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
single nucleotide variant	NM_000059.4(BRCA2):c.4552G>T (p.Glu1518Ter)	BRCA2	Pathogenic	13	32913044	32913044	G	T	reviewed by expert panel	ClinGen:CA020419
Deletion	NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)	BRCA2	Pathogenic	13	32913045	32913045	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4782&base_change=del A,ClinGen:CA020425
Deletion	NM_000059.4(BRCA2):c.4556del (p.Pro1519fs)	BRCA2	Pathogenic	13	32913047	32913047	AC	A	reviewed by expert panel	ClinGen:CA020432
single nucleotide variant	NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)	BRCA2	Pathogenic	13	32913080	32913080	A	T	reviewed by expert panel	ClinGen:CA020499
Deletion	NM_000059.4(BRCA2):c.4593del (p.Val1532fs)	BRCA2	Pathogenic	13	32913080	32913080	GA	G	reviewed by expert panel	ClinGen:CA020516
Duplication	NM_000059.4(BRCA2):c.4593dup (p.Val1532fs)	BRCA2	Pathogenic	13	32913079	32913080	G	GA	reviewed by expert panel	ClinGen:CA020508
Deletion	NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)	BRCA2	Pathogenic	13	32900273	32900274	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):690&base_change=del AA,ClinGen:CA020546
Duplication	NM_000059.4(BRCA2):c.4638dup (p.Asp1547Ter)	BRCA2	Pathogenic	13	32913125	32913126	C	CT	reviewed by expert panel	ClinGen:CA020568
Deletion	NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)	BRCA2	Pathogenic	13	32913139	32913142	AAGAG	A	reviewed by expert panel	ClinGen:CA020582
Deletion	NM_000059.4(BRCA2):c.464_468del (p.Arg155fs)	BRCA2	Pathogenic	13	32900276	32900280	AGAGAT	A	reviewed by expert panel	ClinGen:CA020578