| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +2 more | GPathogenic/Likely pathogenic |
| | | 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 |
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