Deletion | NC_000001.10:g.216144119_216591855del447737 | USH2A | Pathogenic | 1 | 216144119 | 216591855 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_216292165)_(216327664_?)del | USH2A | Pathogenic | 1 | 216465507 | 216501006 | na | na | criteria provided, single submitter | - |
Deletion | NM_206933.2(USH2A):c.(?_785)_(1840_?)del | USH2A | Pathogenic | 1 | 216465517 | 216500996 | na | na | criteria provided, single submitter | - |
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 |