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Institute of Human Genetics (Cologne University)

General information

Institute of Human Genetics
Cologne University
Kerpener Str. 34
Cologne
Nordrhein-Westfalen
Germany - 50931
http://humangenetik.uk-koeln.de/
Organization ID: 243629

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 290

Gene

GeneSubmissionsLast Updated
AARS12May 11, 2018
ACTA11May 11, 2018
ACTN41Jun 6, 2017
ADAR1Sep 23, 2019
ADNP1Nov 21, 2019
ADPRS1Oct 2, 2020
AGPAT21Jul 16, 2019
AGTPBP12Oct 2, 2020
ANLN1Sep 4, 2020
AQP21Jun 8, 2017
ARHGEF102Nov 28, 2018
ARHGEF91Dec 29, 2020
ARID1B4Jul 16, 2019
ARSA1Oct 2, 2020
ATP7A1May 11, 2018
AVPR21Oct 24, 2016
BBS101Aug 19, 2019
BCL11A1Mar 30, 2020
BICD21May 11, 2018
CAPN31Oct 18, 2017
CASR4Jan 6, 2020
CFH2Aug 28, 2020
CFTR2Oct 23, 2020
CFTR-AS11Aug 30, 2018
CHD1L1Apr 11, 2019
CHD41Sep 4, 2020
CHD73Dec 29, 2020
CHRNG1Jan 19, 2018
CLCN11May 11, 2018
COL11A21Sep 28, 2020
COL12A12May 11, 2018
COL1A17Jun 9, 2020
COL1A26Apr 2, 2020
COL3A12Sep 28, 2017
COL4A34Dec 30, 2020
COL4A45Feb 14, 2020
COL4A56Jan 22, 2020
COL5A21Apr 2, 2020
COL6A11May 11, 2018
COL6A21May 11, 2018
COL6A31May 11, 2018
CRTAP1Aug 2, 2017
CTNS3Mar 24, 2020
CYP24A11Nov 14, 2019
DHTKD12May 11, 2018
DNAJB111Nov 27, 2020
DNM1L1Oct 2, 2020
DNMT3A1May 22, 2019
ECEL12Dec 4, 2018
ECHS11Oct 2, 2020
EFTUD21Feb 14, 2020
EGR21Oct 2, 2020
ERCC61Dec 11, 2018
ETFDH1May 11, 2018
EXOSC31Oct 2, 2020
EYA11Feb 14, 2020
EZH21Jul 16, 2019
FAT11Sep 26, 2019
FBLN51May 11, 2018
FBN18Apr 2, 2020
FBXO381May 11, 2018
FDXR1Oct 2, 2020
FH1Mar 9, 2020
FKBP101May 21, 2019
FKRP1Dec 29, 2017
FLCN1Jul 28, 2017
FUS2May 11, 2018
FXN1May 11, 2018
GAN1May 11, 2018
GARS12May 11, 2018
GBF14Aug 11, 2020
GDAP13May 11, 2018
GNA111Dec 5, 2019
GNPTAB1Dec 6, 2018
GRHPR1Dec 19, 2018
HINT11May 11, 2018
HNF1B2Jul 15, 2019
HNF4A1Sep 4, 2017
HSPB11May 11, 2018
HSPD11May 22, 2019
IFIH11Sep 23, 2019
IGHMBP24May 11, 2018
INPPL11Nov 28, 2018
JAG11Nov 27, 2020
KCNH11Sep 4, 2019
KIF1B1May 11, 2018
KIF5C2Jul 30, 2019
KMT2D3May 11, 2018
KMT2E1Dec 19, 2018
LAMB21Jun 30, 2017
LGI42May 11, 2018
LIFR2Feb 1, 2021
LMX1B4Dec 5, 2019
LOC1019273181Jun 8, 2017
LOC1079822341Jun 8, 2017
LRP22Apr 17, 2019
LRP51Mar 21, 2019
LZTR11Aug 9, 2018
MACF16Oct 2, 2020
MAGEL21Jan 11, 2019
MAP2K11Mar 30, 2020
MARS11May 11, 2018
MBD51Aug 28, 2020
MEN11Jun 3, 2020
MET1Jan 17, 2018
MFF-DT4Dec 30, 2020
MFN24May 11, 2018
MME1May 11, 2018
MORC21May 11, 2018
MPV171Oct 2, 2020
MPZ2Jul 6, 2020
MTMR21May 11, 2018
MTRFR1Oct 2, 2020
MYLK1Apr 5, 2017
NDUFS61Oct 2, 2020
NEXMIF1Nov 2, 2020
NF11Jan 6, 2020
NFKB11Oct 19, 2020
NIPBL1Jul 16, 2019
NOTCH21Dec 19, 2018
NPHP31Jul 14, 2017
NPHP3-ACAD111Jul 14, 2017
NPR21Nov 15, 2019
OCA21Nov 6, 2020
P3H11Jul 4, 2019
PDXK1Oct 2, 2020
PIEZO22May 11, 2018
PIGN1Nov 5, 2019
PKD115Aug 28, 2020
PKD24Apr 1, 2019
PKHD12Mar 9, 2020
PLEKHG53May 11, 2018
PLOD21Jun 11, 2018
PLS31Aug 7, 2017
POLG2Oct 2, 2020
PRX1May 11, 2018
SACS1May 11, 2018
SDHD1Nov 21, 2019
SEPSECS2Oct 2, 2020
SERPINF11Mar 21, 2019
SETX4Oct 2, 2020
SH3TC21Jul 24, 2019
SLC12A32Sep 6, 2017
SLC12A61May 11, 2018
SLC2A21May 31, 2017
SLC3A11Aug 10, 2017
SLC4A41Jun 11, 2018
SLC52A22May 11, 2018
SLC5A71May 11, 2018
SMAD32Mar 9, 2020
SMARCA21Oct 24, 2016
SMARCAL12Jan 7, 2019
SMN11Apr 2, 2020
SOD12May 11, 2018
SON1May 22, 2019
SPG111Oct 2, 2020
SPG72May 11, 2018
SRCAP1Jan 30, 2019
SYNE11May 11, 2018
TAPBPL1May 11, 2018
TGFB21May 29, 2018
TGFBR11Dec 5, 2019
TIGD11Jan 19, 2018
TNNI31May 4, 2018
TRPV42Nov 28, 2018
TSC23Oct 26, 2017
TTN2Oct 2, 2020
TTN-AS12Oct 2, 2020
TUBA1A1Nov 30, 2018
TUBB31Jan 30, 2019
UMOD3Jun 3, 2020
VAMP11May 11, 2018
VCP1May 11, 2018
VHL1Dec 13, 2017
VPS13D2Oct 2, 2020
WNK41Feb 14, 2018
WT11Jun 8, 2017
ZFYVE262May 11, 2018
ZNF4691May 29, 2018

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria1May 11, 2018
Abnormality of the urinary system1Apr 11, 2019
Acromesomelic dysplasia, Maroteaux type1Nov 15, 2019
Adult proximal spinal muscular atrophy, autosomal dominant1May 11, 2018
Aicardi-Goutieres syndrome 61Sep 23, 2019
Aicardi-Goutieres syndrome 71Sep 23, 2019
Alagille syndrome 11Nov 27, 2020
Alagille syndrome 21Dec 19, 2018
Alport syndrome 1, X-linked recessive6Jan 22, 2020
Alport syndrome 3, autosomal dominant5Feb 14, 2020
Alport syndrome, autosomal recessive4Dec 30, 2020
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1May 11, 2018
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1May 11, 2018
Amyotrophic lateral sclerosis type 12May 11, 2018
Amyotrophic lateral sclerosis type 41Oct 2, 2020
Aortic aneurysm, familial thoracic 71Apr 5, 2017
Arthrogryposis multiplex congenita, neurogenic, with myelin defect2May 11, 2018
Arthrogryposis, distal, with impaired proprioception and touch1May 11, 2018
Atypical hemolytic-uremic syndrome 12Aug 28, 2020
Autosomal dominant intermediate Charcot-Marie-Tooth disease1May 11, 2018
Autosomal recessive axonal hereditary motor and sensory neuropathy2May 11, 2018
Autosomal recessive axonal neuropathy with neuromyotonia1May 11, 2018
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Oct 2, 2020
Autosomal recessive distal hereditary motor neuropathy1May 11, 2018
Autosomal recessive polycystic kidney disease2Mar 9, 2020
Bardet-Biedl syndrome 101Aug 19, 2019
Bethlem myopathy 12May 11, 2018
Bone mineral density quantitative trait locus 181Aug 7, 2017
Branchiootorenal Syndrome 11Feb 14, 2020
Brittle cornea syndrome 11May 29, 2018
Brown-Vialetto-Van Laere syndrome 22May 11, 2018
Bruck syndrome 21Jun 11, 2018
CHARGE association3Dec 29, 2020
Cardiofaciocutaneous syndrome 31Mar 30, 2020
Charcot-Marie-Tooth disease axonal type 2C1Nov 28, 2018
Charcot-Marie-Tooth disease dominant intermediate d2Jul 6, 2020
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B3May 11, 2018
Charcot-Marie-Tooth disease, axonal, type 2Q1Dec 12, 2017
Charcot-Marie-Tooth disease, axonal, type 2S2May 11, 2018
Charcot-Marie-Tooth disease, axonal, type 2z1May 11, 2018
Charcot-Marie-Tooth disease, demyelinating, type 4F1May 11, 2018
Charcot-Marie-Tooth disease, recessive intermediate A3May 11, 2018
Charcot-Marie-Tooth disease, type 21May 11, 2018
Charcot-Marie-Tooth disease, type 2A2A1May 11, 2018
Charcot-Marie-Tooth disease, type 2N1May 11, 2018
Charcot-Marie-Tooth disease, type 4B11May 11, 2018
Charcot-Marie-Tooth disease, type 4C1Jul 24, 2019
Charcot-marie-tooth disease, axonal, type 2ee1Oct 2, 2020
Charlevoix-Saguenay spastic ataxia1May 11, 2018
Cockayne syndrome B1Dec 11, 2018
Coffin-Siris syndrome 14Jul 16, 2019
Congenital generalized lipodystrophy type 11Jul 16, 2019
Congenital hypomyelinating neuropathy 1, autosomal recessive1Oct 2, 2020
Congenital myasthenic syndrome1May 11, 2018
Cornelia de Lange syndrome 11Jul 16, 2019
Cortical dysplasia, complex, with other brain malformations 22Jul 30, 2019
Cystic fibrosis2Oct 23, 2020
Cystinuria1Aug 10, 2017
Distal arthrogryposis type 5D2Dec 4, 2018
Distal hereditary motor neuronopathy type 2B1May 11, 2018
Distal hereditary motor neuronopathy type 51May 11, 2018
Distal spinal muscular atrophy9May 11, 2018
Distal spinal muscular atrophy, X-linked 31May 11, 2018
Distal spinal muscular atrophy, autosomal recessive 41May 11, 2018
Distal spinal muscular atrophy, congenital nonprogressive1May 11, 2018
Donnai-Barrow syndrome2Apr 17, 2019
Early infantile epileptic encephalopathy 81Dec 29, 2020
Ehlers-Danlos syndrome classic type 21Apr 2, 2020
Ehlers-Danlos syndrome, type 41Aug 7, 2017
