single nucleotide variant | NM_206933.4(USH2A):c.2167+5G>A | USH2A | Pathogenic/Likely pathogenic | 1 | 216424240 | 216424240 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.2168-1G>C | USH2A | Pathogenic | 1 | 216420569 | 216420569 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) | USH2A | Pathogenic | 1 | 216419939 | 216419939 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.4081+2T>C | USH2A | Likely pathogenic | 1 | 216371655 | 216371655 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.1972-1G>A | USH2A | Pathogenic/Likely pathogenic | 1 | 216424441 | 216424441 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.4082-2A>G | USH2A | Likely pathogenic | 1 | 216370066 | 216370066 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216369972 | 216369972 | C | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) | USH2A | Pathogenic/Likely pathogenic | 1 | 216420120 | 216420120 | CT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) | USH2A | Pathogenic/Likely pathogenic | 1 | 216258040 | 216258040 | C | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs) | USH2A | Likely pathogenic | 1 | 216251492 | 216251504 | AAACTGGTGAATTC | A | criteria provided, single submitter | - |