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.6405_6409del (p.Asn2135fs)	BRCA2	Pathogenic	13	32914894	32914898	ATAACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6630&base_change=del TAACT,Breast Cancer Information Core (BIC) (BRCA2):6633&base_change=del CTTAA,ClinGen:CA023991
Deletion	NM_000059.4(BRCA2):c.6434_6441del (p.Asn2145fs)	BRCA2	Pathogenic	13	32914926	32914933	AATAATCAC	A	reviewed by expert panel	ClinGen:CA024026
Duplication	NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs)	BRCA2	Pathogenic	13	32914935	32914936	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6672&base_change=ins T,ClinGen:CA024044
Insertion	NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs)	BRCA2	Pathogenic	13	32915027	32915028	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6763&base_change=ins A,ClinGen:CA024147
Duplication	NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)	BRCA2	Pathogenic	13	32915053	32915054	T	TA	reviewed by expert panel	ClinGen:CA024170
Duplication	NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)	BRCA2	Pathogenic	13	32915133	32915133	A	AC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6869&base_change=ins C,ClinGen:CA024243
Deletion	NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)	BRCA2	Pathogenic	13	32915136	32915139	TACTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6872&base_change=del ACTC,ClinGen:CA024249
Deletion	NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)	BRCA2	Pathogenic	13	32915215	32915216	CAG	C	reviewed by expert panel	ClinGen:CA024340
single nucleotide variant	NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)	BRCA2	Pathogenic	13	32905062	32905062	A	T	reviewed by expert panel	ClinGen:CA024542
Deletion	NM_000059.4(BRCA2):c.6941del (p.Thr2314fs)	BRCA2	Pathogenic	13	32920967	32920967	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7169&base_change=del C,ClinGen:CA024598