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Institute of Human Genetics (University Hospital of Duesseldorf), UKD-HHU

General information

Institute of Human Genetics, UKD-HHU
University Hospital of Duesseldorf
Moorenstrasse 5
Duesseldorf
Nordrhein-Westfalen
Germany - 40225

Organization ID: 505956

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 219

Gene

GeneSubmissionsLast Updated
AARS12Oct 20, 2023
ABCC91Nov 28, 2023
ACTA21Dec 20, 2023
ADAT31Nov 28, 2023
ADGRV11Oct 20, 2023
AHDC11Dec 20, 2023
AIFM11Oct 20, 2023
ALG111Dec 20, 2023
ANKRD111Oct 20, 2023
AOPEP3Nov 28, 2023
APC1Nov 28, 2023
ARHGAP312Dec 20, 2023
ARID1B2Nov 28, 2023
ARSA1Oct 20, 2023
ASXL11Oct 20, 2023
ASXL31Oct 20, 2023
ATM3Nov 28, 2023
ATP1A21Dec 20, 2023
ATP1A32Nov 28, 2023
ATP2A11Oct 20, 2023
ATRX1Nov 28, 2023
AUTS21Oct 20, 2023
BICD21Oct 20, 2023
BPTF1Dec 20, 2023
BRCA11Nov 28, 2023
BRCA22Nov 28, 2023
C11orf652Nov 28, 2023
CACNA1A2Oct 20, 2023
CACNA1G1Feb 15, 2023
CAMTA11Oct 20, 2023
CC2D2A1Nov 28, 2023
CDH151Oct 20, 2023
CDKL51Nov 28, 2023
CERT11Dec 20, 2023
CFTR1Nov 28, 2023
CFTR-AS11Nov 28, 2023
CHD11Oct 20, 2023
CHEK21Nov 28, 2023
CHRNA71Dec 20, 2023
CIC2Dec 20, 2023
CLCN12Nov 28, 2023
CLPB3Dec 20, 2023
CNOT11Oct 20, 2023
COL2A11Nov 28, 2023
COL5A21Dec 20, 2023
CPLANE13Dec 20, 2023
CREBBP1Dec 20, 2023
CSNK2A11Nov 28, 2023
CTNS1Dec 20, 2023
CYB5R31Oct 20, 2023
CYP7B11Dec 20, 2023
DCX1Oct 20, 2023
DDX3X1Dec 20, 2023
DHCR71Nov 28, 2023
DNAJC301Oct 20, 2023
EDNRB1Oct 20, 2023
EDNRB-AS11Oct 20, 2023
EFNB11Nov 28, 2023
EP3001Oct 20, 2023
EXOSC31Nov 28, 2023
EXT13Oct 20, 2023
EXT21Oct 20, 2023
FAH1Jul 18, 2023
FBN11Oct 20, 2023
FBXO281Oct 20, 2023
FGF91Feb 2, 2023
FOXP11Nov 28, 2023
GCH12Oct 20, 2023
GJB11Oct 20, 2023
GJB22Dec 20, 2023
GLI21Oct 20, 2023
GLUD11Dec 20, 2023
GNS1Oct 20, 2023
GPC61Dec 20, 2023
GPC6-AS21Dec 20, 2023
GRIA11Dec 20, 2023
GRIA41Oct 20, 2023
GRIN2A1Feb 23, 2023
GRIN2D1Oct 20, 2023
GRN1Nov 28, 2023
HNRNPK1Dec 20, 2023
HNRNPK-AS11Dec 20, 2023
HSPB11Oct 20, 2023
HSPG22Nov 28, 2023
IFIH13Dec 20, 2023
KAT6A2Nov 28, 2023
KCNB11Nov 28, 2023
KCNC11Oct 20, 2023
KCNC31Oct 20, 2023
KCND31Feb 15, 2023
KCNMA11Dec 20, 2023
KCNQ21Dec 20, 2023
KDM3B1Nov 28, 2023
KDM5B1Oct 20, 2023
KIF1A1Oct 20, 2023
KIF5A1Oct 20, 2023
KMT2A1Nov 28, 2023
KMT2E1Oct 20, 2023
KMT5B2Dec 20, 2023
LDLR4Nov 28, 2023
LIX1L-AS11Oct 20, 2023
LMBRD21Jul 18, 2023
LOC1153081611Oct 20, 2023
LOC1268058511Oct 20, 2023
LOC1268065831Oct 20, 2023
LOC1299325791Oct 20, 2023
LOC1299975221Oct 20, 2023
LOC1299986031Oct 20, 2023
MAN2C11Oct 20, 2023
MC1R1Oct 20, 2023
MED121Oct 20, 2023
MED12L1Nov 28, 2023
MIA31Oct 20, 2023
MIR68861Oct 20, 2023
MKS11Nov 28, 2023
MPZ2Nov 28, 2023
MRE111Nov 28, 2023
MT-ATP61Nov 28, 2023
MTOR1Nov 28, 2023
MVP-DT1Oct 20, 2023
NBN1Dec 20, 2023
NDUFA131Dec 20, 2023
NEB1Nov 28, 2023
NKX2-12Oct 20, 2023
NR2F21May 30, 2023
OBI1-AS11Dec 20, 2023
OFD11Nov 28, 2023
OPN1LW1Oct 20, 2023
OSGIN21Dec 20, 2023
PALB21Dec 20, 2023
PAX61Oct 20, 2023
PCGF21Nov 28, 2023
PCLO2Oct 20, 2023
PHF81Nov 28, 2023
PIEZO11Nov 28, 2023
PIGT1Dec 20, 2023
POLG1Oct 20, 2023
POLGARF1Oct 20, 2023
POLR2A2Dec 20, 2023
POU4F11Dec 20, 2023
PRKCG1Oct 20, 2023
PRNP2Dec 20, 2023
PRRT21Oct 20, 2023
QRICH12Nov 28, 2023
RAB33A1Oct 20, 2023
RBM8A1Oct 20, 2023
RELN1Dec 20, 2023
RIF11Nov 28, 2023
RNF2161Dec 20, 2023
SACS2Oct 20, 2023
SAMD9L1Feb 15, 2023
SATB21Oct 20, 2023
SCAMP41Nov 28, 2023
SCN3A1Dec 20, 2023
SDHB1Nov 28, 2023
SDHC1Nov 28, 2023
SETD51Nov 28, 2023
SFTA32Oct 20, 2023
SH3TC21Nov 28, 2023
SLC33A11Oct 20, 2023
SLC39A141Oct 20, 2023
SLC3A11Nov 28, 2023
SON2Nov 28, 2023
SOX41Oct 20, 2023
SPAST2Oct 20, 2023
SPEN1Oct 20, 2023
SPG111Oct 20, 2023
SPG73Nov 28, 2023
SRCAP2Oct 20, 2023
STUB12Oct 20, 2023
SYT11Dec 20, 2023
TAF21Oct 20, 2023
TBC1D241Dec 20, 2023
TCOF12Dec 20, 2023
TET31Oct 20, 2023
THAP11Oct 20, 2023
THTPA1Dec 20, 2023
TINF21Oct 20, 2023
TLK21Dec 20, 2023
TMEM2401Dec 20, 2023
TNNT31Nov 28, 2023
TRAPPC92Oct 20, 2023
TSC11Oct 20, 2023
TSC21Oct 20, 2023
TUBB4A1Nov 28, 2023
UTP14C1Dec 20, 2023
VPS13A2Oct 20, 2023
VPS13B3Oct 20, 2023
VPS162Nov 28, 2023
WDR111Oct 20, 2023
WNT5A1Oct 20, 2023
XPR11Oct 20, 2023
ZFHX21Dec 20, 2023
ZMIZ11Oct 20, 2023
ZMYND111Dec 20, 2023

