| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormal facial shape +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +5 more | |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene