| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | CEDNIK syndrome | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | CEDNIK syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
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