| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DLGAP4-AS1, MYL9 (K116N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DLGAP4-AS1, MYL9 (D171H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DLGAP4-AS1, MYL9 (R144Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DLGAP4-AS1, MYL9 (D149H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | Visceral myopathy 1 | |
| | | Deletion (splice donor variant) | Visceral myopathy 1 | |
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