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_000059.4(BRCA2):c.8210T>A (p.Leu2737Ter)	BRCA2	Pathogenic	13	32937549	32937549	T	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8479_8487+8del	BRCA2	Pathogenic	13	32944686	32944702	CCCTATACAGGTATGATG	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8900del (p.Thr2967fs)	BRCA2	Pathogenic	13	32953599	32953599	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8954-2_8959del	BRCA2	Pathogenic/Likely pathogenic	13	32953883	32953890	AACAGTTAT	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.3(BRCA2):c.9117+1_9117+2delinsTC	BRCA2	Pathogenic	13	32954051	32954052	GT	TC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter)	BRCA2	Pathogenic	13	32972356	32972356	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32319057)_(32319345_?)del	BRCA2	Pathogenic	13	32893194	32893482	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.91del (p.Trp31fs)	BRCA2	Pathogenic	13	32893236	32893236	AT	A	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.610dup (p.Leu204fs)	BRCA2	Pathogenic/Likely pathogenic	13	32900726	32900727	A	AC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1774del (p.Tyr592fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907387	32907387	AT	A	criteria provided, multiple submitters, no conflicts	-

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