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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBAP1
(M102L +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 80, autosomal dominant
GUncertain significance
UBAP1
(K207fs +2 more)
Deletion
(frameshift variant +1 more)
Spastic paraplegia 80, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
UBAP1
(P390L +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 80, autosomal dominant
GUncertain significance
UBAP1
(E455fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GUncertain significance
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