single nucleotide variant | NM_000304.4(PMP22):c.390C>G (p.Tyr130Ter) | PMP22 | Likely pathogenic | 17 | 15134327 | 15134327 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA398739656 |
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.327C>A (p.Cys109Ter) | PMP22 | Pathogenic | 17 | 15134390 | 15134390 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA279101 |
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 | - |
Deletion | NC_000017.11:g.(?_15239451)_(15239631_?)del | PMP22 | Pathogenic | 17 | 15142768 | 15142948 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_15239461)_(15260737_?)del | PMP22 | Pathogenic | 17 | 15142778 | 15164054 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_15142778)_(15164054_?)dup | PMP22 | Pathogenic | 17 | 15142778 | 15164054 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.319+1G>A | PMP22 | Pathogenic | 17 | 15142787 | 15142787 | 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.308A>G (p.Gln103Arg) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15142799 | 15142799 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA334032 |