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_007294.4(BRCA1):c.1154G>A (p.Trp385Ter)	BRCA1	Pathogenic	17	41246394	41246394	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10599747
Deletion	NM_007294.4(BRCA1):c.3870_3877del (p.Lys1290fs)	BRCA1	Pathogenic	17	41243671	41243678	GCAGAACAT	G	criteria provided, single submitter	ClinGen:CA658656674
Deletion	NM_007294.4(BRCA1):c.998_1010del (p.Thr333fs)	BRCA1	Pathogenic	17	41246538	41246550	TTCTGTGCTGGGAG	T	criteria provided, single submitter	ClinGen:CA658656801
Deletion	NM_007294.4(BRCA1):c.799del (p.Ser267fs)	BRCA1	Pathogenic	17	41246749	41246749	GA	G	criteria provided, single submitter	ClinGen:CA658656633
Indel	NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs)	BRCA1	Pathogenic	17	41245618	41245619	AA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656743
Deletion	NM_007294.4(BRCA1):c.1676del (p.Gly559fs)	BRCA1	Pathogenic	17	41245872	41245872	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656759
Indel	NM_007294.4(BRCA1):c.288_292delinsAACCTGT (p.Asp96fs)	BRCA1	Pathogenic	17	41256894	41256898	CTGTG	ACAGGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656667
single nucleotide variant	NM_058216.3(RAD51C):c.145+1G>A	RAD51C	Likely pathogenic	17	56770150	56770150	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677153
Deletion	NM_007294.4(BRCA1):c.83del (p.Leu28fs)	BRCA1	Pathogenic	17	41267794	41267794	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656690
single nucleotide variant	NM_007294.4(BRCA1):c.1162A>T (p.Arg388Ter)	BRCA1	Pathogenic	17	41246386	41246386	T	A	criteria provided, single submitter	ClinGen:CA10599729

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