| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Deletion (frameshift variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Deletion (frameshift variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Deletion (frameshift variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | |