| | | Duplication (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Duplication (inframe_insertion) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | 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 | |
| | | Deletion (frameshift 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) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Duplication (frameshift 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 (intron variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | LOC110121445, LOC111365175
+36 more | Deletion | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Deletion (frameshift 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 (nonsense) | 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) | not provided +1 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 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | BPTF, LOC130061496 (D170N) | 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | BPTF, LOC130061496 (D185del) | Microsatellite (inframe_deletion) | not provided +1 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more | |
| | | Microsatellite (inframe_deletion) | 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) | 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 | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | BPTF, LOC130061496 (D181E) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | 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 | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Microsatellite (frameshift 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) | 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 +1 more | |
| | | 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 | |
| | BPTF, LOC130061496 (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 | |
| | | 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 | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Microsatellite (inframe_insertion) | 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 | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +5 more | GPathogenic/Likely pathogenic |
| | | 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 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Secondary microcephaly +3 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Secondary microcephaly +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +2 more | GConflicting classifications of pathogenicity |