single nucleotide variant | NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) | USH2A | Pathogenic/Likely pathogenic | 1 | 216500979 | 216500979 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA143613,UniProtKB:O75445#VAR_054557 |
single nucleotide variant | NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) | USH2A | Pathogenic | 1 | 216500961 | 216500961 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA1396686 |
single nucleotide variant | NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) | USH2A | Pathogenic | 1 | 216500961 | 216500961 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA262118 |
single nucleotide variant | NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216500953 | 216500953 | G | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_206933.4(USH2A):c.895del (p.Gln299fs) | USH2A | Pathogenic | 1 | 216498895 | 216498895 | TG | T | criteria provided, single submitter | ClinGen:CA529004272 |
single nucleotide variant | NM_206933.4(USH2A):c.908G>A (p.Arg303His) | USH2A | Pathogenic/Likely pathogenic | 1 | 216498882 | 216498882 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA1396646 |
Duplication | NM_206933.4(USH2A):c.920_923dup (p.His308fs) | USH2A | Pathogenic | 1 | 216498866 | 216498867 | G | GTGGC | criteria provided, multiple submitters, no conflicts | ClinGen:CA262127 |
single nucleotide variant | NM_206933.4(USH2A):c.949C>A (p.Arg317=) | USH2A | Pathogenic | 1 | 216498841 | 216498841 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252237,OMIM:608400.0008 |
single nucleotide variant | NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) | USH2A | Pathogenic | 1 | 216498834 | 216498834 | C | T | reviewed by expert panel | ClinGen:CA252231,UniProtKB:O75445#VAR_025764,OMIM:608400.0005 |
single nucleotide variant | NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) | USH2A | Pathogenic/Likely pathogenic | 1 | 216498790 | 216498790 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA1396625,UniProtKB:O75445#VAR_025765 |