| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | LOC130006108, LOC130006109
+72 more | Duplication | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (5 prime UTR variant) | PACS1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
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