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
Duplication	NM_007294.4(BRCA1):c.4828dup (p.Ser1610fs)	BRCA1	Pathogenic	17	41223102	41223103	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656620
Deletion	NM_007294.4(BRCA1):c.4803del (p.Val1602fs)	BRCA1	Pathogenic	17	41223128	41223128	CT	C	criteria provided, single submitter	ClinGen:CA658656622
single nucleotide variant	NM_002878.4(RAD51D):c.739-1G>A	RAD51D	Likely pathogenic	17	33428385	33428385	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399086994
Deletion	NM_007294.4(BRCA1):c.3640_3644del (p.Glu1214fs)	BRCA1	Pathogenic	17	41243904	41243908	GTTCTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656686
Duplication	NM_002878.4(RAD51D):c.623dup (p.Thr209fs)	RAD51D	Pathogenic/Likely pathogenic	17	33430516	33430517	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16622123
single nucleotide variant	NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)	RAD51D	Pathogenic	17	33434024	33434024	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399089180
Indel	NM_007294.4(BRCA1):c.2820_2830delinsAAGATAAGCCAGTTTGATAA (p.Asp940_Cys944delinsGluArgTer)	BRCA1	Pathogenic	17	41244718	41244728	ATTTGGCATTA	TTATCAAACTGGCTTATCTT	criteria provided, single submitter	ClinGen:CA658656660
Deletion	NM_007294.4(BRCA1):c.4486del (p.Ser1496fs)	BRCA1	Pathogenic	17	41226537	41226537	GA	G	criteria provided, single submitter	ClinGen:CA658656638
Indel	NM_007294.4(BRCA1):c.2392_2393delinsA (p.Pro798fs)	BRCA1	Pathogenic	17	41245155	41245156	GG	T	criteria provided, single submitter	ClinGen:CA658656696
Deletion	NM_007294.4(BRCA1):c.3083del (p.Arg1028fs)	BRCA1	Pathogenic	17	41244465	41244465	AC	A	criteria provided, single submitter	ClinGen:CA626221301

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