| | | Indel | Cutis laxa, autosomal recessive, type 1A | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift 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 (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | GPathogenic/Likely pathogenic |
| | | 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 (missense variant) | Cutis laxa, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cutis laxa, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal recessive, type 1A | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift 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 (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |