Variants in ClinVar from 540 of 916 Rare Genetic Disorders of GenTIGS 3 beta-Hydroxysteroid dehydrogenase deficiency3-Methylglutaconic aciduria type 23-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3-hydroxy-3-methylglutaryl-CoA synthase deficiency3-methylcrotonyl-CoA carboxylase 1 deficiency3-methylglutaconic aciduria type 13M syndrome 13M syndrome 2ACCES syndromeADULT syndromeAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndromeAbetalipoproteinaemiaAchondrogenesisAchondroplasiaAcid sphingomyelinase deficiencyAcrodermatitis continua suppurativa of HallopeauAcroerythrokeratodermaAcromesomelic dysplasiaAcute febrile neutrophilic dermatosisAcute intermittent porphyriaAcyl-CoA oxidase deficiencyAdrenocortical carcinomaAdrenoleukodystrophyAdult polyglucosan body diseaseAicardi-Goutieres syndrome 1Aicardi-Goutieres syndrome 3Aicardi-Goutieres syndrome 4Alagille syndromeAlexander diseaseAlkaptonuriaAllan-Herndon-Dudley syndromeAlopecia universalis congenitaAlpha thalassemia-X-linked intellectual disability syndromeAlport syndromeAlstrom syndromeAmelogenesis imperfecta hypomaturation type 2A3AmyloidosisAmyotrophic lateral sclerosisAndersen Tawil syndromeAngelman syndromeAntley-Bixler syndrome with genital anomalies and disordered steroidogenesisApparent mineralocorticoid excessArginase deficiencyArgininosuccinate lyase deficiencyArrhythmogenic cardiomyopathy with wooly hair and keratodermaArterial calcification, generalized, of infancy, 1Arthrogryposis multiplex congenitaArthrogryposis, renal dysfunction, and cholestasis 1Arthrogryposis, renal dysfunction, and cholestasis 2Asphyxiating thoracic dystrophy 3Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAtaxia-telangiectasia syndromeAtelosteogenesis type IIAtransferrinemiaAutism spectrum disorderAutoimmune lymphoproliferative syndromeAutoinflammatory syndrome, familial, Behcet-like 1Autosomal dominant hypocalcemiaAutosomal dominant hypophosphatemic ricketsAutosomal dominant osteopetrosis 2Autosomal dominant polycystic kidney diseaseAutosomal recessive Robinow syndromeAutosomal recessive congenital ichthyosis 4BAutosomal recessive juvenile Parkinson disease 2Autosomal recessive limb-girdle muscular dystrophy type 2AAutosomal recessive multiple pterygium syndromeAutosomal recessive nonsyndromic hearing loss 12Autosomal recessive nonsyndromic hearing loss 1AAutosomal recessive nonsyndromic hearing loss 9Autosomal recessive osteopetrosis 1Autosomal recessive osteopetrosis 4Autosomal recessive polycystic kidney diseaseAutosomal recessive spinocerebellar ataxia 17Bardet-Biedl syndromeBartter disease type 2Becker muscular dystrophyBenign recurrent intrahepatic cholestasis type 2Bethlem myopathyBilateral frontoparietal polymicrogyriaBiotin-responsive basal ganglia diseaseBiotinidase deficiencyBlau syndromeBlepharophimosis - intellectual disability syndrome, MKB typeBloom syndromeBone osteosarcomaBrittle cornea syndrome 2CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAYCEDNIK syndromeCHARGE syndromeCK syndromeCamptodactyly-arthropathy-coxa vara-pericarditis syndromeCanavan diseaseCardiofaciocutaneous syndrome 3Cardiomyopathy, familial restrictive, 1Cardiospondylocarpofacial syndromeCarpenter syndromeCatecholaminergic polymorphic ventricular tachycardia 1Central core myopathyCerebellar ataxia-hypogonadism syndromeCerebral cavernous malformationCharcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease axonal type 2FCharcot-Marie-Tooth disease axonal type 2SCharcot-Marie-Tooth disease type 4CCharcot-Marie-Tooth disease type 4DCharlevoix-Saguenay spastic ataxiaCholestanol storage diseaseChondrosarcomaChorea-acanthocytosisCitrullinemia type ICockayne syndromeCoffin-Lowry syndromeCoffin-Siris syndrome 1Cold-induced sweating syndrome 1Combined immunodeficiency due to DOCK8 deficiencyCongenital adrenal hypoplasia, X-linkedCongenital afibrinogenemiaCongenital amegakaryocytic thrombocytopeniaCongenital anomalies of kidney and urinary tract 1Congenital contractural arachnodactylyCongenital diaphragmatic herniaCongenital diarrhea 5 with tufting enteropathyCongenital disorder of glycosylationCongenital factor V deficiencyCongenital glaucomaCongenital hereditary endothelial dystrophy of corneaCongenital insensitivity to pain-hypohidrosis syndromeCongenital lipoid adrenal hyperplasia due to STAR deficencyCongenital myasthenic syndrome 10Congenital myopathyCongenital myopathy with fiber type disproportionCongenital myotonia, autosomal dominant formCongenital secretory diarrhea, chloride typeCongenital sensory neuropathy with selective loss of small myelinated fibersCongenital stationary night blindnessCornelia de Lange syndrome 1Cowden SyndromeCreatine transporter deficiencyCrigler-Najjar syndrome type 1Cutaneous porphyriaCutis laxaCystinosisCystinuriaDNA ligase IV deficiencyDeficiency of acetyl-CoA acetyltransferaseDeficiency of aromatic-L-amino-acid decarboxylaseDeficiency of butyrylcholinesteraseDeficiency of cytochrome-b5 reductaseDeficiency of ribose-5-phosphate isomeraseDeficiency of steroid 11-beta-monooxygenaseDeficiency of steroid 17-alpha-monooxygenaseDejerine-Sottas diseaseDesbuquois dysplasia 1Developmental and epileptic encephalopathy, 42Diabetes mellitus, permanent neonatal 4Diamond-Blackfan anemiaDiastrophic dysplasiaDistal arthrogryposis type 5DDubin-Johnson syndromeDuchenne muscular dystrophyDyggve-Melchior-Clausen syndromeDyskeratosis congenitaEAST syndromeEctodermal dysplasiaEhlers-Danlos syndrome, musculocontractural typeEllis-van Creveld syndromeEmery-Dreifuss muscular dystrophyEncephalocraniocutaneous lipomatosisEpidermolysis bullosa pruriginosaEpidermolysis bullosa simplex 5B, with muscular dystrophyEpidermolysis bullosa simplex 5C, with pyloric atresiaEpidermolysis bullosa simplex with nail dystrophyEpidermolytic ichthyosisEpisodic ataxiaEthylmalonic encephalopathyExudative vitreoretinopathy 1FRAXEFabry diseaseFamilial X-linked hypophosphatemic vitamin D refractory ricketsFamilial acute necrotizing encephalopathyFamilial adenomatous polyposisFamilial cancer of breastFamilial hemophagocytic lymphohistiocytosis 3Familial hypokalemia-hypomagnesemiaFamilial juvenile hyperuricemic nephropathy type 1Familial mediterranean feverFamilial medullary thyroid carcinomaFanconi anemiaFanconi-Bickel syndromeFarber lipogranulomatosisFetal akinesia deformation sequence 1Fetal akinesia deformation sequence 3Filippi syndromeFinnish congenital nephrotic syndromeFloating-Harbor syndromeFocal dermal hypoplasiaFraser syndromeFrasier syndromeFriedreich ataxiaFrontotemporal dementiaFructose-biphosphatase deficiencyGM1 gangliosidosis type 2GNE myopathyGNPTG-mucolipidosisGTP cyclohydrolase I deficiency with hyperphenylalaninemiaGabriele de Vries syndromeGalactosemiaGaucher diseaseGaze