| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126860975, ZMIZ1 (N804Y) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126860975, ZMIZ1 (N773D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | LOC126860975, ZMIZ1 (M799T) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126860975, ZMIZ1 (L803V) | Single nucleotide variant (missense variant) | ZMIZ1-related disorder | |
| | | Duplication (intron variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Deletion (inframe_deletion) | Developmental disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC126860975, ZMIZ1 (A788S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126860975, ZMIZ1 (S768L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126860975, ZMIZ1 (A788T) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | LOC126860975, ZMIZ1 (Y769*) | Single nucleotide variant (nonsense) | not provided | |
| | | Copy number loss | not provided | |