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.653G>A (p.Arg218Gln)	KCNJ2	Pathogenic	17	68171833	68171833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA329699
single nucleotide variant	NM_000891.3(KCNJ2):c.779G>C (p.Arg260Pro)	KCNJ2	Pathogenic	17	68171959	68171959	G	C	criteria provided, single submitter	ClinGen:CA302046
single nucleotide variant	NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)	KCNJ2	Pathogenic	17	68172079	68172079	G	A	criteria provided, single submitter	ClinGen:CA329702
single nucleotide variant	NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)	KCNJ2	Likely pathogenic	17	68172093	68172093	A	G	criteria provided, single submitter	ClinGen:CA145022
single nucleotide variant	NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)	KCNJ2	Pathogenic	17	68172106	68172106	C	T	criteria provided, single submitter	ClinGen:CA329714
single nucleotide variant	NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)	KCNJ2	Pathogenic/Likely pathogenic	17	68172114	68172114	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA329717
single nucleotide variant	NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)	KCNJ2	Likely pathogenic	17	68171746	68171746	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA302035
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
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.935G>A (p.Arg312His)	KCNJ2	Pathogenic/Likely pathogenic	17	68172115	68172115	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA302070