| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +3 more) | Lethal polymalformative syndrome, Boissel type | |
| | | Single nucleotide variant (missense variant +1 more) | Lethal polymalformative syndrome, Boissel type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Lethal polymalformative syndrome, Boissel type | |
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