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.7474_7475del (p.Asp2492fs)	BRCA2	Pathogenic	13	32930603	32930604	GGA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7702&base_change=del GA,ClinGen:CA025107
Deletion	NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer)	BRCA2	Pathogenic	13	32905122	32905122	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):976&base_change=del G,ClinGen:CA025114
Deletion	NM_000059.4(BRCA2):c.7538del (p.Ala2513fs)	BRCA2	Pathogenic	13	32930667	32930667	GC	G	reviewed by expert panel	ClinGen:CA025137
Deletion	NM_000059.4(BRCA2):c.7543del (p.Thr2515fs)	BRCA2	Pathogenic	13	32930668	32930668	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7771&base_change=del A,ClinGen:CA025139
Deletion	NM_000059.4(BRCA2):c.7544del (p.Thr2515fs)	BRCA2	Pathogenic	13	32930673	32930673	AC	A	reviewed by expert panel	ClinGen:CA025141
single nucleotide variant	NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)	BRCA2	Pathogenic	13	32930687	32930687	C	T	reviewed by expert panel	ClinGen:CA025146
Deletion	NM_000059.4(BRCA2):c.755del (p.Asp252fs)	BRCA2	Pathogenic	13	32905129	32905129	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):983&base_change=del A,ClinGen:CA025150
Deletion	NM_000059.4(BRCA2):c.756_759del (p.Asp252fs)	BRCA2	Pathogenic	13	32905130	32905133	ACAGT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):984&base_change=del CAGT,ClinGen:CA025156
Deletion	NM_000059.4(BRCA2):c.7593del (p.Ser2533fs)	BRCA2	Pathogenic	13	32930721	32930721	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7821&base_change=del T,ClinGen:CA025166
single nucleotide variant	NM_000059.4(BRCA2):c.7612A>T (p.Lys2538Ter)	BRCA2	Pathogenic	13	32930741	32930741	A	T	reviewed by expert panel	ClinGen:CA025180