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Oct 2, 2020
Epileptic encephalopathy, early infantile, 291May 11, 2018
Familial hypokalemia-hypomagnesemia2Sep 6, 2017
Familial juvenile gout3Jun 3, 2020
Familial restrictive cardiomyopathy 11May 4, 2018
Fanconi-Bickel syndrome1May 31, 2017
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1Jan 30, 2019
Finnish congenital nephrotic syndrome1Sep 26, 2019
Floating-Harbor syndrome1Jan 30, 2019
Focal segmental glomerulosclerosis 11Jun 6, 2017
Focal segmental glomerulosclerosis 81Sep 4, 2020
Friedreich ataxia 11May 11, 2018
Giant axonal neuropathy 11May 11, 2018
Helsmoortel-Van der Aa Syndrome1Nov 21, 2019
Hereditary leiomyomatosis and renal cell cancer1Mar 9, 2020
Hereditary spastic paraplegia 131May 22, 2019
Hereditary spastic paraplegia 152May 11, 2018
Hypercalcemia, infantile, 11Nov 14, 2019
Hyperuricemic nephropathy, familial juvenile, 32Jul 15, 2019
Hypocalciuric hypercalcemia, familial, type 14Jan 6, 2020
Hypocalciuric hypercalcemia, familial, type II1Dec 5, 2019
Immunodeficiency, common variable, 121Oct 19, 2020
Intellectual developmental disorder with persistence of fetal hemoglobin1Mar 30, 2020
Intellectual disability2Dec 19, 2018
Kabuki syndrome 13May 11, 2018
Kugelberg-Welander disease1Apr 2, 2020
Lethal multiple pterygium syndrome1Jan 19, 2018
Limb-girdle muscular dystrophy, type 2A1Oct 18, 2017
Limb-girdle muscular dystrophy, type 2J2Oct 2, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Dec 29, 2017
Lissencephaly 31Nov 30, 2018
Loeys-Dietz syndrome 11Dec 5, 2019
Loeys-Dietz syndrome 32Mar 9, 2020
Loeys-Dietz syndrome 41May 29, 2018
Mandibulofacial dysostosis-microcephaly syndrome1Feb 14, 2020
Marfan syndrome8Apr 2, 2020
Maturity-onset diabetes of the young, type 11Sep 4, 2017
Mental retardation, X-linked 981Nov 2, 2020
Mental retardation, autosomal dominant 11Aug 28, 2020
Metachromatic leukodystrophy1Oct 2, 2020
Mitochondrial complex 1 deficiency, nuclear type 91Oct 2, 2020
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1Oct 2, 2020
Motor axonal neuropathy4Aug 11, 2020
Motor neuron disease1May 11, 2018
Mucolipidosis type II1Dec 6, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 11Nov 5, 2019
Multiple endocrine neoplasia, type 11Jun 3, 2020
Multiple fibrofolliculomas1Jul 28, 2017
Myopathy, scapulohumeroperoneal1May 11, 2018
Nail-patella syndrome4Dec 5, 2019
Nephrogenic diabetes insipidus, X-linked1Oct 24, 2016
Nephrogenic diabetes insipidus, autosomal1Jun 8, 2017
Nephronophthisis 31Jul 14, 2017
Nephropathic cystinosis2Dec 19, 2018
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Oct 2, 2020
Neurodegeneration, childhood-onset, with cerebellar atrophy2Oct 2, 2020
Neurofibromatosis, type 11Jan 6, 2020
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy1Oct 2, 2020
Nicolaides-Baraitser syndrome1Oct 24, 2016
Noonan syndrome 101Aug 9, 2018
Ocular cystinosis1Mar 24, 2020
Opsismodysplasia1Nov 28, 2018
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome1Oct 2, 2020
Osteogenesis imperfecta1Oct 24, 2017
Osteogenesis imperfecta type 71Aug 2, 2017
Osteogenesis imperfecta type 81Jul 4, 2019
Osteogenesis imperfecta type I9Jun 9, 2020
Osteogenesis imperfecta with normal sclerae, dominant form1Aug 2, 2017
Osteogenesis imperfecta, recessive perinatal lethal2Feb 14, 2020
Osteogenesis imperfecta, type VI1Mar 21, 2019
Osteogenesis imperfecta, type XI1May 21, 2019
Otospondylomegaepiphyseal dysplasia, autosomal recessive1Sep 28, 2020
Pheochromocytoma1Nov 21, 2019
Pierson syndrome1Jun 30, 2017
Polycystic kidney disease 24Apr 1, 2019
Polycystic kidney disease 6 with or without polycystic liver disease1Nov 27, 2020
Polycystic kidney disease, adult type15Aug 28, 2020
