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.2603del (p.Thr868fs)	BRCA2	Pathogenic	13	32911095	32911095	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2831&base_change=del C,ClinGen:CA015801
single nucleotide variant	NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)	BRCA2	Pathogenic	13	32911104	32911104	C	A	reviewed by expert panel	ClinGen:CA015821
Indel	NM_000059.4(BRCA2):c.2612delinsTTT (p.Ser871fs)	BRCA2	Pathogenic	13	32911104	32911104	C	TTT	reviewed by expert panel	ClinGen:CA325847
Deletion	NM_000059.4(BRCA2):c.2637_2638del (p.Glu880fs)	BRCA2	Pathogenic	13	32911129	32911130	CTG	C	reviewed by expert panel	ClinGen:CA015917
Deletion	NM_000059.4(BRCA2):c.263del (p.Leu88fs)	BRCA2	Pathogenic	13	32893409	32893409	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):491&base_change=del T,ClinGen:CA015923
Deletion	NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs)	BRCA2	Pathogenic	13	32911143	32911146	TCAGA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2881&base_change=del GACA,ClinGen:CA015942
Deletion	NM_000059.4(BRCA2):c.266del (p.Pro89fs)	BRCA2	Pathogenic	13	32893411	32893411	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):494&base_change=del C,ClinGen:CA015997
Deletion	NM_000059.4(BRCA2):c.2684del (p.Ala895fs)	BRCA2	Pathogenic	13	32911176	32911176	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2912&base_change=del C,ClinGen:CA016067
Deletion	NM_000059.4(BRCA2):c.26del (p.Pro9fs)	BRCA2	Pathogenic	13	32890623	32890623	GC	G	reviewed by expert panel	ClinGen:CA016104,Breast Cancer Information Core (BIC) (BRCA2):254&base_change=del C
Deletion	NM_000059.4(BRCA2):c.2701del (p.Ala902fs)	BRCA2	Pathogenic	13	32911193	32911193	TC	T	reviewed by expert panel	ClinGen:CA016132