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Department of Human Genetics (Hannover Medical School)

General information

Department of Human Genetics
Hannover Medical School
Carl Neuberg Str. 1
Hannover
Niedersachsen
Germany
https://www.mhh.de/humangenetik
Organization ID: 508447

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 208

Gene

GeneSubmissionsLast Updated
ABCA32Mar 21, 2024
ACADM1Dec 8, 2022
ACVRL11Jan 20, 2023
ADAT31Sep 29, 2022
ADGRL11Apr 29, 2024
ADGRL1-AS11Apr 29, 2024
ADNP1May 19, 2023
ANK31Jun 27, 2024
ANKRD113Jul 9, 2024
AP1G11Jul 24, 2023
ARID1B2Nov 30, 2023
ARMC51Jul 3, 2024
ATAD3A1Aug 25, 2022
ATM4Jul 4, 2024
ATP7B1Jun 5, 2024
AUTS21Oct 13, 2022
BARD11Jun 5, 2023
BCL11A1Apr 19, 2023
BMPR21Jun 11, 2024
BRCA14Jul 4, 2024
BRCA28Jul 4, 2024
BRIP12Jul 4, 2024
C10orf671Feb 12, 2023
CACNA1A1Sep 12, 2022
CCDC391Aug 25, 2022
CDH11Jun 10, 2024
CDH231Jan 22, 2024
CEP2902Aug 9, 2023
CFTR1Apr 18, 2023
CHD51Feb 2, 2024
CHD71Aug 29, 2023
CHD81Jun 15, 2023
CHEK21Jun 21, 2024
CIB21May 10, 2023
CIC1Apr 19, 2023
CIMIP2B1Aug 9, 2023
COL1A11Jul 15, 2022
COL4A51Dec 6, 2023
COPA1Jul 6, 2023
CPA11Dec 8, 2022
CREBBP1Feb 14, 2023
DARS11Aug 25, 2022
DARS21Mar 27, 2024
DENND5A1Sep 14, 2023
DLG31Jun 14, 2024
DLL31Jun 28, 2023
DNAAF41Aug 15, 2023
DNAAF4-CCPG11Aug 15, 2023
DNAH113Sep 21, 2023
DNAH54Apr 4, 2024
DNAI21Jan 30, 2024
DNAJB21Mar 24, 2023
DOCK71Jun 12, 2024
DRC11Jun 8, 2023
DYNC2H11Apr 14, 2023
EDNRB1May 28, 2024
EDNRB-AS11May 28, 2024
EIF2AK41Nov 30, 2023
ELANE1Feb 13, 2023
EPHB61Mar 13, 2024
EXT12Feb 16, 2024
FECH1Aug 2, 2023
FGF82Jun 10, 2024
GATA21Jun 28, 2024
GLA2Jul 9, 2024
GRIN2D1Jul 5, 2024
HPGD1Jun 25, 2024
HR1Aug 17, 2022
HTT1Jun 11, 2024
HUWE11May 15, 2023
IL10RA1Feb 13, 2023
IL36RN1Sep 13, 2023
IL6ST1Aug 9, 2023
ILDR11Dec 6, 2023
IRF71Aug 24, 2023
IVD1May 5, 2023
JAG11Jun 18, 2024
JMJD81Jun 11, 2024
KANSL12Apr 12, 2023
