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.2362G>A (p.Glu788Lys)	KCNH2	Likely pathogenic	7	150647292	150647292	C	T	criteria provided, single submitter	ClinGen:CA006501,UniProtKB:Q12809#VAR_074877
single nucleotide variant	NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser)	KCNH2	Pathogenic	7	150646122	150646122	A	G	criteria provided, single submitter	ClinGen:CA006704,UniProtKB:Q12809#VAR_014385
single nucleotide variant	NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)	KCNH2	Pathogenic/Likely pathogenic	7	150646122	150646122	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006712,UniProtKB:Q12809#VAR_014384
single nucleotide variant	NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)	KCNH2	Pathogenic/Likely pathogenic	7	150646069	150646069	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006812,UniProtKB:Q12809#VAR_014386
single nucleotide variant	NM_000238.4(KCNH2):c.2477C>T (p.Thr826Ile)	KCNH2	Pathogenic	7	150646059	150646059	G	A	criteria provided, single submitter	ClinGen:CA006823
single nucleotide variant	NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn)	KCNH2	Pathogenic/Likely pathogenic	7	150646027	150646027	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006870
single nucleotide variant	NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr)	KCNH2	Likely pathogenic	7	150646027	150646027	C	A	criteria provided, single submitter	ClinGen:CA006879,UniProtKB:Q12809#VAR_074883
single nucleotide variant	NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)	KCNH2	Pathogenic/Likely pathogenic	7	150646026	150646026	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006888,UniProtKB:Q12809#VAR_068280
single nucleotide variant	NM_000238.4(KCNH2):c.254C>T (p.Ala85Val)	KCNH2	Likely pathogenic	7	150671852	150671852	G	A	criteria provided, single submitter	ClinGen:CA006934,UniProtKB:Q12809#VAR_068252
single nucleotide variant	NM_000238.4(KCNH2):c.257T>G (p.Leu86Arg)	KCNH2	Pathogenic	7	150671849	150671849	A	C	criteria provided, single submitter	ClinGen:CA006969,UniProtKB:Q12809#VAR_008914