| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Amelocerebrohypohidrotic syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Amelocerebrohypohidrotic syndrome | |
Click to view in NCBI Gene