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	NC_000017.11:g.(?_58734112)_(58734228_?)del	RAD51C	Likely pathogenic	17	56811473	56811589	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.668-2A>C	RAD51D	Likely pathogenic	17	33430345	33430345	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.5182dup (p.Met1728fs)	BRCA1	Pathogenic	17	41215360	41215361	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.5176A>T (p.Arg1726Ter)	BRCA1	Pathogenic	17	41215367	41215367	T	A	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.4196_4197delinsT (p.Thr1399fs)	BRCA1	Pathogenic	17	41234581	41234582	GG	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1576_1577del (p.Gln526fs)	BRCA1	Pathogenic	17	41245971	41245972	TTG	T	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1285del (p.Lys428_Ile429insTer)	BRCA1	Pathogenic	17	41246263	41246263	AT	A	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.779dup (p.Tyr261fs)	BRCA1	Pathogenic	17	41246768	41246769	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)	BRCA1	Pathogenic/Likely pathogenic	17	41267756	41267756	G	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs)	RAD51C	Pathogenic	17	56770077	56770077	G	TTC	criteria provided, single submitter	-

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