| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC613266, MACROD2
+950 more | Copy number gain | See cases | |
| | KIZ, LOC130065507 (E28K +1 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | KIZ, LOC130065507 (E45D +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
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