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
Duplication	NM_000059.4(BRCA2):c.1540dup (p.Glu514fs)	BRCA2	Pathogenic	13	32907154	32907155	A	AG	reviewed by expert panel	ClinGen:CA012328
Deletion	NM_000059.4(BRCA2):c.1547del (p.Phe516fs)	BRCA2	Pathogenic	13	32907160	32907160	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1775&base_change=del T,ClinGen:CA012365
Deletion	NM_000059.4(BRCA2):c.1572del (p.Met524fs)	BRCA2	Pathogenic	13	32907187	32907187	TG	T	reviewed by expert panel	ClinGen:CA012466
single nucleotide variant	NM_000059.4(BRCA2):c.1594G>T (p.Glu532Ter)	BRCA2	Pathogenic	13	32907209	32907209	G	T	reviewed by expert panel	ClinGen:CA012541
Deletion	NM_000059.4(BRCA2):c.1595_1599del (p.Glu532fs)	BRCA2	Pathogenic	13	32907210	32907214	GAAACT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1823&base_change=del AAACT,ClinGen:CA012550
Deletion	NM_000059.4(BRCA2):c.1596_1597del (p.Glu532fs)	BRCA2	Pathogenic	13	32907210	32907211	GAA	G	reviewed by expert panel	ClinGen:CA012560
Deletion	NM_000059.4(BRCA2):c.1597del (p.Thr533fs)	BRCA2	Pathogenic	13	32907210	32907210	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1825&base_change=del A,ClinGen:CA012572
Deletion	NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs)	BRCA2	Pathogenic	13	32907214	32907215	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1827&base_change=del TG,ClinGen:CA012586
Deletion	NM_000059.4(BRCA2):c.1612_1613del (p.Ser538fs)	BRCA2	Pathogenic	13	32907227	32907228	AAG	A	reviewed by expert panel	ClinGen:CA012626
Deletion	NM_000059.4(BRCA2):c.1617del (p.Leu540fs)	BRCA2	Pathogenic	13	32907232	32907232	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1845&base_change=del A,ClinGen:CA012633