| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3
+422 more | Copy number gain | See cases | |
| | MESP2, LOC130057891 (H102Q) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | LOC130057891, MESP2 (E103*) | Single nucleotide variant (nonsense) | not provided | |
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