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
Deletion	NC_000011.10:g.(?_2527908)_(2528038_?)del	KCNQ1	Pathogenic	11	2549138	2549268	na	na	criteria provided, single submitter	-
Deletion	NM_000218.3(KCNQ1):c.1257del (p.Lys422fs)	KCNQ1	Pathogenic	11	2609948	2609948	AG	A	criteria provided, single submitter	ClinGen:CA658797569
single nucleotide variant	NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)	KCNQ1	Pathogenic	11	2594080	2594080	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)	KCNQ1	Likely pathogenic	11	2604775	2604775	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.684-2A>C	KCNQ1	Likely pathogenic	11	2593241	2593241	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.922-2A>G	KCNQ1	Pathogenic	11	2604663	2604663	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp)	KCNQ1	Pathogenic	11	2608809	2608809	A	T	criteria provided, single submitter	-
Deletion	NM_000218.3(KCNQ1):c.1515-2_1515-1del	KCNQ1	Likely pathogenic	11	2790072	2790073	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000218.3(KCNQ1):c.605-1G>C	KCNQ1	Likely pathogenic	11	2592554	2592554	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg)	KCNQ1	Likely pathogenic	11	2798232	2798232	G	C	criteria provided, single submitter	-

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