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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1A, LOC126806583
(R1185Q +8 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(R316W)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
KIF1A
(R254Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 9
+3 more
GPathogenic/Likely pathogenic
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