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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1A, LOC126806583
(V1154M +8 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Microsatellite
(intron variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
KIF1A
(E917del +3 more)
Microsatellite
(inframe_deletion +1 more)
not specified
+3 more
GBenign/Likely benign
KIF1A
Microsatellite
(inframe_insertion)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
(R18Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
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