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
Duplication	NM_000059.4(BRCA2):c.7855dup (p.Trp2619fs)	BRCA2	Pathogenic	13	32936706	32936707	A	AT	reviewed by expert panel	ClinGen:CA165137
Deletion	NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer)	BRCA2	Pathogenic	13	32944591	32944602	TTTCCTGACCCTA	T	reviewed by expert panel	ClinGen:CA025618
Deletion	NM_000059.4(BRCA2):c.8948_8953+5del	BRCA2	Pathogenic	13	32953644	32953654	AAAGATTCAGGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165434
Deletion	NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs)	BRCA2	Pathogenic	13	32972417	32972420	GAGAA	G	reviewed by expert panel	ClinGen:CA026293
Deletion	NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)	BRCA2	Pathogenic	13	32915306	32915310	AAGAAG	A	reviewed by expert panel	ClinGen:CA024442
Deletion	NM_000059.4(BRCA2):c.1428_1431del (p.His477fs)	BRCA2	Pathogenic	13	32907043	32907046	CTCAT	C	reviewed by expert panel	ClinGen:CA012021
Duplication	NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)	BRCA2	Pathogenic	13	32913849	32913850	G	GT	reviewed by expert panel	ClinGen:CA165826
Duplication	NM_000059.4(BRCA2):c.3411dup (p.Gln1138fs)	BRCA2	Pathogenic	13	32911902	32911903	T	TG	reviewed by expert panel	ClinGen:CA165831
Deletion	NM_000059.4(BRCA2):c.429del (p.Val144fs)	BRCA2	Pathogenic	13	32900241	32900241	CT	C	reviewed by expert panel	ClinGen:CA019934
single nucleotide variant	NM_000059.4(BRCA2):c.8608C>T (p.Gln2870Ter)	BRCA2	Pathogenic	13	32945213	32945213	C	T	reviewed by expert panel	ClinGen:CA025733

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