| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Lethal polymalformative syndrome, Boissel type | |
| | | Single nucleotide variant (splice acceptor variant) | Body mass index quantitative trait locus 14 | |
| | | Single nucleotide variant (missense variant +3 more) | Lethal polymalformative syndrome, Boissel type | |
| | | Single nucleotide variant (nonsense) | Lethal polymalformative syndrome, Boissel type | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
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