Pontocerebellar hypoplasia type 2D2Oct 2, 2020
Pontocerebellar hypoplasia, type 1b1Oct 2, 2020
Postmenopausal osteoporosis1Mar 21, 2019
Primary hyperoxaluria, type II1Dec 19, 2018
Proximal spinal muscular atrophy3May 11, 2018
Pseudohypoaldosteronism type 2B1Feb 14, 2018
Renal cell carcinoma, papillary, 11Jan 17, 2018
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1Jun 11, 2018
Schaaf-Yang syndrome1Jan 11, 2019
Schimke immuno-osseous dysplasia2Jan 7, 2019
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome2Oct 2, 2020
Sifrim-Hitz-Weiss syndrome1Sep 4, 2020
Slowed nerve conduction velocity, autosomal dominant2Nov 28, 2018
Spastic paraplegia 11, autosomal recessive1Oct 2, 2020
Spastic paraplegia 55, autosomal recessive1Oct 2, 2020
Spectraplakinopathy type I6Oct 2, 2020
Spinal muscular atrophy, distal, autosomal recessive, 11May 11, 2018
Spinal muscular atrophy, facioscapulohumeral type1May 11, 2018
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1May 11, 2018
Spinocerebellar ataxia, autosomal recessive 81May 11, 2018
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21May 11, 2018
Stüve-Wiedemann syndrome2Feb 1, 2021
Tatton-Brown-rahman syndrome1May 22, 2019
Temple-Baraitser syndrome1Sep 4, 2019
Tuberous sclerosis 23Oct 26, 2017
Tyrosinase-positive oculocutaneous albinism1Nov 6, 2020
Ullrich congenital muscular dystrophy 21May 11, 2018
Von Hippel-Lindau syndrome1Dec 13, 2017
Weaver syndrome1Jul 16, 2019
Wilms tumor 11Jun 8, 2017
ZTTK syndrome1May 22, 2019
autosomal recessive PIEZO2 associated disease1Oct 24, 2016
not specified1Sep 28, 2017

Testing in GTR

Disease nameNumber of tests
AIP-Related Familial Isolated Pituitary Adenomas1 test
AKT2-related familial partial lipodystrophy1 test
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED1 test
Achondroplasia1 test
Acquired partial lipodystrophy1 test
Adams-Oliver syndrome1 test
Ahus, susceptibility to, 71 test
Aicardi Goutieres syndrome1 test
Aldosterone-producing adrenal cortex adenoma1 test
Alport syndrome2 tests
Alport syndrome 1, X-linked recessive1 test
Alport syndrome 3, autosomal dominant1 test
Alport syndrome, autosomal recessive1 test
Aminoglycoside-induced deafness1 test
Amyloid Cardiomyopathy, Transthyretin-related1 test
Amyloidogenic transthyretin amyloidosis1 test
Amyotrophic lateral sclerosis2 tests
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1 test
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 21 test
Amyotrophic lateral sclerosis type 81 test
Aniridia 11 test
Antenatal Bartter Syndrome1 test
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Atypical Rett syndrome1 test
Atypical hemolytic uremic syndrome2 tests
Atypical hemolytic-uremic syndrome 11 test
Atypical hemolytic-uremic syndrome 21 test
Atypical hemolytic-uremic syndrome 31 test
Atypical hemolytic-uremic syndrome 41 test
Atypical hemolytic-uremic syndrome 51 test
Atypical hemolytic-uremic syndrome 61 test
Autoinflammation, panniculitis, and dermatosis syndrome1 test
Autosomal dominant hypocalcemia1 test
Autosomal dominant medullary cystic kidney disease with hyperuricemia1 test
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia2 tests
Autosomal dominant nocturnal frontal lobe epilepsy1 test
Autosomal dominant nonsyndromic deafness 171 test
Autosomal dominant polycystic kidney disease2 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11 test
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 21 test
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 31 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal recessive multiple pterygium syndrome2 tests
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive pseudohypoaldosteronism type 11 test
