| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Abnormality of the nervous system +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 | |
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