| | | Duplication (frameshift variant) | Myoclonus +4 more | |
| | | Single nucleotide variant (missense variant) | Bipolar affective disorder +3 more | |
| | SYNGAP1, SYNGAP1-AS1 (P1053fs +1 more) | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | |
| | | Microsatellite (frameshift variant) | Leigh syndrome due to mitochondrial complex IV deficiency +11 more | |
| | | Single nucleotide variant (intron variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Impaired vibration sensation in the lower limbs +6 more | |
| | | Single nucleotide variant (missense variant) | Male infertility due to gonadal dysgenesis or sperm disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +6 more | |
| | | Single nucleotide variant (missense variant) | Dysarthria +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 39 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia +6 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mild global developmental delay +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | ADORA2A, C22orf15
+25 more | Copy number gain | Cerebellar ataxia | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Short stature +12 more | |