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_000219.6(KCNE1):c.262C>T (p.Gln88Ter)	KCNE1	Likely pathogenic	21	35821671	35821671	G	A	criteria provided, single submitter	ClinGen:CA10588708
single nucleotide variant	NM_000219.6(KCNE1):c.217C>T (p.His73Tyr)	KCNE1	Likely pathogenic	21	35821716	35821716	G	A	criteria provided, single submitter	ClinGen:CA16620987
Deletion	NM_000219.6(KCNE1):c.202_205del (p.Ser68fs)	KCNE1	Likely pathogenic	21	35821728	35821731	TTGGA	T	criteria provided, single submitter	ClinGen:CA658799410
Deletion	NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del)	KCNE1	Likely pathogenic	21	35821753	35821767	TGCCCAGGGTGAAGAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter)	KCNE1	Likely pathogenic	21	35821665	35821665	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_172201.2(KCNE2):c.205G>A (p.Val69Met)	KCNE2	Likely pathogenic	21	35742982	35742982	G	A	criteria provided, single submitter	ClinGen:CA301992
single nucleotide variant	NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys)	KCNH2	Likely pathogenic	7	150649790	150649790	T	C	criteria provided, single submitter	ClinGen:CA004393,UniProtKB:Q12809#VAR_074811
single nucleotide variant	NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)	KCNH2	Likely pathogenic	7	150649592	150649592	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004695,UniProtKB:Q12809#VAR_074821
single nucleotide variant	NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)	KCNH2	Likely pathogenic	7	150648808	150648808	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004976,UniProtKB:Q12809#VAR_074827
single nucleotide variant	NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln)	KCNH2	Likely pathogenic	7	150671939	150671939	C	T	criteria provided, single submitter	ClinGen:CA005006,UniProtKB:Q12809#VAR_008910