| | AP4B1, AP4B1-AS1 (T219fs +2 more) | Deletion (frameshift variant) | Hereditary spastic paraplegia 47 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy 106 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Abnormality of the nervous system +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Intellectual disability | |
| | | Duplication (frameshift variant) | not provided +5 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Seizure +7 more | GPathogenic/Likely pathogenic |