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.1881C>A (p.Phe627Leu)	KCNH2	Pathogenic	7	150648600	150648600	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005788,UniProtKB:Q12809#VAR_014377
single nucleotide variant	NM_000238.4(KCNH2):c.1837A>T (p.Thr613Ser)	KCNH2	Pathogenic	7	150648644	150648644	T	A	criteria provided, single submitter	ClinGen:CA005641
Deletion	NM_000238.4(KCNH2):c.1815del (p.Ser606fs)	KCNH2	Pathogenic	7	150648666	150648666	AG	A	criteria provided, single submitter	ClinGen:CA005579
single nucleotide variant	NM_000238.4(KCNH2):c.1811G>T (p.Gly604Val)	KCNH2	Likely pathogenic	7	150648670	150648670	C	A	criteria provided, single submitter	ClinGen:CA005562
single nucleotide variant	NM_000238.4(KCNH2):c.1802G>A (p.Gly601Asp)	KCNH2	Likely pathogenic	7	150648679	150648679	C	T	criteria provided, single submitter	ClinGen:CA005538
single nucleotide variant	NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter)	KCNH2	Pathogenic	7	150648739	150648739	G	T	criteria provided, single submitter	ClinGen:CA005339
single nucleotide variant	NM_000238.4(KCNH2):c.1704G>A (p.Trp568Ter)	KCNH2	Pathogenic	7	150648777	150648777	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005190
Deletion	NM_000238.4(KCNH2):c.1701del (p.Trp568fs)	KCNH2	Pathogenic/Likely pathogenic	7	150648780	150648780	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005175
single nucleotide variant	NM_000238.4(KCNH2):c.1694C>T (p.Ala565Val)	KCNH2	Likely pathogenic	7	150648787	150648787	G	A	criteria provided, single submitter	ClinGen:CA005130
single nucleotide variant	NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro)	KCNH2	Likely pathogenic	7	150648788	150648788	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005122