| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | BSCL2, HNRNPUL2-BSCL2 (K268R) | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary spastic paraplegia +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Severe neurodegenerative syndrome with lipodystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +7 more | |
Click to view in NCBI Gene