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.1787C>A (p.Pro596His)	KCNH2	Pathogenic	7	150648694	150648694	G	T	criteria provided, single submitter	ClinGen:CA005488,UniProtKB:Q12809#VAR_074839
single nucleotide variant	NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys)	KCNH2	Pathogenic/Likely pathogenic	7	150648691	150648691	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005509,UniProtKB:Q12809#VAR_074841
single nucleotide variant	NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)	KCNH2	Pathogenic	7	150648680	150648680	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005525,UniProtKB:Q12809#VAR_008926
single nucleotide variant	NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)	KCNH2	Pathogenic	7	150648671	150648671	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005546,UniProtKB:Q12809#VAR_008927
single nucleotide variant	NM_000238.4(KCNH2):c.1825G>A (p.Asp609Asn)	KCNH2	Pathogenic	7	150648656	150648656	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005592,UniProtKB:Q12809#VAR_009916
single nucleotide variant	NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)	KCNH2	Pathogenic/Likely pathogenic	7	150648643	150648643	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005647,UniProtKB:Q12809#VAR_008930
single nucleotide variant	NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val)	KCNH2	Likely pathogenic	7	150648638	150648638	G	C	criteria provided, single submitter	ClinGen:CA005660,UniProtKB:Q12809#VAR_014375
single nucleotide variant	NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)	KCNH2	Pathogenic/Likely pathogenic	7	150648634	150648634	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005674,UniProtKB:Q12809#VAR_074849
single nucleotide variant	NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)	KCNH2	Pathogenic/Likely pathogenic	7	150648628	150648628	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005690
single nucleotide variant	NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser)	KCNH2	Pathogenic/Likely pathogenic	7	150648605	150648605	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005743,UniProtKB:Q12809#VAR_014376