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria, type VIIB2Dec 20, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Dec 20, 2023
ALG11-congenital disorder of glycosylation1Dec 20, 2023
Adams-Oliver syndrome 12Dec 20, 2023
Alpha thalassemia-X-linked intellectual disability syndrome1Nov 28, 2023
Aniridia 11Oct 20, 2023
Arthrogryposis multiplex congenita 61Nov 28, 2023
Arthrogryposis, distal, type 2B21Nov 28, 2023
Ataxia-telangiectasia syndrome2Nov 28, 2023
Ataxia-telangiectasia-like disorder 11Nov 28, 2023
Au-Kline syndrome1Dec 20, 2023
Autism spectrum disorder due to AUTS2 deficiency1Oct 20, 2023
Autosomal dominant Robinow syndrome 11Oct 20, 2023
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Oct 20, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2Nov 28, 2023
Autosomal recessive nonsyndromic hearing loss 1042Dec 20, 2023
Autosomal recessive omodysplasia1Dec 20, 2023
Autosomal recessive spinocerebellar ataxia 162Oct 20, 2023
Basal ganglia calcification, idiopathic, 61Oct 20, 2023
Basal ganglia calcification, idiopathic, childhood-onset3Dec 20, 2023
Beck-Fahrner syndrome1Oct 20, 2023
Benign hereditary chorea2Oct 20, 2023
Blepharophimosis - intellectual disability syndrome, MKB type1Oct 20, 2023
Bohring-Opitz syndrome1Oct 20, 2023
Breast-ovarian cancer, familial, susceptibility to, 11Nov 28, 2023
Breast-ovarian cancer, familial, susceptibility to, 22Nov 28, 2023
Brody myopathy1Oct 20, 2023
Bronchiectasis with or without elevated sweat chloride 11Nov 28, 2023
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Oct 20, 2023
Cerebellar ataxia-hypogonadism syndrome1Dec 20, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2Dec 20, 2023
Charcot-Marie-Tooth disease X-linked dominant 11Oct 20, 2023
Charcot-Marie-Tooth disease axonal type 2F1Oct 20, 2023
Charcot-Marie-Tooth disease axonal type 2N2Oct 20, 2023
Charcot-Marie-Tooth disease dominant intermediate D1Oct 20, 2023
Charcot-Marie-Tooth disease type 2I1Nov 28, 2023
Charcot-Marie-Tooth disease type 4C1Nov 28, 2023
Charlevoix-Saguenay spastic ataxia2Oct 20, 2023
Chorea-acanthocytosis2Oct 20, 2023
Chromosome 15q13.3 microdeletion syndrome1Dec 20, 2023
Chromosome 2q32-q33 deletion syndrome1Oct 20, 2023
Coffin-Siris syndrome 13Nov 28, 2023
Cohen syndrome3Oct 20, 2023
Colorectal cancer1Nov 28, 2023
Cone monochromatism1Oct 20, 2023
Congenital disorder of deglycosylation 21Oct 20, 2023
Congenital heart defects, multiple types, 41May 30, 2023
Congenital myotonia, autosomal recessive form2Nov 28, 2023
Craniofrontonasal syndrome1Nov 28, 2023
Cystinuria1Nov 28, 2023
Deficiency of cytochrome-b5 reductase1Oct 20, 2023
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Nov 28, 2023
Developmental and epileptic encephalopathy 1001Oct 20, 2023
Developmental and epileptic encephalopathy, 21Nov 28, 2023
Developmental and epileptic encephalopathy, 261Nov 28, 2023
Developmental and epileptic encephalopathy, 461Oct 20, 2023
Developmental and epileptic encephalopathy, 621Dec 20, 2023
Developmental and epileptic encephalopathy, 71Dec 20, 2023
Developmental delay with variable neurologic and brain abnormalities1Jul 18, 2023
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Oct 20, 2023
Diets-Jongmans syndrome1Nov 28, 2023
Dystonia 121Nov 28, 2023
Dystonia 302Nov 28, 2023
Dystonia 313Nov 28, 2023
Dystonia 52Oct 20, 2023
Ehlers-Danlos syndrome, classic type, 21Dec 20, 2023
Episodic ataxia type 22Oct 20, 2023
Episodic kinesigenic dyskinesia 11Oct 20, 2023
Exostoses, multiple, type 13Oct 20, 2023
Exostoses, multiple, type 21Oct 20, 2023
Familial adenomatous polyposis 11Nov 28, 2023
Familial cancer of breast2Dec 20, 2023
Familial temporal lobe epilepsy 71Dec 20, 2023
Fatal familial insomnia2Dec 20, 2023
Febrile seizures, familial, 41Oct 20, 2023
Floating-Harbor syndrome1Oct 20, 2023
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1Nov 28, 2023
Generalized epilepsy-paroxysmal dyskinesia syndrome1Dec 20, 2023
Hereditary spastic paraplegia 101Oct 20, 2023
Hereditary spastic paraplegia 111Oct 20, 2023
Hereditary spastic paraplegia 42Oct 20, 2023
Hereditary spastic paraplegia 421Oct 20, 2023
Hereditary spastic paraplegia 5A1Dec 20, 2023
Hereditary spastic paraplegia 73Nov 28, 2023
Hypercholesterolemia, familial, 14Nov 28, 2023
Hyperinsulinism-hyperammonemia syndrome1Dec 20, 2023
Hyperostosis cranialis interna1Oct 20, 2023
Hypertrichotic osteochondrodysplasia Cantu type1Nov 28, 2023
Hypogonadotropic hypogonadism 14 with or without anosmia1Oct 20, 2023
Hypomyelinating leukodystrophy 61Nov 28, 2023
Indifference to pain, congenital, autosomal dominant1Dec 20, 2023
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Dec 20, 2023
Intellectual developmental disorder, autosomal dominant 671Dec 20, 2023
Intellectual disability, X-linked 1021Dec 20, 2023
Intellectual disability, autosomal dominant 12Dec 20, 2023
Intellectual disability, autosomal dominant 301Dec 20, 2023
Intellectual disability, autosomal dominant 341Dec 20, 2023
Intellectual disability, autosomal dominant 451Oct 20, 2023
Intellectual disability, autosomal dominant 512Dec 20, 2023
Intellectual disability, autosomal dominant 571Dec 20, 2023
Intellectual disability, autosomal dominant 91Oct 20, 2023
Intellectual disability, autosomal recessive 132Oct 20, 2023
Intellectual disability, autosomal recessive 651Oct 20, 2023
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Nov 28, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Nov 28, 2023
Intellectual disability-strabismus syndrome1Nov 28, 2023
Joubert syndrome 13Nov 28, 2023
KBG syndrome1Oct 20, 2023
Landau-Kleffner syndrome1Feb 23, 2023
Leber optic atrophy, susceptibility to1Oct 20, 2023
Leigh syndrome1Nov 28, 2023
Lissencephaly type 1 due to doublecortin gene mutation1Oct 20, 2023
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Nov 28, 2023
Meckel syndrome, type 11Nov 28, 2023
Menke-Hennekam syndrome 11Dec 20, 2023
Metachromatic leukodystrophy1Oct 20, 2023
Microcephaly, normal intelligence and immunodeficiency1Dec 20, 2023
Microcephaly-thin corpus callosum-intellectual disability syndrome1Oct 20, 2023
Migraine, familial hemiplegic, 21Dec 20, 2023
Mitochondrial complex 1 deficiency, nuclear type 281Dec 20, 2023
Moyamoya disease 51Dec 20, 2023
Mucopolysaccharidosis, MPS-III-D1Oct 20, 2023
Multiple congenital anomalies-hypotonia-seizures syndrome 31Dec 20, 2023
Multiple synostoses syndrome 31Feb 2, 2023
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Dec 20, 2023
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Oct 20, 2023
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities2Dec 20, 2023
Neurodevelopmental disorder with or without seizures and gait abnormalities1Oct 20, 2023
Neutropenia, severe congenital, 2, autosomal dominant1Dec 20, 2023
Nizon-Isidor syndrome1Nov 28, 2023
O'Donnell-Luria-Rodan syndrome1Oct 20, 2023
Ocular cystinosis1Dec 20, 2023
Odontochondrodysplasia 2 with hearing loss and diabetes1Oct 20, 2023
Okur-Chung neurodevelopmental syndrome1Nov 28, 2023
Orofaciodigital syndrome I1Nov 28, 2023
Orofaciodigital syndrome type 61Dec 20, 2023
Paragangliomas 31Nov 28, 2023
Paragangliomas 41Nov 28, 2023
Pilarowski-Bjornsson syndrome1Oct 20, 2023
Pontocerebellar hypoplasia type 1B1Nov 28, 2023
Pontocerebellar hypoplasia type 32Oct 20, 2023
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Oct 20, 2023
Progressive myoclonic epilepsy type 71Oct 20, 2023
Progressive sclerosing poliodystrophy1Oct 20, 2023
Radial aplasia-thrombocytopenia syndrome1Oct 20, 2023
Radio-Tartaglia syndrome1Oct 20, 2023
Revesz syndrome1Oct 20, 2023
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1Dec 20, 2023
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Oct 20, 2023
Schwartz-Jampel syndrome type 12Nov 28, 2023
Severe X-linked mitochondrial encephalomyopathy1Oct 20, 2023
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Oct 20, 2023
Skin/hair/eye pigmentation, variation in, 21Oct 20, 2023
Smith-Lemli-Opitz syndrome1Nov 28, 2023
Spinocerebellar ataxia 491Feb 15, 2023
Spinocerebellar ataxia type 131Oct 20, 2023
Spinocerebellar ataxia type 141Oct 20, 2023
Spinocerebellar ataxia type 19/221Feb 15, 2023
Spinocerebellar ataxia type 211Dec 20, 2023
Spinocerebellar ataxia type 421Feb 15, 2023
Spondyloepimetaphyseal dysplasia, Strudwick type1Nov 28, 2023
Syndromic X-linked intellectual disability Siderius type1Nov 28, 2023
Torsion dystonia 61Oct 20, 2023
Treacher Collins syndrome 12Dec 20, 2023
Tuberous sclerosis 11Oct 20, 2023
Tuberous sclerosis 21Oct 20, 2023
Turnpenny-fry syndrome1Nov 28, 2023
Tyrosinemia type I1Jul 18, 2023
Ververi-Brady syndrome2Nov 28, 2023
Vissers-Bodmer syndrome1Oct 20, 2023
Waardenburg syndrome type 4A1Oct 20, 2023
Weill-Marchesani syndrome 2, dominant1Oct 20, 2023
Wiedemann-Steiner syndrome1Nov 28, 2023
ZTTK syndrome2Nov 28, 2023