| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126861648, LOC126861649
+4836 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | MAPKAPK5, MAPKAPK5-AS1 (S6P +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAPKAPK5-AS1, MAPKAPK5 (I11V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
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