single nucleotide variant | NM_000166.6(GJB1):c.298C>T (p.His100Tyr) | GJB1 | Pathogenic | X | 70443855 | 70443855 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.286G>C (p.Ala96Pro) | GJB1 | Pathogenic | X | 70443843 | 70443843 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.281A>G (p.His94Arg) | GJB1 | Pathogenic | X | 70443838 | 70443838 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.280C>T (p.His94Tyr) | GJB1 | Likely pathogenic | X | 70443837 | 70443837 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.260C>T (p.Pro87Leu) | GJB1 | Pathogenic | X | 70443817 | 70443817 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.257C>T (p.Thr86Ile) | GJB1 | Likely pathogenic | X | 70443814 | 70443814 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) | GJB1 | Likely pathogenic | X | 70443798 | 70443798 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) | GJB1 | Pathogenic | X | 70443795 | 70443795 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.205T>C (p.Phe69Leu) | GJB1 | Pathogenic | X | 70443762 | 70443762 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) | GJB1 | Pathogenic | X | 70443752 | 70443752 | T | G | criteria provided, single submitter | - |