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.20dup (p.Val8fs)	BRCA1	Pathogenic	17	41276093	41276094	G	GC	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.1062dup (p.Val355fs)	BRCA2	Pathogenic/Likely pathogenic	13	32906674	32906675	A	AT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3767del (p.His1256fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912259	32912259	CA	C	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.4624_4625insCG (p.Val1542fs)	BRCA2	Likely pathogenic	13	32913115	32913116	A	AGC	criteria provided, single submitter	-
Insertion	NM_000059.4(BRCA2):c.5216_5217insAATA (p.Tyr1739Ter)	BRCA2	Likely pathogenic	13	32913706	32913707	T	TTAAA	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs)	BRCA2	Pathogenic/Likely pathogenic	13	32914295	32914295	A	TT	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs)	BRCA2	Likely pathogenic	13	32915203	32915204	T	TGG	criteria provided, single submitter	-
Duplication	NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33428381	33428382	T	TCA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002878.4(RAD51D):c.6_13dup (p.Arg5fs)	RAD51D	Likely pathogenic	17	33446619	33446620	C	CTGAGCACG	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)	BRCA1	Pathogenic/Likely pathogenic	17	41223121	41223121	TG	T	criteria provided, multiple submitters, no conflicts	-

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