| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder, autosomal recessive 67 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | EIF3F, LOC126861132 (S267G) | Single nucleotide variant (missense variant) | not provided | |
| | EIF3F, LOC126861132 (R306C) | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 67 +1 more | |
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