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.2611dup (p.Ser871fs)	BRCA2	Pathogenic	13	32911100	32911101	A	AT	reviewed by expert panel	ClinGen:CA10579541
Deletion	NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)	BRCA2	Pathogenic	13	32911114	32911115	CTG	C	reviewed by expert panel	ClinGen:CA10579542
single nucleotide variant	NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)	BRCA2	Pathogenic	13	32911133	32911133	G	T	reviewed by expert panel	ClinGen:CA10579544
single nucleotide variant	NM_000059.4(BRCA2):c.2651C>G (p.Ser884Ter)	BRCA2	Pathogenic	13	32911143	32911143	C	G	reviewed by expert panel	ClinGen:CA10579545
Duplication	NM_000059.4(BRCA2):c.2716dup (p.Thr906fs)	BRCA2	Pathogenic	13	32911207	32911208	T	TA	reviewed by expert panel	ClinGen:CA10579548
Duplication	NM_000059.4(BRCA2):c.2835dup (p.Asp946fs)	BRCA2	Pathogenic	13	32911321	32911322	T	TA	reviewed by expert panel	ClinGen:CA10579553
Deletion	NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)	BRCA2	Pathogenic	13	32911561	32911561	AC	A	reviewed by expert panel	ClinGen:CA10579562
Deletion	NM_000059.4(BRCA2):c.3396del (p.Lys1132fs)	BRCA2	Pathogenic	13	32911885	32911885	GA	G	reviewed by expert panel	ClinGen:CA10579575
single nucleotide variant	NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)	BRCA2	Pathogenic	13	32911897	32911897	C	A	reviewed by expert panel	ClinGen:CA10579576
single nucleotide variant	NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)	BRCA2	Pathogenic	13	32911947	32911947	T	A	reviewed by expert panel	ClinGen:CA10579579

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