| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC125467786, LOC125467787
+1203 more | Copy number loss | See cases | |
| | LOC126863293, LOC126863294
+478 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC101928335, MID2 (K560R +3 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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