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_000238.4(KCNH2):c.379C>T (p.Leu127Phe)	KCNH2	Likely pathogenic	7	150656753	150656753	G	A	criteria provided, single submitter	ClinGen:CA008393
Deletion	NM_000238.4(KCNH2):c.402del (p.Lys135fs)	KCNH2	Pathogenic	7	150656730	150656730	TC	T	criteria provided, single submitter	ClinGen:CA16612199
Deletion	NM_000238.4(KCNH2):c.453del (p.Thr152fs)	KCNH2	Pathogenic	7	150656679	150656679	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008472
Deletion	NM_000238.4(KCNH2):c.395_456del (p.Val132fs)	KCNH2	Pathogenic	7	150656676	150656737	TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA	T	criteria provided, single submitter	ClinGen:CA16618415
single nucleotide variant	NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter)	KCNH2	Pathogenic	7	150656671	150656671	C	T	criteria provided, single submitter	ClinGen:CA369863610
Deletion	NM_000238.4(KCNH2):c.470del (p.Pro157fs)	KCNH2	Pathogenic	7	150656662	150656662	TG	T	criteria provided, single submitter	ClinGen:CA658797052
single nucleotide variant	NM_000238.4(KCNH2):c.472+1G>A	KCNH2	Pathogenic/Likely pathogenic	7	150656659	150656659	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618414
Deletion	NC_000007.14:g.(?_150959562)_(150959746_?)del	KCNH2	Pathogenic	7	150656650	150656834	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150959552)_(150959756_?)del	KCNH2	Pathogenic	7	150656640	150656844	na	na	criteria provided, single submitter	-
Duplication	NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs)	KCNH2	Pathogenic	7	150655561	150655562	G	GCAGCTTCAGGCGGAAGGTCTTGGCGCGGC	criteria provided, single submitter	ClinGen:CA337890