Deletion | NM_206933.4(USH2A):c.10318del (p.Ile3440fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 215960081 | 215960081 | AT | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) | USH2A | Pathogenic/Likely pathogenic | 1 | 216251674 | 216251674 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46657847 | 46657847 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46661506 | 46661506 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) | RPE65 | Pathogenic/Likely pathogenic | 1 | 68897192 | 68897192 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) | RDH12 | Pathogenic/Likely pathogenic | 14 | 68200497 | 68200497 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_017739.4(POMGNT1):c.652+1G>T | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46660515 | 46660515 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001142800.2(EYS):c.7055+1G>A | EYS | Pathogenic/Likely pathogenic | 6 | 64694275 | 64694275 | C | T | criteria provided, multiple submitters, no conflicts | - |