>G,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472926	C>A,G,T	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs199472928	T>C,G	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199472933	G>A,C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472934	T>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472936	C>A,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199472937	C>A,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472938	G>A	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199472941	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472942	A>C,G	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs199472944	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472946	T>C	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs199472948	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472951	A>G,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472953	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472956	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472957	T>A,C,G	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199472958	C>G,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472961	T>A,C	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199472968	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472970	G>C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472974	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472978	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199472979	G>A	Likely-pathogenic, pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199472983	A>G	Likely-pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199472986	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472988	G>A	Likely-pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199472989	C>A	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199472990	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs199472995	C>A	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs199472997	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199472999	A>C,G	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs199473000	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs199473001	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs199473002	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs199473004	T>C	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs199473005	C>A,T	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs199473006	G>A,C,T	Likely-pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs199473009	C>A,G,T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs199473011	C>T	Pathogenic, not-provided, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs199473012	G>C	Likely-pathogenic, not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs199473018	T>A	Pathogenic, not-provided	3 prime UTR variant, coding sequence variant, genic downstream transcript variant, missense variant
rs199473039	G>A,C,T	Pathogenic, not-provided, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs199473413	C>T	Likely-pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473417	A>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473419	T>C	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473420	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473421	G>A,C,T	Not-provided, pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473422	G>A,C	Not-provided, likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473423	C>A,G,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199473428	C>A,G,T	Pathogenic, likely-pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199473430	C>A,G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199473432	C>A,T	Not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs199473487	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473488	A>G,T	Pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473505	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs199473513	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473517	C>A,G,T	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs199473518	C>A,G,T	Not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs199473522	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473524	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473527	G>A,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199473529	A>C,G	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199473532	T>C	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs199473538	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs199473544	C>A,T	Not-provided, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs200799870	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs201268831	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs201627778	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs370637245	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs546898924	G>-	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, intron variant, frameshift variant
rs551056698	CGCCGCCCG>-,CGCCGCCCGCGCCGCCCG,CGCCGCCCGCGCCGCCCGCGCCGCCCG	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Inframe deletion, inframe insertion, coding sequence variant, genic upstream transcript variant
rs587777907	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs730880116	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs730880374	->C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs748706373	AG>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs749211387	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs755698372	G>A,T	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs759081373	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs761585108	G>A,C,T	Likely-benign, pathogenic	3 prime UTR variant, missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant, stop gained
rs761863251	G>-,GG	Uncertain-significance, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs764831888	G>A,C	Likely-benign, pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, synonymous variant
rs765427343	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs766379103	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs770047651	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, upstream transcript variant
rs771674303	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773724817	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs776595927	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained, 3 prime UTR variant
rs777831008	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs778135438	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs786204101	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs786205588	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728351	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs794728352	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs794728360	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs794728364	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs794728365	T>C	Pathogenic	Splice acceptor variant
rs794728366	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs794728368	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728369	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728370	A>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794728373	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728374	G>A	Pathogenic	Coding sequence variant, missense variant
rs794728375	C>T	Pathogenic	Splice acceptor variant
rs794728377	T>C	Pathogenic	Coding sequence variant, missense variant
rs794728378	T>C	Pathogenic	Coding sequence variant, missense variant
rs794728380	A>G	Pathogenic	Intron variant
rs794728381	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs794728382	G>A	Pathogenic	Coding sequence variant, stop gained
rs794728383	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728384	C>T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs794728385	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728386	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728387	A>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728389	G>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728390	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728391	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, splice donor variant
rs794728393	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs794728394	T>A	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs794728395	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs794728399	C>A,G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, stop gained, missense variant
rs794728401	C>G,T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, stop gained, missense variant
rs794728402	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, missense variant
rs794728403	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, stop gained
rs794728406	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs794728407	G>A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs794728408	C>T	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs794728409	C>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs794728410	G>A,C	Pathogenic	Upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs794728411	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs794728413	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs794728416	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs794728417	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs794728419	A>C	Pathogenic	Genic upstream transcript variant, splice donor variant
rs794728420	CCGC>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728422	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728423	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728424	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728425	->GGCGATGGGAGCTGGCCGGG	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728426	CGCG>GCTTTT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728427	CTCGATGTCGTCGGCCGAC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728428	TCGGCCG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728429	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728431	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs794728432	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794728433	->C	Pathogenic	Coding sequence variant, frameshift variant
rs794728434	->CAGG	Pathogenic	Coding sequence variant, frameshift variant
rs794728435	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728436	->G	Pathogenic	Coding sequence variant, frameshift variant
rs794728437	TAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs794728438	AGGGGATGGCGGCCACCATGTCGATGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs794728439	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728440	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs794728442	TCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs794728443	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728444	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728445	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728446	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728447	->GG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs794728448	CT>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs794728449	->GCCCC	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728450	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728451	C>-,CCC	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728453	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728454	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728455	C>-,CC	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728456	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728457	TCTCCCC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728458	->C	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728459	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs794728460	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728461	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728462	G>-,GG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs794728463	->GG	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop lost, frameshift variant
rs794728464	->CTGC	Pathogenic	Intron variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, splice acceptor variant
