single nucleotide variant | NM_206933.4(USH2A):c.1036A>C (p.Asn346His) | USH2A | Pathogenic | 1 | 216498754 | 216498754 | T | G | reviewed by expert panel | ClinGen:CA262054,UniProtKB:O75445#VAR_025766 |
single nucleotide variant | NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) | USH2A | Pathogenic/Likely pathogenic | 1 | 216498735 | 216498735 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA1396612 |
Deletion | NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216498678 | 216498679 | AAT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA529004316 |
single nucleotide variant | NM_206933.4(USH2A):c.1143+1G>A | USH2A | Pathogenic | 1 | 216498646 | 216498646 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA262069 |
Deletion | NM_206933.4(USH2A):c.1214del (p.Asn405fs) | USH2A | Pathogenic | 1 | 216497624 | 216497624 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274501 |
single nucleotide variant | NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) | USH2A | Pathogenic | 1 | 216497611 | 216497611 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16603533 |
single nucleotide variant | NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys) | USH2A | Likely pathogenic | 1 | 216497611 | 216497611 | C | G | criteria provided, single submitter | ClinGen:CA262075 |
single nucleotide variant | NM_206933.4(USH2A):c.1228G>T (p.Glu410Ter) | USH2A | Pathogenic | 1 | 216497610 | 216497610 | C | A | criteria provided, single submitter | - |
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.1391G>A (p.Arg464His) | USH2A | Pathogenic/Likely pathogenic | 1 | 216496975 | 216496975 | C | T | criteria provided, multiple submitters, no conflicts | - |