| | | Single nucleotide variant (nonsense) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | ACTG2-related condition +2 more | GPathogenic/Likely pathogenic |
| | | 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 (intron variant) | Visceral myopathy 1 | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 1 | |
| | | Single nucleotide variant (missense variant) | Chronic intestinal pseudoobstruction +1 more | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ACTG2-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | ACTG2-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Visceral myopathy 1 | |
| | | Duplication (frameshift variant) | Visceral myopathy 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Visceral myopathy 1 | |