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Human Genetics Bochum (Ruhr University Bochum), HGRUB

General information

Human Genetics Bochum, HGRUB
Ruhr University Bochum
University street 150
Bochum
Nordrhein-Westfalen
Germany - 44801

Organization ID: 508444

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 264

Gene

GeneSubmissionsLast Updated
AARS11Mar 6, 2024
ABCA71Jan 6, 2023
ACTG11Mar 6, 2024
ACTN21Nov 15, 2022
ADAMTSL42Oct 10, 2023
ADAMTSL4-AS21Oct 10, 2023
ANG1Nov 15, 2022
APC4Mar 6, 2024
ARHGEF101Mar 6, 2024
ARID1B2Mar 6, 2024
ATM4Oct 10, 2023
BMPR1A1Oct 10, 2023
BRCA111Mar 6, 2024
BRCA214Mar 6, 2024
C11orf653Oct 10, 2023
CACNA1D1Mar 6, 2024
CASK1Jan 6, 2023
CASK-AS11Jan 6, 2023
CASQ11Nov 15, 2022
CAV31Mar 6, 2024
CCDC501Mar 6, 2024
CDH11Nov 15, 2022
CEP1521Mar 6, 2024
CEP85L1Mar 6, 2024
CFTR2Oct 10, 2023
CFTR-AS11Oct 10, 2023
CHCHD101Nov 15, 2022
CHD31Nov 15, 2022
CHD72Mar 6, 2024
CHEK24Jan 6, 2023
CIC1Mar 6, 2024
CLTC1Nov 15, 2022
COL1A12Oct 10, 2023
COL5A12Mar 6, 2024
CPT1C1Mar 6, 2024
CREBBP1Mar 6, 2024
CTNNB11Nov 15, 2022
CUX11Mar 6, 2024
DMD1Oct 10, 2023
DSG21Mar 6, 2024
EGILA1Nov 15, 2022
ERBB42Nov 15, 2022
ETFDH2Nov 15, 2022
FBN14Nov 15, 2022
FIG41Mar 6, 2024
FKTN1Oct 10, 2023
FLNC5Mar 6, 2024
FLNC-AS13Oct 10, 2023
FPGT-TNNI3K1Mar 6, 2024
GANAB1Oct 10, 2023
GARS11Mar 6, 2024
GATAD2B1Mar 6, 2024
GJB11Mar 6, 2024
GNAS1Mar 6, 2024
GRN1Nov 15, 2022
HBB1Mar 6, 2024
HEXB1Mar 6, 2024
HTT1Oct 10, 2023
IRF2BPL1Nov 15, 2022
ITPR31Oct 10, 2023
JMJD81Mar 6, 2024
KCNA21Nov 15, 2022
KIF1A1Mar 6, 2024
KIF5A2Mar 6, 2024
KMT2C1Mar 6, 2024
KMT2E1Nov 15, 2022
KMT5B1Nov 15, 2022
LAMA22Jan 6, 2023
LMNA1Mar 6, 2024
LOC1060990621Mar 6, 2024
LOC1071335101Mar 6, 2024
LOC1246293541Nov 15, 2022
LOC1268064221Oct 10, 2023
LOC1268622641Nov 15, 2022
LOC1268625001Mar 6, 2024
LOC1268625711Oct 10, 2023
LOC1299959661Oct 10, 2023
LZTR11Mar 6, 2024
MED121Mar 6, 2024
MED131Mar 6, 2024
MED13L1Mar 6, 2024
MEFV1Nov 15, 2022
MFN21Mar 6, 2024
MIB11Mar 6, 2024
MICAL11Mar 6, 2024
MLH111Oct 10, 2023
MLH31Nov 15, 2022
MME1Oct 10, 2023
MPZ1Mar 6, 2024
MSH210Mar 6, 2024
MSH69Oct 10, 2023
MUTYH6Oct 10, 2023
MYBPC31Nov 15, 2022
MYH21Mar 6, 2024
MYH72Oct 10, 2023
MYHAS1Mar 6, 2024
MYLK1Mar 6, 2024
MYO61Nov 15, 2022
MYO7A1Mar 6, 2024
MYOT1Mar 6, 2024
NAA151Nov 15, 2022
NDP1Oct 10, 2023
NDP-AS11Oct 10, 2023
NDST11Nov 15, 2022
NEK11Oct 10, 2023
NF18Oct 10, 2023
NPRL21Mar 6, 2024
NSD11Mar 6, 2024
NTHL11Oct 10, 2023
OPTN2Oct 10, 2023
OXTR1Mar 6, 2024
PALB22Nov 15, 2022
PCDH191Mar 6, 2024
PCSK91Oct 10, 2023
PCYT21Mar 6, 2024
PDYN1Oct 10, 2023
PDYN-AS11Oct 10, 2023
PHF61Mar 6, 2024
PKD13Mar 6, 2024
PKD2L2-DT1Mar 6, 2024
PKHD12Oct 10, 2023
PMS24Mar 6, 2024
PNPT12Nov 15, 2022
POLG1Mar 6, 2024
POLGARF1Mar 6, 2024
POLR3B1Oct 10, 2023
POU3F31Mar 6, 2024
PPOX1Oct 10, 2023
PRKN1Mar 6, 2024
PRPH1Nov 15, 2022
PTEN1Nov 15, 2022
RAC32Mar 6, 2024
RAD51C1Oct 10, 2023
RAD51D2Mar 6, 2024
RAD51L3-RFFL2Mar 6, 2024
RNASE41Nov 15, 2022
RYR13Oct 10, 2023
RYR21Mar 6, 2024
SAMD9L1Mar 6, 2024
SCAPER1Mar 6, 2024
SCN1A2Oct 10, 2023
SCN1A-AS11Mar 6, 2024
SCN3A1Mar 6, 2024
SCN5A1Mar 6, 2024
SCN9A1Mar 6, 2024
SERPINI11Mar 6, 2024
SETD1A1Mar 6, 2024
SMAD41Oct 10, 2023
SOD12Oct 10, 2023
SOX41Oct 10, 2023
SPAST2Mar 6, 2024
SPG71Nov 15, 2022
SPTLC11Mar 6, 2024
SQSTM11Jan 6, 2023
SRCAP1Mar 6, 2024
STK111Jul 15, 2022
STUB11Mar 6, 2024
SYNE22Mar 6, 2024
SYNGAP11Jan 6, 2023
SYNGAP1-AS11Jan 6, 2023
TARDBP4Oct 10, 2023
TCF41Nov 15, 2022
TCOF11Mar 6, 2024
TMEM431Mar 6, 2024
TMEM651Mar 6, 2024
TNNI3K1Mar 6, 2024
TNNT22Mar 6, 2024
TP531Nov 15, 2022
TRAF71Jan 6, 2023
TROAP-AS11Nov 15, 2022
TRPV41Mar 6, 2024
TTN3Mar 6, 2024
TTN-AS13Mar 6, 2024
TUBA4A1Nov 15, 2022
TUBB4A1Nov 15, 2022
UPF3B1Mar 6, 2024
WASHC53Mar 6, 2024
WDR261Oct 10, 2023

