| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Deletion | Glycogen storage disease, type V +1 more | |
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