Bardet-Biedl syndrome1 test
Bardet-Biedl syndrome 101 test
Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic1 test
Bartter disease type 4a1 test
Bartter syndrome2 tests
Bartter syndrome type 31 test
Bartter syndrome, type 1, antenatal1 test
Bartter syndrome, type 2, antenatal1 test
Bartter syndrome, type 3, with hypocalciuria1 test
Bartter syndrome, type 4b1 test
Bartter syndrome, type 5, antenatal, transient1 test
Becker muscular dystrophy1 test
Benign familial hematuria1 test
Berardinelli-Seip congenital lipodystrophy1 test
Bethlem myopathy 12 tests
Bone mineral density quantitative trait locus 181 test
Brittle cornea syndrome 11 test
Bruck syndrome2 tests
Bruck syndrome 11 test
Bruck syndrome 21 test
CHRNA1-Related Congenital Myasthenic Syndrome1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiomyopathy1 test
Charcot-Marie-Tooth disease1 test
Classic homocystinuria1 test
Cobalamin C disease1 test
Coenzyme Q10 deficiency, primary 12 tests
Coenzyme Q10 deficiency, primary, 32 tests
Coenzyme Q10 deficiency, primary, 62 tests
Coffin Siris/Intellectual Disability1 test
Coffin-Siris syndrome2 tests
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 71 test
Cole-Carpenter syndrome1 test
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Collagen IV-related nephropathies1 test
Collagen VI-related myopathy1 test
Coloboma of optic disc1 test
Combined molybdoflavoprotein enzyme deficiency1 test
Combined oxidative phosphorylation deficiency 111 test
Congenital absence of salivary gland1 test
Congenital anomalies of kidney and urinary tract1 test
Congenital disorder of glycosylation1 test
Congenital fibrosis of extraocular muscles1 test
Congenital generalized lipodystrophy type 21 test
Congenital intestinal transport defect1 test
Congenital muscular dystrophy2 tests
Congenital muscular dystrophy, LMNA-related1 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A61 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31 test
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B51 test
Congenital myasthenic syndrome2 tests
Congenital myasthenic syndrome 4C1 test
Congenital myopathy1 test
Congenital myopathy with fiber type disproportion1 test
Contractures, pterygia, and variable skeletal fusions syndrome 1A1 test
Cornelia de Lange syndrome 11 test
Cortical dysplasia, complex, with other brain malformations1 test
Craniolenticulosutural dysplasia1 test
Craniosynostosis 11 test
Craniosynostosis 41 test
Craniosynostosis and dental anomalies1 test
Cystic fibrosis2 tests
Cystinosis1 test
Cystinosis, atypical nephropathic1 test
Cystinuria1 test
Cystinuria type A1 test
Cystinuria type B1 test
Cystinuria, type a/b1 test
De Lange syndrome3 tests
Deafness, autosomal recessive 1A2 tests
Deafness, nonsyndromic sensorineural, mitochondrial1 test
Dent disease type 11 test
Dentinogenesis imperfecta1 test
Diabetes insipidus, neurohypophyseal type1 test
Distal arthrogryposis2 tests
Distal arthrogryposis type 1A1 test
Distal arthrogryposis type 1B1 test
Distal arthrogryposis type 2B1 test
Distal myopathy1 test
Distal myopathy, Tateyama type1 test
Distal renal tubular acidosis1 test
Distal spinal muscular atrophy, congenital nonprogressive1 test
Duane's syndrome1 test
Duane-radial ray syndrome1 test
Duchenne muscular dystrophy1 test
EAST syndrome1 test
Early infantile epileptic encephalopathy with suppression bursts2 tests
Ehlers-Danlos syndrome2 tests
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 42 tests
Ehlers-Danlos syndrome, type 4 variant1 test
Eichsfeld type congenital muscular dystrophy1 test
Endplate acetylcholinesterase deficiency1 test
Epilepsy, familial focal, with variable foci 11 test
Facial nerve disease1 test
Familial hyperaldosteronism2 tests
Familial hyperaldosteronism type 31 test
Familial hypertrophic cardiomyopathy 11 test
Familial hypocalciuric hypercalcemia1 test
Familial hypokalemia-hypomagnesemia2 tests
Familial medullary thyroid carcinoma1 test
Familial partial epilepsy1 test
Familial partial lipodystrophy1 test
Familial partial lipodystrophy 22 tests
Familial partial lipodystrophy 32 tests
Familial partial lipodystrophy 41 test
Familial partial lipodystrophy 51 test
Familial partial lipodystrophy 61 test
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis1 test
Familial temporal lobe epilepsy 11 test
Familial thoracic aortic aneurysm and aortic dissection2 tests
Fanconi anemia1 test
Finnish congenital nephrotic syndrome1 test
Focal segmental glomerulosclerosis2 tests
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 91 test
Foveal hypoplasia and presenile cataract syndrome1 test
Freeman-Sheldon syndrome1 test
Fumarase deficiency1 test
Galloway-Mowat syndrome2 tests
Galloway-Mowat syndrome 11 test
Galloway-Mowat syndrome 31 test
Gaze palsy, familial horizontal, with progressive scoliosis1 test
Generalized epilepsy with febrile seizures plus1 test
Genetic glomerular disease1 test
Genetic hypertension1 test
Genetic interstitial lung disease1 test
Genetic lipodystrophy1 test
Genetic neuromuscular disease1 test
Gnathodiaphyseal dysplasia1 test
Gordon's syndrome1 test
Hecht syndrome1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 71 test
Hereditary Nephrotic Syndromes, Autosomal Recessive1 test
Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes2 tests
Hereditary amyloidosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary nephrotic syndrome2 tests
Hereditary pancreatitis1 test
Hereditary spastic paraplegia1 test
High bone mass osteogenesis imperfecta1 test
Homocystinuria, cblD type, variant 11 test
Hyperaldosteronism, familial, type I1 test
Hyperaldosteronism, familial, type II1 test
Hypercalcemia, infantile, 11 test
Hypercalcemia, infantile, 21 test
Hypertensive disorder1 test
Hyperuricemic nephropathy, familial juvenile, 21 test
Hypocalcemia, autosomal dominant 11 test
Hypocalcemia, autosomal dominant 1, with bartter syndrome1 test
Hypocalcemia, autosomal dominant 21 test
Hypocalcemia, autosomal dominant, with bartter syndrome1 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypocalciuric hypercalcemia, familial, type II1 test
Hypocalciuric hypercalcemia, familial, type III1 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypomagnesemia 5, renal, with ocular involvement1 test
Hypophosphatasia1 test
Hypophosphatemic rickets1 test
Idiopathic juvenile osteoporosis2 tests
Idiopathic nephrotic syndrome1 test
Infantile nephronophthisis1 test
Infantile-onset ascending hereditary spastic paralysis1 test
Inherited renal tubular disease1 test
Intellectual disability1 test
Interstitial nephritis, karyomegalic1 test
Isolated sulfite oxidase deficiency1 test
Jeune thoracic dystrophy1 test
Joubert syndrome1 test
Juvenile amyotrophic lateral sclerosis1 test
Juvenile nephropathic cystinosis1 test
Juvenile primary lateral sclerosis1 test
Kabuki syndrome1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Keppen-Lubinsky syndrome1 test
Keratitis, hereditary1 test
Leiomyoma of vulva and esophagus1 test
Lesch-Nyhan syndrome1 test
Lethal multiple pterygium syndrome1 test
Levy-Hollister syndrome1 test
Liddle syndrome 11 test
Lig4 syndrome1 test
Limb-girdle muscular dystrophy3 tests
Limb-girdle muscular dystrophy autosomal dominant1 test
Limb-girdle muscular dystrophy, autosomal recessive2 tests
Limb-girdle muscular dystrophy, type 1E1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C11 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C21 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C31 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
