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.4477_4478del (p.Glu1493fs)	BRCA2	Pathogenic	13	32912968	32912969	AAG	A	reviewed by expert panel	ClinGen:CA020240
Duplication	NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)	BRCA2	Pathogenic	13	32913403	32913404	T	TA	reviewed by expert panel	ClinGen:CA196801
Indel	NM_000059.4(BRCA2):c.5221_5225delinsC (p.Ser1741fs)	BRCA2	Pathogenic	13	32913713	32913717	AGTAA	C	reviewed by expert panel	ClinGen:CA021771
Deletion	NM_000059.4(BRCA2):c.5353del (p.Thr1785fs)	BRCA2	Pathogenic	13	32913845	32913845	CA	C	reviewed by expert panel	ClinGen:CA022135
Duplication	NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter)	BRCA2	Pathogenic	13	32913987	32913988	C	CT	reviewed by expert panel	ClinGen:CA198047
single nucleotide variant	NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter)	BRCA2	Pathogenic	13	32914127	32914127	G	T	reviewed by expert panel	ClinGen:CA022785
Deletion	NM_000059.4(BRCA2):c.5763del (p.Phe1921fs)	BRCA2	Pathogenic	13	32914251	32914251	GT	G	reviewed by expert panel	ClinGen:CA023173
Deletion	NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs)	BRCA2	Pathogenic	13	32914354	32914355	CTT	C	reviewed by expert panel	ClinGen:CA023313
Duplication	NM_000059.4(BRCA2):c.5934dup (p.Ser1979Ter)	BRCA2	Pathogenic	13	32914421	32914422	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6158&base_change=ins T,ClinGen:CA023382
single nucleotide variant	NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)	BRCA2	Pathogenic	13	32914647	32914647	C	A	reviewed by expert panel	ClinGen:CA023704