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.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.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.916G>C (p.Gly306Arg)	KCNH2	Likely pathogenic	7	150655147	150655147	C	G	criteria provided, single submitter	ClinGen:CA008981
single nucleotide variant	NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)	KCNH2	Likely pathogenic	7	150655147	150655147	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008988
single nucleotide variant	NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr)	KCNH2	Likely pathogenic	7	150672014	150672014	A	G	criteria provided, single submitter	ClinGen:CA008995
single nucleotide variant	NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr)	KCNH2	Likely pathogenic	7	150644561	150644561	C	A	criteria provided, single submitter	ClinGen:CA007791
single nucleotide variant	NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu)	KCNH2	Likely pathogenic	7	150646072	150646072	C	G	criteria provided, single submitter	ClinGen:CA006804
single nucleotide variant	NM_000238.4(KCNH2):c.2326C>T (p.Leu776Phe)	KCNH2	Likely pathogenic	7	150647328	150647328	G	A	criteria provided, single submitter	ClinGen:CA006448
single nucleotide variant	NM_000238.4(KCNH2):c.2263G>A (p.Ala755Thr)	KCNH2	Likely pathogenic	7	150647391	150647391	C	T	criteria provided, single submitter	ClinGen:CA006406
single nucleotide variant	NM_000238.4(KCNH2):c.1945+1G>A	KCNH2	Likely pathogenic	7	150648535	150648535	C	T	criteria provided, single submitter	ClinGen:CA006070