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_000218.3(KCNQ1):c.1176G>A (p.Trp392Ter)	KCNQ1	Pathogenic	11	2608847	2608847	G	A	criteria provided, single submitter	ClinGen:CA005462
single nucleotide variant	NM_000218.3(KCNQ1):c.1251+2T>C	KCNQ1	Likely pathogenic	11	2608924	2608924	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005533
single nucleotide variant	NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter)	KCNQ1	Pathogenic	11	2610074	2610074	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005715
single nucleotide variant	NM_000218.3(KCNQ1):c.1394-1G>T	KCNQ1	Pathogenic/Likely pathogenic	11	2683190	2683190	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005727
Deletion	NM_000218.3(KCNQ1):c.1446del (p.Asn483fs)	KCNQ1	Pathogenic	11	2683242	2683242	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005767
single nucleotide variant	NM_000218.3(KCNQ1):c.1515-2A>G	KCNQ1	Pathogenic	11	2790072	2790072	A	G	criteria provided, single submitter	ClinGen:CA005838
single nucleotide variant	NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)	KCNQ1	Pathogenic/Likely pathogenic	11	2790081	2790081	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005847
Deletion	NM_000218.3(KCNQ1):c.1660del (p.Val554fs)	KCNQ1	Pathogenic	11	2797258	2797258	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000218.3(KCNQ1):c.1685+1G>A	KCNQ1	Pathogenic/Likely pathogenic	11	2797285	2797285	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006170
Deletion	NM_000218.2(KCNQ1):c.1686delG	KCNQ1	Pathogenic/Likely pathogenic	11	2798215	2798215	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006189

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