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	NM_000059.4(BRCA2):c.3635del (p.Asn1212fs)	BRCA2	Pathogenic	13	32912124	32912124	GA	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.3(BRCA2):c.9064delinsGG (p.Arg3022fs)	BRCA2	Likely pathogenic	13	32953997	32953997	A	GG	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.3690dup (p.Phe1231fs)	BRCA1	Likely pathogenic	17	41243857	41243858	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.68-1G>C	BRCA2	Pathogenic	13	32893213	32893213	G	C	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)	BRCA2	Pathogenic/Likely pathogenic	13	32899298	32899299	T	TCTAAATTC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.544G>T (p.Glu182Ter)	BRCA2	Pathogenic	13	32900663	32900663	G	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.963_966del (p.Gln321_Lys322insTer)	BRCA2	Pathogenic	13	32906577	32906580	CAAAA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1041del (p.Gln347_Val348insTer)	BRCA2	Pathogenic	13	32906655	32906655	CA	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.1758_1759del (p.Lys586fs)	BRCA2	Pathogenic	13	32907371	32907372	GAA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.2122del (p.Ser708fs)	BRCA2	Pathogenic	13	32910613	32910613	AT	A	criteria provided, single submitter	-

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