Condition

NameSubmissionsLast Updated
Aldosterone-producing adenoma with seizures and neurological abnormalities1Mar 6, 2024
Amyotrophic lateral sclerosis2Jan 6, 2023
Amyotrophic lateral sclerosis type 11Oct 10, 2023
Amyotrophic lateral sclerosis type 1012Oct 10, 2023
Amyotrophic lateral sclerosis type 121Oct 10, 2023
Amyotrophic lateral sclerosis, susceptibility to, 241Oct 10, 2023
Amyotrophic lateral sclerosis, susceptibility to, 251Oct 10, 2023
Aortic aneurysm, familial thoracic 71Mar 6, 2024
Arrhythmogenic right ventricular dysplasia 101Mar 6, 2024
Atrial conduction disease1Mar 6, 2024
Atrophia bulborum hereditaria1Oct 10, 2023
Autosomal dominant nonsyndromic hearing loss 111Mar 6, 2024
Autosomal dominant nonsyndromic hearing loss 201Mar 6, 2024
Autosomal dominant nonsyndromic hearing loss 441Mar 6, 2024
Autosomal dominant polycystic kidney disease2Nov 15, 2022
Autosomal dominant slowed nerve conduction velocity1Mar 6, 2024
Autosomal recessive juvenile Parkinson disease 21Mar 6, 2024
Borjeson-Forssman-Lehmann syndrome1Mar 6, 2024
Breast-ovarian cancer, familial, susceptibility to, 19Mar 6, 2024
Breast-ovarian cancer, familial, susceptibility to, 28Mar 6, 2024
Breast-ovarian cancer, familial, susceptibility to, 31Oct 10, 2023
Breast-ovarian cancer, familial, susceptibility to, 41Mar 6, 2024
CHARGE syndrome2Mar 6, 2024
Carcinoma of pancreas1Jul 15, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Mar 6, 2024
Cardiomyopathy2Jan 6, 2023
Charcot-Marie-Tooth disease X-linked dominant 11Mar 6, 2024
Charcot-Marie-Tooth disease axonal type 2C1Mar 6, 2024
Charcot-Marie-Tooth disease axonal type 2N1Mar 6, 2024
Charcot-Marie-Tooth disease type 2A21Mar 6, 2024
Charcot-Marie-Tooth disease type 2D1Mar 6, 2024
Charcot-Marie-Tooth disease, demyelinating, IIA 1I1Oct 10, 2023
Charcot-Marie-Tooth disease, demyelinating, type 1J1Oct 10, 2023
Coffin-Siris syndrome 11Mar 6, 2024
Coffin-Siris syndrome 101Oct 10, 2023
Colorectal cancer5Nov 15, 2022
Colorectal cancer, hereditary nonpolyposis, type 27Oct 10, 2023
Congenital multicore myopathy with external ophthalmoplegia1Oct 10, 2023
Cystic fibrosis1Nov 15, 2022
Developmental and epileptic encephalopathy, 91Mar 6, 2024
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Mar 6, 2024
Dilated cardiomyopathy 1A1Mar 6, 2024
Dilated cardiomyopathy 1D1Mar 6, 2024
Dilated cardiomyopathy 1G1Mar 6, 2024
Duchenne muscular dystrophy1Oct 10, 2023
Ehlers-Danlos syndrome, classic type, 12Mar 6, 2024
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2Mar 6, 2024
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1Mar 6, 2024
Endometrial carcinoma1Nov 15, 2022
Epilepsy, familial focal, with variable foci 21Mar 6, 2024
Epilepsy, familial focal, with variable foci 41Mar 6, 2024
Epilepsy, familial temporal lobe, 11Mar 6, 2024
Familial Mediterranean fever, autosomal dominant1Nov 15, 2022
Familial adenomatous polyposis 15Mar 6, 2024
Familial adenomatous polyposis 25Oct 10, 2023
Familial adenomatous polyposis 31Oct 10, 2023
Familial cancer of breast3Oct 10, 2023
