Deletion | NM_206933.4(USH2A):c.2299del (p.Glu767fs) | USH2A | Pathogenic | 1 | 216420437 | 216420437 | TC | T | criteria provided, multiple submitters, no conflicts | OMIM:608400.0001,ClinGen:CA252226,ClinVar:560516 |
Deletion | NM_206933.4(USH2A):c.2898del (p.Thr967fs) | USH2A | Pathogenic | 1 | 216405390 | 216405390 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252227,OMIM:608400.0002 |
single nucleotide variant | NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) | USH2A | Pathogenic | 1 | 216498834 | 216498834 | C | T | reviewed by expert panel | ClinGen:CA252231,UniProtKB:O75445#VAR_025764,OMIM:608400.0005 |
single nucleotide variant | NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) | USH2A | Pathogenic | 1 | 216420460 | 216420460 | C | A | reviewed by expert panel | ClinGen:CA252233,UniProtKB:O75445#VAR_025775,OMIM:608400.0006 |
single nucleotide variant | NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) | USH2A | Pathogenic | 1 | 215901574 | 215901574 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252235,OMIM:608400.0007 |
single nucleotide variant | NM_206933.4(USH2A):c.949C>A (p.Arg317=) | USH2A | Pathogenic | 1 | 216498841 | 216498841 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252237,OMIM:608400.0008 |
single nucleotide variant | NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) | USH2A | Pathogenic | 1 | 216497582 | 216497582 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA252239,UniProtKB:O75445#VAR_025767,OMIM:608400.0009 |
single nucleotide variant | NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) | USH2A | Pathogenic | 1 | 216420527 | 216420527 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA252242,OMIM:608400.0011 |
single nucleotide variant | NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) | USH2A | Likely pathogenic | 1 | 215844427 | 215844427 | T | C | criteria provided, single submitter | ClinGen:CA252244,UniProtKB:O75445#VAR_038369,OMIM:608400.0012 |
single nucleotide variant | NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser) | PRPF3 | Pathogenic | 1 | 150316688 | 150316688 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252737,UniProtKB:O43395#VAR_046735,OMIM:607301.0002 |