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.536G>C (p.Gly179Ala)	KCNQ1	Likely pathogenic	11	2591916	2591916	G	C	criteria provided, single submitter	ClinGen:CA038267
single nucleotide variant	NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter)	KCNQ1	Pathogenic	11	2594138	2594138	C	A	criteria provided, single submitter	ClinGen:CA16606921
Deletion	NC_000011.10:g.(?_2570628)_(2572986_?)del	KCNQ1	Pathogenic	11	2591858	2594216	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_2585212)_(2587692_?)del	KCNQ1	Pathogenic	11	2606442	2608922	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_2583435)_(2583545_?)del	KCNQ1	Pathogenic	11	2604665	2604775	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_2775960)_(2777032_?)del	KCNQ1	Pathogenic	11	2797190	2798262	na	na	criteria provided, single submitter	-
Indel	NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu)	KCNQ1	Pathogenic	11	2594076	2594077	GA	TT	criteria provided, single submitter	ClinGen:CA16613282
single nucleotide variant	NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro)	KCNQ1	Likely pathogenic	11	2594113	2594113	T	C	criteria provided, single submitter	ClinGen:CA16613286
single nucleotide variant	NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter)	KCNQ1	Pathogenic	11	2593292	2593292	G	T	criteria provided, single submitter	ClinGen:CA16613304
Deletion	NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer)	KCNQ1	Pathogenic	11	2799256	2799256	AG	A	criteria provided, single submitter	ClinGen:CA032751

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