| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate E +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate E +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 5 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
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