| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Steroid-resistant nephrotic syndrome +10 more | |
| | | Single nucleotide variant (splice donor variant) | Shwachman syndrome +11 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Microcephaly | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 4 +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
Click to view in NCBI Gene