| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 4J | |
| | | Deletion (frameshift variant) | Yunis-Varon syndrome | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Indel (frameshift variant) | Charcot-Marie-Tooth disease +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 4 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Indel (nonsense) | Charcot-Marie-Tooth disease +1 more | |
| | | Indel (frameshift variant) | Charcot-Marie-Tooth disease +1 more | |
| | | Inversion (nonsense) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4 | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 4 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
Click to view in NCBI Gene