single nucleotide variant | NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) | USH2A | Pathogenic | 1 | 216462717 | 216462717 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA1396371 |
Deletion | NM_206933.2(USH2A):c.1644+10004_1972-12164del | USH2A | Likely pathogenic | 1 | 216436604 | 216485221 | na | na | 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 | - |
Duplication | NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) | USH2A | Pathogenic | 1 | 216424419 | 216424420 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA273575 |
single nucleotide variant | NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) | USH2A | Pathogenic | 1 | 216424389 | 216424389 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter) | USH2A | Pathogenic | 1 | 216424384 | 216424384 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) | USH2A | Likely pathogenic | 1 | 216424331 | 216424331 | C | T | reviewed by expert panel | ClinGen:CA1396311 |
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.2168-2A>G | USH2A | Pathogenic/Likely pathogenic | 1 | 216420570 | 216420570 | T | C | 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 | - |