| | | Deletion | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Duplication (frameshift variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion (splice donor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Insertion (frameshift variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice donor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome +1 more | |
| | | Duplication | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice donor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice donor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Duplication | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion (splice acceptor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (splice donor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Duplication (inframe_insertion) | X-linked intellectual disability-cerebellar hypoplasia syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | OPHN1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | OPHN1-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Deletion | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Microsatellite (frameshift variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (nonsense) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Duplication (frameshift variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion (frameshift variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |