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Institute of Human Genetics (Medical University Innsbruck)

General information

Institute of Human Genetics
Medical University Innsbruck
Peter-Mayr-Str. 1
Innsbruck
Tirol
Austria - 6020
http://www.humgen.at/
Organization ID: 320418

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 163

Gene

GeneSubmissionsLast Updated
APOB1Feb 15, 2022
BRCA121Feb 11, 2015
BRCA223Feb 11, 2015
C1R14Jan 4, 2017
C1RL1Jan 4, 2017
C1S2Aug 23, 2016
CERS12May 17, 2024
CSNK2B1Feb 10, 2022
CYP21A263Jul 4, 2019
DMD1May 17, 2024
DSP1May 17, 2024
DSP-AS11May 17, 2024
FLNC1May 17, 2024
GDF12May 17, 2024
LDLR7Feb 15, 2022
LDLRAP11Feb 15, 2022
LOC10678080062Jul 4, 2019
LOC1268625714Feb 11, 2015
MSH61Jun 19, 2020
MYBPC31May 17, 2024
NF112Mar 4, 2020
PMS24Jun 19, 2020
PTPN112May 17, 2024
RYR11May 17, 2024
TCAP1May 17, 2024
TNXB1Jul 4, 2019
TRIM632May 16, 2024
TTN1May 16, 2024
UPF11May 17, 2024