KCNT11Nov 30, 2023
KDM5B1Dec 22, 2023
KIT1Nov 9, 2023
KMT2E1Aug 15, 2022
LAMA31May 8, 2024
LAMC21Jun 20, 2024
LARP71Jun 15, 2023
LDLR1Jun 12, 2024
LMX1A1May 31, 2023
LMX1A-AS21May 31, 2023
LOC1153081611Nov 30, 2023
LOC1254677681Jul 31, 2023
LOC1268599611Apr 20, 2023
LOC1268622641Jun 9, 2022
LPIN21Dec 12, 2023
MAGT11Jun 26, 2023
MEA11May 22, 2023
MED131Sep 11, 2023
MED13L1Feb 22, 2023
MEFV4Feb 13, 2023
MEN11Apr 26, 2024
MIR68571Jun 13, 2024
MLH13Jun 20, 2024
MSH22Jun 7, 2024
MSH31Jun 18, 2024
MSH62Jun 28, 2024
MTM11Apr 28, 2023
MTTP1Feb 20, 2023
MYH31Dec 6, 2023
NALCN1Jun 16, 2023
NBEA1Feb 28, 2024
NEU11Jul 8, 2024
NF12Jun 12, 2024
NIPBL1Feb 22, 2023
NLRP124Apr 12, 2024
ODAD11Jan 22, 2024
OTOG1Apr 10, 2024
PAFAH1B31Apr 19, 2023
PALB21Jun 21, 2024
PAX31Dec 6, 2023
PCDH191Jul 31, 2023
PEX11Oct 16, 2023
PIK3R12Sep 14, 2023
PINK11May 30, 2024
PKD18Jun 12, 2024
PKD21May 17, 2024
PLCG21Jul 10, 2023
PMS21Jun 7, 2024
PPM1D1Jun 7, 2024
PPP2R5D1May 22, 2023
PRSS121May 3, 2023
PSAP1Jan 22, 2024
PTEN1Jun 21, 2024
PTPRQ1Jul 6, 2023
RAD51C2Jun 20, 2024
RAD51D3Mar 3, 2023
RAD51L3-RFFL3Mar 3, 2023
RARS11Jan 9, 2024
RET1Feb 1, 2022
RPL36A-HNRNPH22Jul 9, 2024
RSPH4A1Aug 25, 2022
RUSC21Aug 9, 2023
RYR11Nov 9, 2023
SAMD9L1Jun 12, 2024
SCAMP41Sep 29, 2022
SCN10A1Jun 10, 2024
SCN1A2May 6, 2024
SCN2A1Jun 27, 2024
SH2D71May 10, 2023
SHANK21May 12, 2023
SI1Mar 24, 2023
SMC1A1Jun 13, 2024
SPG71Mar 13, 2023
SPTBN11Apr 21, 2023
STING11Aug 31, 2022
STUB11Jun 11, 2024
SYNE11Dec 6, 2023
TBCEL-TECTA3Apr 27, 2023
TECTA3Apr 27, 2023
THSD41Jun 19, 2024
TJP21Aug 25, 2022
TMC11May 15, 2024
TMEM41B1Sep 14, 2023
TMPRSS31Apr 27, 2023
TNFRSF13B1Jun 15, 2023
TP531Apr 12, 2023
TPK11Mar 13, 2023
TRIO1Nov 9, 2023
TRPV61Mar 13, 2024
TSC11Jul 5, 2024
TSC21Jul 2, 2024
TTN1Apr 4, 2024
TTN-AS11Apr 4, 2024
UMPS1Jan 16, 2024
USP71May 15, 2023
VPS13B1Sep 19, 2023
WNT10A1Jun 20, 2024
ZNF1481Jul 12, 2023

