| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary antithrombin deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Deficiency of aromatic-L-amino-acid decarboxylase | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ENTPD1, ENTPD1-AS1 (F206S +5 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Very long chain acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant +1 more) | Surfactant metabolism dysfunction, pulmonary, 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |