single nucleotide variant | NM_000530.8(MPZ):c.68-1G>A | MPZ | Pathogenic/Likely pathogenic | 1 | 161277215 | 161277215 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000166.6(GJB1):c.807_808del (p.Ala271fs) | GJB1 | Pathogenic/Likely pathogenic | X | 70444364 | 70444365 | CCG | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000166.6(GJB1):c.265C>G (p.Leu89Val) | GJB1 | Pathogenic/Likely pathogenic | X | 70443822 | 70443822 | C | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_181882.3(PRX):c.165_177dup (p.Gln60fs) | PRX | Pathogenic/Likely pathogenic | 19 | 40909619 | 40909620 | G | GCAGGCTGAGGCTC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15134297 | 15134297 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs) | SPG11 | Pathogenic/Likely pathogenic | 15 | 44941184 | 44941188 | CAAACA | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp) | SPG11 | Pathogenic/Likely pathogenic | 15 | 44890912 | 44890912 | A | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_025137.4(SPG11):c.4075del (p.Ile1359fs) | SPG11 | Pathogenic/Likely pathogenic | 15 | 44889068 | 44889068 | AT | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs) | DHTKD1 | Pathogenic/Likely pathogenic | 10 | 12160801 | 12160802 | CAA | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_003172.4(SURF1):c.281dup (p.Leu94fs) | SURF1 | Pathogenic/Likely pathogenic | 9 | 136221555 | 136221556 | C | CA | criteria provided, multiple submitters, no conflicts | - |