| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KIF1A, LOC126806583 (R1185Q +8 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 30 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 9 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene