| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BSCL2, HNRNPUL2-BSCL2 (R454* +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Severe neurodegenerative syndrome with lipodystrophy +1 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (P364S +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary spastic paraplegia 17 +7 more | |
| | BSCL2, HNRNPUL2-BSCL2 (R256H) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (A282T +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 +5 more | |
| | BSCL2, HNRNPUL2-BSCL2 (S210L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 17 | |
| | BSCL2, HNRNPUL2-BSCL2 (T123S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital generalized lipodystrophy type 2 +4 more | |
Click to view in NCBI Gene