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	NC_000017.11:g.(?_58720746)_(58734342_?)del	RAD51C	Pathogenic	17	56798107	56811703	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.4358-?_5074+?del	BRCA1	Likely pathogenic	17	41219625	41228631	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41228505)_(41234592_?)dup	BRCA1	Likely pathogenic	17	41228505	41234592	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.185C>A (p.Ser62Ter)	RAD51D	Pathogenic	17	33445598	33445598	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615337
Deletion	NC_000017.11:g.(?_43044295)_(43099880_?)del	BRCA1	Pathogenic	17	41196312	41251897	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.5278-?_5406+?del	BRCA1	Pathogenic	17	41201138	41203134	na	na	criteria provided, single submitter	-
Duplication	NM_007294.3(BRCA1):c.5278-?_5406+?dup129	BRCA1	Likely pathogenic	17	41201138	41203134	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.5075-?_5193+?del	BRCA1	Pathogenic	17	41215350	41215968	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.4676-?_4986+?del	BRCA1	Pathogenic	17	41222945	41223255	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58703196)_(58709990_?)del	RAD51C	Pathogenic	17	56780557	56787351	na	na	criteria provided, single submitter	-