| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Microsatellite (inframe_insertion) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cataract 21 multiple types +1 more | |
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