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
single nucleotide variant	NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys)	KCNH2	Pathogenic/Likely pathogenic	7	150671967	150671967	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004565
single nucleotide variant	NM_000238.4(KCNH2):c.140G>T (p.Gly47Val)	KCNH2	Pathogenic	7	150671966	150671966	C	A	criteria provided, single submitter	ClinGen:CA004581,UniProtKB:Q12809#VAR_009909
Indel	NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter)	KCNH2	Pathogenic	7	150671959	150671960	GC	TT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000238.4(KCNH2):c.147C>G (p.Cys49Trp)	KCNH2	Pathogenic	7	150671959	150671959	G	C	criteria provided, single submitter	ClinGen:CA004708
Deletion	NM_000238.4(KCNH2):c.154del (p.Cys52fs)	KCNH2	Pathogenic	7	150671952	150671952	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004782
single nucleotide variant	NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter)	KCNH2	Pathogenic	7	150671950	150671950	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)	KCNH2	Pathogenic/Likely pathogenic	7	150671949	150671949	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004831,UniProtKB:Q12809#VAR_008909
single nucleotide variant	NM_000238.4(KCNH2):c.158G>A (p.Gly53Asp)	KCNH2	Pathogenic	7	150671948	150671948	C	T	criteria provided, single submitter	ClinGen:CA004864,UniProtKB:Q12809#VAR_074773
single nucleotide variant	NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter)	KCNH2	Pathogenic	7	150671944	150671944	G	C	criteria provided, single submitter	ClinGen:CA369865774
single nucleotide variant	NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter)	KCNH2	Likely pathogenic	7	150671944	150671944	G	T	criteria provided, single submitter	ClinGen:CA369865776