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
single nucleotide variant	NM_002878.4(RAD51D):c.738+1G>A	RAD51D	Likely pathogenic	17	33430272	33430272	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4195del (p.Thr1399fs)	BRCA1	Pathogenic	17	41234583	41234583	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3641del (p.Glu1214fs)	BRCA1	Pathogenic	17	41243907	41243907	CT	C	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.2589_2594delinsATTCTTTT (p.Ser864fs)	BRCA1	Pathogenic	17	41244954	41244959	TTTGAA	AAAAGAAT	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.2143_2155delinsTCTTT (p.Thr715fs)	BRCA1	Pathogenic	17	41245393	41245405	TAAGTTCACTGGT	AAAGA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.2066dup (p.Ser689fs)	BRCA1	Pathogenic	17	41245481	41245482	A	AC	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1785del (p.Glu595fs)	BRCA1	Pathogenic	17	41245763	41245763	GT	G	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.954del (p.His318fs)	BRCA1	Pathogenic	17	41246594	41246594	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.520C>T (p.Gln174Ter)	BRCA1	Pathogenic	17	41251819	41251819	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33446133	33446133	G	T	criteria provided, multiple submitters, no conflicts	-

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