single nucleotide variant | NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) | PMP22 | Pathogenic | 17 | 15134270 | 15134270 | G | T | criteria provided, single submitter | ClinGen:CA10577555,UniProtKB:Q01453#VAR_029970 |
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 |
Indel | NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs) | PMP22 | Pathogenic | 17 | 15142826 | 15142827 | CC | A | criteria provided, single submitter | ClinGen:CA350485 |
single nucleotide variant | NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) | PMP22 | Likely pathogenic | 17 | 15142872 | 15142872 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA279110 |
single nucleotide variant | NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) | PMP22 | Pathogenic | 17 | 15134390 | 15134390 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA279101 |
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 |
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.281del (p.Gly94fs) | PMP22 | Pathogenic | 17 | 15142826 | 15142826 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA259755,OMIM:601097.0021 |
single nucleotide variant | NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) | PMP22 | Likely pathogenic | 17 | 15142908 | 15142908 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA254388,UniProtKB:Q01453#VAR_029965,OMIM:601097.0017 |
single nucleotide variant | NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) | PMP22 | Likely pathogenic | 17 | 15162507 | 15162507 | A | G | criteria provided, single submitter | ClinGen:CA342724,UniProtKB:Q01453#VAR_029963,OMIM:601097.0014 |