copy number gain | GRCh37/hg19 17p12(chr17:14413312-15169915)x3 | PMP22 | Pathogenic | 17 | 14413312 | 15169915 | na | na | criteria provided, single submitter | - |
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 |
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 |
Duplication | NC_000017.10:g.(?_15134214)_(15162530_?)dup | PMP22 | Pathogenic | 17 | 15134214 | 15162530 | na | na | 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 |
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.83G>A (p.Trp28Ter) | PMP22 | Pathogenic | 17 | 15162506 | 15162506 | C | T | criteria provided, single submitter | ClinGen:CA398271192 |
Duplication | NC_000017.10:g.(?_15162411)_(15406546_?)dup | PMP22 | Pathogenic | 17 | 15162411 | 15406546 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_14139889)_(15406546_?)dup | PMP22 | Pathogenic | 17 | 14139889 | 15406546 | na | na | criteria provided, single submitter | - |
Deletion | NM_000304.4(PMP22):c.433del (p.Leu145fs) | PMP22 | Pathogenic | 17 | 15134284 | 15134284 | AG | A | criteria provided, multiple submitters, no conflicts | - |