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 |
Deletion | NC_000017.11:g.(?_15239451)_(15239631_?)del | PMP22 | Pathogenic | 17 | 15142768 | 15142948 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.179-2A>G | PMP22 | Pathogenic | 17 | 15142930 | 15142930 | T | C | criteria provided, single submitter | - |
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.199G>C (p.Ala67Pro) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15142908 | 15142908 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA340786,UniProtKB:Q01453#VAR_009661,OMIM:601097.0010 |
single nucleotide variant | NM_000304.4(PMP22):c.206T>A (p.Met69Lys) | PMP22 | Pathogenic | 17 | 15142901 | 15142901 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA119618,UniProtKB:Q01453#VAR_006362,OMIM:601097.0006 |
single nucleotide variant | NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) | PMP22 | Pathogenic | 17 | 15142893 | 15142893 | A | G | criteria provided, single submitter | - |
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.215C>T (p.Ser72Leu) | PMP22 | Pathogenic | 17 | 15142892 | 15142892 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA119620,UniProtKB:Q01453#VAR_006363,OMIM:601097.0007 |