| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Amelocerebrohypohidrotic syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Amelocerebrohypohidrotic syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Amelocerebrohypohidrotic syndrome | |
| | | Single nucleotide variant (splice donor variant) | Amelocerebrohypohidrotic syndrome | GPathogenic/Likely pathogenic |
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