| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (3 prime UTR variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Insertion (3 prime UTR variant +1 more) | not provided | |
| | APPL1, ASB14
+1 more (E700G) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Copy number loss | See cases | |
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