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.5466dup (p.Lys1823Ter)	BRCA2	Pathogenic	13	32913957	32913958	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5694&base_change=ins T,ClinGen:CA022369
Deletion	NM_000059.4(BRCA2):c.5471del (p.Asn1824fs)	BRCA2	Pathogenic	13	32913959	32913959	TA	T	reviewed by expert panel	ClinGen:CA022402
Deletion	NM_000059.4(BRCA2):c.5526del (p.Ala1843fs)	BRCA2	Pathogenic	13	32914018	32914018	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5754&base_change=del T,ClinGen:CA022497
Deletion	NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)	BRCA2	Pathogenic	13	32914034	32914034	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5770&base_change=del A,ClinGen:CA022522
single nucleotide variant	NM_000059.4(BRCA2):c.5569G>T (p.Glu1857Ter)	BRCA2	Pathogenic	13	32914061	32914061	G	T	reviewed by expert panel	ClinGen:CA022581
Deletion	NM_000059.4(BRCA2):c.5569_5573del (p.Glu1857fs)	BRCA2	Pathogenic	13	32914061	32914065	TGAAAC	T	reviewed by expert panel	ClinGen:CA022576
Deletion	NM_000059.4(BRCA2):c.5577_5580del (p.Lys1860_Lys1861insTer)	BRCA2	Pathogenic	13	32914069	32914072	TTAAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5805&base_change=del TAAA,ClinGen:CA022608
Deletion	NM_000059.4(BRCA2):c.5580_5584del (p.Lys1860fs)	BRCA2	Pathogenic	13	32914072	32914076	AAAAAG	A	reviewed by expert panel	ClinGen:CA022622
Duplication	NM_000059.4(BRCA2):c.5583dup (p.Val1862fs)	BRCA2	Pathogenic	13	32914069	32914070	T	TA	reviewed by expert panel	ClinGen:CA022630
Deletion	NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs)	BRCA2	Pathogenic	13	32914077	32914080	GTGAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5813&base_change=del TGAA,ClinGen:CA022642