Condition

NameSubmissionsLast Updated
ACTH-independent macronodular adrenal hyperplasia 21Jul 3, 2024
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1May 19, 2023
Abetalipoproteinaemia1Feb 20, 2023
Acrodermatitis continua suppurativa of Hallopeau1Sep 13, 2023
Agammaglobulinemia 7, autosomal recessive1Aug 10, 2023
Alagille syndrome due to a JAG1 point mutation1Jun 18, 2024
Alopecia universalis congenita1Aug 17, 2022
Aortic aneurysm, familial thoracic 121Jun 19, 2024
Asphyxiating thoracic dystrophy 31Apr 14, 2023
Ataxia-telangiectasia syndrome1Jun 11, 2024
Autism spectrum disorder due to AUTS2 deficiency1Oct 13, 2022
Autism, susceptibility to, 171May 12, 2023
Autoimmune interstitial lung disease-arthritis syndrome2Jul 6, 2023
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1Jul 10, 2023
Autosomal dominant nonsyndromic hearing loss 71May 31, 2023
Autosomal recessive ataxia, Beauce type1Dec 6, 2023
Autosomal recessive early-onset Parkinson disease 61May 30, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2J1Apr 4, 2024
Autosomal recessive nonsyndromic hearing loss 18B1Apr 10, 2024
Autosomal recessive nonsyndromic hearing loss 213Apr 27, 2023
Autosomal recessive nonsyndromic hearing loss 281Nov 9, 2023
Autosomal recessive nonsyndromic hearing loss 421Dec 6, 2023
Autosomal recessive nonsyndromic hearing loss 481May 10, 2023
Autosomal recessive nonsyndromic hearing loss 71May 15, 2024
Autosomal recessive nonsyndromic hearing loss 81Apr 27, 2023
Autosomal recessive nonsyndromic hearing loss 84A1Jul 6, 2023
Breast-ovarian cancer, familial, susceptibility to, 15Jul 4, 2024
Breast-ovarian cancer, familial, susceptibility to, 26Jul 4, 2024
Breast-ovarian cancer, familial, susceptibility to, 32Jun 20, 2024
Breast-ovarian cancer, familial, susceptibility to, 42Mar 3, 2023
Breast-ovarian cancer, familial, susceptibility to, 51Jun 21, 2024
CHARGE syndrome1Aug 29, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Feb 22, 2023
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1Mar 13, 2023
Cholestasis, progressive familial intrahepatic, 41Aug 25, 2022
Coffin-Siris syndrome 12Nov 30, 2023
Cohen syndrome1Sep 19, 2023
Colorectal cancer, hereditary nonpolyposis, type 23Jun 20, 2024
Combined PSAP deficiency1Jan 22, 2024
Cornelia de Lange syndrome 11Feb 22, 2023
Cowden syndrome 11Jun 21, 2024
Cyclical neutropenia1Feb 13, 2023
Cystic fibrosis1Apr 18, 2023
Developmental and epileptic encephalopathy, 111Jun 27, 2024
Developmental and epileptic encephalopathy, 141Nov 30, 2023
Developmental and epileptic encephalopathy, 231Jun 12, 2024
Developmental and epileptic encephalopathy, 461Jul 5, 2024
Developmental and epileptic encephalopathy, 491Sep 14, 2023
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Jun 13, 2024
Developmental and epileptic encephalopathy, 91Jul 31, 2023
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders1Apr 29, 2024
Developmental delay, impaired speech, and behavioral abnormalities1Apr 21, 2023
Dias-Logan syndrome2Apr 19, 2023
Epidermolysis bullosa, junctional 2B, severe1May 8, 2024
Epidermolysis bullosa, junctional 3B, severe1Jun 20, 2024
Episodic ataxia type 21Sep 12, 2022
Episodic pain syndrome, familial, 21Jun 10, 2024
Exostoses, multiple, type 12Feb 16, 2024
Fabry disease2Jul 9, 2024
Familial Mediterranean fever1Feb 13, 2023
Familial Mediterranean fever, autosomal dominant3Jun 9, 2022
Familial adenomatous polyposis 41Jun 18, 2024
Familial cancer of breast7Jul 4, 2024
Familial cold autoinflammatory syndrome 23Apr 12, 2024
Familial pulmonary capillary hemangiomatosis1Nov 30, 2023
Freeman-Sheldon syndrome1Dec 6, 2023
Generalized epilepsy with febrile seizures plus, type 21May 6, 2024
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1Jul 12, 2023
Hao-Fountain syndrome1May 15, 2023
Harel-Yoon syndrome1Aug 25, 2022
Hereditary diffuse gastric adenocarcinoma1Jun 10, 2024
Hereditary hemorrhagic telangiectasia1Jan 20, 2023
Hereditary pancreatitis2Mar 13, 2024
