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	NG_012772.3:g.(69667_84209)_(88292_?)del	BRCA2	Pathogenic	13	32954283	32972908	na	na	criteria provided, single submitter	-
Deletion	NG_012772.3:g.(?_5001)_(88292_?)del	BRCA2	Pathogenic	13	32889617	32972908	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(?_92501)_(135581_1441370)del	BRCA1	Pathogenic	17	41176312	41277500	na	na	criteria provided, single submitter	ClinVar:373888
Deletion	NG_005905.2:g.(?_92501)_(170342_172181)del	BRCA1	Pathogenic	17	41197820	41277500	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(?_92501)_(168862_170280)del	BRCA1	Pathogenic	17	41199721	41277500	na	na	criteria provided, single submitter	-
Duplication	NG_005905.2:g.(?_92501)_(168862_170280)dup	BRCA1	Pathogenic	17	41199721	41277500	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(?_92501)_(166922_168789)del	BRCA1	Pathogenic	17	41201212	41277500	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(?_92501)_(160933_166866)del	BRCA1	Pathogenic	17	41203135	41277500	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(?_92501)_(154652_160848)del	BRCA1	Pathogenic	17	41209153	41277500	na	na	criteria provided, single submitter	-
Deletion	NG_005905.2:g.(?_92501)_(150377_154032)del	BRCA1	Pathogenic	17	41215969	41277500	na	na	criteria provided, single submitter	-