| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal recessive 65 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 65 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 65 | |
| | KDM5B, LOC129932249 (P45S) | Single nucleotide variant (missense variant) | See cases | |
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