| | | Single nucleotide variant (splice acceptor variant) | Multiple sclerosis, susceptibility to | |
| | | Deletion (nonsense +1 more) | Multiple sclerosis, susceptibility to | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple sclerosis, susceptibility to | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 78 with autoimmunity and developmental delay | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 +3 more | GConflicting classifications of pathogenicity |
| | | Variation | Multiple sclerosis, susceptibility to 1 | |
| | | Single nucleotide variant (missense variant) | Primary degenerative dementia of the Alzheimer type, presenile onset +4 more | GConflicting classifications of pathogenicity; other; risk factor |
| | | Single nucleotide variant (intron variant) | CILIARY NEUROTROPHIC FACTOR POLYMORPHISM | |
| | | Microsatellite (intron variant) | Gastric cancer susceptibility after h. pylori infection +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Systemic lupus erythematosus, association wit 2 +1 more | |
| | AP4B1-AS1, PTPN22 (R620W +2 more) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |