| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130004555, LOC130004556
+375 more | Copy number loss | See cases | |
| | LOC126861015, LOC129390222
+63 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC2, LOC126861013 (V1114fs) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
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