| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (missense variant) | DNAH7-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Candidiasis, familial, 9 | |
| | | Single nucleotide variant (missense variant) | Hearing impairment | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2R | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-C +1 more | |
| | LOC130000974, SYBU (V615M +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | GLE1, LOC101929270 (V617M) | Single nucleotide variant (missense variant) | Lethal arthrogryposis-anterior horn cell disease syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Walker-Warburg congenital muscular dystrophy +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary diffuse gastric adenocarcinoma | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary breast ovarian cancer syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |