| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | GBenign/Likely benign; other; risk factor |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 4 | |
| | | Deletion (inframe_deletion) | Hereditary spastic paraplegia 4 | |
| | | Deletion (frameshift variant +1 more) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 4 +2 more | |
| | OFD1, TRAPPC2 (Q125fs +1 more) | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
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