| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130064475, LTBP4 (E230* +2 more) | Single nucleotide variant (nonsense) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | LOC130064475, LTBP4 (S300F +2 more) | Single nucleotide variant (missense variant) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more | |
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