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.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.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.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.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.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.902T>G (p.Met301Arg)	KCNJ2	Pathogenic	17	68172082	68172082	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577578
Indel	NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)	KCNJ2	Likely pathogenic	17	68171587	68171589	CCA	TTT	criteria provided, single submitter	ClinGen:CA350368
single nucleotide variant	NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	KCNJ2	Pathogenic/Likely pathogenic	17	68172115	68172115	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA302070
single nucleotide variant	NM_000891.3(KCNJ2):c.896A>T (p.Glu299Val)	KCNJ2	Likely pathogenic	17	68172076	68172076	A	T	criteria provided, single submitter	ClinGen:CA302052
single nucleotide variant	NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu)	KCNJ2	Likely pathogenic	17	68171833	68171833	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA302043