| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +2 more | |
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