| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KIF1A, LOC126806583 (W1190* +8 more) | Single nucleotide variant (nonsense) | KIF1A-related disorder | |
| | KIF1A, LOC126806583 (T1177M +8 more) | Single nucleotide variant (missense variant) | not specified +6 more | |
| | KIF1A, LOC126806583 (R1175* +8 more) | Single nucleotide variant (nonsense) | Neuropathy, hereditary sensory, type 2C +4 more | GConflicting classifications of pathogenicity |
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