Lipodystrophy, congenital generalized, type 41 test
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
MYH9-related disorder1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Malignant migrating partial seizures of infancy1 test
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marfan syndrome2 tests
Marfan syndrome, neonatal1 test
Maturity onset diabetes mellitus in young1 test
Maturity-onset diabetes of the young, type 11 test
Maturity-onset diabetes of the young, type 21 test
Maturity-onset diabetes of the young, type 31 test
Meacham syndrome1 test
Meckel-Gruber syndrome1 test
Medullary cystic kidney disease 11 test
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1 test
Mental retardation, autosomal dominant 141 test
Mental retardation, autosomal dominant 151 test
Mental retardation, autosomal dominant 161 test
Methylmalonic acidemia with homocystinuria cblC2 tests
Methylmalonic acidemia with homocystinuria cblD1 test
Methylmalonic aciduria, cblD type, variant 21 test
Microangiopathic hemolytic anemia1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Mitochondrial DNA depletion syndrome 4B, MNGIE type1 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
Molybdenum cofactor deficiency, complementation group A1 test
Molybdenum cofactor deficiency, complementation group B1 test
Molybdenum cofactor deficiency, complementation group C1 test
Monogenic Non-Syndromic Obesity, Autosomal Recessive1 test
Mosaic variegated aneuploidy syndrome1 test
Mosaic variegated aneuploidy syndrome 11 test
Mosaic variegated aneuploidy syndrome 31 test
Motor neuron disease1 test
Mucopolysaccharidosis1 test
Muenke syndrome1 test
Multiple endocrine neoplasia1 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 21 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 2b1 test
Multiple endocrine neoplasia, type 41 test
Multiple fibrofolliculomas2 tests
Muscular dystrophy2 tests
Muscular dystrophy-dystroglycanopathy2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 141 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 141 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 121 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 141 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71 test
Myoclonic atonic seizures1 test
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1 test
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant1 test
Myopathy, distal, with anterior tibial onset1 test
Myopathy, myosin storage, autosomal recessive1 test
Myosin storage myopathy1 test
Myotonic syndrome1 test
Nail-patella syndrome1 test
Nemaline myopathy 31 test
Nephroblastoma1 test
Nephrocalcinosis1 test
Nephrogenic diabetes insipidus2 tests
Nephrolithiasis1 test
Nephronophthisis2 tests
Nephronophthisis 11 test
Nephronophthisis 31 test
Nephropathic cystinosis1 test
Nephrotic syndrome1 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 5, with or without ocular abnormalities1 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 71 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 92 tests
Nestor-Guillermo progeria syndrome1 test
Neurohypophyseal diabetes insipidus1 test
Nicolaides-Baraitser syndrome2 tests
Nijmegen breakage syndrome-like disorder1 test
Noonan syndrome2 tests
Ocular cystinosis1 test
Optic nerve hypoplasia, bilateral1 test
Oromandibular-limb hypogenesis spectrum1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta3 tests
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, recessive perinatal lethal1 test
Osteogenesis imperfecta, type VI1 test
Osteogenesis imperfecta, type XI1 test
