| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Duplication (frameshift variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene