| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | NRXN1-related disorder | |
| | FANCL, VRK2 (D417H +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia complementation group L | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein C deficiency, autosomal dominant | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | MAP4-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Idiopathic Pulmonary Fibrosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EYA4, TARID (D386H +4 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1J +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Zellweger spectrum disorders | |
| | CASD1, SGCE (A281P +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126860802, ZMYND11 (V336L +15 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) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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) | Inborn genetic diseases | |
| | | 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 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 6 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 25 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Very long chain acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Sessile serrated polyposis cancer syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | ACSBG2, LOC105372255 (G367R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CEACAM16, CEACAM16-AS1 (V417L) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital hereditary endothelial dystrophy of cornea +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 3B | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 8 | |