| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | PYCR1-related de Barsy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive cutis laxa type 2B | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive cutis laxa type 2B | |
| | | Insertion (frameshift variant) | PYCR1-related de Barsy syndrome | |
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