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
Deletion	NM_000059.4(BRCA2):c.5778_5779del (p.Ser1926fs)	BRCA2	Pathogenic	13	32914269	32914270	AGT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6006&base_change=del TG,ClinGen:CA023212
single nucleotide variant	NM_000059.4(BRCA2):c.5789T>A (p.Leu1930Ter)	BRCA2	Pathogenic	13	32914281	32914281	T	A	reviewed by expert panel	ClinGen:CA023238
Deletion	NM_000059.4(BRCA2):c.5789del (p.Leu1930fs)	BRCA2	Pathogenic	13	32914278	32914278	AT	A	reviewed by expert panel	ClinGen:CA023235
single nucleotide variant	NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)	BRCA2	Pathogenic	13	32914283	32914283	C	T	reviewed by expert panel	ClinGen:CA023241
Deletion	NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)	BRCA2	Pathogenic	13	32914288	32914289	CAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6024&base_change=del TA,ClinGen:CA023249
Deletion	NM_000059.4(BRCA2):c.5799_5800del (p.Asn1933fs)	BRCA2	Pathogenic	13	32914291	32914292	ACC	A	reviewed by expert panel	ClinGen:CA023254
single nucleotide variant	NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)	BRCA2	Pathogenic	13	32900700	32900700	G	A	reviewed by expert panel	ClinGen:CA023266
Deletion	NM_000059.4(BRCA2):c.5820_5833del (p.Glu1940fs)	BRCA2	Pathogenic	13	32914312	32914325	GAGAAAGTTTCTAAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6048&base_change=del 14,ClinGen:CA023268
Deletion	NM_000059.4(BRCA2):c.5823del (p.Val1942fs)	BRCA2	Pathogenic	13	32914313	32914313	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6051&base_change=del A,ClinGen:CA023272,OMIM:600185.0015
Deletion	NM_000059.4(BRCA2):c.5829_5830del (p.Lys1944fs)	BRCA2	Pathogenic	13	32914321	32914322	CTA	C	reviewed by expert panel	ClinGen:CA023278