single nucleotide variant | NM_000321.3(RB1):c.1389+5G>C | RB1 | Likely pathogenic | 13 | 48953791 | 48953791 | G | C | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer) | RB1 | Pathogenic | 13 | 49050840 | 49050841 | TTC | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000321.3(RB1):c.1294A>T (p.Lys432Ter) | RB1 | Pathogenic | 13 | 48951132 | 48951132 | A | T | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.371_372del (p.Ile124fs) | RB1 | Pathogenic | 13 | 48916840 | 48916841 | CAT | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000321.3(RB1):c.92dup (p.Asp32fs) | RB1 | Pathogenic | 13 | 48878139 | 48878140 | G | GA | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.1789C>T (p.Gln597Ter) | RB1 | Pathogenic | 13 | 49027222 | 49027222 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.1499-2A>C | RB1 | Pathogenic | 13 | 48955381 | 48955381 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.1183C>T (p.Gln395Ter) | RB1 | Pathogenic | 13 | 48947596 | 48947596 | C | T | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.951_954del (p.Ser318fs) | RB1 | Pathogenic | 13 | 48941638 | 48941641 | ATCTT | A | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.800del (p.Leu267fs) | RB1 | Pathogenic | 13 | 48937032 | 48937032 | CT | C | criteria provided, single submitter | - |