| | PPP3CB-AS1, USP54 (F1287I +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | PPP3CB-AS1, USP54 (G1413D +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (S1569P +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (G1392R +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (H1507N +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (K1599N +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (P1453L +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | PPP3CB-AS1, USP54 (E1255K +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | PPP3CB-AS1, USP54 (A1385P +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (S1212T +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC121815949, USP54 (G718A) | Single nucleotide variant (missense variant +1 more) | USP54-related disorder | |
| | PPP3CB-AS1, USP54 (R1245* +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | USP54-related disorder | |
| | PPP3CB-AS1, USP54 (R1301C +7 more) | Single nucleotide variant (missense variant +1 more) | USP54-related disorder | |
| | PPP3CB-AS1, USP54 (T1412A +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (L1603V +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (P1423S +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (G1481S +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (P1417A +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (H1211R +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (R1360C +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | |
| | PPP3CB-AS1, USP54 (Q1309R +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | PPP3CB-AS1, USP54 (R1431H +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (V1484I +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (R1523Q +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (V1273I +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | PPP3CB-AS1, USP54 (P1436S +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC121815949, USP54 (S626L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PPP3CB-AS1, USP54 (S1458G +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | PPP3CB-AS1, USP54 (R1352H +5 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |