| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 42 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal recessive 42 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal recessive 42 +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 42 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal recessive 42 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal recessive 42 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal recessive 42 +3 more | |
Click to view in NCBI Gene