| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | LOC129993734, RETREG1
+1 more (A19S) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | LOC129993734, RETREG1
+1 more (E8Q) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
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