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.1879T>C (p.Phe627Leu)	KCNH2	Pathogenic	7	150648602	150648602	A	G	criteria provided, single submitter	ClinGen:CA005780,UniProtKB:Q12809#VAR_014377
single nucleotide variant	NM_000238.4(KCNH2):c.1885A>G (p.Asn629Asp)	KCNH2	Pathogenic	7	150648596	150648596	T	C	criteria provided, single submitter	ClinGen:CA005840,UniProtKB:Q12809#VAR_008932
single nucleotide variant	NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr)	KCNH2	Pathogenic	7	150648595	150648595	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005846
single nucleotide variant	NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)	KCNH2	Pathogenic	7	150648595	150648595	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005852,UniProtKB:Q12809#VAR_009179
single nucleotide variant	NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)	KCNH2	Likely pathogenic	7	150648594	150648594	G	T	criteria provided, single submitter	ClinGen:CA005864,UniProtKB:Q12809#VAR_008933
single nucleotide variant	NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)	KCNH2	Pathogenic/Likely pathogenic	7	150648587	150648587	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005893,UniProtKB:Q12809#VAR_014378
single nucleotide variant	NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)	KCNH2	Pathogenic	7	150648583	150648583	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005905,UniProtKB:Q12809#VAR_008936
single nucleotide variant	NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys)	KCNH2	Pathogenic	7	150648572	150648572	C	T	criteria provided, single submitter	ClinGen:CA005952,UniProtKB:Q12809#VAR_014379
single nucleotide variant	NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)	KCNH2	Pathogenic	7	150648561	150648561	G	T	criteria provided, single submitter	ClinGen:CA006030,UniProtKB:Q12809#VAR_008937
single nucleotide variant	NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe)	KCNH2	Pathogenic	7	150648559	150648559	G	A	criteria provided, single submitter	ClinGen:CA006035,UniProtKB:Q12809#VAR_068273