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.8773C>T (p.Gln2925Ter)	BRCA2	Pathogenic	13	32953472	32953472	C	T	reviewed by expert panel	ClinGen:CA025822
Deletion	NM_000059.4(BRCA2):c.8789del (p.Asn2930fs)	BRCA2	Pathogenic	13	32953487	32953487	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9017&base_change=del A,ClinGen:CA025827
single nucleotide variant	NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)	BRCA2	Pathogenic	13	32906495	32906495	G	T	reviewed by expert panel	ClinGen:CA025833
Deletion	NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)	BRCA2	Pathogenic	13	32953514	32953517	TAAGA	T	reviewed by expert panel	ClinGen:CA025834
Deletion	NM_000059.4(BRCA2):c.8820_8823del (p.Gln2941fs)	BRCA2	Pathogenic	13	32953517	32953520	GAAAC	G	reviewed by expert panel	ClinGen:CA025836
single nucleotide variant	NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter)	BRCA2	Pathogenic	13	32953520	32953520	C	T	reviewed by expert panel	ClinGen:CA025837
Insertion	NM_000059.4(BRCA2):c.8827_8828insG (p.Gln2943fs)	BRCA2	Pathogenic	13	32953526	32953527	C	CG	reviewed by expert panel	ClinGen:CA025841
Deletion	NM_000059.4(BRCA2):c.8842del (p.Ile2948fs)	BRCA2	Pathogenic	13	32953539	32953539	GA	G	reviewed by expert panel	ClinGen:CA025847
Deletion	NM_000059.4(BRCA2):c.8848_8851del (p.Lys2950fs)	BRCA2	Pathogenic	13	32953544	32953547	TAGGA	T	reviewed by expert panel	ClinGen:CA025848
Indel	NM_000059.4(BRCA2):c.8848delinsCT (p.Lys2950fs)	BRCA2	Pathogenic	13	32953547	32953547	A	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9076&base_change=del A ins CT,ClinGen:CA269340