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.7024C>T (p.Gln2342Ter)	BRCA2	Pathogenic	13	32929014	32929014	C	T	reviewed by expert panel	ClinGen:CA024765
Deletion	NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs)	BRCA2	Pathogenic	13	32929015	32929016	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7253&base_change=del AA,ClinGen:CA024768
Deletion	NM_000059.4(BRCA2):c.702del (p.Asn235fs)	BRCA2	Pathogenic	13	32905075	32905075	TC	T	reviewed by expert panel	ClinGen:CA024773
Duplication	NM_000059.4(BRCA2):c.7032dup (p.Gln2345fs)	BRCA2	Pathogenic	13	32929021	32929022	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7260&base_change=ins A,ClinGen:CA024776
Deletion	NM_000059.4(BRCA2):c.7047del (p.Phe2349fs)	BRCA2	Pathogenic	13	32929034	32929034	AT	A	reviewed by expert panel	ClinGen:CA024786
single nucleotide variant	NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)	BRCA2	Pathogenic	13	32929050	32929050	C	T	reviewed by expert panel	ClinGen:CA024825
Deletion	NM_000059.4(BRCA2):c.7067_7068del (p.Phe2356fs)	BRCA2	Pathogenic	13	32929056	32929057	ATT	A	reviewed by expert panel	ClinGen:CA024828
Duplication	NM_000059.4(BRCA2):c.7082_7100dup (p.Thr2367_Leu2368insPheValTer)	BRCA2	Pathogenic	13	32929070	32929071	T	TCATTTGTATGAACATCTGA	reviewed by expert panel	ClinGen:CA325947
Deletion	NM_000059.4(BRCA2):c.7092del (p.Glu2364fs)	BRCA2	Pathogenic	13	32929081	32929081	GA	G	reviewed by expert panel	ClinGen:CA024861
Deletion	NM_000059.4(BRCA2):c.7110del (p.Lys2370fs)	BRCA2	Pathogenic	13	32929096	32929096	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7338&base_change=del A,ClinGen:CA024879