| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KIF1A, LOC126806583 (V1199M +8 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 30 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +6 more | GConflicting classifications of pathogenicity |
| | KIF1A, LOC126806583 (T1177M +8 more) | Single nucleotide variant (missense variant) | KIF1A-related disorder +6 more | |
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