| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 5 | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive non-syndromic intellectual disability +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 5 | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number loss | 5p partial monosomy syndrome | |
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