| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 49 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 49 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 49 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 49 | |
| | LOC130056519, TECPR2 (R843H) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 49 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
Click to view in NCBI Gene