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
single nucleotide variant	NM_058216.3(RAD51C):c.571+2T>A	RAD51C	Likely pathogenic	17	56774222	56774222	T	A	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35118491)_(35118629_?)del	RAD51D	Pathogenic	17	33445510	33445648	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43045658)_(43045822_?)del	BRCA1	Pathogenic	17	41197675	41197839	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41209049)_(41215988_?)dup	BRCA1	Likely pathogenic	17	41209049	41215988	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43123997)_(43125483_?)del	BRCA1	Pathogenic	17	41276014	41277500	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58703186)_(58703339_?)del	RAD51C	Pathogenic	17	56780547	56780700	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58709849)_(58734232_?)del	RAD51C	Pathogenic	17	56787210	56811593	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43045658)_(43047723_?)del	BRCA1	Pathogenic	17	41197675	41199740	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063854)_(43125483_?)del	BRCA1	Pathogenic	17	41215871	41277500	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41234401)_(41258570_?)dup	BRCA1	Likely pathogenic	17	41234401	41258570	na	na	criteria provided, single submitter	-