| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more | |
| | | Copy number gain | 20q13.13qter duplication | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066385, LOC130066386 +553 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066383, LOC130066384 +464 more | Copy number gain | See cases | |
| | LOC130066289, LOC130066290 +491 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121627913, LOC121853014 +175 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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