| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +4 more | |
Click to view in NCBI Gene