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_000059.4(BRCA2):c.6155dup (p.Ser2053fs)	BRCA2	Pathogenic/Likely pathogenic	13	32914646	32914647	T	TC	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.3(BRCA2):c.6292_6301delinsAGG (p.Ser2098fs)	BRCA2	Pathogenic	13	32914784	32914793	TCTAGACAAA	AGG	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6751del (p.His2251fs)	BRCA2	Pathogenic	13	32915243	32915243	AC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7217_7218del (p.Phe2406fs)	BRCA2	Pathogenic	13	32929206	32929207	CTT	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7237_7240del (p.Lys2413fs)	BRCA2	Pathogenic	13	32929226	32929229	CTAAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr)	BRCA2	Likely pathogenic	13	32936721	32936721	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8416del (p.Ser2806fs)	BRCA2	Pathogenic	13	32944623	32944623	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.8417C>G (p.Ser2806Ter)	BRCA2	Pathogenic	13	32944624	32944624	C	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8426del (p.Phe2809fs)	BRCA2	Pathogenic	13	32944630	32944630	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_35103244)_(35119623_?)del	RAD51D	Pathogenic	17	33430263	33446642	na	na	criteria provided, single submitter	-

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