| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (nonsense +3 more) | BLOOD GROUP, EMM SYSTEM +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 53 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 53 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene