家族性膵がん - MGenReviews

家族性膵がん

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
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_007294.4(BRCA1):c.4485-2A>C	BRCA1	Likely pathogenic	17	41226540	41226540	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.4382_4388dup (p.Tyr1463Ter)	BRCA1	Pathogenic	17	41228600	41228601	G	GTATTCAC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3033_3034del (p.Glu1013fs)	BRCA1	Pathogenic	17	41244514	41244515	CTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32315480)_(32316547_?)del	BRCA2	Pathogenic	13	32889617	32890684	na	na	criteria provided, single submitter	-

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