Testing in GTR

Disease nameNumber of tests
3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
3-methylglutaconic aciduria type 11 test
3MC syndrome 11 test
3MC syndrome 21 test
3MC syndrome 31 test
Abetalipoproteinaemia1 test
Achondroplasia1 test
Acrocephalosyndactyly type I1 test
Acroerythrokeratoderma1 test
Acute intermittent porphyria1 test
Adrenoleukodystrophy1 test
Adult-onset foveomacular vitelliform dystrophy1 test
Alagille syndrome due to a JAG1 point mutation1 test
Alpha-1-antitrypsin deficiency1 test
Alport syndrome3 tests
Alzheimer disease1 test
Amelocerebrohypohidrotic syndrome1 test
Amyotrophic lateral sclerosis2 tests
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 61 test
Angelman syndrome2 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Aspartylglucosaminuria1 test
Ateleiotic dwarfism1 test
Autism, susceptibility to, X-linked 31 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive bestrophinopathy1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Bardet-Biedl syndrome1 test
Benign familial hematuria2 tests
Biotinidase deficiency1 test
Bone osteosarcoma1 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
CHARGE syndrome1 test
COACH syndrome 11 test
Carcinoid tumor of intestine1 test
Carcinoma of pancreas1 test
Carney-Stratakis syndrome3 tests
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carpal tunnel syndrome1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4E1 test
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 21 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Choroidal dystrophy, central areolar 21 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Citrullinemia type I1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classic homocystinuria1 test
Collagen IV-related nephropathies3 tests
Colorectal cancer, hereditary nonpolyposis, type 21 test
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 61 test
Congenital adrenal hyperplasia1 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital disorder of glycosylation1 test
Congenital glucose-galactose malabsorption1 test
Congenital hyperammonemia, type I1 test
Congenital microvillous atrophy1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory sodium diarrhea 31 test
Congenital stationary night blindness autosomal dominant 11 test
Cowden syndrome1 test
Cowden syndrome 31 test
Cowden-Like Syndrome1 test
Crouzon syndrome1 test
Cystic fibrosis1 test
D-2-hydroxyglutaric aciduria 11 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of steroid 11-beta-monooxygenase2 tests
Dejerine-Sottas disease1 test
Developmental and epileptic encephalopathy, 11 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Dominant beta-thalassemia1 test
Dystonia 91 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Encephalopathy due to GLUT1 deficiency1 test
Endometrial carcinoma3 tests
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Erythrokeratodermia variabilis et progressiva 12 tests
Fabry disease1 test
Familial Mediterranean fever1 test
Familial Mediterranean fever, autosomal dominant1 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 21 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial amyloid neuropathy1 test
Familial cold autoinflammatory syndrome 11 test
Familial hypercholesterolemia2 tests
Familial hypobetalipoproteinemia 11 test
Familial meningioma1 test
Familial partial lipodystrophy, Dunnigan type1 test
Familial porphyria cutanea tarda1 test
Familial renal glucosuria1 test
Fetal hemoglobin quantitative trait locus 11 test
Follicular thyroid carcinoma1 test
Friedreich ataxia 11 test
Fructose and galactose intolerance2 tests
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
Galactosylceramide beta-galactosidase deficiency1 test
Gastrointestinal stromal tumor2 tests
Generalized epilepsy with febrile seizures plus, type 21 test
Glucose-6-phosphate transport defect1 test
Glutaric aciduria, type 11 test
Glutaryl-CoA oxidase deficiency1 test
Glutathione synthetase deficiency without 5-oxoprolinuria1 test
Glycogen storage disease1 test
Glycogen storage disease IIIa1 test
Glycogen storage disease IIIb1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VI1 test
HSD10 mitochondrial disease1 test
Hb SS disease1 test
Heart-hand syndrome, Slovenian type1 test
Heinz body anemia1 test
Hemochromatosis type 11 test
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary antithrombin deficiency1 test
Hereditary factor VIII deficiency disease1 test
Hereditary fructosuria1 test
Hereditary motor and sensory neuropathy with optic atrophy1 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hutchinson-Gilford syndrome1 test
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, familial, 11 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type I1 test
Hyperlysinemia1 test
Hyperparathyroidism 2 with jaw tumors1 test
Hyperprolinemia type 21 test
Hyperthyroxinemia, dystransthyretinemic1 test
Hypobetalipoproteinemia1 test
Ichthyosis, hystrix-like, with hearing loss1 test
Infantile GM1 gangliosidosis1 test
Inherited blood coagulation disorder2 tests
Inherited glutathione synthetase deficiency1 test
Intellectual disability, autosomal dominant 151 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Joubert syndrome 141 test
Joubert syndrome 61 test
Juvenile retinoschisis1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Langer mesomelic dysplasia syndrome1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 81 test
Legius syndrome1 test
Leri-Weill dyschondrosteosis1 test
Loricrin keratoderma1 test
Lynch syndrome 11 test
Lynch syndrome 41 test
Lynch syndrome 51 test
MYH9-related disorder1 test
Macrocephaly-autism syndrome1 test
Macular degeneration, X-linked atrophic1 test
Malaria, susceptibility to1 test
Malignant tumor of testis1 test
Malignant tumor of urinary bladder1 test
Maple syrup urine disease2 tests
Meckel syndrome, type 31 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Melanoma, cutaneous malignant, susceptibility to, 11 test
Metachromatic leukodystrophy1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Mevalonic aciduria1 test
Microvascular complications of diabetes, susceptibility to, 71 test
Migraine, familial hemiplegic, 31 test
Mismatch repair cancer syndrome 14 tests
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome1 test
Muir-Torré syndrome2 tests
Multiple endocrine neoplasia, type 11 test
Multiple sclerosis, susceptibility to, 51 test
Mutilating keratoderma1 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Neoplasm of stomach1 test
Nephronophthisis 111 test
Nephrotic syndrome, type 21 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neuronopathy, distal hereditary motor, type 2B1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Non-ketotic hyperglycinemia2 tests
Nonpapillary renal cell carcinoma1 test
Ornithine carbamoyltransferase deficiency1 test
PGM1-congenital disorder of glycosylation1 test
Palmoplantar keratoderma-deafness syndrome1 test
Pancreatic cancer, susceptibility to, 21 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas with sensorineural hearing loss1 test
Patterned macular dystrophy 11 test
Peutz-Jeghers syndrome1 test
Phenylketonuria1 test
Pheochromocytoma3 tests
Phosphate transport defect1 test
Pigmentary retinal dystrophy2 tests
Pilomatrixoma1 test
Polyglandular autoimmune syndrome, type 11 test
Porokeratosis 3, disseminated superficial actinic type1 test
Progressive myoclonic epilepsy type 31 test
Propionic acidemia2 tests
Protoporphyria, erythropoietic, 11 test
Pyridoxine-dependent epilepsy1 test
RECLASSIFIED - MTTP POLYMORPHISM1 test
Retinitis pigmentosa 11 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 121 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 31 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 71 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma1 test
Rett syndrome1 test
Rhabdoid tumor predisposition syndrome 11 test
Robinow-Sorauf syndrome1 test
Roussy-Lévy syndrome1 test
SHOX-related short stature1 test
Saethre-Chotzen syndrome1 test
Schwannomatosis2 tests
Severe myoclonic epilepsy in infancy1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Smith-Lemli-Opitz syndrome1 test
Spongy degeneration of central nervous system1 test
Squamous cell carcinoma of the head and neck1 test
Supravalvar aortic stenosis1 test
Susceptibility to mononeuropathy of the median nerve, mild1 test
Syndromic X-linked intellectual disability Lubs type1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
TWIST1-related craniosynostosis1 test
Tetralogy of Fallot1 test
Transferrin serum level quantitative trait locus 21 test
Trimethylaminuria1 test
Tyrosinemia type I1 test
UDPglucose-4-epimerase deficiency1 test
Variegate porphyria2 tests
Vitelliform macular dystrophy1 test
Von Hippel-Lindau syndrome1 test
Wilson disease1 test
X-linked Alport syndrome1 test
X-linked cone-rod dystrophy 11 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked lissencephaly with abnormal genitalia1 test
beta Thalassemia1 test