single nucleotide variant | NM_000321.3(RB1):c.2489+2T>C | RB1 | Pathogenic | 13 | 49039506 | 49039506 | T | C | criteria provided, single submitter | ClinGen:CA388168096 |
single nucleotide variant | NM_000321.3(RB1):c.2489+1G>A | RB1 | Pathogenic | 13 | 49039505 | 49039505 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA035748 |
single nucleotide variant | NM_000321.3(RB1):c.2489+1G>C | RB1 | Pathogenic | 13 | 49039505 | 49039505 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10605763 |
Duplication | NM_000321.3(RB1):c.2473dup (p.Met825fs) | RB1 | Pathogenic | 13 | 49039483 | 49039484 | C | CA | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.2465del (p.Pro822fs) | RB1 | Pathogenic | 13 | 49039479 | 49039479 | AC | A | criteria provided, single submitter | ClinGen:CA483740393 |
Indel | NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs) | RB1 | Pathogenic | 13 | 49039465 | 49039468 | AAGG | TTT | criteria provided, single submitter | ClinGen:CA658798153 |
single nucleotide variant | NM_000321.3(RB1):c.2439T>G (p.Tyr813Ter) | RB1 | Pathogenic | 13 | 49039454 | 49039454 | T | G | criteria provided, single submitter | ClinGen:CA388167986 |
single nucleotide variant | NM_000321.3(RB1):c.2439T>A (p.Tyr813Ter) | RB1 | Pathogenic | 13 | 49039454 | 49039454 | T | A | criteria provided, single submitter | ClinGen:CA388167985 |
Deletion | NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs) | RB1 | Pathogenic | 13 | 49039426 | 49039433 | ATCTATATT | A | criteria provided, single submitter | ClinGen:CA645369596 |
Deletion | NM_000321.3(RB1):c.2405_2414del (p.Gly802fs) | RB1 | Pathogenic | 13 | 49039420 | 49039429 | GGGAACATCTA | G | criteria provided, single submitter | - |