| | | Duplication (intron variant +1 more) | Oculopharyngeal muscular dystrophy | |
| | | Indel (missense variant) | Oculopharyngeal muscular dystrophy | |
| | | 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) | Oculopharyngeal muscular dystrophy +1 more | GConflicting classifications of pathogenicity |
| | BCL2L2-PABPN1, PABPN1 (A11T) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Duplication (inframe_insertion +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite | Oculopharyngeal muscular dystrophy | |
| | | Duplication (inframe_insertion +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion +2 more) | not provided +1 more | |
| | PABPN1, BCL2L2-PABPN1 (P57S) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Microsatellite (inframe_insertion +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | 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 | |