| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126805598, PLEKHG5 (P12T +2 more) | Single nucleotide variant (missense variant) | PLEKHG5-related condition +4 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more | GConflicting classifications of pathogenicity |
| | LOC126805598, PLEKHG5 (L11P +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease recessive intermediate C +4 more | |
| | LOC126805598, PLEKHG5 (D41N +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
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