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
single nucleotide variant	NM_007294.4(BRCA1):c.134+3A>C	BRCA1	Pathogenic	17	41267740	41267740	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+3&base_change=A to C,ClinGen:CA000885
single nucleotide variant	NM_007294.4(BRCA1):c.135-1G>C	BRCA1	Pathogenic	17	41258551	41258551	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):254-1&base_change=G to C,ClinGen:CA000894
single nucleotide variant	NM_007294.4(BRCA1):c.1352C>A (p.Ser451Ter)	BRCA1	Pathogenic	17	41246196	41246196	G	T	reviewed by expert panel	ClinGen:CA000898
single nucleotide variant	NM_007294.4(BRCA1):c.1352C>G (p.Ser451Ter)	BRCA1	Pathogenic	17	41246196	41246196	G	C	reviewed by expert panel	ClinGen:CA000899
Deletion	NM_007294.4(BRCA1):c.1371del (p.Asp458fs)	BRCA1	Pathogenic	17	41246177	41246177	CT	C	reviewed by expert panel	ClinGen:CA000912
Deletion	NM_007294.4(BRCA1):c.1374del (p.Asp458fs)	BRCA1	Pathogenic	17	41246174	41246174	TG	T	reviewed by expert panel	ClinGen:CA000913
Deletion	NM_007294.4(BRCA1):c.1380del (p.Phe461fs)	BRCA1	Pathogenic	17	41246168	41246168	AT	A	reviewed by expert panel	ClinGen:CA000917
Duplication	NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)	BRCA1	Pathogenic	17	41246167	41246168	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1499&base_change=ins A,ClinGen:CA000916
Deletion	NM_007294.4(BRCA1):c.1383del (p.Phe461fs)	BRCA1	Pathogenic	17	41246165	41246165	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1502&base_change=del T,ClinGen:CA000920
Duplication	NM_007294.4(BRCA1):c.1384_1393dup (p.Tyr465fs)	BRCA1	Pathogenic	17	41246154	41246155	T	TAGGTTTTCCC	reviewed by expert panel	ClinGen:CA026488

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