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

1
...
539
540
541
542
543
...
630

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_058216.3(RAD51C):c.572-1G>C	RAD51C	Pathogenic/Likely pathogenic	17	56780556	56780556	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA400348971
Deletion	NM_058216.3(RAD51C):c.821del (p.Asn274fs)	RAD51C	Pathogenic	17	56787333	56787333	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA626735758
single nucleotide variant	NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)	RAD51C	Likely pathogenic	17	56809897	56809897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400365176
single nucleotide variant	NM_058216.3(RAD51C):c.838-2A>G	RAD51C	Likely pathogenic	17	56798105	56798105	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA400359301
Duplication	NM_058216.3(RAD51C):c.851_854dup (p.Met286fs)	RAD51C	Pathogenic	17	56798117	56798118	C	CCAAT	criteria provided, single submitter	ClinGen:CA658658625
single nucleotide variant	NM_002878.4(RAD51D):c.577-2A>G	RAD51D	Pathogenic/Likely pathogenic	17	33430565	33430565	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399088005
single nucleotide variant	NM_002878.4(RAD51D):c.264-2A>C	RAD51D	Likely pathogenic	17	33434468	33434468	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399090042
single nucleotide variant	NM_002878.4(RAD51D):c.216C>A (p.Tyr72Ter)	RAD51D	Pathogenic	17	33445567	33445567	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399091296
Duplication	NM_007294.4(BRCA1):c.5296dup (p.Ile1766fs)	BRCA1	Pathogenic	17	41203115	41203116	A	AT	criteria provided, single submitter	ClinGen:CA658656653
Deletion	NM_007294.4(BRCA1):c.5059del (p.Val1687fs)	BRCA1	Pathogenic	17	41219640	41219640	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656683

1
...
539
540
541
542
543
...
630