| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 1A +4 more | |
| | | Microsatellite (inframe_deletion +1 more) | Neuropathy, hereditary sensory and autonomic, type 1A +7 more | GPathogenic/Likely pathogenic |
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