| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +7 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R224H +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Mowat-Wilson syndrome +4 more | |
| | LOC129935026, TBR1 (T532fs) | Microsatellite (frameshift variant) | Severe global developmental delay +12 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability +1 more | |
| | | Single nucleotide variant (intron variant) | Cobblestone lissencephaly without muscular or ocular involvement +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Triphalangeal thumb +19 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Occipital pachygyria and polymicrogyria +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +8 more | |
| | | Duplication (frameshift variant) | Achilles tendon contracture +12 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Short-rib thoracic dysplasia 14 with polydactyly +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy 94 +2 more | GConflicting classifications of pathogenicity |
| | ZFHX3, ZFHX3-AS1 (Q1221H +1 more) | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +2 more) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Congenital cerebellar hypoplasia +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 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 (non-coding transcript variant +2 more) | Seizure +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |