| | | Single nucleotide variant (missense variant) | Karyomegalic interstitial nephritis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 14 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Thrombocythemia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary von Willebrand disease +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial cold autoinflammatory syndrome 3 | |
| | | Single nucleotide variant (missense variant) | TG-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemochromatosis +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +6 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674475 (R553*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674475 (G542*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |