| | BSCL2, HNRNPUL2-BSCL2 (Y228* +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (Y187C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (E113* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (L155P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (Y120fs +1 more) | Deletion (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (C100Y +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (R160S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (T142A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital generalized lipodystrophy type 2 +1 more | |
| | BSCL2, HNRNPUL2-BSCL2 (S154W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (A218fs +1 more) | Deletion (non-coding transcript variant +1 more) | Congenital generalized lipodystrophy type 2 +1 more | GPathogenic/Likely pathogenic |
| | BSCL2, HNRNPUL2-BSCL2 (I326fs +1 more) | Duplication (non-coding transcript variant +2 more) | Neuronopathy, distal hereditary motor, type 5C +5 more | |
| | | Single nucleotide variant (intron variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital generalized lipodystrophy type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (P65fs +1 more) | Indel (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (Y117fs +1 more) | Duplication (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (E180* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy +1 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (R329*) | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital generalized lipodystrophy type 2 +1 more | |
| | BSCL2, HNRNPUL2-BSCL2 (E189* +1 more) | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (R339*) | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital generalized lipodystrophy type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (S90L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 +2 more | GPathogenic/Likely pathogenic |
| | BSCL2, HNRNPUL2-BSCL2 (N88S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Berardinelli-Seip congenital lipodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | BSCL2, HNRNPUL2-BSCL2 (Y213fs +1 more) | Deletion (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (A212P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (splice donor variant) | Berardinelli-Seip congenital lipodystrophy +1 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (R138* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +2 more | |
| | BSCL2, HNRNPUL2-BSCL2 (T109fs +1 more) | Duplication (frameshift variant +1 more) | Congenital generalized lipodystrophy type 2 +4 more | |
| | BSCL2, HNRNPUL2-BSCL2 (Y170fs +1 more) | Deletion (non-coding transcript variant +1 more) | not provided | |
| | BSCL2, HNRNPUL2-BSCL2 (Y170fs +1 more) | Deletion (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy +1 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (M101fs +1 more) | Insertion (non-coding transcript variant +1 more) | Congenital generalized lipodystrophy type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (S64fs +1 more) | Indel (frameshift variant +1 more) | Berardinelli-Seip congenital lipodystrophy +1 more | GConflicting classifications of pathogenicity |