| | | Single nucleotide variant (nonsense) | Narrow chest +18 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypertelorism +16 more | |
| | | Copy number gain | Severe global developmental delay +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital cerebellar hypoplasia +7 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria, cblA type +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Severe global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | EPM2A-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +3 more | |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Adenylosuccinate lyase deficiency +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Tip-toe gait +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Ventricular septal defect +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Seizure +8 more | |