先天性QT延長症候群 - MGenReviews

先天性QT延長症候群

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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.545C>A (p.Ser182Ter)	KCNH2	Pathogenic	7	150655518	150655518	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042695
single nucleotide variant	NM_000238.4(KCNH2):c.121G>C (p.Val41Leu)	KCNH2	Likely pathogenic	7	150671985	150671985	C	G	criteria provided, single submitter	ClinGen:CA16042697
single nucleotide variant	NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter)	KCNH2	Pathogenic	7	150644541	150644541	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605072
single nucleotide variant	NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala)	KCNH2	Likely pathogenic	7	150648766	150648766	C	G	criteria provided, single submitter	ClinGen:CA16605077
single nucleotide variant	NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter)	KCNH2	Pathogenic	7	150648552	150648552	G	T	criteria provided, single submitter	ClinGen:CA16605164
single nucleotide variant	NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu)	KCNH2	Likely pathogenic	7	150648630	150648630	G	T	criteria provided, single submitter	ClinGen:CA16605169
single nucleotide variant	NM_000238.4(KCNH2):c.1686C>G (p.His562Gln)	KCNH2	Likely pathogenic	7	150648795	150648795	G	C	criteria provided, single submitter	ClinGen:CA16605170
single nucleotide variant	NM_000238.4(KCNH2):c.308-2A>G	KCNH2	Likely pathogenic	7	150656826	150656826	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605176
single nucleotide variant	NM_000238.4(KCNH2):c.2692+5G>T	KCNH2	Likely pathogenic	7	150645527	150645527	C	A	criteria provided, single submitter	ClinGen:CA16605725
Deletion	NC_000007.14:g.(?_150944956)_(150959736_?)del	KCNH2	Pathogenic	7	150642044	150656824	na	na	criteria provided, single submitter	-

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