| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Deficiency of phosphoserine phosphatase +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | PSPH-related condition | |
| | | Single nucleotide variant (synonymous variant) | PSPH-related condition +1 more | |
Click to view in NCBI Gene