| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PAXBP1, PAXBP1-AS1 (C853S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PAXBP1, PAXBP1-AS1 (S903N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PAXBP1, PAXBP1-AS1 (K823R) | Single nucleotide variant (missense variant +1 more) | not specified | |
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