Deletion | NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs) | USH2A | Likely pathogenic | 1 | 216243608 | 216243609 | CTT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) | USH2A | Pathogenic | 1 | 216420126 | 216420126 | G | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_206933.4(USH2A):c.6672dup (p.Gly2225fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216166494 | 216166495 | C | CA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.2994-2A>G | USH2A | Likely pathogenic | 1 | 216390894 | 216390894 | T | C | criteria provided, single submitter | - |
Deletion | NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs) | USH2A | Likely pathogenic | 1 | 216166450 | 216166459 | TGTCCTCGTCA | T | criteria provided, single submitter | - |
Duplication | NM_206933.4(USH2A):c.7130dup (p.Asn2377fs) | USH2A | Likely pathogenic | 1 | 216108127 | 216108128 | G | GT | criteria provided, single submitter | - |
Deletion | NM_206933.4(USH2A):c.7531del (p.Val2511fs) | USH2A | Likely pathogenic | 1 | 216073480 | 216073480 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) | USH2A | Pathogenic | 1 | 216371855 | 216371855 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) | USH2A | Pathogenic | 1 | 216371818 | 216371818 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216262419 | 216262419 | C | T | criteria provided, multiple submitters, no conflicts | - |