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.7230del (p.Phe2410fs)	BRCA2	Pathogenic	13	32929217	32929217	CT	C	reviewed by expert panel	ClinGen:CA658656409
Duplication	NM_000059.4(BRCA2):c.9225dup (p.Gly3076fs)	BRCA2	Pathogenic	13	32954250	32954251	T	TA	criteria provided, single submitter	ClinGen:CA658656443
Duplication	NM_000059.4(BRCA2):c.9423dup (p.Asp3142fs)	BRCA2	Pathogenic	13	32968991	32968992	G	GA	criteria provided, single submitter	ClinGen:CA658656367
single nucleotide variant	NM_000059.4(BRCA2):c.8494G>T (p.Glu2832Ter)	BRCA2	Pathogenic	13	32945099	32945099	G	T	criteria provided, single submitter	ClinGen:CA387752671
single nucleotide variant	NM_000059.4(BRCA2):c.5025T>A (p.Cys1675Ter)	BRCA2	Pathogenic	13	32913517	32913517	T	A	criteria provided, single submitter	ClinGen:CA387783971
Deletion	NM_000059.4(BRCA2):c.8724del (p.Lys2909fs)	BRCA2	Pathogenic/Likely pathogenic	13	32950898	32950898	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656394
single nucleotide variant	NM_000059.4(BRCA2):c.5909C>G (p.Ser1970Ter)	BRCA2	Pathogenic	13	32914401	32914401	C	G	criteria provided, single submitter	ClinGen:CA387787511
single nucleotide variant	NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly)	BRCA2	Likely pathogenic	13	32953938	32953938	A	G	criteria provided, single submitter	ClinGen:CA387757453
Duplication	NM_000059.4(BRCA2):c.9212dup (p.Val3072fs)	BRCA2	Pathogenic/Likely pathogenic	13	32954237	32954238	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656438
Deletion	NM_000059.4(BRCA2):c.6187_6197del (p.Gly2063fs)	BRCA2	Pathogenic	13	32914672	32914682	CAGCAAGTGGAA	C	criteria provided, single submitter	ClinGen:CA658656418