palsy, familial horizontal, with progressive scoliosis 1Ghosal hematodiaphyseal dysplasiaGlanzmann thrombastheniaGlucocorticoid deficiency with achalasiaGlucose-6-phosphate transport defectGlutaric aciduria, type 1Glycogen storage disease IXbGlycogen storage disease due to glucose-6-phosphatase deficiency type IAGlycogen storage disease type IIIGlycogen storage disease, type IIGlycogen storage disease, type IVGlycogen storage disease, type VGnathodiaphyseal dysplasiaGorlin syndromeGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3Greig cephalopolysyndactyly syndromeGriscelli syndrome type 1H syndromeHarel-Yoon syndromeHb SS diseaseHematuria, benign familial, 1Hemochromatosis type 2AHemolytic anemia due to adenylate kinase deficiencyHereditary angioedema type 1Hereditary antithrombin deficiencyHereditary breast ovarian cancer syndromeHereditary diffuse leukoencephalopathy with spheroidsHereditary factor VIII deficiency diseaseHereditary fructosuriaHereditary pancreatitisHereditary spastic paraplegiaHereditary spherocytosisHermansky-Pudlak syndrome 1Hermansky-Pudlak syndrome 10Hermansky-Pudlak syndrome 4Heterotaxy, visceral, 6, autosomalHeterotopia, periventricular, X-linked dominantHirschsprung diseaseHistiocytic medullary reticulosisHolt-Oram syndromeHomocystinuria due to methylene tetrahydrofolate reductase deficiencyHurler syndromeHutchinson-Gilford syndromeHyaline fibromatosis syndromeHydatidiform mole, recurrent, 1Hyper-IgM syndrome type 1Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiencyHyperekplexia 1Hyperekplexia 3Hyperimmunoglobulin D with periodic feverHyperinsulinemic hypoglycemia, familial, 1Hyperprolinemia type 2Hypertrophic cardiomyopathy 14Hypertrophic osteoarthropathyHypochondroplasiaHypohidrotic X-linked ectodermal dysplasiaHypokalemic periodic paralysis, type 1Hypomyelinating leukodystrophy 11Hypoparathyroidism, deafness, renal disease syndromeHypophosphatasiaIchthyosis linearis circumflexaIdiopathic pulmonary fibrosisInfantile GM1 gangliosidosisInfantile cortical hyperostosisInfantile neuroaxonal dystrophyIntestinal hypomagnesemia 1Isovaleryl-CoA dehydrogenase deficiencyJervell and Lange-Nielsen syndromeJeune thoracic dystrophyJohanson-Blizzard syndromeJoubert syndromeJunctional epidermolysis bullosa, non-Herlitz typeKBG syndromeKabuki syndromeKaryomegalic interstitial nephritisKennedy diseaseKindler syndromeKleefstra syndromeKnobloch syndromeKoolen-de Vries syndromeKrabbe diseaseKufor-Rakeb syndromeL-2-hydroxyglutaric aciduriaLAMA2-related muscular dystrophyLacrimoauriculodentodigital syndromeLafora diseaseLamellar ichthyosisLaron-type isolated somatotropin defectLeber congenital amaurosisLeft ventricular noncompaction cardiomyopathyLeigh syndromeLesch-Nyhan syndromeLethal congenital contracture syndrome 9Lethal multiple pterygium syndromeLethal osteosclerotic bone dysplasiaLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeLeukoencephalopathy with vanishing white matter 1Li-Fraumeni syndromeLimb-girdle muscular dystrophyLoeys-Dietz syndrome 2Long QT syndromeLowe syndromeLynch syndromeMYH9-related disorderMacular corneal dystrophyMaffucci syndromeMajeed syndromeMaple syrup urine diseaseMarfan syndromeMaturity-onset diabetes of the young type 4Megalencephalic leukoencephalopathy with subcortical cystsMerosin deficient congenital muscular dystrophyMetachondromatosisMetachromatic