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
single nucleotide variant	NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)	BRCA2	Pathogenic	13	32912735	32912735	G	T	reviewed by expert panel	ClinGen:CA019770
Duplication	NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs)	BRCA2	Pathogenic	13	32912767	32912768	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4504&base_change=ins A,ClinGen:CA019892
Duplication	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2	Pathogenic	13	32912770	32912771	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4510&base_change=ins T,Breast Cancer Information Core (BIC) (BRCA2):4512&base_change=ins T,ClinGen:CA019907
Deletion	NM_000059.4(BRCA2):c.4319_4320del (p.Lys1440fs)	BRCA2	Pathogenic	13	32912810	32912811	CAA	C	reviewed by expert panel	ClinGen:CA019975
Deletion	NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)	BRCA2	Pathogenic	13	32912897	32912901	CTGACA	C	reviewed by expert panel	ClinGen:CA020098
Deletion	NM_000059.4(BRCA2):c.4414_4415del (p.Lys1472fs)	BRCA2	Pathogenic	13	32912905	32912906	GAA	G	reviewed by expert panel	ClinGen:CA020140
Deletion	NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)	BRCA2	Pathogenic	13	32912941	32912941	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4677&base_change=del A,ClinGen:CA020195
Duplication	NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs)	BRCA2	Pathogenic	13	32912961	32912962	T	TA	reviewed by expert panel	ClinGen:CA020221
Deletion	NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs)	BRCA2	Pathogenic	13	32912964	32912967	CTGAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4700&base_change=del TGAA,ClinGen:CA020231
Duplication	NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs)	BRCA2	Pathogenic	13	32913118	32913119	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4859&base_change=ins A,ClinGen:CA020554