| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | Intellectual disability, X-linked 102 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Deletion | Syndromic X-linked intellectual disability Hedera type | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | CXorf49B, CXorf51A +821 more | Copy number loss | not provided | |
| | | Copy number loss | Neurodevelopmental delay +1 more | |
| | | Copy number loss | Motor delay +2 more | |
| | | Copy number loss | Global developmental delay +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Deletion | Intellectual disability, CASK-related, X-linked | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Microcephaly | |
| | | Inversion | Elevated circulating creatine kinase concentration | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | 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 loss | not provided | |
| | | Copy number loss | not provided | |
| | | Indel | Heterotaxy, visceral, 1, X-linked | |
| | | Duplication | Syndromic X-linked intellectual disability Hedera type +1 more | |
| | ARMCX3, CT47A11 +2631 more | Duplication | Autism +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 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 | |
| | | 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 loss | See cases | |
| | MAGEB17, MAGEB18 +822 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Malignant tumor of prostate | |
| | | Copy number gain | See cases | |
| | LOC119407398, LOC119407399 +2632 more | Copy number loss | See cases | |
| | LOC130068054, LOC130068055 +2631 more | Copy number loss | See cases | |
| | LOC130068194, LOC130068195 +2632 more | Copy number loss | See cases | |
| | LOC126863191, LOC126863192 +2633 more | Copy number gain | See cases | |
| | LOC130068432, LOC130068433 +2633 more | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |