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 |
Deletion | NC_000013.11:g.(?_48303903)_(48480081_?)del | RB1 | Pathogenic | 13 | 48878039 | 49054217 | na | na | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_48303903)_(48307416_?)del | RB1 | Pathogenic | 13 | 48878039 | 48881552 | na | na | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_48303907)_(48480077_?)del | RB1 | Pathogenic | 13 | 48878043 | 49054213 | na | na | criteria provided, single submitter | - |
Duplication | NM_000321.3(RB1):c.9_42dup (p.Ala15fs) | RB1 | Pathogenic | 13 | 48878050 | 48878051 | T | TGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACC | criteria provided, single submitter | ClinGen:CA645369599 |
Duplication | NM_000321.3(RB1):c.19dup (p.Arg7fs) | RB1 | Pathogenic | 13 | 48878061 | 48878062 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA609859297 |
Indel | NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) | RB1 | Pathogenic | 13 | 48878067 | 48878069 | CGA | GG | criteria provided, single submitter | ClinGen:CA645369600 |
Deletion | NM_000321.3(RB1):c.45_76del (p.Ala17fs) | RB1 | Pathogenic | 13 | 48878081 | 48878112 | CCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG | C | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.36del (p.Ala13fs) | RB1 | Pathogenic | 13 | 48878083 | 48878083 | AC | A | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.37_65del (p.Ala13fs) | RB1 | Pathogenic | 13 | 48878084 | 48878112 | CCGCCGCCGCTGCCGCCGCGGAACCCCCGG | C | criteria provided, single submitter | ClinGen:CA16614430 |