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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEKHG5
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
PLEKHG5
(M480L +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
GLikely pathogenic