| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Deletion (splice acceptor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Deletion (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | |
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