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.6652dup (p.Asp2218fs)	BRCA2	Pathogenic	13	32915143	32915144	A	AG	reviewed by expert panel	ClinGen:CA024258
single nucleotide variant	NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)	BRCA2	Pathogenic	13	32915148	32915148	C	G	reviewed by expert panel	ClinGen:CA024263
Deletion	NM_000059.4(BRCA2):c.6658_6661del (p.Glu2220fs)	BRCA2	Pathogenic	13	32915149	32915152	CAGAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6886&base_change=del GAAA,ClinGen:CA024265
Deletion	NM_000059.4(BRCA2):c.6673del (p.Thr2225fs)	BRCA2	Pathogenic	13	32915163	32915163	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6901&base_change=del A,ClinGen:CA024273
Deletion	NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs)	BRCA2	Pathogenic	13	32915167	32915168	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6904&base_change=del GA,ClinGen:CA024279
Deletion	NM_000059.4(BRCA2):c.6678del (p.Ala2227fs)	BRCA2	Pathogenic	13	32915169	32915169	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6906&base_change=del A,ClinGen:CA024281
Duplication	NM_000059.4(BRCA2):c.6682dup (p.Val2228fs)	BRCA2	Pathogenic	13	32915173	32915174	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6910&base_change=ins G,ClinGen:CA024285
Deletion	NM_000059.4(BRCA2):c.6684del (p.Glu2229fs)	BRCA2	Pathogenic	13	32915176	32915176	TA	T	reviewed by expert panel	ClinGen:CA024290
Deletion	NM_000059.4(BRCA2):c.6688del (p.Ile2230fs)	BRCA2	Pathogenic	13	32915178	32915178	GA	G	reviewed by expert panel	ClinGen:CA024296
single nucleotide variant	NM_000059.4(BRCA2):c.67+1G>A	BRCA2	Pathogenic	13	32890665	32890665	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):295+1&base_change=G to A,ClinGen:CA024334