| | | Single nucleotide variant (missense variant) | Polyhydramnios +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrops fetalis | |
| | | Deletion (frameshift variant) | Hypertrophic cardiomyopathy +4 more | |
| | | Deletion (frameshift variant) | Hydrops fetalis | |
| | CCNH, RASA1 (Q457* +1 more) | Single nucleotide variant (nonsense +1 more) | Hydrops fetalis +1 more | |
| | | Single nucleotide variant (nonsense) | Hydrops fetalis | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Thickened nuchal skin fold +2 more | |
| | | Duplication (nonsense) | Thickened nuchal skin fold +1 more | |
| | LOC100289580, PIEZO1 (C513fs) | Deletion (frameshift variant) | Thickened nuchal skin fold +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PIEZO1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Hydrops fetalis | |
| | | Single nucleotide variant (missense variant) | Hydrops fetalis +3 more | |
| | | Single nucleotide variant (nonsense) | Intestinal obstruction +2 more | |
| | | Single nucleotide variant (nonsense) | Gastrointestinal obstruction +2 more | |
| | | Deletion (frameshift variant) | Hypertrophic cardiomyopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Hydrops fetalis +2 more | |
| | | Single nucleotide variant (missense variant) | Hydrops fetalis +6 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Familial hemiplegic migraine | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Copy number loss | Ventriculomegaly +6 more | |
| | | Single nucleotide variant (missense variant) | Ascites +8 more | |
| | | Indel (frameshift variant) | not provided +2 more | |
| | | | Central core myopathy | |
| | | Single nucleotide variant (nonsense) | Central core myopathy +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Severe hydrocephalus +4 more | GPathogenic/Likely pathogenic |