| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Visceral myopathy 1 | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Visceral myopathy 1 | |
| | | Single nucleotide variant (missense variant) | ACTG2-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +4 more | |
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