| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +5 more | GPathogenic/Likely pathogenic |
| | EIF3F, LOC126861132 (T303I) | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 67 | |
| | C11orf40, C11orf42
+243 more | Copy number gain | Silver-Russell syndrome 1 | |
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