家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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_000059.4(BRCA2):c.631G>A (p.Val211Ile)	BRCA2	Pathogenic	13	32900750	32900750	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023869
single nucleotide variant	NM_000059.4(BRCA2):c.632-1G>A	BRCA2	Pathogenic	13	32903579	32903579	G	A	reviewed by expert panel	ClinGen:CA023882
single nucleotide variant	NM_000059.4(BRCA2):c.632-2A>G	BRCA2	Pathogenic	13	32903578	32903578	A	G	reviewed by expert panel	ClinGen:CA023891
Deletion	NM_000059.4(BRCA2):c.6353_6366del (p.Val2118fs)	BRCA2	Pathogenic	13	32914843	32914856	GTGTAAACTCAGAAA	G	reviewed by expert panel	ClinGen:CA023946
single nucleotide variant	NM_000059.4(BRCA2):c.6359C>G (p.Ser2120Ter)	BRCA2	Pathogenic	13	32914851	32914851	C	G	reviewed by expert panel	ClinGen:CA023950
Deletion	NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)	BRCA2	Pathogenic	13	32914860	32914860	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6601&base_change=del A,ClinGen:CA023958
single nucleotide variant	NM_000059.4(BRCA2):c.6382A>T (p.Lys2128Ter)	BRCA2	Pathogenic	13	32914874	32914874	A	T	reviewed by expert panel	ClinGen:CA023965
Duplication	NM_000059.4(BRCA2):c.6390dup (p.Lys2131Ter)	BRCA2	Pathogenic	13	32914879	32914880	A	AT	reviewed by expert panel	ClinGen:CA023972
Deletion	NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs)	BRCA2	Pathogenic	13	32914884	32914887	AAATT	A	reviewed by expert panel	ClinGen:CA023978
Deletion	NM_000059.4(BRCA2):c.63del (p.Ala22fs)	BRCA2	Pathogenic	13	32890658	32890658	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):291&base_change=del A,ClinGen:CA023987