| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +1 more | |
| | | Indel (non-coding transcript variant +1 more) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability | |
| | | Deletion (frameshift variant +1 more) | not provided | |
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