| | | Single nucleotide variant (missense variant) | PTPN23-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +1 more | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +2 more | |
| | | Single nucleotide variant (synonymous variant) | Optic atrophy 9 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Optic atrophy 9 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brain atrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Brain atrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Attention deficit hyperactivity disorder +4 more | |
| | | Single nucleotide variant (nonsense) | AP4M1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | ST7, ST7-AS2 (Y163* +3 more) | Single nucleotide variant (nonsense +1 more) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 +2 more | |