遺伝性乳がん・卵巣がん症候群

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
Duplication	NM_000059.4(BRCA2):c.4480dup (p.Ser1494fs)	BRCA2	Pathogenic	13	32912969	32912970	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4705&base_change=ins A,ClinGen:CA020242
single nucleotide variant	NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)	BRCA2	Pathogenic	13	32913017	32913017	C	T	reviewed by expert panel	ClinGen:CA020321
Deletion	NM_000059.4(BRCA2):c.4535del (p.Arg1512fs)	BRCA2	Pathogenic	13	32913027	32913027	CG	C	reviewed by expert panel	ClinGen:CA020340
Duplication	NM_000059.4(BRCA2):c.4536_4539dup (p.Glu1514Ter)	BRCA2	Pathogenic	13	32913027	32913028	G	GTGAT	reviewed by expert panel	ClinGen:CA020370
Deletion	NM_000059.4(BRCA2):c.4544del (p.Lys1515fs)	BRCA2	Pathogenic	13	32913033	32913033	GA	G	reviewed by expert panel	ClinGen:CA020378
Duplication	NM_000059.4(BRCA2):c.4546dup (p.Ile1516fs)	BRCA2	Pathogenic	13	32913037	32913038	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4773&base_change=ins A,ClinGen:CA020383
Deletion	NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs)	BRCA2	Pathogenic	13	32913041	32913044	CAAAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4779&base_change=del AGAA,ClinGen:CA020410
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