ウィルムス腫瘍 - MGenReviews

ウィルムス腫瘍

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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_024426.6(WT1):c.965+1G>A	WT1	Pathogenic/Likely pathogenic	11	32439122	32439122	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000011.10:g.(?_32389048)_(32435355_?)del	WT1	Pathogenic	11	32410594	32456901	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)	WT1	Pathogenic	11	32449507	32449507	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)	WT1	Pathogenic	11	32410674	32410674	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.1421A>C (p.His474Pro)	WT1	Likely pathogenic	11	32413544	32413544	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.472G>T (p.Glu158Ter)	WT1	Pathogenic	11	32456435	32456435	C	A	criteria provided, single submitter	-
Deletion	NM_024426.6(WT1):c.653del (p.Arg218fs)	WT1	Pathogenic	11	32456254	32456254	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)	WT1	Pathogenic/Likely pathogenic	11	32413560	32413560	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024426.6(WT1):c.478C>T (p.Gln160Ter)	WT1	Pathogenic	11	32456429	32456429	G	A	criteria provided, single submitter	ClinGen:CA379964944
Deletion	NM_024426.6(WT1):c.1149del (p.Val384fs)	WT1	Pathogenic	11	32417918	32417918	CA	C	criteria provided, single submitter	ClinGen:CA658797607

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