| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Trichothiodystrophy 8, nonphotosensitive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 29 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 29 | |
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