| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome +4 more | |
| | | Indel (inframe_indel) | Loeys-Dietz syndrome 2 +1 more | |
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