| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BSCL2, HNRNPUL2-BSCL2 (L427P +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Neuronopathy, distal hereditary motor, type 5A +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | BSCL2-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Severe neurodegenerative syndrome with lipodystrophy +7 more | |
| | 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) | Hereditary spastic paraplegia 17 +8 more | |
| | HNRNPUL2-BSCL2, BSCL2 (R42C) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Monogenic diabetes +2 more | |
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