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.1755_1759del (p.Lys585fs)	BRCA2	Pathogenic	13	32907366	32907370	AAAAAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1983&base_change=del GAAAA,ClinGen:CA013079
Deletion	NM_000059.4(BRCA2):c.1794_1798del	BRCA2	Pathogenic	13	32907409	32907413	CATCTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2024&base_change=del TTTAT,Breast Cancer Information Core (BIC) (BRCA2):2022&base_change=del ATTTT,ClinGen:CA013253
single nucleotide variant	NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)	BRCA2	Pathogenic	13	32907415	32907415	T	A	reviewed by expert panel	ClinGen:CA013314
Duplication	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2	Pathogenic	13	32907428	32907428	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2034&base_change=ins A,Breast Cancer Information Core (BIC) (BRCA2):2041&base_change=ins A,ClinGen:CA013353
Deletion	NM_000059.4(BRCA2):c.1813del (p.Ile605fs)	BRCA2	Pathogenic	13	32907421	32907421	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2034&base_change=del A,Breast Cancer Information Core (BIC) (BRCA2):2041&base_change=del A,ClinGen:CA013362
single nucleotide variant	NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)	BRCA2	Pathogenic	13	32907447	32907447	C	A	reviewed by expert panel	ClinGen:CA013511
single nucleotide variant	NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)	BRCA2	Pathogenic	13	32907465	32907465	C	A	reviewed by expert panel	ClinGen:CA013563
single nucleotide variant	NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter)	BRCA2	Pathogenic	13	32907465	32907465	C	G	reviewed by expert panel	ClinGen:CA013573
Deletion	NM_000059.4(BRCA2):c.1929del (p.Arg645fs)	BRCA2	Pathogenic	13	32910421	32910421	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2157&base_change=del G,ClinGen:CA013940
single nucleotide variant	NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)	BRCA2	Pathogenic	13	32910462	32910462	T	A	reviewed by expert panel	ClinGen:CA014065