| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Atypical glycine encephalopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Familial adenomatous polyposis 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Schneckenbecken dysplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Medium-chain acyl-coenzyme A dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense +2 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal stromal tumor +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129936056, SUMF1 (G82*) | Single nucleotide variant (nonsense) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary nonpolyposis colorectal neoplasms +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (nonsense) | Paragangliomas 5 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Perrault syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bifunctional peroxisomal enzyme deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 3B | |
| | | Single nucleotide variant (nonsense) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | | Single nucleotide variant (missense variant +1 more) | Distal myopathy with posterior leg and anterior hand involvement | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary nonpolyposis colorectal neoplasms | |
| | | Single nucleotide variant (nonsense +3 more) | Lynch syndrome 4 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary nonpolyposis colorectal neoplasms | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome | |
| | DBNL, LOC129998343
+1 more (V82L) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial melanoma | |
| | | Single nucleotide variant (missense variant +1 more) | Familial melanoma | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 23 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (nonsense) | Beckwith-Wiedemann syndrome | |
| | CYP2R1, PDE3B (E49* +3 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +3 more) | Aniridia 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple endocrine neoplasia, type 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense +3 more) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +2 more) | Propionic acidemia | |
| | | Single nucleotide variant (nonsense +2 more) | Propionic acidemia | |
| | | 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) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Giant axonal neuropathy 1 | |