| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ELN, ELN-AS1 (V426M +11 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | ELN, ELN-AS1 (A442F +10 more) | Indel (missense variant +1 more) | Cutis laxa, autosomal dominant 1 +3 more | |
| | ELN, ELN-AS1 (V559I +11 more) | Single nucleotide variant (missense variant) | Supravalvar aortic stenosis +5 more | GConflicting classifications of pathogenicity |
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