Deletion | NC_000013.11:g.(?_48307274)_(48349029_?)del | RB1 | Pathogenic | 13 | 48881410 | 48923165 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.264+1G>A | RB1 | Pathogenic | 13 | 48881543 | 48881543 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA388250701 |
Duplication | NC_000013.10:g.(?_48916729)_(48942746_?)dup | RB1 | Pathogenic | 13 | 48916729 | 48942746 | na | na | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_48342599)_(48345199_?)del | RB1 | Pathogenic | 13 | 48916735 | 48919335 | na | na | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.272_276del (p.Tyr91fs) | RB1 | Pathogenic | 13 | 48916740 | 48916744 | GTTATA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.277C>T (p.Gln93Ter) | RB1 | Pathogenic/Likely pathogenic | 13 | 48916747 | 48916747 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA388252335 |
Duplication | NM_000321.3(RB1):c.281dup (p.Lys95fs) | RB1 | Pathogenic | 13 | 48916747 | 48916748 | C | CA | criteria provided, single submitter | ClinGen:CA645369550 |
single nucleotide variant | NM_000321.3(RB1):c.283A>T (p.Lys95Ter) | RB1 | Pathogenic | 13 | 48916753 | 48916753 | A | T | criteria provided, single submitter | ClinGen:CA388252351 |
single nucleotide variant | NM_000321.3(RB1):c.297G>A (p.Trp99Ter) | RB1 | Pathogenic | 13 | 48916767 | 48916767 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA026447 |
Insertion | NM_000321.3(RB1):c.297_298insA (p.Gly100fs) | RB1 | Pathogenic | 13 | 48916767 | 48916768 | G | GA | criteria provided, single submitter | - |