| | LOC129931299, WARS2
+1 more (W13G) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Isolated cleft palate +4 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 67 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aortic root aneurysm +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Chronic obstructive pulmonary disease +7 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder +5 more | |
| | SNHG14, UBE3A (P827L +8 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | ALPK3-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Metachromatic leukodystrophy +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder +1 more | GConflicting classifications of pathogenicity |