家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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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.8842del (p.Ile2948fs)	BRCA2	Pathogenic	13	32953539	32953539	GA	G	reviewed by expert panel	ClinGen:CA025847
Deletion	NM_000059.4(BRCA2):c.8848_8851del (p.Lys2950fs)	BRCA2	Pathogenic	13	32953544	32953547	TAGGA	T	reviewed by expert panel	ClinGen:CA025848
Indel	NM_000059.4(BRCA2):c.8848delinsCT (p.Lys2950fs)	BRCA2	Pathogenic	13	32953547	32953547	A	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9076&base_change=del A ins CT,ClinGen:CA269340
single nucleotide variant	NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)	BRCA2	Pathogenic	13	32953577	32953577	C	T	reviewed by expert panel	ClinGen:CA025859
Duplication	NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs)	BRCA2	Pathogenic	13	32953587	32953588	C	CA	reviewed by expert panel	ClinGen:CA025861
Deletion	NM_000059.4(BRCA2):c.8912del (p.Lys2971fs)	BRCA2	Pathogenic	13	32953610	32953610	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9140&base_change=del A,ClinGen:CA025868
Duplication	NM_000059.4(BRCA2):c.8912dup (p.Leu2972fs)	BRCA2	Pathogenic	13	32953609	32953610	G	GA	reviewed by expert panel	ClinGen:CA025867
Deletion	NM_000059.4(BRCA2):c.8915del (p.Leu2972fs)	BRCA2	Pathogenic	13	32953613	32953613	GT	G	reviewed by expert panel	ClinGen:CA025869
Deletion	NM_000059.4(BRCA2):c.8924del (p.Val2975fs)	BRCA2	Pathogenic	13	32953623	32953623	GT	G	reviewed by expert panel	ClinGen:CA025875
single nucleotide variant	NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)	BRCA2	Pathogenic	13	32953632	32953632	C	A	reviewed by expert panel	ClinGen:CA025877