Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NG_005905.2:g.(?_92501)_(150377_154032)del | BRCA1 | Pathogenic | 17 | 41215969 | 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)_(160933_166866)del | BRCA1 | Pathogenic | 17 | 41203135 | 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 | - |
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)_(168862_170280)del | BRCA1 | Pathogenic | 17 | 41199721 | 41277500 | na | na | criteria provided, single submitter | - |
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)_(135581_1441370)del | BRCA1 | Pathogenic | 17 | 41176312 | 41277500 | na | na | criteria provided, single submitter | ClinVar:373888 |
Deletion | NM_007294.3(BRCA1):c.?-232_4484+?del | BRCA1 | Pathogenic | 17 | 41228505 | 41277500 | na | na | criteria provided, single submitter | - |
Deletion | Single allele | BRCA1 | Pathogenic | 17 | 41215969 | 41277341 | na | na | criteria provided, single submitter | - |