| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130010118, LOC130010119
+4 more | Deletion | NAD(P)HX dehydratase deficiency | |
| | NAXD, NAXD-AS1 (R15fs +1 more) | Deletion (5 prime UTR variant +2 more) | NAD(P)HX dehydratase deficiency | |
| | NAXD, NAXD-AS1 (V16I +1 more) | Single nucleotide variant (5 prime UTR variant +2 more) | NAD(P)HX dehydratase deficiency | |
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