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
single nucleotide variant	NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter)	BRCA2	Pathogenic	13	32905107	32905107	A	T	reviewed by expert panel	ClinGen:CA025035
Deletion	NM_000059.4(BRCA2):c.7360del (p.Ile2454fs)	BRCA2	Pathogenic	13	32929350	32929350	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7588&base_change=del A,ClinGen:CA025043
single nucleotide variant	NM_000059.4(BRCA2):c.7375A>T (p.Lys2459Ter)	BRCA2	Pathogenic	13	32929365	32929365	A	T	reviewed by expert panel	ClinGen:CA025046
Deletion	NM_000059.4(BRCA2):c.7379del (p.Asn2460fs)	BRCA2	Pathogenic	13	32929365	32929365	CA	C	reviewed by expert panel	ClinGen:CA025050
Deletion	NM_000059.4(BRCA2):c.7408_7409del (p.Phe2470fs)	BRCA2	Pathogenic	13	32929397	32929398	CTT	C	reviewed by expert panel	ClinGen:CA025058
Duplication	NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)	BRCA2	Pathogenic	13	32929396	32929397	C	CT	reviewed by expert panel	ClinGen:CA025059
single nucleotide variant	NM_000059.4(BRCA2):c.7436-2A>T	BRCA2	Pathogenic	13	32930563	32930563	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025085
Deletion	NM_000059.4(BRCA2):c.7443del (p.Thr2482fs)	BRCA2	Pathogenic	13	32930571	32930571	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7671&base_change=del T,ClinGen:CA025092
Duplication	NM_000059.4(BRCA2):c.7467dup (p.Ile2490fs)	BRCA2	Pathogenic	13	32930595	32930596	A	AT	reviewed by expert panel	ClinGen:CA025102
single nucleotide variant	NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)	BRCA2	Pathogenic	13	32930600	32930600	C	T	reviewed by expert panel	ClinGen:CA025106