| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type +1 more | |
| | | Duplication (non-coding transcript variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (nonsense +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Deletion (inframe_deletion +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
Click to view in NCBI Gene