| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Fabry disease | |
| | | Duplication | X-linked agammaglobulinemia with growth hormone deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | 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 (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Deafness dystonia syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Deafness dystonia syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | not specified | |
| | | Indel (missense variant) | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Deafness dystonia syndrome | |
| | | Deletion | Deafness dystonia syndrome | |
| | | Deletion | Deafness dystonia syndrome | |
| | | Deletion | Deafness dystonia syndrome | |
| | | Deletion (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Copy number loss | Xq21.32q23 deletion | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Insertion (3 prime UTR variant +1 more) | Deafness dystonia syndrome | |
| | | Deletion (frameshift variant) | Deafness dystonia syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CXorf49B, CXorf51A +821 more | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Deletion | Deafness dystonia syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Deafness dystonia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | 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 loss | not provided | |
| | | Copy number loss | not provided | |
| | | Indel | Heterotaxy, visceral, 1, X-linked | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | LOC130068573, LOC130068624 +2631 more | Duplication | Schizophrenia +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |