single nucleotide variant | NM_000321.3(RB1):c.2107-2A>G | RB1 | Pathogenic | 13 | 49037865 | 49037865 | A | G | criteria provided, single submitter | OMIM:614041.0009 |
single nucleotide variant | NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) | RB1 | Pathogenic | 13 | 49039164 | 49039164 | G | T | criteria provided, single submitter | ClinGen:CA026433,OMIM:614041.0010 |
single nucleotide variant | NM_000321.2(RB1):c.-198G>A | RB1 | Pathogenic | 13 | 48877851 | 48877851 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA026385,OMIM:614041.0018 |
single nucleotide variant | NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) | RB1 | Pathogenic | 13 | 49033844 | 49033844 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA026417,UniProtKB:P06400#VAR_005582,OMIM:614041.0019 |
single nucleotide variant | NM_000321.3(RB1):c.2211G>A (p.Glu737=) | RB1 | Pathogenic | 13 | 49037971 | 49037971 | G | A | criteria provided, single submitter | ClinGen:CA026429,OMIM:614041.0021 |
single nucleotide variant | NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) | RB1 | Pathogenic | 13 | 48955550 | 48955550 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA026386,OMIM:614041.0022 |
single nucleotide variant | NM_000321.3(RB1):c.607+1G>T | RB1 | Pathogenic | 13 | 48923160 | 48923160 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA026463,OMIM:614041.0025 |
single nucleotide variant | NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) | RB1 | Pathogenic | 13 | 49030343 | 49030343 | T | A | criteria provided, single submitter | ClinGen:CA026402,OMIM:614041.0026 |
single nucleotide variant | NM_000321.3(RB1):c.2490-1398A>G | RB1 | Pathogenic | 13 | 49046098 | 49046098 | A | G | criteria provided, single submitter | ClinGen:CA026441,OMIM:614041.0028 |
single nucleotide variant | NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) | RB1 | Pathogenic | 13 | 48954198 | 48954198 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA026376 |