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.6601del (p.Ser2201fs)	BRCA2	Pathogenic	13	32915089	32915089	CT	C	reviewed by expert panel	ClinGen:CA024201
Deletion	NM_000059.4(BRCA2):c.6603_6604del (p.Asp2202fs)	BRCA2	Pathogenic	13	32915095	32915096	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6831&base_change=del TG,ClinGen:CA024205
Deletion	NM_000059.4(BRCA2):c.6627_6634del (p.Ile2209fs)	BRCA2	Pathogenic	13	32915118	32915125	ATAGAAGTT	A	reviewed by expert panel	ClinGen:CA024226
Deletion	NM_000059.4(BRCA2):c.6629_6630del (p.Glu2210fs)	BRCA2	Pathogenic	13	32915121	32915122	GAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6857&base_change=del AA,ClinGen:CA024228
Deletion	NM_000059.4(BRCA2):c.662_663del (p.Phe221fs)	BRCA2	Pathogenic	13	32903609	32903610	ATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):890&base_change=del TT,ClinGen:CA024217
Deletion	NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs)	BRCA2	Pathogenic	13	32915123	32915126	AGTTT	A	reviewed by expert panel	ClinGen:CA024232
Deletion	NM_000059.4(BRCA2):c.6635_6636del (p.Cys2212fs)	BRCA2	Pathogenic	13	32915126	32915127	TTG	T	reviewed by expert panel	ClinGen:CA024234
Deletion	NM_000059.4(BRCA2):c.6638del (p.Ser2213fs)	BRCA2	Pathogenic	13	32915130	32915130	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6866&base_change=del C,ClinGen:CA024238
Deletion	NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)	BRCA2	Pathogenic	13	32915134	32915134	CT	C	reviewed by expert panel	ClinGen:CA024245,Breast Cancer Information Core (BIC) (BRCA2):6871&base_change=del T
Duplication	NM_000059.4(BRCA2):c.6644dup (p.Tyr2215Ter)	BRCA2	Pathogenic	13	32915135	32915136	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6872&base_change=ins A,ClinGen:CA024247