| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (missense variant) | Childhood hypophosphatasia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Left-right axis malformations | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | SEMA3F-related disorder | |
| | | Single nucleotide variant (missense variant) | RFT1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial encephalopathy with neuroserpin inclusion bodies | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 7 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | GCNT2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 5A (Zellweger) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 12 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Genitopatellar syndrome | |
| | ILK, TAF10 (E359K +2 more) | Single nucleotide variant (missense variant +1 more) | Primary familial hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BTBD6, BRF1 (E245K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 27 | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gamma-aminobutyric acid transaminase deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant) | Birt-Hogg-Dube syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | ATAD5-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Polyglandular autoimmune syndrome, type 1 | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | RAB36, RSPH14 (E298K +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |