| | | Single nucleotide variant (intron variant) | Neutrophil immunodeficiency syndrome | |
| | NKX2-1, NKX2-1-AS1
+1 more (G342C +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder 61 | |
| | RASSF1, RASSF1-AS1
+2 more (E337* +1 more) | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 22 | |
| | | Single nucleotide variant (missense variant) | MEHMO syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (synonymous variant +1 more) | Surfactant metabolism dysfunction, pulmonary, 1 | |
| | | Duplication (frameshift variant +2 more) | Variegate porphyria | |
| | | Single nucleotide variant (intron variant) | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | |
| | | Single nucleotide variant (missense variant) | Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | |
| | | Single nucleotide variant (splice donor variant) | Pyridoxine-dependent epilepsy | |
| | | Insertion (frameshift variant) | Mullegama-Klein-Martinez syndrome | |
| | | Deletion (frameshift variant) | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 2 | |
| | | Deletion (frameshift variant +1 more) | Renal tubular dysgenesis of genetic origin | |
| | | Single nucleotide variant (intron variant) | Polycystic kidney disease, adult type | |
| | | Microsatellite (frameshift variant +1 more) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (missense variant) | Hernia, anterior diaphragmatic | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease X-linked dominant 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Ciliary dyskinesia, primary, 38 | |
| | | Single nucleotide variant (missense variant) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with autism and macrocephaly | |
| | | Single nucleotide variant (missense variant) | Cortical dysplasia, complex, with other brain malformations 9 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 37 | |
| | | Single nucleotide variant (nonsense +1 more) | Global developmental delay with speech and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 2A | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hyperlipidemia, familial combined, LPL related | |
| | | Single nucleotide variant (missense variant +1 more) | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to LRBA deficiency | |
| | | Duplication (frameshift variant +1 more) | Agammaglobulinemia 8b, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type IA | |
| | | Duplication (frameshift variant +1 more) | Protoporphyria, erythropoietic, 1 | |
| | | Indel (inframe_indel) | Keratosis follicularis | |
| | PPM1N, RTN2 (R333fs +2 more) | Duplication (frameshift variant) | Hereditary spastic paraplegia 12 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial myopathy-lactic acidosis-deafness syndrome | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 | |
| | | Single nucleotide variant (missense variant) | Tremor, hereditary essential, 5 | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | |
| | | Deletion | Hepatic methionine adenosyltransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Hereditary angioedema type 1 | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 22 | |
| | | Deletion (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (splice donor variant) | Hypoparathyroidism, deafness, renal disease syndrome | |
| | | Duplication (frameshift variant +2 more) | Primary ciliary dyskinesia 32 | |
| | | Single nucleotide variant (nonsense) | Renal carnitine transport defect | |
| | | Microsatellite (frameshift variant) | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | |
| | GLA, RPL36A-HNRNPH2 (Q280del +1 more) | Deletion (inframe_deletion +2 more) | Fabry disease | |
| | | Single nucleotide variant (nonsense) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | Sialidosis type 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 46 | |
| | | Single nucleotide variant (nonsense +1 more) | ACTH-independent macronodular adrenal hyperplasia 2 | |
| | | Indel (frameshift variant +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome 5 | |
| | | Deletion (frameshift variant) | Monocytopenia with susceptibility to infections | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | |
| | | Indel (frameshift variant) | Odonto-onycho-dermal dysplasia | |
| | | Copy number loss | Breast-ovarian cancer, familial, susceptibility to, 3 | |
| | | Single nucleotide variant (splice donor variant) | Aortic aneurysm, familial thoracic 12 | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Duplication (intron variant) | Familial adenomatous polyposis 4 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 90 | |
| | JMJD8, STUB1 (N211S +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 | |
| | | Single nucleotide variant (synonymous variant) | Lopes-Maciel-Rodan syndrome | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 6 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hypogonadotropic hypogonadism 6 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | Episodic pain syndrome, familial, 2 | |
| | | Copy number loss | Lynch syndrome 1 | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Wilson disease | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive early-onset Parkinson disease 6 | |
| | | Single nucleotide variant (splice donor variant) | Waardenburg syndrome type 4A | |
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa, junctional 2B, severe | |
| | | Single nucleotide variant (missense variant +2 more) | Generalized epilepsy with febrile seizures plus, type 2 | |
| | | Duplication (nonsense) | Neurofibromatosis, type 1 | |
| | ADGRL1, ADGRL1-AS1 (Y131*) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple endocrine neoplasia, type 1 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 18B | |
| | | Copy number loss | Autosomal recessive limb-girdle muscular dystrophy type 2J | |
| | | Single nucleotide variant (missense variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Duplication (frameshift variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Duplication (nonsense +1 more) | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis | |
| | | Duplication (frameshift variant +1 more) | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 1 | |
| | | Insertion (frameshift variant) | KBG syndrome | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 1 | |
| | | Single nucleotide variant (nonsense) | Parenti-mignot neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 9 | |
| | | Duplication (frameshift variant) | Primary ciliary dyskinesia 20 | |
| | CDH23, PSAP (Y447* +2 more) | Single nucleotide variant (nonsense) | Combined PSAP deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Oroticaciduria | |