single nucleotide variant | NM_000304.4(PMP22):c.36C>A (p.His12Gln) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15164009 | 15164009 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA119622,UniProtKB:Q01453#VAR_006359,OMIM:601097.0008 |
single nucleotide variant | NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) | PMP22 | Pathogenic | 17 | 15163998 | 15163998 | A | G | criteria provided, single submitter | ClinGen:CA340784,UniProtKB:Q01453#VAR_006360,OMIM:601097.0002 |
Deletion | NM_000304.4(PMP22):c.68del (p.Thr23fs) | PMP22 | Pathogenic | 17 | 15163977 | 15163977 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.78+1G>A | PMP22 | Pathogenic | 17 | 15163966 | 15163966 | C | T | criteria provided, single submitter | ClinGen:CA398271648 |
single nucleotide variant | NM_000304.4(PMP22):c.79-2A>G | PMP22 | Pathogenic | 17 | 15162512 | 15162512 | T | C | criteria provided, single submitter | - |
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 |
single nucleotide variant | NM_000304.4(PMP22):c.83G>A (p.Trp28Ter) | PMP22 | Pathogenic | 17 | 15162506 | 15162506 | C | T | criteria provided, single submitter | ClinGen:CA398271192 |
single nucleotide variant | NM_000304.4(PMP22):c.117G>A (p.Trp39Ter) | PMP22 | Pathogenic | 17 | 15162472 | 15162472 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10604162 |
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 |
Duplication | NC_000017.10:g.(?_15162411)_(15406546_?)dup | PMP22 | Pathogenic | 17 | 15162411 | 15406546 | na | na | criteria provided, single submitter | - |