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.232G>T (p.Asp78Tyr)	KCNJ2	Pathogenic	17	68171412	68171412	G	T	criteria provided, single submitter	ClinGen:CA329651
single nucleotide variant	NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	KCNJ2	Pathogenic	17	68171424	68171424	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA145013
single nucleotide variant	NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	KCNJ2	Pathogenic/Likely pathogenic	17	68171425	68171425	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA329657
single nucleotide variant	NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)	KCNJ2	Pathogenic	17	68171610	68171610	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA329666
single nucleotide variant	NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)	KCNJ2	Pathogenic	17	68171611	68171611	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA329669
single nucleotide variant	NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)	KCNJ2	Pathogenic	17	68171611	68171611	G	C	criteria provided, single submitter	ClinGen:CA329672
single nucleotide variant	NM_000891.3(KCNJ2):c.566G>T (p.Arg189Ile)	KCNJ2	Likely pathogenic	17	68171746	68171746	G	T	criteria provided, single submitter	ClinGen:CA302038
single nucleotide variant	NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)	KCNJ2	Pathogenic	17	68171754	68171754	A	G	criteria provided, single submitter	ClinGen:CA329687
single nucleotide variant	NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)	KCNJ2	Pathogenic	17	68171755	68171755	C	T	criteria provided, single submitter	ClinGen:CA329690
single nucleotide variant	NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)	KCNJ2	Pathogenic	17	68171824	68171824	G	A	criteria provided, single submitter	ClinGen:CA329693