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.5945dup (p.Ser1982fs)	BRCA2	Pathogenic	13	32914436	32914437	A	AG	reviewed by expert panel	ClinGen:CA023394
Deletion	NM_000059.4(BRCA2):c.5946_5949del (p.Ser1982fs)	BRCA2	Pathogenic	13	32914438	32914441	GTGGA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6174&base_change=del TGGA,ClinGen:CA023398
Deletion	NM_000059.4(BRCA2):c.5946_5950del (p.Ser1982fs)	BRCA2	Pathogenic	13	32914438	32914442	GTGGAA	G	reviewed by expert panel	ClinGen:CA023400
Duplication	NM_000059.4(BRCA2):c.5952dup (p.Ser1985fs)	BRCA2	Pathogenic	13	32914440	32914441	G	GA	reviewed by expert panel	ClinGen:CA023405
Deletion	NM_000059.4(BRCA2):c.5954_5955del (p.Ser1985fs)	BRCA2	Pathogenic	13	32914445	32914446	ATC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6181&base_change=del TC,ClinGen:CA023409
single nucleotide variant	NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)	BRCA2	Pathogenic	13	32914451	32914451	C	T	reviewed by expert panel	ClinGen:CA023417
Duplication	NM_000059.4(BRCA2):c.595_599dup (p.Pro201fs)	BRCA2	Pathogenic	13	32900713	32900714	A	AGCTAC	reviewed by expert panel	ClinGen:CA023481
Deletion	NM_000059.4(BRCA2):c.5964_5965del (p.Ser1989fs)	BRCA2	Pathogenic	13	32914455	32914456	GTA	G	reviewed by expert panel	ClinGen:CA023427
Duplication	NM_000059.4(BRCA2):c.5967dup (p.Asp1990fs)	BRCA2	Pathogenic	13	32914458	32914459	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6195&base_change=ins A,ClinGen:CA023429
Deletion	NM_000059.4(BRCA2):c.5968_5969del (p.Asp1990fs)	BRCA2	Pathogenic	13	32914459	32914460	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6196&base_change=del GA,ClinGen:CA023431