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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3757
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium voltage-gated channel subfamily H member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNH2
Synonyms (NCBI Gene) Gene synonyms aliases	ERG-1, ERG1, H-ERG, HERG, HERG1, Kv11.1, LQT2, SQT1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q36.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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 assay, qRT-PCR, Western blot	17344217
MIRT004831	hsa-miR-133a-3p	Luciferase reporter assay, qRT-PCR, Western blot	17344217
MIRT004832	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	17344217
MIRT016707	hsa-miR-335-5p	Microarray	18185580
MIRT025630	hsa-miR-7-5p	Microarray	19073608
MIRT004832	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	25355491
MIRT004832	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western 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

Transcription factors

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cardiac arrhythmia	Cardiac arrhythmia	rs794728497, rs121912504, rs199472990, rs794728465, rs794728428, rs794728382, rs748706373, rs1554424044, rs794728499, rs794728489, rs28928905, rs794728462, rs199473428, rs794728472, rs794728426 View all (23 more)	N/A
Congenital Long QT Syndrome	congenital long qt syndrome	rs199472845, rs199473002, rs121912516, rs199472971, rs199473495, rs199472884, rs199473420, rs121912511, rs41307295, rs199473491, rs773724817, rs199473005, rs199472945, rs199472953, rs199473490 View all (73 more)	N/A
Long QT Syndrome	long qt syndrome 2, long qt syndrome, Long QT syndrome 1/2, digenic, long qt syndrome 1	rs794728467, rs1057517743, rs1801462423, rs794728427, rs761863251, rs1563160541, rs794728391, rs1554424062, rs1554426258, rs199473524, rs199472950, rs748706373, rs199472926, rs1554424044, rs199473428 View all (224 more)	N/A
Short QT Syndrome	Short QT syndrome type 1, short qt syndrome	rs199473490, rs199473428, rs121912507, rs199472947, rs104894021, rs199472837, rs199473524, rs199472851, rs121912504	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 26, Primary familial hypertrophic cardiomyopathy	rs1801002279, rs199472948	N/A

Show/Hide Unknown Diseases (12)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
Atrial Fibrillation	atrial fibrillation, Atrial fibrillation	N/A	N/A	ClinVar, GWAS
Brugada Syndrome	brugada syndrome 1, brugada syndrome	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Catecholaminergic Polymorphic Ventricular Tachycardia	Catecholaminergic polymorphic ventricular tachycardia 1	N/A	N/A	ClinVar
Conduction Disorder Of The Heart	conduction disorder of the heart	N/A	N/A	ClinVar
Gout	Gout	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Torsades de Pointes	torsades de pointes	N/A	N/A	ClinVar
Ventricular Fibrillation	Ventricular fibrillation, paroxysmal familial, type 1	N/A	N/A	ClinVar
ventricular tachycardia	Ventricular tachycardia	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (128)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)