| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BSCL2, HNRNPUL2-BSCL2 (E394del +3 more) | Microsatellite (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | BSCL2, HNRNPUL2-BSCL2 (A218fs +1 more) | Deletion (non-coding transcript variant +1 more) | Congenital generalized lipodystrophy type 2 +1 more | GPathogenic/Likely pathogenic |
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