| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary pheochromocytoma-paraganglioma +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7A +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +3 more | GPathogenic/Likely pathogenic |
| | LOC126806665, ZDHHC3 (A46T) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | ZNF141-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +1 more | |
| | NREP, STARD4-AS1 (A90T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 23 | |
| | EPM2A, EPM2A-DT
+1 more (A46T) | Single nucleotide variant (missense variant +2 more) | Seizure +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | 5-Oxoprolinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Sialuria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | DK1-congenital disorder of glycosylation | |
| | ABL1, LOC107980440 (A65T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1W +1 more | |
| | GLUD1, LOC130004255
+1 more (A46T) | Single nucleotide variant (5 prime UTR variant +1 more) | Hyperinsulinism-hyperammonemia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Wilms tumor 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | LIPT2, LIPT2-AS1
+1 more (A46T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Gaze palsy, familial horizontal, with progressive scoliosis 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130009029, MLXIP (A46T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary pheochromocytoma-paraganglioma +1 more | |
| | | Single nucleotide variant (missense variant) | Mosaic variegated aneuploidy syndrome 1 +1 more | |
| | AFG2B, LOC130056997 (A46T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive familial heart block type IB | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Adenylosuccinate lyase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |