single nucleotide variant | NM_000304.4(PMP22):c.431C>G (p.Pro144Arg) | PMP22 | Likely pathogenic | 17 | 15134286 | 15134286 | G | C | criteria provided, single submitter | ClinGen:CA398739549 |
single nucleotide variant | NM_000304.4(PMP22):c.449G>T (p.Gly150Val) | PMP22 | Pathogenic | 17 | 15134268 | 15134268 | C | A | criteria provided, single submitter | ClinGen:CA398739500 |
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.117G>A (p.Trp39Ter) | PMP22 | Pathogenic | 17 | 15162472 | 15162472 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10604162 |
copy number gain | GRCh37/hg19 17p12(chr17:14413312-15169915)x3 | PMP22 | Pathogenic | 17 | 14413312 | 15169915 | na | na | criteria provided, single submitter | - |
copy number loss | GRCh37/hg19 17p12(chr17:15133960-15169915)x1 | PMP22 | Pathogenic | 17 | 15133960 | 15169915 | na | na | criteria provided, single submitter | - |
copy number gain | GRCh37/hg19 17p12(chr17:15133960-15169915)x3 | PMP22 | Pathogenic | 17 | 15133960 | 15169915 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) | PMP22 | Pathogenic | 17 | 15134268 | 15134268 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584542,UniProtKB:Q01453#VAR_006379 |
Duplication | NM_000304.3(PMP22):c.-34-?_*1140dup1657 | PMP22 | Pathogenic | 17 | 15133094 | 15164078 | na | na | criteria provided, single submitter | - |
Deletion | NM_000304.3(PMP22):c.-34-?_*1140del | PMP22 | Pathogenic | 17 | 15133094 | 15164078 | na | na | criteria provided, single submitter | - |