Hereditary spastic paraplegia 71Mar 13, 2023
Hogue-Janssens syndrome 11May 22, 2023
Hypercholesterolemia, familial, 11Jun 12, 2024
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11Jun 25, 2024
Hypogonadotropic hypogonadism 6 with or without anosmia2Jun 10, 2024
Hypomyelinating leukodystrophy 91Jan 9, 2024
Hypomyelination with brain stem and spinal cord involvement and leg spasticity1Aug 25, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Jun 16, 2023
Immunodeficiency 391Aug 24, 2023
Immunodeficiency, common variable, 21Jun 15, 2023
Inflammatory bowel disease 281Feb 13, 2023
Intellectual developmental disorder 611Sep 11, 2023
Intellectual developmental disorder with autism and macrocephaly1Jun 15, 2023
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Jun 7, 2024
Intellectual disability, X-linked 901Jun 14, 2024
Intellectual disability, X-linked syndromic, Turner type1May 15, 2023
Intellectual disability, autosomal dominant 452Apr 19, 2023
Intellectual disability, autosomal recessive 11May 3, 2023
Intellectual disability, autosomal recessive 651Dec 22, 2023
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Jun 27, 2024
Intellectual disability-strabismus syndrome1Sep 29, 2022
Interstitial lung disease due to ABCA3 deficiency2Mar 21, 2024
Isovaleryl-CoA dehydrogenase deficiency1May 5, 2023
KBG syndrome3Jul 9, 2024
Koolen-de Vries syndrome2Apr 12, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Mar 27, 2024
Li-Fraumeni syndrome 11Apr 12, 2023
Li-Fraumeni syndrome 21Jun 21, 2024
Lopes-Maciel-Rodan syndrome1Jun 11, 2024
Lynch syndrome 12Jun 7, 2024
Lynch syndrome 41Jun 7, 2024
Lynch syndrome 52Jun 28, 2024
Majeed syndrome1Dec 12, 2023
Malignant hyperthermia, susceptibility to, 11Nov 9, 2023
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Dec 8, 2022
Menke-Hennekam syndrome 11Feb 14, 2023
Microcephalic primordial dwarfism, Alazami type1Jun 15, 2023
Monocytopenia with susceptibility to infections1Jun 28, 2024
Monosomy 7 myelodysplasia and leukemia syndrome 11Jun 12, 2024
Multiple endocrine neoplasia, type 11Apr 26, 2024
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Feb 28, 2024
Neurofibromatosis, type 12Jun 12, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 51Mar 24, 2023
O'Donnell-Luria-Rodan syndrome1Aug 15, 2022
Odonto-onycho-dermal dysplasia1Jun 20, 2024
Oroticaciduria1Jan 16, 2024
Osteogenesis imperfecta type I1Jul 15, 2022
Pancreatic agenesis 21Feb 12, 2023
Pancreatic cancer, susceptibility to, 22Jun 10, 2024
Parenti-mignot neurodevelopmental syndrome1Feb 2, 2024
Peroxisome biogenesis disorder 1A (Zellweger)1Oct 16, 2023
Piebaldism1Nov 9, 2023
Polycystic kidney disease 23Jun 12, 2024
Polycystic kidney disease, adult type6Mar 19, 2024
Primary ciliary dyskinesia 111Aug 25, 2022
Primary ciliary dyskinesia 141Aug 25, 2022
Primary ciliary dyskinesia 201Jan 22, 2024
Primary ciliary dyskinesia 211Jun 8, 2023
Primary ciliary dyskinesia 251Aug 15, 2023
Primary ciliary dyskinesia 34Apr 4, 2024
Primary ciliary dyskinesia 73Sep 21, 2023
Primary ciliary dyskinesia 91Jan 30, 2024
Protoporphyria, erythropoietic, 11Aug 2, 2023
Pulmonary hypertension, primary, 11Jun 11, 2024
SHORT syndrome1Sep 14, 2023
STING-associated vasculopathy with onset in infancy1Aug 31, 2022
Severe X-linked myotubular myopathy1Apr 28, 2023
Severe myoclonic epilepsy in infancy1Nov 30, 2023
Sialidosis type 21Jul 8, 2024
Spinocerebellar ataxia 481Jun 11, 2024
Spondylocostal dysostosis 1, autosomal recessive1Jun 28, 2023
Stuve-Wiedemann syndrome 24Aug 9, 2023
Sucrase-isomaltase deficiency1Mar 24, 2023
Telangiectasia, hereditary hemorrhagic, type 21Jan 20, 2023
Tuberous sclerosis 11Jul 5, 2024
Tuberous sclerosis 21Jul 2, 2024
Usmani-Riazuddin syndrome, autosomal recessive1Jul 24, 2023
Waardenburg syndrome type 11Dec 6, 2023
Waardenburg syndrome type 4A1May 28, 2024
Wilson disease1Jun 5, 2024
X-linked Alport syndrome1Dec 6, 2023
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1Jun 26, 2023