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.(?_43099755)_(43115799_?)del	BRCA1	Pathogenic	17	41251772	41267816	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41251772)_(41267816_?)dup	BRCA1	Likely pathogenic	17	41251772	41267816	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43104102)_(43115799_?)del	BRCA1	Pathogenic	17	41256119	41267816	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58709849)_(58710000_?)del	RAD51C	Likely pathogenic	17	56787210	56787361	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41201118)_(41203154_?)dup	BRCA1	Likely pathogenic	17	41201118	41203154	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.576+1G>T	RAD51D	Likely pathogenic	17	33433404	33433404	C	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)	BRCA2	Pathogenic	13	32972426	32972426	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)	BRCA2	Likely pathogenic	13	32972434	32972434	C	T	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2706del (p.Glu902fs)	BRCA1	Pathogenic	17	41244842	41244842	AT	A	criteria provided, single submitter	-