| | | Deletion (frameshift variant) | Hearing impairment +10 more | |
| | | Microsatellite (frameshift variant) | Hearing impairment +7 more | |
| | | Single nucleotide variant (missense variant) | Tremor +6 more | |
| | | Single nucleotide variant (missense variant) | Tremor | |
| | | Deletion | Dysmetria +9 more | |
| | | Single nucleotide variant (missense variant) | Spastic ataxia +9 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral arteriovenous malformation +3 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 6 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arteriovenous malformation +10 more | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Intellectual disability +7 more | |
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | not provided +13 more | GConflicting classifications of pathogenicity; risk factor |
| | | Deletion | Tremor +3 more | |
| | LOC101927919, LOC129389624
+3 more | Deletion | Intellectual disability +2 more | |
| | LOC101927919, LOC126859772
+5 more | Deletion | Intellectual disability +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 5A +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration with brain iron accumulation 4 +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (E365K +5 more) | Single nucleotide variant (missense variant) | Gaucher disease type I | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +26 more | GPathogenic/Likely pathogenic |