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.4551_4593del (p.Glu1518fs)	BRCA2	Pathogenic	13	32913041	32913083	CAAAGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAA	C	criteria provided, single submitter	ClinGen:CA658798091
Duplication	NM_000059.4(BRCA2):c.4810dup (p.Leu1604fs)	BRCA2	Pathogenic	13	32913300	32913301	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798097
single nucleotide variant	NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter)	BRCA2	Pathogenic	13	32913567	32913567	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784070
Duplication	NM_000059.4(BRCA2):c.6690dup (p.Ala2231fs)	BRCA2	Pathogenic	13	32915180	32915181	A	AT	criteria provided, single submitter	ClinGen:CA658798084
Deletion	NM_000059.3(BRCA2):c.9257delG	BRCA2	Pathogenic	13	32968825	32968825	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798088
Deletion	NC_000017.11:g.(?_43074325)_(43115785_?)del	BRCA1	Pathogenic	17	41226342	41267802	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43057046)_(43074527_?)del	BRCA1	Pathogenic	17	41209063	41226544	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41234415)_(41258556_?)dup	BRCA1	Likely pathogenic	17	41234415	41258556	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43095840)_(43106539_?)del	BRCA1	Pathogenic	17	41247857	41258556	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43099769)_(43124102_?)del	BRCA1	Pathogenic	17	41251786	41276119	na	na	criteria provided, single submitter	-