Deletion | NM_000321.3(RB1):c.1419del (p.Phe473fs) | RB1 | Pathogenic/Likely pathogenic | 13 | 48954215 | 48954215 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683873 |
single nucleotide variant | NM_000321.3(RB1):c.1390-2A>G | RB1 | Pathogenic/Likely pathogenic | 13 | 48954187 | 48954187 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA388162661 |
single nucleotide variant | NM_000321.3(RB1):c.2520+5G>A | RB1 | Pathogenic/Likely pathogenic | 13 | 49047531 | 49047531 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369529 |
single nucleotide variant | NM_000321.3(RB1):c.2325+1G>C | RB1 | Pathogenic/Likely pathogenic | 13 | 49039248 | 49039248 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA388167738 |
single nucleotide variant | NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) | RB1 | Pathogenic/Likely pathogenic | 13 | 49033957 | 49033957 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA388166951 |
single nucleotide variant | NM_000321.3(RB1):c.1421+1G>C | RB1 | Pathogenic/Likely pathogenic | 13 | 48954221 | 48954221 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA388162744 |
single nucleotide variant | NM_000321.3(RB1):c.857A>G (p.Asp286Gly) | RB1 | Pathogenic/Likely pathogenic | 13 | 48937089 | 48937089 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA388159708 |
Duplication | NM_000321.3(RB1):c.607+2dup | RB1 | Pathogenic/Likely pathogenic | 13 | 48923160 | 48923161 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369532 |
single nucleotide variant | NM_000321.3(RB1):c.277C>T (p.Gln93Ter) | RB1 | Pathogenic/Likely pathogenic | 13 | 48916747 | 48916747 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA388252335 |
Duplication | NM_000321.3(RB1):c.54_76dup (p.Pro26fs) | RB1 | Pathogenic/Likely pathogenic | 13 | 48878093 | 48878094 | T | TGCCGCCGCGGAACCCCCGGCACC | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369601 |