Duplication | NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) | USH2A | Pathogenic | 1 | 216595439 | 216595440 | G | GGTAC | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_206933.4(USH2A):c.302del (p.Phe101fs) | USH2A | Likely pathogenic | 1 | 216595377 | 216595377 | GA | G | criteria provided, single submitter | - |
Deletion | NM_206933.4(USH2A):c.387del (p.Phe129fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216595292 | 216595292 | CA | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.449T>A (p.Leu150Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216595230 | 216595230 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.486-14G>A | USH2A | Pathogenic/Likely pathogenic | 1 | 216592035 | 216592035 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA1396771 |
Deletion | NM_206933.4(USH2A):c.486-1_625del | USH2A | Likely pathogenic | 1 | 216591882 | 216592022 | TTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.490G>T (p.Val164Phe) | USH2A | Likely pathogenic | 1 | 216592017 | 216592017 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA270157 |
Deletion | NM_206933.4(USH2A):c.545_546del (p.Lys182fs) | USH2A | Pathogenic | 1 | 216591961 | 216591962 | CTT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.632G>A (p.Trp211Ter) | USH2A | Pathogenic | 1 | 216591875 | 216591875 | C | T | criteria provided, single submitter | ClinGen:CA273632 |
single nucleotide variant | NM_206933.4(USH2A):c.651+1G>A | USH2A | Likely pathogenic | 1 | 216591855 | 216591855 | C | T | criteria provided, multiple submitters, no conflicts | - |