| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | PPFIA3-associated neurodevelopmental disorder | |
| | LOC130064903, PPFIA3 (Q71H) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | PPFIA3-related disorder | |
| | LOC130064903, PPFIA3 (E40K) | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
| | LOC130064903, PPFIA3 (Q80P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130064903, PPFIA3 (R39C) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130064904, PPFIA3 (P1165A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130064903, PPFIA3 (L43Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
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