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.1685A>G (p.His562Arg)	KCNH2	Pathogenic/Likely pathogenic	7	150648796	150648796	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005065,UniProtKB:Q12809#VAR_074828
single nucleotide variant	NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys)	KCNH2	Likely pathogenic	7	150648777	150648777	C	G	criteria provided, single submitter	ClinGen:CA005198
single nucleotide variant	NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)	KCNH2	Pathogenic	7	150648767	150648767	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005241,UniProtKB:Q12809#VAR_068266
single nucleotide variant	NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val)	KCNH2	Pathogenic	7	150648766	150648766	C	A	criteria provided, single submitter	ClinGen:CA005271,UniProtKB:Q12809#VAR_074834
single nucleotide variant	NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys)	KCNH2	Likely pathogenic	7	150671934	150671934	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005294
single nucleotide variant	NM_000238.4(KCNH2):c.173A>G (p.Glu58Gly)	KCNH2	Likely pathogenic	7	150671933	150671933	T	C	criteria provided, single submitter	ClinGen:CA005331,UniProtKB:Q12809#VAR_074778
single nucleotide variant	NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu)	KCNH2	Likely pathogenic	7	150648736	150648736	C	A	criteria provided, single submitter	ClinGen:CA005353,UniProtKB:Q12809#VAR_074835
single nucleotide variant	NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	KCNH2	Pathogenic/Likely pathogenic	7	150648731	150648731	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005371,UniProtKB:Q12809#VAR_008924
single nucleotide variant	NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys)	KCNH2	Pathogenic	7	150648703	150648703	A	T	criteria provided, single submitter	ClinGen:CA005445,UniProtKB:Q12809#VAR_074837
single nucleotide variant	NM_000238.4(KCNH2):c.1778T>C (p.Ile593Thr)	KCNH2	Pathogenic	7	150648703	150648703	A	G	criteria provided, single submitter	ClinGen:CA005452,UniProtKB:Q12809#VAR_009915

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