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.(?_43067602)_(43124102_?)del	BRCA1	Pathogenic	17	41219619	41276119	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43070922)_(43076620_?)del	BRCA1	Pathogenic	17	41222939	41228637	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43074325)_(43094866_?)del	BRCA1	Pathogenic	17	41226342	41246883	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41267737)_(41267802_?)dup	BRCA1	Likely pathogenic	17	41267737	41267802	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(?_56769999)_(56787357_?)del	RAD51C	Pathogenic	17	56769999	56787357	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(?_33430267)_(33446638_?)del	RAD51D	Pathogenic	17	33430267	33446638	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063327)_(43063379_?)del	BRCA1	Pathogenic	17	41215344	41215396	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43090938)_(43106539_?)del	BRCA1	Pathogenic	17	41242955	41258556	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43115720)_(43124102_?)del	BRCA1	Pathogenic	17	41267737	41276119	na	na	criteria provided, single submitter	-
Insertion	NM_002878.4(RAD51D):c.461_462insTT (p.Gln155fs)	RAD51D	Pathogenic	17	33434025	33434026	G	GAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656582