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.(?_43070908)_(43125483_?)del	BRCA1	Pathogenic	17	41222925	41277500	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43104848)_(43106553_?)del	BRCA1	Pathogenic	17	41256865	41258570	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58692634)_(58692798_?)del	RAD51C	Pathogenic	17	56769995	56770159	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58703186)_(58734232_?)del	RAD51C	Pathogenic	17	56780547	56811593	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58720736)_(58734232_?)del	RAD51C	Pathogenic	17	56798097	56811593	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32319345_?)del	BRCA2	Pathogenic	13	32889617	32893482	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32329423)_(32398790_?)del	BRCA2	Pathogenic	13	32903560	32972927	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32362503)_(32398790_?)del	BRCA2	Pathogenic	13	32936640	32972927	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.213-2A>T	BRCA1	Pathogenic	17	41256975	41256975	T	A	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35100943)_(35103554_?)del	RAD51D	Pathogenic	17	33427962	33430573	na	na	criteria provided, single submitter	-