Familial encephalopathy with neuroserpin inclusion bodies1Mar 6, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 22Nov 15, 2022
Global developmental delay17Jan 6, 2023
Global developmental delay with or without impaired intellectual development1Mar 6, 2024
Hearing impairment1Nov 15, 2022
Hereditary diffuse gastric adenocarcinoma1Nov 15, 2022
Hereditary nonpolyposis colorectal carcinoma1Jan 6, 2023
Hereditary pancreatitis1Oct 10, 2023
Hereditary spastic paraplegia 101Mar 6, 2024
Hereditary spastic paraplegia 301Mar 6, 2024
Hereditary spastic paraplegia 42Mar 6, 2024
Hereditary spastic paraplegia 731Mar 6, 2024
Hereditary spastic paraplegia 83Mar 6, 2024
Hypercholesterolemia, autosomal dominant, 31Oct 10, 2023
Hypertrophic cardiomyopathy1Nov 15, 2022
Hypertrophic cardiomyopathy 11Mar 6, 2024
Hypertrophic cardiomyopathy 261Mar 6, 2024
Intellectual developmental disorder 611Mar 6, 2024
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1Mar 6, 2024
Intellectual disability, autosomal dominant 451Mar 6, 2024
Juvenile polyposis syndrome1Oct 10, 2023
Kleefstra syndrome 21Mar 6, 2024
Left ventricular noncompaction 71Mar 6, 2024
Lissencephaly 101Mar 6, 2024
Long QT syndrome 31Mar 6, 2024
Lopes-Maciel-Rodan syndrome1Oct 10, 2023
Lynch syndrome 116Mar 6, 2024
Lynch syndrome 44Mar 6, 2024
Lynch syndrome 57Oct 10, 2023
Marfan syndrome3Nov 15, 2022
Melanoma1Jan 6, 2023
Microcephaly 9, primary, autosomal recessive1Mar 6, 2024
Muscular dystrophy2Jan 6, 2023
Myofibrillar myopathy 31Mar 6, 2024
Myofibrillar myopathy 51Mar 6, 2024
Myopathy4Nov 15, 2022
Myopathy, distal, 6, adult-onset, autosomal dominant1Nov 15, 2022
Myopathy, proximal, and ophthalmoplegia1Mar 6, 2024
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies2Mar 6, 2024
Neurofibromatosis, type 17Oct 10, 2023
Neurofibromatosis-Noonan syndrome1Nov 15, 2022
Neuropathy, hereditary sensory and autonomic, type 1A1Mar 6, 2024
Noonan syndrome 21Mar 6, 2024
Pancreatic cancer, susceptibility to, 22Oct 10, 2023
Pancreatic cancer, susceptibility to, 41Oct 10, 2023
Polycystic kidney disease 3 with or without polycystic liver disease1Oct 10, 2023
Polycystic kidney disease 42Oct 10, 2023
Polycystic kidney disease, adult type1Mar 6, 2024
Polyposis syndrome, hereditary mixed, 21Oct 10, 2023
Primary erythromelalgia1Mar 6, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Mar 6, 2024
Sandhoff disease1Mar 6, 2024
See cases24Mar 6, 2024
Seizure1Nov 15, 2022
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Mar 6, 2024
Severe myoclonic epilepsy in infancy1Oct 10, 2023
Skraban-Deardorff syndrome1Oct 10, 2023
Snijders blok-fisher syndrome1Mar 6, 2024
Sotos syndrome1Mar 6, 2024
Spastic paraplegia1Nov 15, 2022
Spastic paraplegia 82, autosomal recessive1Mar 6, 2024
Spinocerebellar ataxia 481Mar 6, 2024
Spinocerebellar ataxia 491Mar 6, 2024
Spinocerebellar ataxia type 231Oct 10, 2023
Syndromic X-linked intellectual disability 141Mar 6, 2024
Treacher Collins syndrome 11Mar 6, 2024
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome1Mar 6, 2024
not provided6Oct 10, 2023