Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000321.3(RB1):c.2663+2T>C | RB1 | Pathogenic | 13 | 49050981 | 49050981 | T | C | criteria provided, single submitter | ClinGen:CA026445 |
Deletion | NC_000013.11:g.(?_48476691)_(48477414_?)del | RB1 | Pathogenic | 13 | 49050827 | 49051550 | na | na | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_48303907)_(48480077_?)del | RB1 | Pathogenic | 13 | 48878043 | 49054213 | na | na | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_48303903)_(48480081_?)del | RB1 | Pathogenic | 13 | 48878039 | 49054217 | na | na | criteria provided, single submitter | - |