| | | Single nucleotide variant (missense variant +1 more) | Multiple sclerosis, susceptibility to | |
| | | Deletion (3 prime UTR variant +1 more) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Periventricular laminar heterotopia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Insertion (splice acceptor variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Deficiency of iodide peroxidase | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, moderate | |
| | | Indel (frameshift variant +1 more) | Intellectual disability, moderate | |
| | | Deletion (frameshift variant) | 3M syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with nail dystrophy | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with nail dystrophy | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with nail dystrophy | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with nail dystrophy | |
| | | Insertion (splice acceptor variant) | Epidermolysis bullosa simplex with nail dystrophy | |
| | | Insertion (nonsense +1 more) | Epidermolysis bullosa simplex with nail dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex with nail dystrophy | |
| | | Single nucleotide variant (missense variant) | Deficiency of iodide peroxidase | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex with nail dystrophy | |
| | | Deletion (frameshift variant +1 more) | Tooth agenesis | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis | |
| | | Single nucleotide variant (missense variant +1 more) | Tooth agenesis | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis | |
| | | Single nucleotide variant (missense variant) | FREM2-related condition +2 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) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | PTCH1-related condition +2 more | |