rs794728465	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728466	CCGGGGCCGCC>-,CCGGGGCCGCCCCGGGGCCGCC	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728467	->CCGCC,CGCC	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728468	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728469	C>-,CC,CCC,CCCC,CCCCC	Pathogenic, likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant, inframe insertion
rs794728470	->TCGCCCCG	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728471	ATCCAGCCTGCTCTCCAC>TG	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728472	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728473	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs794728475	->A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs794728476	->ATCTGCGCG	Pathogenic	Coding sequence variant, inframe insertion, genic upstream transcript variant, upstream transcript variant
rs794728477	C>G,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs794728478	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs794728480	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728481	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794728482	G>A	Pathogenic	Coding sequence variant, missense variant
rs794728483	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs794728484	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728485	T>A	Pathogenic	Coding sequence variant, missense variant
rs794728486	C>T	Pathogenic	Coding sequence variant, missense variant
rs794728487	C>T	Likely-pathogenic	Splice donor variant
rs794728488	T>G	Pathogenic	Splice acceptor variant
rs794728489	->CCAC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728493	G>A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs794728496	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794728497	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728498	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728499	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728500	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728501	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728502	GGCCC>-,GGCCCGGCCC	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs794728504	C>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, frameshift variant
rs794728506	C>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs794728507	C>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs794728508	A>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs796052195	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796052196	A>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs863224478	->AGCTTCAGGCGGAAGGTCTTGGCGCGGCC	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice acceptor variant
rs863225288	G>C	Pathogenic	Coding sequence variant, missense variant
rs864622174	G>-,GG	Pathogenic, likely-pathogenic	Genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, frameshift variant, coding sequence variant
rs864622309	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs869025447	->G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs869025448	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs878853771	G>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs886039043	C>G,T	Pathogenic	Splice donor variant
rs886039045	AGCGCGGC>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs886039064	A>G	Likely-pathogenic, uncertain-significance	Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs886039183	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs886039385	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs972201049	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1057517742	G>C,T	Uncertain-significance, pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs1057517743	C>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057517866	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518089	->A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057518151	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1057518169	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1057520477	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520558	G>C	Pathogenic	Stop gained, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant
rs1057520598	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057522921	C>A	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1057523338	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1057524595	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060500661	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060500662	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1060500670	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1064793146	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793147	C>T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1064793368	A>-	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1064793434	C>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1064793523	C>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1064793832	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793855	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794494	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1064794793	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1064795287	GG>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1064795855	C>-	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1064796584	CG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307620	TGCCA>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1085307943	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692183	->CCTGC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1131692327	TTCTC>-	Pathogenic	3 prime UTR variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1368439403	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1385959174	->CTGC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1399804251	->GTGTCC	Likely-pathogenic	Inframe insertion, coding sequence variant, genic downstream transcript variant
rs1554423863	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant
rs1554423871	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant
rs1554424042	->GTCGCCC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424044	TCGCCCCGGGGCCG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424060	->CCCCGGGGCCGCC	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424063	GCCGCCGACCCGGG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424070	CGCCGACCCGGGC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424079	->GC	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424083	->ACCCG	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424091	->ACCC	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424107	GG>CGGGAGACCC	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424138	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554424254	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554424390	CGGCCCCGGC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant
rs1554424403	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant
rs1554424620	GTGCGCC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554424671	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554424688	C>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs1554424772	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1554424829	CACAGTAGGT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554424849	CAGGCCTTGC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1554425146	CCATACCC>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant, frameshift variant
rs1554425149	C>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1554425226	ATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1554425277	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554425284	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554425320	CTG>TT	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554425486	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554425498	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554425527	->T	Pathogenic	Coding sequence variant, stop gained
rs1554425569	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554425724	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554425955	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554426219	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554426258	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554427317	GA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554427596	->TGGCG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554427692	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554427697	TCCG>ACT	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554427931	->CCGACCGC	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554427936	->ACCGCACC	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554427943	ACGACTCCCGGGCCGTCAGCGCCAG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554428170	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554428173	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554428178	GGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554428238	->CACATCC	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554430850	CC>AA	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1554430908	ATCTGCGCGGCAGCGCGGCGCTGCGTGCGCG>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554430943	C>T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1554430962	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554431441	->A	Pathogenic-likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1563148264	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant
rs1563152963	A>T	Pathogenic	Coding sequence variant, synonymous variant, splice donor variant
rs1563156725	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1563156868	G>C	Pathogenic	Coding sequence variant, stop gained
rs1563160541	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563161538	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563161565	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563169296	CCCTCACCGGTGCTGGCG>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, splice donor variant
rs1563189895	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs1563193513	CT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant
rs1584841841	CGGGCGG>-	Pathogenic	Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1584842898	AGGG>-	Pathogenic	Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1584843033	->G	Pathogenic	Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1584843078	->GGGC	Pathogenic	Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1584845045	->TCCCCCCA	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1584845263	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1584846819	T>GTGTCG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1584847173	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1584850710	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584852174	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584852351	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584855956	A>G	Pathogenic	Splice donor variant
rs1584856544	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584863723	G>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1584883087	CGATCTGCGCGGCAGCGCG>-,CGATCTGCGCGGCAGCGCGATCTGCGCGGCAGCGCG	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1584883377	GC>TT	Pathogenic	Stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584883517	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1584885912	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004831	hsa-miR-133a-3p	Luciferase reporter assayqRT-PCRWestern blot	17344217
MIRT004831	hsa-miR-133a-3p	Luciferase reporter assayqRT-PCRWestern blot	17344217
MIRT004832	hsa-miR-133b	Luciferase reporter assayqRT-PCRWestern blot	17344217
MIRT016707	hsa-miR-335-5p	Microarray	18185580
MIRT025630	hsa-miR-7-5p	Microarray	19073608
MIRT004832	hsa-miR-133b	Luciferase reporter assayqRT-PCRWestern blot	25355491
MIRT004832	hsa-miR-133b	Luciferase reporter assayqRT-PCRWestern blot	25355491
MIRT004831	hsa-miR-133a-3p	PAR-CLIP	26701625
MIRT004831	hsa-miR-133a-3p	PAR-CLIP	26701625
MIRT1081059	hsa-miR-3133	CLIP-seq
MIRT1081060	hsa-miR-4724-5p	CLIP-seq
MIRT1081061	hsa-miR-4766-5p	CLIP-seq
MIRT1081062	hsa-miR-1224-3p	CLIP-seq
MIRT1081063	hsa-miR-140-3p	CLIP-seq
MIRT1081064	hsa-miR-3144-5p	CLIP-seq
MIRT1081065	hsa-miR-4447	CLIP-seq
MIRT1081066	hsa-miR-4472	CLIP-seq
MIRT1081067	hsa-miR-4758-3p	CLIP-seq
MIRT2020093	hsa-miR-376a	CLIP-seq
MIRT2020094	hsa-miR-376b	CLIP-seq
MIRT2020095	hsa-miR-4310	CLIP-seq
MIRT2020096	hsa-miR-4795-3p	CLIP-seq
MIRT2020097	hsa-miR-664	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP1	Unknown	17311278

