| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTR9, LOC126861140 (E376K) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CTR9, LOC126861140 (N455S) | Single nucleotide variant (missense variant) | CTR9-related neurodevelopmental disorder | |
| | CTR9, LOC126861140 (E469K) | Single nucleotide variant (missense variant) | CTR9-related neurodevelopmental disorder | |
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