Duplication | NM_000321.3(RB1):c.2172dup (p.Val725fs) | RB1 | Pathogenic | 13 | 49037930 | 49037931 | A | AT | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.2164A>T (p.Lys722Ter) | RB1 | Pathogenic | 13 | 49037924 | 49037924 | A | T | criteria provided, single submitter | ClinGen:CA026424 |
Indel | NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs) | RB1 | Pathogenic | 13 | 49037920 | 49037927 | ATTCAAAA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) | RB1 | Pathogenic/Likely pathogenic | 13 | 49037894 | 49037894 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA026423,UniProtKB:P06400#VAR_005587,OMIM:614041.0024 |
Duplication | NM_000321.3(RB1):c.2131dup (p.Ile711fs) | RB1 | Pathogenic | 13 | 49037890 | 49037891 | C | CA | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.2128_2132del (p.Gly710fs) | RB1 | Pathogenic | 13 | 49037886 | 49037890 | TATGGC | T | criteria provided, single submitter | ClinGen:CA645369527 |
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.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.2106+2T>A | RB1 | Pathogenic | 13 | 49033971 | 49033971 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.2105A>G (p.Gln702Arg) | RB1 | Pathogenic | 13 | 49033968 | 49033968 | A | G | criteria provided, single submitter | ClinGen:CA388166979 |