| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Deletion (inframe_deletion +4 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4H +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4H +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene