single nucleotide variant | NM_000321.3(RB1):c.1049+1G>T | RB1 | Likely pathogenic | 13 | 48941740 | 48941740 | G | T | criteria provided, single submitter | ClinGen:CA026361,OMIM:614041.0007 |
single nucleotide variant | NM_000321.3(RB1):c.1960+5G>A | RB1 | Likely pathogenic | 13 | 49030490 | 49030490 | G | A | criteria provided, single submitter | ClinGen:CA026412 |
Deletion | NM_000321.3(RB1):c.1421+12_1421+32del | RB1 | Likely pathogenic | 13 | 48954223 | 48954243 | TAAATTTTTTACTTTTAGTAAA | T | criteria provided, single submitter | ClinGen:CA269950 |
Deletion | NC_000013.11:g.(?_48379594)_(48381443_?)del | RB1 | Likely pathogenic | 13 | 48953730 | 48955579 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.380G>A (p.Ser127Asn) | RB1 | Likely pathogenic | 13 | 48916850 | 48916850 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA388252575 |
single nucleotide variant | NM_000321.3(RB1):c.380G>C (p.Ser127Thr) | RB1 | Likely pathogenic | 13 | 48916850 | 48916850 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA388252576 |
single nucleotide variant | NM_000321.3(RB1):c.1389+4A>C | RB1 | Likely pathogenic | 13 | 48953790 | 48953790 | A | C | criteria provided, single submitter | ClinGen:CA645369546 |
single nucleotide variant | NM_000321.3(RB1):c.1498+1G>A | RB1 | Likely pathogenic | 13 | 48954378 | 48954378 | G | A | criteria provided, single submitter | ClinGen:CA388162927 |
single nucleotide variant | NM_000321.3(RB1):c.2107-1G>A | RB1 | Likely pathogenic | 13 | 49037866 | 49037866 | G | A | criteria provided, single submitter | ClinGen:CA388166993 |
single nucleotide variant | NM_000321.3(RB1):c.1411C>T (p.Gln471Ter) | RB1 | Likely pathogenic | 13 | 48954210 | 48954210 | C | T | criteria provided, single submitter | ClinGen:CA388162715 |