| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AASDHPPT, ABCG4
+1199 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ROBO3, LOC130007006 (P868L) | Single nucleotide variant (5 prime UTR variant +2 more) | Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more | |
| | LOC130007006, ROBO3 (L880fs) | Duplication (5 prime UTR variant +2 more) | not provided | |
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