| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC613266, MACROD2
+950 more | Copy number gain | See cases | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Syndromic multisystem autoimmune disease due to ITCH deficiency +1 more | |
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