| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | DOK7, LOC126806951 (G185R) | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 1 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant +1 more) | not provided +8 more | |
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