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.(?_43104848)_(43106553_?)del	BRCA1	Pathogenic	17	41256865	41258570	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43070908)_(43125483_?)del	BRCA1	Pathogenic	17	41222925	41277500	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41219605)_(41219732_?)dup	BRCA1	Pathogenic	17	41219605	41219732	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35100943)_(35101046_?)del	RAD51D	Likely pathogenic	17	33427962	33428065	na	na	criteria provided, single submitter	-
Indel	NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)	RAD51C	Pathogenic	17	56774096	56774097	AG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)	RAD51C	Pathogenic	17	56770055	56770056	TCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41276044	41276044	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp)	BRCA1	Pathogenic	17	41276042	41276042	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)	BRCA1	Likely pathogenic	17	41267745	41267745	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41258546	41258546	A	G	criteria provided, multiple submitters, no conflicts	-