Deletion | NC_000013.11:g.(?_48303903)_(48480081_?)del | RB1 | Pathogenic | 13 | 48878039 | 49054217 | 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.(?_48476691)_(48477414_?)del | RB1 | Pathogenic | 13 | 49050827 | 49051550 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.2663+2T>C | RB1 | Pathogenic | 13 | 49050981 | 49050981 | T | C | criteria provided, single submitter | ClinGen:CA026445 |
single nucleotide variant | NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) | RB1 | Likely pathogenic | 13 | 49050979 | 49050979 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA388157668 |
single nucleotide variant | NM_000321.3(RB1):c.2548C>T (p.Gln850Ter) | RB1 | Pathogenic | 13 | 49050864 | 49050864 | C | T | criteria provided, single submitter | ClinGen:CA10604891 |
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.2520+5G>T | RB1 | Pathogenic | 13 | 49047531 | 49047531 | G | T | criteria provided, single submitter | - |
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 |
Deletion | NM_000321.3(RB1):c.2520+3_2520+6del | RB1 | Pathogenic | 13 | 49047527 | 49047530 | GGTGA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369528 |