Deletion | NM_000304.4(PMP22):c.227del (p.Ser76fs) | PMP22 | Pathogenic | 17 | 15142880 | 15142880 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) | PMP22 | Pathogenic | 17 | 15142851 | 15142851 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) | PMP22 | Pathogenic | 17 | 15142809 | 15142809 | C | T | criteria provided, single submitter | - |
Deletion | NM_000304.4(PMP22):c.318del (p.Gly107fs) | PMP22 | Pathogenic | 17 | 15142789 | 15142789 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.320G>T (p.Gly107Val) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15134397 | 15134397 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) | PMP22 | Pathogenic | 17 | 15134345 | 15134345 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) | PMP22 | Likely pathogenic | 17 | 15134299 | 15134299 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000304.4(PMP22):c.419G>A (p.Trp140Ter) | PMP22 | Pathogenic | 17 | 15134298 | 15134298 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) | PMP22 | Pathogenic | 17 | 15142800 | 15142800 | G | A | criteria provided, single submitter | - |
Duplication | Single allele | PMP22 | Pathogenic | 17 | 14087933 | 15500645 | na | na | criteria provided, single submitter | - |