Deletion | NM_000321.3(RB1):c.1629_1630del (p.Glu545fs) | RB1 | Pathogenic | 13 | 48955513 | 48955514 | CAA | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000321.3(RB1):c.1625T>A (p.Leu542Ter) | RB1 | Pathogenic | 13 | 48955509 | 48955509 | T | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000321.3(RB1):c.1512_1513del (p.Asn505fs) | RB1 | Pathogenic | 13 | 48955395 | 48955396 | CAG | C | criteria provided, single submitter | - |
Duplication | NM_000321.3(RB1):c.1331_1332dup (p.Arg445fs) | RB1 | Pathogenic | 13 | 48951168 | 48951169 | C | CAG | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.859G>T (p.Glu287Ter) | RB1 | Pathogenic | 13 | 48937091 | 48937091 | G | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000321.3(RB1):c.849_856del (p.Cys283_Asp286delinsTer) | RB1 | Pathogenic | 13 | 48937080 | 48937087 | TGTAATATA | T | criteria provided, single submitter | - |
Duplication | NM_000321.3(RB1):c.726dup (p.Val243fs) | RB1 | Pathogenic | 13 | 48936957 | 48936958 | C | CT | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.272_276del (p.Tyr91fs) | RB1 | Pathogenic | 13 | 48916740 | 48916744 | GTTATA | G | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.45_76del (p.Ala17fs) | RB1 | Pathogenic | 13 | 48878081 | 48878112 | CCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.1696-2A>G | RB1 | Likely pathogenic | 13 | 49027127 | 49027127 | A | G | criteria provided, single submitter | - |