| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CELSR2, LOC110121283 (E1065Q) | Single nucleotide variant (missense variant) | CELSR2-related disorder | |
| | CELSR2, LOC110121283 (R1066Q) | Single nucleotide variant (missense variant) | not provided +1 more | |
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