| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ADAMTSL4, LOC129931410 (R1013Q +2 more) | Single nucleotide variant (missense variant) | ADAMTSL4-related disorder +3 more | |
| | ADAMTSL4, LOC129931410 (S1026R +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | ADAMTSL4, LOC129931410 (R989H +2 more) | Single nucleotide variant (missense variant) | Ectopia lentis et pupillae +2 more | |
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