| | | Duplication | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (non-coding transcript variant) | XIST-related disorder | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | TSIX-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | TSIX-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | TSIX-related disorder | |
| | | Deletion (non-coding transcript variant) | TSIX-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | TSIX-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | TSIX-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Deletion | XIST-related disorder | |
| | | Deletion (non-coding transcript variant) | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | XIST-related disorder | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | TSIX-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant) | TSIX-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Deletion | XIST-related disorder | |
| | | Single nucleotide variant | XIST-related disorder | |
| | | Deletion | XIST-related disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Xq13q21 duplication | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ARMCX4, CXorf51B +513 more | Copy number gain | See cases | |
| | | Inversion | Elevated circulating creatine kinase concentration | |
| | ARHGAP36, ARHGAP4 +818 more | 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 | |
| | | Indel | Heterotaxy, visceral, 1, X-linked | |
| | | Duplication | Autism +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | TMEM255A, TMEM31 +819 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |