single nucleotide variant | NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15142799 | 15142799 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA334032 |
Deletion | NM_000304.4(PMP22):c.434del (p.Leu145fs) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15134283 | 15134283 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA279068 |
Deletion | NM_000304.4(PMP22):c.138del (p.Ser47fs) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15162451 | 15162451 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA350118 |
single nucleotide variant | NM_000304.4(PMP22):c.448G>C (p.Gly150Arg) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15134269 | 15134269 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16607534 |
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.215C>G (p.Ser72Trp) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15142892 | 15142892 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15134297 | 15134297 | C | T | criteria provided, multiple submitters, no conflicts | - |