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.410del (p.Ser137fs)	BRCA2	Pathogenic	13	32899306	32899306	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):638&base_change=del C,ClinGen:CA019541
single nucleotide variant	NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)	BRCA2	Pathogenic	13	32912603	32912603	C	T	reviewed by expert panel	ClinGen:CA019545
Deletion	NM_000059.4(BRCA2):c.4121del (p.Lys1374fs)	BRCA2	Pathogenic	13	32912612	32912612	GA	G	reviewed by expert panel	ClinGen:CA019557
Deletion	NM_000059.4(BRCA2):c.4130del (p.Asn1377fs)	BRCA2	Pathogenic	13	32912620	32912620	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4358&base_change=del A,ClinGen:CA019568
Deletion	NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)	BRCA2	Pathogenic	13	32912623	32912626	ACACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4361&base_change=del CTCA,ClinGen:CA019576
Duplication	NM_000059.4(BRCA2):c.4136dup (p.Ile1380fs)	BRCA2	Pathogenic	13	32912627	32912628	C	CA	reviewed by expert panel	ClinGen:CA019581
Deletion	NM_000059.4(BRCA2):c.4137_4141del (p.Ile1380fs)	BRCA2	Pathogenic	13	32912628	32912632	CAGATT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4365&base_change=del GATTA,ClinGen:CA019585
Duplication	NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)	BRCA2	Pathogenic	13	32912630	32912631	A	ATT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4366&base_change=ins TT,ClinGen:CA019589
Deletion	NM_000059.4(BRCA2):c.4151del (p.Leu1384fs)	BRCA2	Pathogenic	13	32912641	32912641	AT	A	reviewed by expert panel	ClinGen:CA019620
Deletion	NM_000059.4(BRCA2):c.4169del (p.Leu1390fs)	BRCA2	Pathogenic	13	32912656	32912656	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4397&base_change=del T,ClinGen:CA019655