| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | Intellectual disability, X-linked 102 | |
| | | Microsatellite (frameshift variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Indel (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Deletion (frameshift variant +1 more) | X-linked intellectual disability-hypotonia-movement disorder syndrome +3 more | |
Click to view in NCBI Gene