Deletion | NM_206933.4(USH2A):c.1558del (p.Cys520fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216495311 | 216495311 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581647 |
single nucleotide variant | NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) | USH2A | Pathogenic | 1 | 216495263 | 216495263 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA262095,UniProtKB:O75445#VAR_025769 |
Deletion | NM_206933.4(USH2A):c.1679del (p.Pro560fs) | USH2A | Pathogenic | 1 | 216465678 | 216465678 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA1396426 |
single nucleotide variant | NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) | USH2A | Pathogenic/Likely pathogenic | 1 | 216465633 | 216465633 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_206933.4(USH2A):c.1803del (p.Gly602fs) | USH2A | Pathogenic | 1 | 216465554 | 216465554 | CT | C | criteria provided, single submitter | ClinGen:CA658795193 |
Deletion | NM_206933.2(USH2A):c.(?_1645)_(1840_?)del | USH2A | Pathogenic | 1 | 216465517 | 216465712 | 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 | - |
Deletion | NC_000001.11:g.(?_216292165)_(216327664_?)del | USH2A | Pathogenic | 1 | 216465507 | 216501006 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.1841-2A>G | USH2A | Pathogenic | 1 | 216462754 | 216462754 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA262097 |
single nucleotide variant | NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) | USH2A | Likely pathogenic | 1 | 216462734 | 216462734 | C | A | reviewed by expert panel | - |