leukodystrophyMetaphyseal chondrodysplasia, Jansen typeMetaphyseal chondrodysplasia, Schmid typeMetatropic dysplasiaMethylmalonic acidemiaMethylmalonic aciduria, cblB typeMevalonic aciduriaMicrocephaly 14, primary, autosomal recessiveMicrocephaly 16, primary, autosomal recessiveMicrocephaly 17, primary, autosomal recessiveMicrocephaly 5, primary, autosomal recessiveMicrocephaly with or without chorioretinopathy, lymphedema, or intellectual disabilityMicrocephaly, normal intelligence and immunodeficiencyMitochondrial DNA depletion syndrome 1Mitochondrial DNA depletion syndrome 13Miyoshi muscular dystrophyMonomelic amyotrophyMosaic variegated aneuploidy syndrome 2Mucolipidosis type IIMucolipidosis type IVMucopolysaccharidosis type 1Mucopolysaccharidosis type 6Mucopolysaccharidosis type 7Mucopolysaccharidosis, MPS-I-SMucopolysaccharidosis, MPS-III-AMucopolysaccharidosis, MPS-IV-AMuenke syndromeMulibrey nanism syndromeMulticentric carpo-tarsal osteolysis with or without nephropathyMulticentric osteolysis nodulosis arthropathyMultiminicore myopathyMultiple acyl-CoA dehydrogenase deficiencyMultiple congenital exostosisMultiple endocrine neoplasia, type 1Multiple mitochondrial dysfunctions syndrome 5Multiple sclerosisMultiple sulfatase deficiencyMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1Nail-patella syndromeNeonatal diabetes mellitusNeonatal ichthyosis-sclerosing cholangitis syndromeNeonatal severe primary hyperparathyroidismNephronophthisisNetherton syndromeNeuroblastomaNeurodegeneration with brain iron accumulationNeurodevelopmental disorder with microcephaly, epilepsy, and brain atrophyNeuronal ceroid lipofuscinosisNeutral 1 amino acid transport defectNiemann-Pick disease, type BNiemann-Pick disease, type C1Niemann-Pick disease, type C2Noonan syndromeNut midline carcinomaOcular cystinosisOculopharyngeal muscular dystrophyOligodendrogliomaOpsismodysplasiaOrnithine carbamoyltransferase deficiencyOrofaciodigital syndrome IOsteogenesis imperfectaOsteoglophonic dysplasiaOsteopathia striata with cranial sclerosisOsteoporosis with pseudogliomaOsteosclerotic metaphyseal dysplasiaPachyonychia congenitaPapillary renal cell carcinomaParkinsonian-pyramidal syndromePartial Androgen Insensitivity SyndromePartial hypoxanthine-guanine phosphoribosyltransferase deficiencyPeroxisome biogenesis disorderPerrault syndrome 1Peutz-Jeghers syndromePfeiffer syndromePhelan-McDermid syndromePhenylketonuriaPiebaldismPierson syndromePigmentary pallidal degenerationPilomatrixomaPolyglandular autoimmune syndrome, type 1Pontocerebellar hypoplasia type 1Pontocerebellar hypoplasia type 9Primary ciliary dyskinesiaPrimary hyperoxaluria, type IPrimary hypomagnesemiaProgressive Pseudorheumatoid DysplasiaProgressive external ophthalmoplegiaProgressive familial intrahepatic cholestasis type 1Progressive familial intrahepatic cholestasis type 2Progressive myoclonic epilepsyProgressive myositis ossificansProgressive sclerosing poliodystrophyProgressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeProlidase deficiencyPropionic acidemiaProtein-losing enteropathyProximal myopathy with extrapyramidal signsPseudoachondroplastic spondyloepiphyseal dysplasia syndromePseudohypoaldosteronism type 2Pseudoxanthoma elasticumPulmonary arterial hypertensionPurine-nucleoside phosphorylase deficiencyPyknodysostosisPyridoxine-dependent epilepsyPyruvate carboxylase