| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | |
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