| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | WDR37-related condition +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +8 more | |
| | | Single nucleotide variant (missense variant) | POLG-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SPG7-related condition +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 36 +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Syndromic X-linked intellectual disability Lubs type +8 more | |