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
Indel	NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro)	KCNE1	Likely pathogenic	21	35821756	35821761	CAGGGT	AGGGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA085426,OMIM:176261.0001
single nucleotide variant	NM_005184.4(CALM3):c.422A>G (p.Glu141Gly)	CALM3	Likely pathogenic	19	47112382	47112382	A	G	criteria provided, single submitter	ClinGen:CA406473868
single nucleotide variant	NM_005184.4(CALM3):c.396T>A (p.Asp132Glu)	CALM3	Pathogenic	19	47112213	47112213	T	A	criteria provided, single submitter	ClinGen:CA16620863
single nucleotide variant	NM_005184.4(CALM3):c.286G>C (p.Asp96His)	CALM3	Pathogenic	19	47112103	47112103	G	C	criteria provided, single submitter	ClinGen:CA16616292
single nucleotide variant	NM_005184.4(CALM3):c.281A>C (p.Asp94Ala)	CALM3	Pathogenic	19	47111841	47111841	A	C	criteria provided, single submitter	ClinGen:CA16616071
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
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_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter)	KCNJ2	Pathogenic	17	68172357	68172357	G	T	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.665T>C (p.Leu222Ser)	KCNJ2	Likely pathogenic	17	68171845	68171845	T	C	criteria provided, single submitter	-