| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | not specified +9 more | |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +12 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | SCN5A-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant +1 more) | Unilateral renal agenesis +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Connective tissue disorder +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | LARS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | PEX6-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +4 more | |
| | | Duplication (frameshift variant +1 more) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (intron variant) | BENTA disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARD11 deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not specified +11 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Platelet-type bleeding disorder 10 +1 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674477 (Q1476*) | Single nucleotide variant (nonsense) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Long QT syndrome 1 +8 more | |
| | HBB, LOC106099062
+1 more (E27K) | Single nucleotide variant (missense variant) | Inborn genetic diseases +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | Transitory neonatal diabetes mellitus +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NDUFV1-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COL2A1-related skeletal dysplasia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia +4 more | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy 94 +3 more | |
| | | Microsatellite (inframe_indel +3 more) | Fanconi anemia +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 2 +22 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (splice acceptor variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | ATP1A3-associated neurological disorder +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Rett syndrome | |