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
Duplication	NC_000013.10:g.(?_32913706)_(32934992_?)dup	BRCA2	Pathogenic	13	32913706	32934992	na	na	criteria provided, single submitter	-
Deletion	NC_000013.10:g.(?_32920958)_(32921039_?)del	BRCA2	Pathogenic	13	32920958	32921039	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32392886)_(32394725_?)del	BRCA2	Pathogenic	13	32967023	32968862	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu)	BRCA2	Likely pathogenic	13	32954181	32954181	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757934
Deletion	NM_000059.4(BRCA2):c.9290_9293del (p.Cys3097fs)	BRCA2	Pathogenic	13	32968859	32968862	TGTTA	T	criteria provided, single submitter	ClinGen:CA658656354
single nucleotide variant	NM_000059.4(BRCA2):c.4211C>A (p.Ser1404Ter)	BRCA2	Pathogenic	13	32912703	32912703	C	A	criteria provided, single submitter	ClinGen:CA387780259
Deletion	NM_000059.4(BRCA2):c.5192_5193del (p.His1731fs)	BRCA2	Pathogenic	13	32913684	32913685	CAT	C	criteria provided, single submitter	ClinGen:CA658656380
Duplication	NM_000059.4(BRCA2):c.5472dup (p.Ala1825fs)	BRCA2	Pathogenic	13	32913963	32913964	A	AT	criteria provided, single submitter	ClinGen:CA658656393
single nucleotide variant	NM_000059.4(BRCA2):c.5750C>G (p.Ser1917Ter)	BRCA2	Pathogenic	13	32914242	32914242	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387787011
Duplication	NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs)	BRCA2	Pathogenic	13	32930707	32930708	A	AGTAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656436