| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Cobalamin C disease +3 more | |
| | | Single nucleotide variant (missense variant) | Chronic pain +13 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease type III +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Muscle AMP deaminase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GConflicting classifications of pathogenicity; other |
| | LIX1L-AS1, LOC126805851
+1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | LOC126806068, RYR2 (N4251S) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Fibromatosis, gingival, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Alstrom syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Alstrom syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Alstrom syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | TTN, TTN-AS1 (S19608F +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +3 more | |
| | TTN, TTN-AS1 (R21485* +5 more) | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more | GConflicting classifications of pathogenicity |
| | MED12L, P2RY12 (I1361V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Microsatellite (intron variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sudden cardiac failure, infantile +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ANK2-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | TRIO-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Renal carnitine transport defect +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |
| | | Single nucleotide variant (missense variant +1 more) | HFE-related disorder +19 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (splice donor variant) | DeSanto-Shinawi syndrome due to WAC point mutation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Pituitary adenoma 5, multiple types +1 more | |
| | | Deletion (frameshift variant) | Sphingolipid activator protein 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1DD +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | FGFR2-related craniosynostosis +2 more | |
| | | Deletion | Left ventricular noncompaction 10 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Hypertrophic cardiomyopathy 4 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RASopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Kabuki syndrome 1 +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Deletion | Autosomal recessive nonsyndromic hearing loss 1B +5 more | GPathogenic/Likely pathogenic |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Abnormality of the nervous system +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, familial hypertrophic 27 +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, familial hypertrophic 27 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Interstitial lung disease due to ABCA3 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DOORS syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Combined malonic and methylmalonic acidemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | GPathogenic/Likely pathogenic |
| | FANCA, ZNF276 (I1396M +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 17 +1 more | |
| | | Single nucleotide variant (missense variant) | Immune deficiency, familial variable +21 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Tarsal-carpal coalition syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 16 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Familial hypercholesterolemia +3 more | |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +21 more | GPathogenic/Likely pathogenic |