| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +13 more | |
| | | Single nucleotide variant (missense variant) | Abnormal upper limb bone morphology +15 more | |
| | | Deletion (frameshift variant) | Rare genetic deafness +22 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cognitive impairment +12 more | |
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