| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (inframe_deletion +1 more) | Loeys-Dietz syndrome 4 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (frameshift variant +1 more) | Loeys-Dietz syndrome 4 | |
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