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	31146003
GO:0003064	Process	Regulation of heart rate by hormone	TAS	11953308
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	9765245, 18559421
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	7604285, 8587608, 9230439, 9351446, 9765245, 10790218, 12063277, 18559421, 19412172, 26363003
GO:0005242	Function	Inward rectifier potassium channel activity	IMP	14525949
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	11953308, 21063088, 28280240
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	7736582
GO:0005251	Function	Delayed rectifier potassium channel activity	IGI	25281747
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	9230439, 11953308, 16361248, 18923542, 25281747, 26363003, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21463633
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	25281747
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	9230439, 26363003
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	7604285, 7736582, 8587608
GO:0008076	Component	Voltage-gated potassium channel complex	IMP	25281747
GO:0009986	Component	Cell surface	IDA	21536673
GO:0016020	Component	Membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	21463633
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	8587608, 21463633
GO:0042802	Function	Identical protein binding	IPI	8995352, 24931372
GO:0042803	Function	Protein homodimerization activity	IPI	8995352
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	31146003
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	25281747
GO:0055075	Process	Potassium ion homeostasis	IDA	7604285, 8587608
GO:0055085	Process	Transmembrane transport	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	21536673
GO:0060306	Process	Regulation of membrane repolarization	IDA	7736582, 21463633
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	21536673
GO:0071466	Process	Cellular response to xenobiotic stimulus	IDA	7604285
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	7604285, 7736582, 8587608, 11953308, 21063088
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	21536673
GO:0086009	Process	Membrane repolarization	IMP	14525949
GO:0086010	Process	Membrane depolarization during action potential	IDA	7604285
GO:0086011	Process	Membrane repolarization during action potential	IDA	7736582, 11953308, 21463633
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IBA
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IMP	21536673
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	7889573
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	21536673
GO:0097110	Function	Scaffold protein binding	IPI	18923542
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	7604285
GO:0097623	Process	Potassium ion export across plasma membrane	IGI	25281747
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	21536673
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	11953308
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	IDA	7604285, 8587608
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	7736582
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	21536673
GO:1902937	Component	Inward rectifier potassium channel complex	IMP	14525949
GO:1903765	Process	Negative regulation of potassium ion export across plasma membrane	IDA	7604285, 8587608
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	7604285

MIM	HGNC	e!Ensembl
152427	6251	ENSG00000055118

Q12809

Protein name

Voltage-gated inwardly rectifying potassium channel KCNH2 (Eag homolog) (Ether-a-go-go-related gene potassium channel 1) (ERG-1) (Eag-related protein 1) (Ether-a-go-go-related protein 1) (H-ERG) (hERG-1) (hERG1) (Potassium voltage-gated channel subfamily

Protein function

Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel (PubMed:10219239, PubMed:10753933, PubMed:10790218, PubMed:10837251, PubMed:11997281, PubMed:12063277, PubMed:18559421, PubMed:22314138, PubMed:22359612, PubMed:

PDB

1BYW , 1UJL , 2L0W , 2L1M , 2L4R , 2LE7 , 2N7G , 4HP9 , 4HQA , 5VA1 , 5VA2 , 5VA3 , 6SYG , 8IO4 , 8IO5 , 8IOB , 8ZYN , 8ZYO , 8ZYP , 8ZYQ , 9CHP , 9CHQ , 9CHR , 9CHS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13426	PAS_9	29 → 131	PAS domain	Domain
PF00520	Ion_trans	407 → 671	Ion transport protein	Family
PF00027	cNMP_binding	760 → 845	Cyclic nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells. {ECO:0000269|PubMed:18559421}.

Sequence

MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVM
QRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDG
AVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRAKTFRLKLPALLALTARESSV
RSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSP
PRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPP
RHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIA
PKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIY
TAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANE
EVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLD
RYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSS
GLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVS
AIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGF
PECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALY
FISRGSIEILRGDVVVAILGKNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLE
VLDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRKLSFRRRTDKDTE
QPGEVSALGPGRAGAGPSSRGRPGGPWGESPSSGPSSPESSEDEGPGRSSSPLRLVPFSS
PRPPGEPPGGEPLMEDCEKSSDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPRCPAPTP
SLLNIPLSSPGRRPRGDVESRLDALQRQLNRLETRLSADMATVLQLLQRQMTLVPPAYSA
VTTPGPGPTSTSPLLPVSPLPTLTLDSLSQVSQFMACEELPPGAPELPQEGPTRRLSLPG
QLGALTSQPLHRHGSDPGS

Sequence length

1159

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels Phase 3 - rapid repolarisation

5512

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Pathogenic	rs9333649	RCV004813051
Cardiac arrhythmia	Likely pathogenic; Pathogenic	rs794728455, rs552583527, rs2116931511, rs794728406, rs2116928557, rs2116963916, rs794728472, rs794728470, rs794728467, rs794728465, rs794728401, rs794728464, rs748706373, rs794728457, rs794728458 View all (33 more)	RCV003591864 RCV004770140 RCV001842028 RCV001842092 RCV004699552 RCV003591901 RCV001842856 RCV001842855 RCV001842854 RCV001842853 RCV001842834 RCV001842851 RCV001842852 RCV001842849 RCV001842850 RCV001842848 RCV001842847 RCV005401362 RCV001842862 RCV001842861 RCV001842846 RCV001842860 RCV001842824 RCV001842845 RCV001842844 RCV001842843 RCV001842858 RCV001842865 RCV001842864 RCV001842863 RCV003404924 RCV003592251 RCV003592261 RCV003492296 RCV005402798 RCV003591634 RCV005402799 RCV001841397 RCV001841394 RCV002282358 RCV001841702 RCV003591658 RCV005402842 RCV001841704 RCV005402843 RCV001841706 RCV001841710 RCV001842618 RCV001841113 RCV001841180
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2116928626, rs794728455, rs2117072537, rs2116933379, rs199472971, rs2117011733, rs2117062748, rs2486004220, rs189014161, rs730880116, rs2486100894, rs2486003255, rs2486099963, rs2486099939, rs2486094162 View all (135 more)	RCV004629627 RCV004037687 RCV004039473 RCV002440826 RCV002407094 RCV002331533 RCV005585030 RCV002325818 RCV000617781 RCV002362837 RCV002375537 RCV002320644 RCV002342559 RCV002342606 RCV002344740 RCV002430434 RCV002373704 RCV002378873 RCV002380296 RCV002376138 RCV002403820 RCV002407491 RCV002396513 RCV002432922 RCV002421596 RCV002421803 RCV002430615 RCV002457824 RCV002425968 RCV002446219 RCV002453022 RCV002439516 RCV002431345 RCV002437505 RCV002437519 RCV002438070 RCV002444335 RCV002437962 RCV002321716 RCV002321718 RCV000618925 RCV005582267 RCV002321717 RCV004992061 RCV002433796 RCV000254145 RCV002433800 RCV002433799 RCV000249424 RCV003165389 RCV002426875 RCV002426874 RCV006342153 RCV003298232 RCV002408793 RCV005652336 RCV002408790 RCV002408792 RCV000620895 RCV002399647 RCV002408791 RCV005404345 RCV002453654 RCV000618780 RCV002453650 RCV002390453 RCV002345630 RCV000619865 RCV002433801 RCV005405942 RCV004085210 RCV000621802 RCV002453742 RCV005400714 RCV003177767 RCV000246773 RCV000243747 RCV000244733 RCV002429194 RCV003311171 RCV004992606 RCV000620827 RCV000254122 RCV002408467 RCV002399326 RCV002390110 RCV002426506 RCV005348058 RCV004991976 RCV004991977 RCV004522840 RCV004522845 RCV004522846 RCV002348126 RCV002408476 RCV004992258 RCV003168953 RCV004992268 RCV003343878 RCV002323918 RCV000586952 RCV002331026 RCV000618028 RCV000621866 RCV000621471 RCV000621521 RCV000619327 RCV000620946 RCV000621911 RCV000620830 RCV000619391 RCV000620578 RCV000620115 RCV000618256 RCV000621580 RCV000617574 RCV000620812 RCV000619294 RCV000618350 RCV005404763 RCV005404761 RCV002438652 RCV002424749 RCV002325484 RCV003362938 RCV002442727 RCV002440737 RCV002390696 RCV002390207 RCV000618688 RCV002399419 RCV004992004 RCV002399420 RCV000248595 RCV000619406 RCV000244156 RCV002399422 RCV000619615 RCV005403748 RCV000618627 RCV000619597 RCV002408563 RCV000244892 RCV002408565 RCV005403749 RCV000621397 RCV000617489 RCV000621327 RCV002415513 RCV000588659 RCV002415514 RCV000621587 RCV000621445 RCV000618449 RCV002433554 RCV003353145 RCV005367691 RCV003163386 RCV002429839 RCV003293979 RCV005628304
Congenital long QT syndrome	Likely pathogenic; Pathogenic	rs1563169382, rs2116960827, rs189014161, rs794728403, rs794728449, rs773724817, rs121912504, rs121912505, rs28928904, rs121912506, rs121912507, rs121912508, rs9333649, rs28928905, rs121912510 View all (83 more)	RCV004017835 RCV002272823 RCV004017439 RCV004017459 RCV004017460 RCV004017486 RCV000057941 RCV000057902 RCV000057986 RCV000058125 RCV000058029 RCV000057970 RCV000057960 RCV000057910 RCV000058123 RCV000058063 RCV000058100 RCV000057935 RCV004018333 RCV004018336 RCV004018343 RCV004018345 RCV004018347 RCV004018360 RCV004018362 RCV000058010 RCV000058006 RCV000826169 RCV000057881 RCV000057884 RCV000057889 RCV000057903 RCV000057906 RCV000057915 RCV000057917 RCV000057919 RCV000057924 RCV000057926 RCV000057928 RCV000057929 RCV000057934 RCV000057936 RCV000057938 RCV000057939 RCV000057940 RCV000057942 RCV000057943 RCV000057954 RCV000057959 RCV000057963 RCV000057966 RCV000057969 RCV000057971 RCV000057974 RCV000057983 RCV000057984 RCV000057990 RCV000057993 RCV000057995 RCV000057997 RCV000057999 RCV000058002 RCV000058007 RCV000058009 RCV000058011 RCV000058013 RCV000058017 RCV000058020 RCV000058022 RCV000058027 RCV000058028 RCV000058032 RCV000058033 RCV000058034 RCV000058036 RCV000058040 RCV000058042 RCV000058048 RCV000058055 RCV000058056 RCV000058060 RCV000058072 RCV000058078 RCV000058083 RCV000058086 RCV000058088 RCV000058089 RCV000058090 RCV000058091 RCV000058099 RCV000058106 RCV000058110 RCV000058118 RCV000058119 RCV000058126 RCV000058127 RCV000058129 RCV000058130 RCV000058131 RCV000058138 RCV000058143 RCV000058185 RCV000058211 RCV000058230 RCV000058261 RCV000058267 RCV000058272 RCV000058273 RCV000058274
Hypertrophic cardiomyopathy 26	Pathogenic	rs1801002279	RCV005000622
KCNH2-related disorder	Pathogenic; Likely pathogenic	rs2486090632, rs121912507, rs199473428, rs199472961	RCV003335862 RCV004549371 RCV005250010 RCV004549483
Long QT syndrome	Likely pathogenic; Pathogenic	rs1801084514, rs2116960605, rs2116960647, rs2117072529, rs1064795855, rs2116928626, rs2116928723, rs2116928923, rs794728455, rs2116937449, rs2116937619, rs2116940243, rs2116962569, rs2116969765, rs2116998812 View all (331 more)	RCV001327902 RCV001368062 RCV001377273 RCV001377644 RCV001390113 RCV001387551 RCV001384658 RCV001382731 RCV001387552 RCV001390484 RCV001385331 RCV001380683 RCV001382759 RCV001381096 RCV001385615 RCV001391025 RCV001390279 RCV003649120 RCV001382699 RCV001381148 RCV001382272 RCV005094770 RCV002541373 RCV002542466 RCV001959494 RCV001958050 RCV001924072 RCV001966263 RCV001999892 RCV001930524 RCV002013166 RCV001972696 RCV001926318 RCV001915043 RCV002037745 RCV001897561 RCV001906199 RCV002007506 RCV001939537 RCV002031214 RCV002002532 RCV001970216 RCV001951070 RCV002031801 RCV001946622 RCV001970040 RCV001903743 RCV001918206 RCV001975050 RCV001956514 RCV001955020 RCV001969463 RCV001914086 RCV001988461 RCV001916343 RCV000473013 RCV000545572 RCV003096387 RCV003097385 RCV003101082 RCV003647935 RCV003533266 RCV005098328 RCV003102844 RCV000168023 RCV003775509 RCV003037267 RCV003037269 RCV003037272 RCV001240040 RCV000231614 RCV000702086 RCV000469782 RCV000809575 RCV000463445 RCV003532024 RCV000204945 RCV000461198 RCV000228852 RCV001389519 RCV000471453 RCV005089906 RCV001038920 RCV001852298 RCV000698798 RCV000631582 RCV001067773 RCV000204205 RCV000631709 RCV000703830 RCV004806173 RCV001852292 RCV003647755 RCV001035147 RCV000227185 RCV005055678 RCV000456814 RCV001385333 RCV003532026 RCV000631682 RCV000531749 RCV003647757 RCV002516846 RCV002516852 RCV001233303 RCV000706917 RCV001852291 RCV000200566 RCV001039878 RCV005089905 RCV001852295 RCV001852294 RCV002517775 RCV000232953 RCV001385719 RCV001382671 RCV001223471 RCV001388962 RCV003647758 RCV000461590 RCV001236747 RCV000796540 RCV001382672 RCV001064849 RCV001379136 RCV002516851 RCV002716891 RCV002727196 RCV000190216 RCV002806746 RCV002806754 RCV002824819 RCV002856348 RCV002851438 RCV002881674 RCV002857957 RCV002876682 RCV002917679 RCV002914134 RCV002938185 RCV002923698 RCV000198392 RCV002975472 RCV002988753 RCV003005079 RCV003013867 RCV003018064 RCV003055869 RCV003043083 RCV003025370 RCV003049806 RCV003044581 RCV003064014 RCV005099553 RCV000204772 RCV000204955 RCV000203902 RCV000228054 RCV003126316 RCV003647951 RCV002518733 RCV000477020 RCV003318461 RCV003533954 RCV003533890 RCV003534282 RCV003531441 RCV003531684 RCV003531704 RCV003531545 RCV003531547 RCV003531548 RCV003531812 RCV003531858 RCV003531887 RCV003531706 RCV003531749 RCV003531741 RCV003531792 RCV003531867 RCV003532509 RCV003532404 RCV003532535 RCV004011468 RCV000229360 RCV001851874 RCV000806677 RCV005089262 RCV000822422 RCV000537059 RCV000703745 RCV001207958 RCV000631649 RCV000148536 RCV003531902 RCV003647287 RCV003647700 RCV003647711 RCV003648258 RCV003648363 RCV003648353 RCV003648567 RCV003648709 RCV003648968 RCV004012653 RCV004015833 RCV005100693 RCV004556983 RCV001378550 RCV003766147 RCV003532092 RCV000473168 RCV000686182 RCV000804954 RCV000460573 RCV000462085 RCV000461875 RCV000470097 RCV000477231 RCV000475107 RCV000457192 RCV001054801 RCV000807642 RCV000631681 RCV001387858 RCV001379769 RCV001239959 RCV005208609 RCV001856987 RCV003532150 RCV000529822 RCV000548632 RCV000544925 RCV000544265 RCV000558952 RCV000554266 RCV000529646 RCV000558185 RCV000530429 RCV000543030 RCV001385332 RCV000631596 RCV001854120 RCV000631615 RCV001389496 RCV000697157 RCV001868112 RCV002531800 RCV005091772 RCV002531773 RCV002531769 RCV000631556 RCV001234823 RCV001860384 RCV001381540 RCV000631602 RCV000631645 RCV000631581 RCV000631592 RCV000631554 RCV000631644 RCV000693704 RCV000702790 RCV000688235 RCV000691355 RCV000705565 RCV000685357 RCV000706331 RCV005092162 RCV002533838 RCV001390278 RCV000780361 RCV001043963 RCV001873230 RCV000814464 RCV000817168 RCV000809086 RCV000821899 RCV000792958 RCV000802739 RCV000807762 RCV000794775 RCV000821345 RCV000799458 RCV001858417 RCV001858519 RCV003531951 RCV000823889 RCV001207034 RCV000467289 RCV000470519 RCV000543570 RCV001854196 RCV000462413 RCV001390277 RCV002513753 RCV000544355 RCV000689953 RCV000631548 RCV003531953 RCV000472868 RCV001377677 RCV000470290 RCV000557658 RCV000168208 RCV000233419 RCV000205578 RCV003531955 RCV000526585 RCV000190215 RCV000527495 RCV000157265 RCV001376739 RCV001208803 RCV003531956 RCV002513755 RCV005089476 RCV000475088 RCV000781486 RCV001854201 RCV000799027 RCV000691309 RCV000803218 RCV000468503 RCV000460303 RCV001194446 RCV000463612 RCV000464288 RCV002513759 RCV000458802 RCV000631584 RCV003531958 RCV000474113 RCV000234770 RCV000631627 RCV000469039 RCV001040354 RCV002514290 RCV001068013 RCV000198797 RCV000229643 RCV000999583 RCV001063183 RCV001039033 RCV001071824 RCV001064310 RCV001049863 RCV001055510 RCV001064080 RCV001036510 RCV001055078 RCV001070384 RCV001383848 RCV001218782 RCV001221208 RCV001213882 RCV001206303 RCV001206145 RCV001210923 RCV001213328 RCV001213523 RCV001208821 RCV001202715 RCV001204876 RCV001232026 RCV001229148 RCV001234017 RCV001228604 RCV001248443 RCV001243526 RCV001254742 RCV001254732
Long QT syndrome 1	Pathogenic	rs121912506	RCV000509399
Long QT syndrome 1/2, digenic	Pathogenic; Likely pathogenic	rs794728455, rs1554424772	RCV000015521 RCV000015519
Long QT syndrome 2	Likely pathogenic; Pathogenic	rs1801084514, rs2116941701, rs2116997026, rs552583527, rs760584131, rs199472848, rs794728419, rs2117011793, rs2116933842, rs1584856497, rs2116933757, rs2116964263, rs2117011952, rs2117063981, rs1554425149 View all (111 more)	RCV002285475 RCV001726510 RCV001726532 RCV002471107 RCV001534616 RCV002471123 RCV001802757 RCV001823315 RCV004594608 RCV002086730 RCV002074455 RCV002208753 RCV002244291 RCV002244292 RCV002302843 RCV000157266 RCV000157260 RCV000157258 RCV003485546 RCV002471363 RCV002471651 RCV003395570 RCV005001986 RCV002272162 RCV001089526 RCV002470798 RCV000015520 RCV004760419 RCV000515716 RCV000015503 RCV000763170 RCV001248785 RCV003314572 RCV000015506 RCV002298508 RCV003327377 RCV000678912 RCV000208221 RCV001248792 RCV000202321 RCV003485562 RCV000208076 RCV000208164 RCV000208523 RCV003148398 RCV002463670 RCV000258955 RCV003328080 RCV003448552 RCV003484240 RCV004999966 RCV000015501 RCV000015502 RCV000015504 RCV000015505 RCV000015507 RCV000015508 RCV000015509 RCV000015510 RCV000709729 RCV000015512 RCV000015513 RCV000015515 RCV000015516 RCV000015528 RCV003988816 RCV003991173 RCV003992141 RCV004586467 RCV004594718 RCV004594719 RCV004594834 RCV004595410 RCV003322603 RCV000022643 RCV000022644 RCV000498932 RCV000497898 RCV000495854 RCV000495991 RCV002470890 RCV000515684 RCV000988003 RCV005034195 RCV001258355 RCV000624163 RCV000678915 RCV000678933 RCV000735251 RCV001248796 RCV000790443 RCV000991329 RCV000853604 RCV000853607 RCV000853608 RCV000857230 RCV006249580 RCV000208055 RCV002468562 RCV000678923 RCV000157264 RCV000208241 RCV001258357 RCV002470744 RCV006249581 RCV000240640 RCV000678941 RCV000678919 RCV000234804 RCV000851290 RCV002470746 RCV001258077 RCV005623066 RCV000208316 RCV005042177 RCV000240628 RCV000677334 RCV001248786 RCV000157261 RCV001089533 RCV001730750 RCV001089521 RCV001089534 RCV003485690 RCV001248798 RCV001248797 RCV004594257 RCV001258354 RCV001262923
Long QT syndrome, bradycardia-induced	Likely pathogenic; Pathogenic	rs28928905	RCV000015511
Obesity	Likely pathogenic; Pathogenic	rs121912504	RCV000626630
Ovarian serous cystadenocarcinoma	Pathogenic	rs1137617	RCV005892104
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs199472948	RCV000845307
Prolonged QT interval	Likely pathogenic; Pathogenic	rs1405113457, rs121912504	RCV001815634 RCV000626630
Short QT syndrome	Likely pathogenic; Pathogenic	rs104894021, rs199472947	RCV000057981 RCV000057980 RCV000058015
Short QT syndrome type 1	Pathogenic; Likely pathogenic	rs2116964263, rs794728504, rs748706373, rs794728382, rs121912504, rs121912507, rs104894021, rs1554423871, rs199472837, rs199473490, rs199473428, rs199473524, rs199472957, rs199472999, rs199472851	RCV002208753 RCV003227699 RCV003227698 RCV000763170 RCV004562210 RCV004558262 RCV000015517 RCV000015518 RCV005034195 RCV002247455 RCV002247456 RCV000477917 RCV001196417 RCV000763171 RCV005042177 RCV002247458

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acquired long QT syndrome	not provided; Conflicting classifications of pathogenicity	rs199472889, rs199472985, rs199473534	RCV000057869 RCV000058085 RCV000058102
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	rs199473025	RCV000143906
Atrial fibrillation	Benign	rs1805123	RCV000171815
Brugada syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	rs12720441, rs41314354	RCV000208497 RCV000171755
Brugada syndrome 1	Uncertain significance; Conflicting classifications of pathogenicity	rs763031434, rs1060500663, rs138498207	RCV000498950 RCV003328583 RCV001778698
Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance	rs146570628	RCV000157270
Colon adenocarcinoma	Likely benign	rs759887868	RCV005897374
Conduction disorder of the heart	Conflicting classifications of pathogenicity	rs139544114	RCV001256843
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs1057518876, rs1346047270, rs1220897906, rs199472864	RCV000415129 RCV000498076 RCV000497547 RCV000853031
Long QT syndrome 2/3, digenic	Conflicting classifications of pathogenicity	rs121912515	RCV000015525
Long QT syndrome 2/5, digenic	Uncertain significance	rs121912513	RCV000015523
Long QT syndrome 2/9, digenic	Conflicting classifications of pathogenicity	rs77331749	RCV000015527
Malignant tumor of esophagus	Likely benign	rs41311015	RCV005904218
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs199473025	RCV000143907
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs199473012	RCV006250248
Progressive familial heart block	Uncertain significance	rs1296505812	RCV006249389
Reclassified - variant of unknown significance	Conflicting classifications of pathogenicity	rs12720441	RCV004720231
Sarcoma	Likely benign	rs41311015	RCV005904219
Sudden cardiac arrest	Uncertain significance	rs768519164	RCV001254768
Sudden cardiac death	not provided	rs199473493	RCV000058117
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity; Uncertain significance	rs199473434, rs141401803, rs199473024, rs143167166, rs199472877, rs199472879, rs199473549	RCV000058151 RCV000058171 RCV000058200 RCV000058228 RCV000058260 RCV000058263 RCV000058268
Sudden unexplained death	Uncertain significance; Conflicting classifications of pathogenicity	rs794728398, rs36210421	RCV000853468 RCV000172896
Torsades de pointes	Conflicting classifications of pathogenicity	rs36210421	RCV000171814
Ventricular fibrillation, paroxysmal familial, type 1	Likely benign	rs146570628	RCV000157271
Ventricular tachycardia	Uncertain significance	rs730880119, rs869025445	RCV000157269 RCV000208037
Wolff-Parkinson-White pattern	Uncertain significance	rs539146547, rs1338579153	RCV000656151 RCV000656204

