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

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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.1514del (p.Ile505fs)	BRCA2	Pathogenic	13	32907129	32907129	AT	A	reviewed by expert panel	ClinGen:CA012282
Deletion	NM_000059.4(BRCA2):c.151del (p.Glu51fs)	BRCA2	Pathogenic	13	32893297	32893297	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):379&base_change=del G,ClinGen:CA012299
single nucleotide variant	NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	BRCA2	Pathogenic	13	32907143	32907143	G	T	reviewed by expert panel	ClinGen:CA012312
Duplication	NM_000059.4(BRCA2):c.1540dup (p.Glu514fs)	BRCA2	Pathogenic	13	32907154	32907155	A	AG	reviewed by expert panel	ClinGen:CA012328
Deletion	NM_000059.4(BRCA2):c.1547del (p.Phe516fs)	BRCA2	Pathogenic	13	32907160	32907160	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1775&base_change=del T,ClinGen:CA012365
Deletion	NM_000059.4(BRCA2):c.1572del (p.Met524fs)	BRCA2	Pathogenic	13	32907187	32907187	TG	T	reviewed by expert panel	ClinGen:CA012466
single nucleotide variant	NM_000059.4(BRCA2):c.1594G>T (p.Glu532Ter)	BRCA2	Pathogenic	13	32907209	32907209	G	T	reviewed by expert panel	ClinGen:CA012541
Deletion	NM_000059.4(BRCA2):c.1595_1599del (p.Glu532fs)	BRCA2	Pathogenic	13	32907210	32907214	GAAACT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1823&base_change=del AAACT,ClinGen:CA012550
Deletion	NM_000059.4(BRCA2):c.1596_1597del (p.Glu532fs)	BRCA2	Pathogenic	13	32907210	32907211	GAA	G	reviewed by expert panel	ClinGen:CA012560
Deletion	NM_000059.4(BRCA2):c.1597del (p.Thr533fs)	BRCA2	Pathogenic	13	32907210	32907210	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1825&base_change=del A,ClinGen:CA012572

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