| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | LOC130064475, LTBP4 (Q241R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121627876, LTBP4 (P317S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | | Duplication (frameshift variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | LOC130064475, LTBP4 (G218D +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC121627876, LTBP4 (C344* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC121627876, LTBP4 (C294* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC130064475, LTBP4 (G279S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130064475, LTBP4 (G250C +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121627876, LTBP4 (S392F +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121627876, LTBP4 (T380M +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130064475, LTBP4 (A248V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130064475, LTBP4 (A251T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130064475, LTBP4 (L250V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130064476, LTBP4 (A558P +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC121627876, LTBP4 (R356H +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130064475, LTBP4 (E230* +2 more) | Single nucleotide variant (nonsense) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | LOC121627876, LTBP4 (G311V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121627876, LTBP4 (T338M +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC130064475, LTBP4 (W319* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | LOC130064475, LTBP4 (L259V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | LOC130064475, LTBP4 (C257Y +2 more) | Single nucleotide variant (missense variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | | Deletion (frameshift variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | LOC121627876, LTBP4 (P276L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121627876, LTBP4 (P308A +2 more) | Single nucleotide variant (missense variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC121627876, LTBP4 (A272S +2 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (inframe_insertion +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | LOC130064475, LTBP4 (S300F +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC130064475, LTBP4 (C274G +2 more) | Single nucleotide variant (missense variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | LOC130064475, LTBP4 (P234fs +2 more) | Deletion (frameshift variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |