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.1933A>G (p.Met645Val)	KCNH2	Pathogenic	7	150648548	150648548	T	C	criteria provided, single submitter	ClinGen:CA006050
single nucleotide variant	NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)	KCNH2	Pathogenic/Likely pathogenic	7	150648175	150648175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006139,UniProtKB:Q12809#VAR_074865
single nucleotide variant	NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu)	KCNH2	Likely pathogenic	7	150671904	150671904	A	G	criteria provided, single submitter	ClinGen:CA006163,UniProtKB:Q12809#VAR_074780
single nucleotide variant	NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro)	KCNH2	Pathogenic	7	150671900	150671900	A	G	criteria provided, single submitter	ClinGen:CA006187
single nucleotide variant	NM_000238.4(KCNH2):c.209A>G (p.His70Arg)	KCNH2	Pathogenic/Likely pathogenic	7	150671897	150671897	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006229,UniProtKB:Q12809#VAR_008912
single nucleotide variant	NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg)	KCNH2	Pathogenic	7	150671895	150671895	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006261,UniProtKB:Q12809#VAR_074782
single nucleotide variant	NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)	KCNH2	Pathogenic/Likely pathogenic	7	150671891	150671891	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006293,UniProtKB:Q12809#VAR_009910
single nucleotide variant	NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)	KCNH2	Likely pathogenic	7	150647492	150647492	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006311,UniProtKB:Q12809#VAR_068275
single nucleotide variant	NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)	KCNH2	Pathogenic/Likely pathogenic	7	150647400	150647400	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006383,UniProtKB:Q12809#VAR_014383
single nucleotide variant	NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)	KCNH2	Pathogenic/Likely pathogenic	7	150647334	150647334	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006441,UniProtKB:Q12809#VAR_068277