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_000059.3(BRCA2):c.9117+1_9117+2delinsTC	BRCA2	Pathogenic	13	32954051	32954052	GT	TC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter)	BRCA2	Pathogenic	13	32972356	32972356	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32319057)_(32319345_?)del	BRCA2	Pathogenic	13	32893194	32893482	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.91del (p.Trp31fs)	BRCA2	Pathogenic	13	32893236	32893236	AT	A	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.610dup (p.Leu204fs)	BRCA2	Pathogenic/Likely pathogenic	13	32900726	32900727	A	AC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1774del (p.Tyr592fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907387	32907387	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.2400_2401del (p.Asn801fs)	BRCA2	Pathogenic	13	32910892	32910893	GTA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4723del (p.Asp1575fs)	BRCA2	Pathogenic	13	32913215	32913215	AG	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5034_5035del (p.Lys1678fs)	BRCA2	Pathogenic	13	32913523	32913524	GAA	G	criteria provided, single submitter	-
Indel	NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs)	BRCA2	Pathogenic/Likely pathogenic	13	32913854	32913855	TC	A	criteria provided, multiple submitters, no conflicts	-

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