| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | BSCL2, HNRNPUL2-BSCL2 (R456H +2 more) | Single nucleotide variant (missense variant +2 more) | Monogenic diabetes +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 +6 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (L427P +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Severe neurodegenerative syndrome with lipodystrophy +10 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (E340del +2 more) | Microsatellite (inframe_deletion +2 more) | Congenital generalized lipodystrophy type 2 +4 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (S280F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Monogenic diabetes +6 more | GConflicting classifications of pathogenicity |
| | HNRNPUL2-BSCL2, BSCL2 (A218V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | BSCL2-related condition +7 more | GConflicting classifications of pathogenicity |
| | BSCL2, HNRNPUL2-BSCL2 (N3H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 +5 more | |
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