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.3269del (p.Met1090fs)	BRCA2	Pathogenic	13	32911761	32911761	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3497&base_change=del T,ClinGen:CA017683
Deletion	NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)	BRCA2	Pathogenic	13	32911763	32911766	GTTAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3501&base_change=del ATTT,ClinGen:CA017689
Deletion	NM_000059.4(BRCA2):c.3277del (p.Ser1093fs)	BRCA2	Pathogenic	13	32911766	32911766	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3505&base_change=del T,ClinGen:CA017695
single nucleotide variant	NM_000059.4(BRCA2):c.3283C>T (p.Gln1095Ter)	BRCA2	Pathogenic	13	32911775	32911775	C	T	reviewed by expert panel	ClinGen:CA017706
single nucleotide variant	NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)	BRCA2	Pathogenic	13	32911788	32911788	C	G	reviewed by expert panel	ClinGen:CA017733
single nucleotide variant	NM_000059.4(BRCA2):c.3319C>T (p.Gln1107Ter)	BRCA2	Pathogenic	13	32911811	32911811	C	T	reviewed by expert panel	ClinGen:CA017774
Deletion	NM_000059.4(BRCA2):c.3352_3356del (p.Leu1118fs)	BRCA2	Pathogenic	13	32911843	32911847	TATTAG	T	reviewed by expert panel	ClinGen:CA017832
Deletion	NM_000059.4(BRCA2):c.3354del (p.Glu1119fs)	BRCA2	Pathogenic	13	32911846	32911846	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3582&base_change=del A,ClinGen:CA017848
single nucleotide variant	NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)	BRCA2	Pathogenic	13	32911854	32911854	C	G	reviewed by expert panel	ClinGen:CA017866
Deletion	NM_000059.4(BRCA2):c.3366_3367del (p.Gln1124fs)	BRCA2	Pathogenic	13	32911858	32911859	GAA	G	reviewed by expert panel	ClinGen:CA017878