| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (frameshift variant) | 8q24.3 microdeletion syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | |
Click to view in NCBI Gene