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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEKHG5
(F647S +2 more)
Single nucleotide variant
(missense variant)
Hereditary motor neuron disease
+1 more
GConflicting classifications of pathogenicity
PLEKHG5
(P258L +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GLikely pathogenic