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_000013.11:g.(?_32330899)_(32380165_?)del	BRCA2	Pathogenic	13	32905036	32954302	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7976+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32936831	32936831	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9117_9117+11del	BRCA2	Likely pathogenic	13	32954050	32954061	CGGTACAAACCTT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000013.10:g.(?_32928978)_(32954302_?)dup	BRCA2	Likely pathogenic	13	32928978	32954302	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32370936)_(32398790_?)del	BRCA2	Pathogenic	13	32945073	32972927	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7007+2T>G	BRCA2	Pathogenic/Likely pathogenic	13	32921035	32921035	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32326081)_(32326633_?)del	BRCA2	Pathogenic	13	32900218	32900770	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32354841)_(32357949_?)del	BRCA2	Likely pathogenic	13	32928978	32932086	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35100943)_(35101046_?)del	RAD51D	Likely pathogenic	17	33427962	33428065	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41219605)_(41219732_?)dup	BRCA1	Pathogenic	17	41219605	41219732	na	na	criteria provided, single submitter	-

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