| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more | |
| | LOC121725110, UNC80 (R1265* +2 more) | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
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