| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC107372315, OSGEP (G106V) | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 3 | |
| | ARHGEF40, BCL2L2
+152 more | Copy number gain | not provided | |
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