| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | EFEMP2-related condition +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
Click to view in NCBI Gene