| | | Insertion (frameshift variant) | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (inframe_insertion) | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | |
| | | Duplication (frameshift variant) | not specified | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Deletion (frameshift variant) | See cases | |
| | | Deletion | See cases | |
| | | Deletion | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Microsatellite (frameshift variant) | See cases | |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Xq21.32q23 deletion | |
| | CXorf49B, CXorf51A +821 more | Copy number loss | not provided | |
| | | Duplication | Pelizaeus-Merzbacher disease +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | Hereditary spastic paraplegia 2 | |
| | | Deletion | Global developmental delay | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Early Onset Neurological Disease Trait | |
| | | Copy number loss | Early Onset Neurological Disease Trait | |
| | | Copy number loss | Early Onset Neurological Disease Trait | |
| | | Copy number loss | Early Onset Neurological Disease Trait | |
| | | Copy number loss | Early Onset Neurological Disease Trait | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | Syndromic X-linked intellectual disability Lubs type | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Indel | Heterotaxy, visceral, 1, X-linked | |
| | ARMCX3, CT47A11 +2631 more | Duplication | Autism +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ZCCHC12, ZCCHC13 +698 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARMCX5-GPRASP2, ARMCX6 +506 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | MAGEB17, MAGEB18 +822 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GAGE12F, GAGE12G +822 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |