| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability, autosomal recessive 58 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 58 | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal recessive 58 | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 58 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 58 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 58 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | not provided | |
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