Show/Hide Text Mining Associations (128)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis	Inhibit	31882846
Andersen Syndrome	Associate	26109178, 28336205, 32843460
Aortic Aneurysm Thoracic	Associate	31573043
Arrhythmias Cardiac	Associate	12771193, 16565572, 18059314, 18192214, 18362022, 18551196, 19032804, 19528813, 20547678, 20809527, 21135103, 21158687, 21573751, 21951015, 22124116 View all (27 more)
Astrocytoma	Associate	16175187
Atrial Fibrillation	Associate	18452873, 24460807, 32715669, 33990324, 35114584
Atrioventricular Block	Associate	10841244, 14998624, 18848812
Autosomal Recessive Primary Microcephaly	Associate	32048431
Breast Neoplasms	Associate	25596745, 25945833, 31659098
Brugada Syndrome	Associate	27707468, 29672598, 32048431, 36197721, 36303204
Burkitt Lymphoma	Stimulate	11893742
Carcinogenesis	Associate	34801551, 36792990
Carcinoma Hepatocellular	Associate	27069917, 29271183, 36714595, 36792990
Carcinoma Pancreatic Ductal	Associate	22797009
Cardiomyopathies	Associate	22382559
Cardiomyopathy Dilated	Associate	29071820
Cardiotoxicity	Associate	21131594, 21362439, 21902220, 23473737, 26526230, 28967302, 34871422
Cardiovascular Diseases	Associate	22821100
Channelopathies	Associate	29544605, 33176122, 35543671, 35932045
Cholangiocarcinoma	Associate	29271183
Chromosome Inversion	Associate	39394151
Colorectal Neoplasms	Associate	31218953, 32123164, 36215066
Conduct Disorder	Associate	14998624
COVID 19	Associate	37231805
Death	Associate	29855564
Death Sudden	Associate	12442276, 17222736, 18808722, 23899126, 26152716, 26229434, 26846766, 30175559, 34502138, 35114584, 36496073, 39454535
Death Sudden Cardiac	Associate	15120823, 17876385, 18441445, 21158687, 21951015, 23651034, 25140878, 29622001, 29759541, 32973354, 34058320, 34319147, 35688148, 35932045, 37419691, 37702700, 8995352 View all (2 more)
Depressive Disorder	Associate	24356123
Diabetes Mellitus	Inhibit	26303164, 28804970
Diabetic Nephropathies	Associate	32922187
Drug Resistant Epilepsy	Associate	34481479
Early Onset Glaucoma	Associate	30481776
Encephalitis Herpes Simplex	Associate	18551196, 23277474, 26271031, 9694858
Endometrial Neoplasms	Associate	11104572
Endplate Acetylcholinesterase Deficiency	Associate	16565572
Epilepsy	Associate	23899126, 26847485
Essential Hypertension	Associate	23613831
Fetal Death	Associate	23571586, 26772437
Fetal Diseases	Associate	18362022
Fever	Associate	18551196, 37386841
Gastrointestinal Neoplasms	Associate	36215066
Gastroschisis	Associate	27616475
Genetic Diseases Inborn	Associate	29907571, 32715669, 32973354
Glioblastoma	Associate	16175187, 24516604, 33040444, 36792990
Glioma	Associate	16175187
Head and Neck Neoplasms	Associate	22460808
Heart Arrest	Associate	18441445, 24152733, 28336205, 29752375, 34357002
Heart Diseases	Associate	10841244, 12442276, 22052944, 26772437, 28336205, 30628647, 34058320, 35114584, 9753711
Heart Failure	Associate	22382559, 23473737
Hyperglycemia	Inhibit	12531891
Hyperlipoproteinemia Type II	Associate	31361068
Hypoglycemia	Associate	10841244, 29548277
Hypoglycemia	Inhibit	12531891
Hypokalemia	Associate	21951015, 24419801
Hypomagnesemia primary	Associate	18060054
Hypotension	Associate	23613831
Hypothyroidism	Associate	27535653
Hypoxia	Inhibit	31017964, 35840042
Immunologic Deficiency Syndromes	Associate	12354768, 32253972
Isolated Noncompaction of the Ventricular Myocardium	Associate	19352046
Laryngeal Neoplasms	Stimulate	22460808
Laryngitis	Associate	22460808
Leukemia	Associate	15800067, 18559421, 21669058, 24386436
Leukemia Lymphocytic Chronic B Cell	Stimulate	11893742
Leukemia Myeloid Acute	Associate	17420287
Li Fraumeni Syndrome	Associate	32321643
Long QT Syndrome	Associate	10483966, 10531299, 10841244, 10987356, 11844290, 12354768, 12442276, 12736279, 12771193, 12808265, 12837749, 12839862, 12849668, 14642687, 14975928 View all (235 more)
Long QT Syndrome	Inhibit	14975928, 22046004
Long Qt Syndrome 2	Associate	10531299, 12808265, 12837749, 14975928, 15364333, 15760896, 17569659, 18441445, 18984536, 19029296, 19038855, 19694797, 20931094, 21315844, 21440677 View all (27 more)
Long Qt Syndrome 5	Associate	21712262
Long QT syndrome type 3	Associate	23571586, 34628246
Lymphatic Metastasis	Stimulate	22460808
Lymphedema	Associate	12837749
Lymphoma	Associate	24260260
Lymphoma B Cell	Associate	24260260
Malaria	Associate	38546223
Muscle Weakness	Associate	28336205
Myelodysplastic Syndromes	Associate	27077769
Neoplasm Metastasis	Stimulate	22460808
Neoplasms	Associate	11104572, 12431979, 15846098, 16175187, 17420287, 18559421, 19244476, 22075718, 22460808, 22797009, 24260260, 24516604, 25596745, 25945833, 26625122 View all (8 more)
Neoplasms	Stimulate	11893742
Neoplastic Syndromes Hereditary	Associate	20931094, 25914329, 29907571
Neuroblastoma	Associate	11080495, 15800067, 18559421, 18953086
Neurologic Manifestations	Associate	34582124
Obesity	Associate	24937480
Ototoxicity	Inhibit	34398210
Ovarian Neoplasms	Associate	23571109
Pancreatic Neoplasms	Associate	22797009, 27013874
Paralyses Familial Periodic	Associate	28336205
Paroxysmal ventricular fibrillation	Associate	21216356
Polypoidal Choroidal Vasculopathy	Associate	39595626
Post Acute COVID 19 Syndrome	Associate	21185499, 22396785, 25987402, 29071820, 38446445, 8996300
Potassium aggravated myotonia	Associate	21483829
Potassium Deficiency	Stimulate	31347753
Precancerous Conditions	Associate	36215066
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	27536776
Prostatic Neoplasms	Associate	25866772
Psychotic Disorders	Associate	20507645
Respiratory Distress Syndrome	Associate	16720674
Retinal Dysplasia	Stimulate	22460808
Retinoblastoma	Associate	20860824
Romano Ward Syndrome	Associate	21831960, 22949429, 25082577, 27816319, 28264985
Schizophrenia	Associate	20507645
Seizures	Associate	19668779, 27466471, 29672598
Short QT Syndrome 1	Associate	15673388, 16565572, 19340359, 19501051, 21798421, 23300672, 25335996, 28632743, 29574456, 29759541, 30175559, 31072576, 34557911, 35114584, 36252106, 36333337, 37579942, 38547667 View all (3 more)
Short QT Syndrome 2	Associate	35114584
SHORT syndrome	Associate	29016797
Sinoatrial Block	Associate	34755423
Sinus Arrest Cardiac	Associate	34755423
Sleep Apnea Obstructive	Associate	27543307
Small Cell Lung Carcinoma	Associate	22075718
Squamous Cell Carcinoma of Head and Neck	Associate	22460808, 26785772
Stomach Neoplasms	Associate	15846098
Storm Syndrome	Associate	39394151
Strabismus	Associate	33435129
Sudden Infant Death	Associate	14975928, 18060054, 29544605, 29752375
Sudden Unexpected Death in Epilepsy	Associate	20875080, 23098067
Syncope	Associate	10987356, 12442276, 15090700, 15973763, 18441445, 18984536, 19057127, 21496174, 21831960, 22382559, 25914329, 26847485, 27816319, 28336205, 29672598 View all (6 more)
Syndrome	Associate	24015048, 24152733
Systemic carnitine deficiency	Associate	24667783
Tachycardia Ventricular	Associate	15673388, 18551196, 18808722, 18848812, 25191697, 26109178
Thyroid Carcinoma Anaplastic	Associate	23569377
Torsades de Pointes	Associate	16720674, 17993325, 18059314, 18808722, 18984536, 19352046, 22338672, 22382559, 23812503, 25819988, 26229434, 28431243, 29297274, 31347753, 37386841, 39394151, 7889573 View all (2 more)
Turner Syndrome	Associate	23936059
Unconsciousness	Associate	26109178
Ventricular Dysfunction	Associate	28336205
Ventricular Fibrillation	Associate	18551196, 18848812, 21483829, 24356123, 24427266, 34755423, 35114584, 38546223
Ventricular Premature Complexes	Associate	26109178

KCNH2 (potassium voltage-gated channel subfamily H member 2)