| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal recessive 13 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (nonsense +1 more) | Abnormality of the nervous system +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
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