| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Deletion (intron variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | methotrexate response - Toxicity | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hypophosphatasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Adult hypophosphatasia +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | See cases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | See cases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +2 more | |
| | | Duplication (frameshift variant) | Methylmalonic aciduria and homocystinuria +6 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | |
| | | Single nucleotide variant (missense variant) | Hypobetalipoproteinemia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Medium-chain acyl-coenzyme A dehydrogenase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic spasm +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense +1 more) | Retinitis pigmentosa 19 +5 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +7 more | |
| | | Single nucleotide variant (missense variant) | See cases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | See cases +4 more | |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GConflicting classifications of pathogenicity |
| | ALG14, LOC129930989 (S45P) | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Duplication (frameshift variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | ASH1L, MIR555 (P2625T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Primary familial dilated cardiomyopathy +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial hemiplegic migraine +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +2 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | See cases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Duplication (nonsense) | See cases | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Duplication (frameshift variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | See cases +2 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +5 more | |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Single nucleotide variant (missense variant) | See cases +2 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 4 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fibromatosis, gingival, 1 +3 more | |
| | | Duplication (frameshift variant) | See cases | |
| | | Duplication (splice donor variant) | See cases | |
| | | Single nucleotide variant (intron variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases | |
| | LHCGR, STON1-GTF2A1L (L16Q) | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Deletion (frameshift variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | See cases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | See cases | |