先天性QT延長症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.472+1G>A	KCNH2	Pathogenic/Likely pathogenic	7	150656659	150656659	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618414
Deletion	NM_000238.4(KCNH2):c.395_456del (p.Val132fs)	KCNH2	Pathogenic	7	150656676	150656737	TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA	T	criteria provided, single submitter	ClinGen:CA16618415
Duplication	NM_000238.4(KCNH2):c.331_337dup (p.Val113fs)	KCNH2	Likely pathogenic	7	150656794	150656795	A	ACCACATC	criteria provided, single submitter	ClinGen:CA16618416
single nucleotide variant	NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter)	KCNH2	Pathogenic	7	150671942	150671942	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618417
single nucleotide variant	NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val)	KCNH2	Likely pathogenic	7	150648184	150648184	C	A	criteria provided, single submitter	ClinGen:CA369857738
Indel	NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs)	KCNH2	Pathogenic	7	150655394	150655398	TGCCA	G	criteria provided, single submitter	ClinGen:CA645294046
Deletion	NM_000238.4(KCNH2):c.2038del (p.Val680fs)	KCNH2	Pathogenic	7	150648116	150648116	AC	A	criteria provided, single submitter	ClinGen:CA645372847
single nucleotide variant	NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg)	KCNH2	Likely pathogenic	7	150648202	150648202	A	C	criteria provided, single submitter	ClinGen:CA369857777
Duplication	NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)	KCNH2	Pathogenic	7	150645544	150645545	G	GCCTGC	criteria provided, single submitter	ClinGen:CA645372848
Deletion	NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs)	KCNH2	Pathogenic	7	150644720	150644724	GCTCTT	G	criteria provided, single submitter	ClinGen:CA645372845