| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 +1 more | |
| | | Deletion (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (synonymous variant) | Giant axonal neuropathy 1 | |
| | | Deletion (frameshift variant) | Giant axonal neuropathy 1 | |
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