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_000891.3(KCNJ2):c.682C>T (p.Arg228Ter)	KCNJ2	Pathogenic	17	68171862	68171862	C	T	criteria provided, single submitter	ClinGen:CA16615988
single nucleotide variant	NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly)	KCNJ2	Likely pathogenic	17	68171745	68171745	A	G	criteria provided, single submitter	ClinGen:CA400861029
single nucleotide variant	NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)	KCNJ2	Likely pathogenic	17	68171833	68171833	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA400861474
single nucleotide variant	NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)	KCNJ2	Pathogenic	17	68171895	68171895	G	T	criteria provided, single submitter	ClinGen:CA400861763
single nucleotide variant	NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)	KCNJ2	Pathogenic/Likely pathogenic	17	68172099	68172099	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA400862672
single nucleotide variant	NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser)	KCNJ2	Likely pathogenic	17	68171845	68171845	T	C	criteria provided, single submitter	-
Deletion	NM_000891.3(KCNJ2):c.1102del (p.Leu368fs)	KCNJ2	Pathogenic	17	68172281	68172281	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter)	KCNJ2	Pathogenic	17	68172357	68172357	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)	KCNJ2	Likely pathogenic	17	68171737	68171737	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_005184.4(CALM3):c.395A>G (p.Asp132Gly)	CALM3	Likely pathogenic	19	47112212	47112212	A	G	criteria provided, single submitter	ClinGen:CA16608277