| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | Polymicrogyria | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Deletion | Duchenne muscular dystrophy | |
| | | Deletion | Duchenne muscular dystrophy | |
| | | Duplication | Congenital adrenal hypoplasia, X-linked +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Complex | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CXorf49B, CXorf51A +821 more | Copy number loss | not provided | |
| | | Deletion | Duchenne muscular dystrophy | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Deletion | Ornithine carbamoyltransferase deficiency | |
| | | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Chromosome Xp21 deletion syndrome | |
| | | Copy number loss | See cases | |
| | SUPT20HL2, SYAP1 +177 more | Deletion | Neurodevelopmental disorder | |
| | | 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 loss | not provided | |
| | | Copy number loss | not provided | |
| | ARMCX3, CT47A11 +2631 more | Duplication | Autism +1 more | |
| | LOC130068087, LOC130068088 +33 more | Deletion | Congenital adrenal hypoplasia, X-linked | |
| | LOC113875019, LOC116309149 +14 more | Deletion | Congenital adrenal hypoplasia, X-linked | |
| | | Deletion | Congenital adrenal hypoplasia, X-linked | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | FAM133A, FAM156A +819 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CT47A11, CT47A12 +818 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GAGE12F, GAGE12G +822 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 loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | 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 | |
| | MAGEE2, MTRNR2L10 +822 more | Copy number gain | See cases | |
| | LOC116309160, LOC116309161 +2631 more | Copy number gain | See cases | |
| | LOC130068156, LOC130068157 +2632 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068116, LOC130068117 +2633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |