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.372G>A (p.Trp124Ter) | PMP22 | Pathogenic | 17 | 15134345 | 15134345 | C | T | criteria provided, single submitter | - |
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 | - |
Deletion | NM_000304.4(PMP22):c.68del (p.Thr23fs) | PMP22 | Pathogenic | 17 | 15163977 | 15163977 | CG | C | criteria provided, single submitter | - |
Deletion | NM_000304.4(PMP22):c.433del (p.Leu145fs) | PMP22 | Pathogenic | 17 | 15134284 | 15134284 | AG | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NC_000017.10:g.(?_14139889)_(15406546_?)dup | PMP22 | Pathogenic | 17 | 14139889 | 15406546 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_15162411)_(15406546_?)dup | PMP22 | Pathogenic | 17 | 15162411 | 15406546 | na | na | criteria provided, single submitter | - |