Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000017.11:g.(?_58732474)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56809835 | 56811593 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_58692634)_(58710000_?)del | RAD51C | Pathogenic | 17 | 56769995 | 56787361 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43104102)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41256119 | 41277500 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43074311)_(43115799_?)del | BRCA1 | Pathogenic | 17 | 41226328 | 41267816 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43047623)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41199640 | 41277500 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_35100943)_(35103554_?)del | RAD51D | Pathogenic | 17 | 33427962 | 33430573 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_007294.4(BRCA1):c.213-2A>T | BRCA1 | Pathogenic | 17 | 41256975 | 41256975 | T | A | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_58720736)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56798097 | 56811593 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_58703186)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56780547 | 56811593 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_58692634)_(58692798_?)del | RAD51C | Pathogenic | 17 | 56769995 | 56770159 | na | na | criteria provided, single submitter | - |