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.6068_6072del (p.Asp2023fs)	BRCA2	Pathogenic	13	32914557	32914561	TCAGAC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6296&base_change=del ACCAG,ClinGen:CA023594
single nucleotide variant	NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter)	BRCA2	Pathogenic	13	32914562	32914562	C	T	reviewed by expert panel	ClinGen:CA023597
Deletion	NM_000059.4(BRCA2):c.6071del (p.Gln2024fs)	BRCA2	Pathogenic	13	32914563	32914563	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6299&base_change=del A,ClinGen:CA023605
Deletion	NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs)	BRCA2	Pathogenic	13	32914570	32914571	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6306&base_change=del AA,ClinGen:CA023610
Duplication	NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs)	BRCA2	Pathogenic	13	32914571	32914571	C	CA	reviewed by expert panel	ClinGen:CA023617
single nucleotide variant	NM_000059.4(BRCA2):c.6082G>T (p.Glu2028Ter)	BRCA2	Pathogenic	13	32914574	32914574	G	T	reviewed by expert panel	ClinGen:CA023631
Deletion	NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)	BRCA2	Pathogenic	13	32914570	32914574	CAAGAG	C	reviewed by expert panel	ClinGen:CA023627,Breast Cancer Information Core (BIC) (BRCA2):6310&base_change=del GAAGA
single nucleotide variant	NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter)	BRCA2	Pathogenic	13	32914577	32914577	G	T	reviewed by expert panel	ClinGen:CA023634
Duplication	NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs)	BRCA2	Pathogenic	13	32914587	32914588	C	CT	reviewed by expert panel	ClinGen:CA023644
Deletion	NM_000059.4(BRCA2):c.6103del (p.Thr2035fs)	BRCA2	Pathogenic	13	32914595	32914595	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6331&base_change=del A,ClinGen:CA023657