| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 67 +6 more | GPathogenic/Likely pathogenic |
| | LOC130061496, BPTF (D157N) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more | |