| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PABPN1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | BCL2L2-PABPN1, PABPN1 (P153S +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | BCL2L2-PABPN1, PABPN1 (P80L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (intron variant +1 more) | Oculopharyngeal muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | BCL2L2-PABPN1, PABPN1 (P40S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | BCL2L2-PABPN1, PABPN1 (G85V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (inframe_insertion +1 more) | Oculopharyngeal muscular dystrophy | |
| | BCL2L2-PABPN1, PABPN1 (S209fs +4 more) | Duplication (frameshift variant) | Oculopharyngeal muscular dystrophy | |
| | | Duplication (inframe_insertion +1 more) | Oculopharyngeal muscular dystrophy | |
| | BCL2L2-PABPN1, PABPN1 (A13P) | Single nucleotide variant (missense variant +1 more) | Oculopharyngeal muscular dystrophy | |
| | BCL2L2-PABPN1, PABPN1 (A11del) | Microsatellite (inframe_deletion +2 more) | Oculopharyngeal muscular dystrophy | |
| | PABPN1, BCL2L2-PABPN1 (S90L) | Single nucleotide variant (missense variant +1 more) | Oculopharyngeal muscular dystrophy | |
| | PABPN1, BCL2L2-PABPN1 (P81R) | Single nucleotide variant (missense variant +1 more) | Oculopharyngeal muscular dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PABPN1-related condition +1 more | GConflicting classifications of pathogenicity |
| | BCL2L2-PABPN1, PABPN1 (M161V +4 more) | Single nucleotide variant (missense variant) | Oculopharyngeal muscular dystrophy | |
| | BCL2L2-PABPN1, PABPN1 (A9V) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | BCL2L2, BCL2L2-PABPN1 +14 more | Deletion | Specific granule deficiency | |
| | | Duplication | Lysinuric protein intolerance +1 more | |
| | PABPN1, BCL2L2-PABPN1 (E37Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BCL2L2-PABPN1, PABPN1 (A13D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PABPN1, BCL2L2-PABPN1 (G16C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BCL2L2-PABPN1, PABPN1 (A6V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BCL2L2-PABPN1, PABPN1 (A10P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | Seizure | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | BCL2L2, BCL2L2-PABPN1 +6 more | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | BCL2L2-PABPN1, PABPN1 (A11T) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (inframe_insertion +2 more) | not provided +1 more | |
| | | Microsatellite (inframe_insertion +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion +1 more) | Oculopharyngeal muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PABPN1-related condition +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite | Oculopharyngeal muscular dystrophy | |
| | | Copy number gain | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication (inframe_insertion +1 more) | Oculopharyngeal muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | not provided | |
| | ARHGEF40, BCL2L2 +152 more | Copy number gain | not provided | |
| | | Microsatellite (inframe_insertion +2 more) | not provided +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | BCL2L2-PABPN1-related condition +1 more | GConflicting classifications of pathogenicity |
| | 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 | |
| | | Microsatellite (inframe_insertion +2 more) | not provided | |
| | | Microsatellite (inframe_insertion +2 more) | Oculopharyngeal muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | See cases | |
| | BCL2L2-PABPN1, PABPN1 (S221P +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | PABPN1-related condition +2 more | |
| | | Copy number gain | See cases | |
| | LOC126861920, LOC126861921 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130055370, LOC130055371 +840 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | BCL2L2-PABPN1, PABPN1 (G12A) | Single nucleotide variant (missense variant +1 more) | PABPN1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (no sequence alteration +2 more) | Oculopharyngeal muscular dystrophy | |