deficiencyPyruvate dehydrogenase E1-alpha deficiencyQualitative or quantitative defects of dysferlinRadial aplasia-thrombocytopenia syndromeRecessive dystrophic epidermolysis bullosaRenal carnitine transport defectRenal coloboma syndromeRenal tubular acidosis with progressive nerve deafnessRenal tubular dysgenesisRenpenning syndromeRestrictive cardiomyopathyRetinitis pigmentosaRett syndromeRhizomelic chondrodysplasia punctataRoberts-SC phocomelia syndromeRubinstein-Taybi syndrome due to CREBBP mutationsSalla diseaseSandhoff diseaseSchinzel phocomelia syndromeSchuurs-Hoeijmakers syndromeSchwannomatosisSchwartz-Jampel syndromeSenior-Loken syndromeSensory ataxic neuropathy, dysarthria, and ophthalmoparesisSevere X-linked myotubular myopathySevere combined immunodeficiency diseaseSevere combined immunodeficiency due to DCLRE1C deficiencySevere early-childhood-onset retinal dystrophySevere myoclonic epilepsy in infancyShort-rib thoracic dysplasia 6 with or without polydactylyShprintzen-Goldberg syndromeShukla-Vernon syndromeSialidosis type 2Simpson-Golabi-Behmel syndrome type 1Sjögren-Larsson syndromeSmith-Lemli-Opitz syndromeSmith-McCort dysplasiaSneddon syndromeSotos syndromeSpastic ataxiaSphingolipid activator protein 1 deficiencySpinal muscular atrophy 1Spinocerebellar ataxia type 1Spinocerebellar ataxia type 2Spinocerebellar ataxia type 40Spinocerebellar ataxia type 5Spinocerebellar ataxia type 6Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2Split hand-foot malformation 4Split hand-foot malformation 6Sponastrime dysplasiaSpondylocarpotarsal synostosis syndromeSpondylocostal dysostosisSpondyloepiphyseal dysplasia with congenital joint dislocationsSpondylometaphyseal dysplasia - Sutcliffe typeStargardt diseaseSteel syndromeStickler syndromeStriatonigral degeneration, childhood-onsetSuccinate-semialdehyde dehydrogenase deficiencySudden infant death syndromeSulfite oxidase deficiencySyndromic microphthalmia type 5Systemic lupus erythematosusT-B+ severe combined immunodeficiency due to JAK3 deficiencyTNF receptor-associated periodic fever syndromeTarsal-carpal coalition syndromeTay-Sachs diseaseTemtamy syndromeTetralogy of FallotThanatophoric dysplasiaThrombophilia due to thrombin defectThyroid dyshormonogenesis 6Transcobalamin II deficiencyTreacher Collins syndrome 1Trichorhinophalangeal dysplasia type ITrichorhinophalangeal syndromeTrichothiodystrophyTriglyceride storage disease with ichthyosisTrigonocephaly-short stature-developmental delay syndromeTuberous SclerosisTyrosinase-positive oculocutaneous albinismTyrosinemia type IIUpshaw-Schulman syndromeUsher syndromeVariegate porphyriaVasculitisVery long chain acyl-CoA dehydrogenase deficiencyVici syndromeVitamin D-dependent rickets type II with alopeciaVitamin D-dependent rickets, type 1AVon Hippel-Lindau syndromeWaardenburg syndromeWalker-Warburg congenital muscular dystrophyWarburg micro syndromeWiedemann-Steiner syndromeWilson diseaseWiskott-Aldrich syndromeWolfram syndromeWolman diseaseX-linked agammaglobulinemiaX-linked agammaglobulinemia with growth hormone deficiencyX-linked hydrocephalus syndromeX-linked intellectual disability, van Esch typeX-linked lymphoproliferative disease due to SH2D1A deficiencyXanthinuria type IIZTTK syndromeZellweger spectrum disordersZimmermann-Laband syndromealpha Thalassemiabeta Thalassemiavon Willebrand diseasexeroderma pigmentosum