| | | Duplication | not provided | |
| | | Copy number gain | Klinefelter syndrome | |
| | | 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 | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | SRPX2-related disorder | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SRPX2-related disorder | |
| | | Single nucleotide variant (splice donor variant) | not specified | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (synonymous variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Deletion | not provided | |
| | | Deletion | Developmental and epileptic encephalopathy, 9 | |
| | | Duplication | X-linked agammaglobulinemia with growth hormone deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (stop lost) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | 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) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Duplication | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | Xq21.32q23 deletion | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (synonymous variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Deletion (intron variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (synonymous variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (synonymous variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (synonymous variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (synonymous variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (splice donor variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Duplication (splice donor variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more | |
| | | Single nucleotide variant (missense variant) | Autism +1 more | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (synonymous variant) | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |