| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129390190, LOC129390191
+610 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | LOC130003959, KIFBP (E23G) | Single nucleotide variant (missense variant) | KIFBP-related condition +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
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