| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 52 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 52 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 52 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal recessive 52 +1 more | |
Click to view in NCBI Gene