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.2520+1G>A | RB1 | Pathogenic | 13 | 49047527 | 49047527 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA026443 |
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 |
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 |
single nucleotide variant | NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) | RB1 | Pathogenic | 13 | 49027168 | 49027168 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA026398 |
single nucleotide variant | NM_000321.3(RB1):c.1723C>T (p.Gln575Ter) | RB1 | Pathogenic | 13 | 49027156 | 49027156 | C | T | criteria provided, single submitter | ClinGen:CA026397 |
single nucleotide variant | NM_000321.3(RB1):c.1960G>A (p.Val654Met) | RB1 | Pathogenic | 13 | 49030485 | 49030485 | G | A | criteria provided, single submitter | ClinGen:CA026413 |
Indel | NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs) | RB1 | Pathogenic | 13 | 49033930 | 49033942 | GAATGAGTATGAA | CAC | criteria provided, single submitter | ClinGen:CA026419 |
Duplication | NM_000321.3(RB1):c.1585dup (p.Tyr529fs) | RB1 | Pathogenic | 13 | 48955464 | 48955465 | A | AT | criteria provided, single submitter | ClinGen:CA026382 |
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 |