| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 2 +7 more | |
| | | Microsatellite (inframe_deletion) | Congenital muscular hypertrophy-cerebral syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +6 more | |
Click to view in NCBI Gene