先天性QT延長症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)	KCNH2	Pathogenic	7	150644479	150644753	C	CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA	criteria provided, single submitter	ClinGen:CA645372846
single nucleotide variant	NM_000238.4(KCNH2):c.1557+1G>C	KCNH2	Pathogenic/Likely pathogenic	7	150649512	150649512	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA369859377
single nucleotide variant	NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter)	KCNH2	Pathogenic	7	150644093	150644093	G	A	criteria provided, single submitter	ClinGen:CA369852264
Duplication	NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs)	KCNH2	Pathogenic	7	150644469	150644470	C	CCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656012
Deletion	NC_000007.14:g.(?_150974691)_(150977933_?)del	KCNH2	Pathogenic	7	150671779	150675021	na	na	criteria provided, single submitter	-
Duplication	NM_000238.4(KCNH2):c.1335dup (p.Gly446fs)	KCNH2	Pathogenic	7	150649734	150649735	C	CA	criteria provided, single submitter	ClinGen:CA658656055
Deletion	NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs)	KCNH2	Pathogenic	7	150654385	150654386	TGA	T	criteria provided, single submitter	ClinGen:CA658656010
single nucleotide variant	NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter)	KCNH2	Pathogenic	7	150656671	150656671	C	T	criteria provided, single submitter	ClinGen:CA369863610
Duplication	NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs)	KCNH2	Pathogenic	7	150644461	150644462	C	CCCCGGGG	criteria provided, single submitter	ClinGen:CA658656011
Indel	NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA	KCNH2	Likely pathogenic	7	150647509	150647511	CTG	TT	criteria provided, single submitter	ClinGen:CA658656024