Osteogenesis imperfecta, type xiii1 test
Osteogenesis imperfecta, type xiv1 test
Osteogenesis imperfecta, type xv1 test
Osteogenesis imperfecta, type xvii1 test
Osteoporosis with pseudoglioma2 tests
POLG-related disorders1 test
Paraganglioma1 test
Paragangliomas 11 test
Paragangliomas 21 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Pena-Shokeir syndrome type I2 tests
Pendred syndrome1 test
Perlman syndrome1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
Pfeiffer syndrome2 tests
Pheochromocytoma2 tests
Pierson syndrome2 tests
Pleuropulmonary blastoma1 test
Polycystic kidney disease 21 test
Polycystic kidney disease 31 test
Polycystic kidney disease 51 test
Polycystic kidney disease 6 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Polycystic liver disease 4 with or without kidney cysts1 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D1 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 61 test
Pontoneocerebellar hypoplasia1 test
Porphobilinogen synthase deficiency1 test
Postmenopausal osteoporosis1 test
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders1 test
Primary autosomal recessive microcephaly2 tests
Primary autosomal recessive microcephaly 31 test
Primary ciliary dyskinesia1 test
Primary familial hypertrophic cardiomyopathy1 test
Primary hyperoxaluria4 tests
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary hyperoxaluria, type III1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive sclerosing poliodystrophy1 test
Proopiomelanocortin deficiency2 tests
Proteasome-associated autoinflammatory syndrome 11 test
Pseudohypoaldosteronism1 test
Pseudohypoaldosteronism type 11 test
Pseudohypoaldosteronism type 2A1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pulmonary Hypertension, Primary, 11 test
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis1 test
Rare genetic epilepsy1 test
Rare genetic renal disease1 test
Renal cell carcinoma, nonpapillary1 test
Renal cell carcinoma, papillary, 11 test
Renal coloboma syndrome4 tests
Renal cysts and diabetes syndrome5 tests
Renal dysplasia2 tests
Renal hypodysplasia/aplasia 11 test
Renal neoplasm1 test
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
Rett syndrome1 test
Rippling muscle disease 21 test
Ruijs-Aalfs syndrome1 test
SHORT syndrome1 test
Saethre-Chotzen syndrome2 tests
Schaaf-Yang syndrome1 test
Schimke immuno-osseous dysplasia2 tests
Seckel syndrome2 tests
Seckel syndrome 11 test
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Seckel syndrome 71 test
Seckel syndrome 81 test
Seizures, benign familial infantile, 11 test
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome1 test
Severe myoclonic epilepsy in infancy1 test
Severe short stature1 test
Short Rib Polydactyly Syndrome1 test
Short stature, microcephaly, and endocrine dysfunction1 test
Spinal muscular atrophy2 tests
Spinal muscular atrophy, X-linked 21 test
Spinal muscular atrophy, distal, autosomal recessive, 11 test
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1 test
TARDBP-related frontotemporal dementia1 test
Thanatophoric dysplasia type 11 test
Thrombotic thrombocytopenic purpura1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Ullrich congenital muscular dystrophy1 test
Ullrich congenital muscular dystrophy 12 tests
Undetermined early-onset epileptic encephalopathy1 test
Upshaw-Schulman syndrome1 test
Van Maldergem syndrome1 test
Ventriculomegaly with cystic kidney disease1 test
Von Hippel-Lindau syndrome3 tests
WT1-Related Disorders1 test
Werdnig-Hoffmann disease1 test
Wilms tumor 11 test
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome1 test
X-linked diffuse leiomyomatosis-Alport syndrome1 test
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