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 |
Deletion | NM_000304.4(PMP22):c.433del (p.Leu145fs) | PMP22 | Pathogenic | 17 | 15134284 | 15134284 | AG | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000304.4(PMP22):c.434del (p.Leu145fs) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15134283 | 15134283 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA279068 |
single nucleotide variant | NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) | PMP22 | Pathogenic | 17 | 15134270 | 15134270 | G | T | criteria provided, single submitter | ClinGen:CA10577555,UniProtKB:Q01453#VAR_029970 |
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.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.449G>A (p.Gly150Asp) | PMP22 | Pathogenic | 17 | 15134268 | 15134268 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584542,UniProtKB:Q01453#VAR_006379 |
Duplication | NC_000017.10:g.(?_15134228)_(15164050_?)dup | PMP22 | Pathogenic | 17 | 15134228 | 15164050 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_15134214)_(15162530_?)dup | PMP22 | Pathogenic | 17 | 15134214 | 15162530 | 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 | - |