| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +4 more | |
| | | Duplication (frameshift variant) | Roussy-Lévy syndrome | |
| | | Duplication (frameshift variant) | Roussy-Lévy syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Charcot-Marie-Tooth disease, type I +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Roussy-Lévy syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene