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.(?_58720740)_(58720818_?)del	RAD51C	Pathogenic	17	56798101	56798179	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43045672)_(43106539_?)del	BRCA1	Pathogenic	17	41197689	41258556	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.685C>T (p.Gln229Ter)	RAD51D	Pathogenic	17	33430326	33430326	G	A	criteria provided, single submitter	ClinGen:CA399087718
single nucleotide variant	NM_002878.4(RAD51D):c.351T>A (p.Cys117Ter)	RAD51D	Pathogenic	17	33434136	33434136	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399089400
Deletion	NM_002878.4(RAD51D):c.210_229del (p.Tyr72fs)	RAD51D	Pathogenic	17	33445554	33445573	GTCTTCAGTTCCTCGTAGAGA	G	criteria provided, single submitter	ClinGen:CA658798816
Deletion	NC_000017.11:g.(?_43051057)_(43051123_?)del	BRCA1	Pathogenic	17	41203074	41203140	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063868)_(43124102_?)del	BRCA1	Pathogenic	17	41215885	41276119	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58709853)_(58709996_?)del	RAD51C	Likely pathogenic	17	56787214	56787357	na	na	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.5155_5158dup (p.Thr1720fs)	BRCA1	Pathogenic	17	41215384	41215385	G	GTCAC	criteria provided, single submitter	ClinGen:CA658798068
Duplication	NM_007294.4(BRCA1):c.5137dup (p.Val1713fs)	BRCA1	Pathogenic	17	41215905	41215906	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798070