| | | Single nucleotide variant (missense variant +1 more) | Menkes kinky-hair syndrome | |
| | | Deletion (frameshift variant) | X-linked distal spinal muscular atrophy type 3 | |
| | | Deletion (frameshift variant) | X-linked distal spinal muscular atrophy type 3 | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, X-linked +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Menkes kinky-hair syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked distal spinal muscular atrophy type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | |
| | | Deletion (frameshift variant) | Menkes kinky-hair syndrome | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, X-linked +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | X-linked distal spinal muscular atrophy type 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Menkes kinky-hair syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked distal spinal muscular atrophy type 3 | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked distal spinal muscular atrophy type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, X-linked +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Menkes kinky-hair syndrome | |