| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (splice donor variant) | 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) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | 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 +1 more | |
| | | 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 +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | 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 (synonymous 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 (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous 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 (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Duplication (frameshift variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B +2 more | |
| | | Single nucleotide variant (synonymous 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) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cutis laxa | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Duplication (frameshift variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Duplication (inframe_insertion +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Indel (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B +2 more | |
| | | Duplication (frameshift variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Cutis laxa, autosomal recessive, type 1B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |