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
Indel	NM_007294.4(BRCA1):c.385_386delinsC (p.Gly129fs)	BRCA1	Pathogenic	17	41256194	41256195	CC	G	reviewed by expert panel	ClinGen:CA10590014
Deletion	NM_007294.4(BRCA1):c.372del (p.Ile125fs)	BRCA1	Pathogenic	17	41256208	41256208	TG	T	reviewed by expert panel	ClinGen:CA10590015
Deletion	NM_007294.4(BRCA1):c.363_364del (p.Glu121fs)	BRCA1	Pathogenic	17	41256216	41256217	ACT	A	reviewed by expert panel	ClinGen:CA10590016
Duplication	NM_007294.4(BRCA1):c.361dup (p.Glu121fs)	BRCA1	Pathogenic	17	41256218	41256219	T	TC	reviewed by expert panel	ClinGen:CA10590017
Indel	NM_007294.4(BRCA1):c.357_358delinsT (p.Lys119fs)	BRCA1	Pathogenic	17	41256222	41256223	CT	A	reviewed by expert panel	ClinGen:CA10590018
single nucleotide variant	NM_007294.4(BRCA1):c.355A>T (p.Lys119Ter)	BRCA1	Pathogenic	17	41256225	41256225	T	A	reviewed by expert panel	ClinGen:CA10590019
Deletion	NM_007294.4(BRCA1):c.342del (p.Pro115fs)	BRCA1	Pathogenic	17	41256238	41256238	GA	G	reviewed by expert panel	ClinGen:CA10590020
Deletion	NM_007294.4(BRCA1):c.335del (p.Asn112fs)	BRCA1	Pathogenic	17	41256245	41256245	AT	A	reviewed by expert panel	ClinGen:CA10590021
Insertion	NM_007294.4(BRCA1):c.330_331insA (p.Glu111fs)	BRCA1	Pathogenic	17	41256249	41256250	C	CT	reviewed by expert panel	ClinGen:CA10590022
Deletion	NM_007294.4(BRCA1):c.331del (p.Glu111fs)	BRCA1	Pathogenic	17	41256249	41256249	TC	T	reviewed by expert panel	ClinGen:CA10590023

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630