| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BCL2L2-PABPN1, PABPN1 (G18C) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PABPN1, BCL2L2-PABPN1 (P57S) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | PABPN1-related condition +2 more | |
| | BCL2L2-PABPN1, PABPN1 (S221P +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | BCL2L2-PABPN1-related condition +1 more | GConflicting classifications of pathogenicity |
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