遺伝性乳がん・卵巣がん症候群 - MGenReviews

遺伝性乳がん・卵巣がん症候群

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
Deletion	NM_007294.4(BRCA1):c.531del (p.Val178fs)	BRCA1	Pathogenic	17	41251808	41251808	CA	C	reviewed by expert panel	ClinGen:CA10590003
Deletion	NM_007294.4(BRCA1):c.518del (p.Pro173fs)	BRCA1	Pathogenic	17	41251821	41251821	AG	A	reviewed by expert panel	ClinGen:CA10590004
single nucleotide variant	NM_007294.4(BRCA1):c.502A>T (p.Lys168Ter)	BRCA1	Pathogenic	17	41251837	41251837	T	A	reviewed by expert panel	ClinGen:CA10590005
Deletion	NM_007294.4(BRCA1):c.500_501del (p.Thr167fs)	BRCA1	Pathogenic	17	41251838	41251839	TTG	T	reviewed by expert panel	ClinGen:CA10590006
Duplication	NM_007294.4(BRCA1):c.431dup (p.Asn144fs)	BRCA1	Pathogenic	17	41256148	41256149	A	AT	reviewed by expert panel	ClinGen:CA10590008
Duplication	NM_007294.4(BRCA1):c.418dup (p.Ser140fs)	BRCA1	Pathogenic	17	41256161	41256162	C	CT	reviewed by expert panel	ClinGen:CA10590009
Deletion	NM_007294.4(BRCA1):c.411_414del (p.Leu138fs)	BRCA1	Pathogenic	17	41256166	41256169	GTAGA	G	reviewed by expert panel	ClinGen:CA10590010
Deletion	NM_007294.4(BRCA1):c.411del (p.Leu138fs)	BRCA1	Pathogenic	17	41256169	41256169	GA	G	reviewed by expert panel	ClinGen:CA10590011
Deletion	NM_007294.4(BRCA1):c.407del (p.Arg136fs)	BRCA1	Pathogenic	17	41256173	41256173	TC	T	reviewed by expert panel	ClinGen:CA10590012
Deletion	NM_007294.4(BRCA1):c.406del (p.Arg136fs)	BRCA1	Pathogenic	17	41256174	41256174	CT	C	reviewed by expert panel	ClinGen:CA10590013

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