| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC123620117, LOC123620118 +324 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | TAF8-related disorder +3 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication | PRPH2-related disorder | |
| | | Deletion | Peroxisome biogenesis disorder | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |