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.(?_43047623)_(43125483_?)del	BRCA1	Pathogenic	17	41199640	41277500	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43074311)_(43115799_?)del	BRCA1	Pathogenic	17	41226328	41267816	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6841+1G>A	BRCA2	Likely pathogenic	13	32915334	32915334	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_43104102)_(43125483_?)del	BRCA1	Pathogenic	17	41256119	41277500	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7008-1G>C	BRCA2	Pathogenic	13	32928997	32928997	G	C	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58692634)_(58710000_?)del	RAD51C	Pathogenic	17	56769995	56787361	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58732474)_(58734232_?)del	RAD51C	Pathogenic	17	56809835	56811593	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.5074+2T>A	BRCA1	Pathogenic	17	41219623	41219623	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_43067588)_(43125483_?)del	BRCA1	Pathogenic	17	41219605	41277500	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41251772)_(41251917_?)dup	BRCA1	Likely pathogenic	17	41251772	41251917	na	na	criteria provided, single submitter	-