| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | UFC1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with spasticity and poor growth | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with spasticity and poor growth | |
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