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Institute of Immunology and Genetics Kaiserslautern, IIG

General information

Institute of Immunology and Genetics Kaiserslautern, IIG

Pfaffplatz 10
Kaiserslautern
Rheinland-Pfalz
Germany - 67655
https://immungenetik-kl.de/?lang=en
Organization ID: 508836

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 108

Gene

GeneSubmissionsLast Updated
ABCB41Feb 9, 2024
ABCB71Apr 25, 2024
ACTA12Mar 26, 2024
ADAMTS131Mar 26, 2024
AP4B11Feb 9, 2024
APOA11Apr 25, 2024
APOA1-AS1Apr 25, 2024
ASH1L1Apr 25, 2024
BICD21Apr 25, 2024
BRCA12Feb 9, 2024
BRCA21Apr 25, 2024
BRIP11Mar 26, 2024
CC2D2A1Apr 25, 2024
CHD21Feb 9, 2024
CHD31Mar 26, 2024
CHEK21Apr 25, 2024
CLCN31Apr 25, 2024
COL1A11Apr 25, 2024
COL1A21Feb 9, 2024
COL5A21Apr 25, 2024
CREBBP2Apr 25, 2024
DCX1Apr 25, 2024
DVL11Mar 26, 2024
DYRK1A1Feb 9, 2024
EED1Apr 25, 2024
EP3001Apr 25, 2024
FBXO111Apr 25, 2024
FLNB1Apr 25, 2024
FLNC1Feb 9, 2024
FTSJ11Feb 9, 2024
GJB11Feb 9, 2024
GNAO11Apr 25, 2024
HFE1Mar 26, 2024
HFE-AS11Mar 26, 2024
IQSEC21Feb 9, 2024
ITGA71Mar 26, 2024
JMJD81Mar 26, 2024
KCNQ51Feb 9, 2024
KIDINS2201Apr 25, 2024
KMT5B1Apr 25, 2024
LDLR1Feb 9, 2024
LMNA2Apr 25, 2024
LOC1268064201Apr 25, 2024
LZTR11Mar 26, 2024
MAP1B1Apr 25, 2024
MECP21Feb 9, 2024
MME2Apr 25, 2024
MORC21Apr 25, 2024
MYBPC31Apr 25, 2024
MYO5A2Mar 26, 2024
MYO61Feb 9, 2024
NALCN1Jan 25, 2024
NEB2Apr 25, 2024
NSD11Feb 9, 2024
NSDHL1Jan 19, 2024
OPA12Feb 9, 2024
PAH2Apr 25, 2024
PALB21Feb 9, 2024
PEX62Mar 26, 2024
PHGDH2Apr 25, 2024
PKD12Mar 26, 2024
PMP221Apr 25, 2024
RAB33B1Jan 25, 2024
RAD51C1Feb 9, 2024
RIF11Apr 25, 2024
RPGR1Apr 25, 2024
RUBCN1Feb 9, 2024
RYR21Apr 25, 2024
SATB12Apr 25, 2024
SATB22Apr 25, 2024
SCAF41Feb 9, 2024
SCN11A1Mar 26, 2024
SCN1A2Apr 25, 2024
SCN2A1Feb 9, 2024
SCN5A3Mar 26, 2024
SERPINA12Mar 26, 2024
SETD51Apr 25, 2024
SHANK21Feb 9, 2024
SLC22A52Feb 9, 2024
SMARCA21Feb 9, 2024
SMC1A1Feb 9, 2024
SON1Mar 26, 2024
SORD2Mar 26, 2024
SOX52Apr 25, 2024
STUB11Mar 26, 2024
TNNT21Mar 26, 2024
TSEN541Mar 26, 2024
TTN3Apr 25, 2024
TTN-AS13Apr 25, 2024
TUBB4A1Apr 25, 2024
VWF1Mar 26, 2024

Condition

NameSubmissionsLast Updated
Actin accumulation myopathy2Mar 26, 2024
Alpha-1-antitrypsin deficiency2Mar 26, 2024
Autism, susceptibility to, 171Feb 9, 2024
Autosomal dominant Robinow syndrome 21Mar 26, 2024
Autosomal dominant nonsyndromic hearing loss 221Feb 9, 2024
Autosomal dominant optic atrophy classic form2Feb 9, 2024
Autosomal recessive spinocerebellar ataxia 151Feb 9, 2024
Breast-ovarian cancer, familial, susceptibility to, 12Feb 9, 2024
Breast-ovarian cancer, familial, susceptibility to, 31Feb 9, 2024
Breast-ovarian cancer, familial, susceptibility to, 51Feb 9, 2024
Brugada syndrome 12Mar 26, 2024
CK syndrome1Jan 19, 2024
COACH syndrome 21Apr 25, 2024
Catecholaminergic polymorphic ventricular tachycardia 11Apr 25, 2024
Charcot-Marie-Tooth disease X-linked dominant 11Feb 9, 2024
Charcot-Marie-Tooth disease axonal type 2T2Apr 25, 2024
Charcot-Marie-Tooth disease axonal type 2Z1Apr 25, 2024
Charcot-Marie-Tooth disease type 1E1Apr 25, 2024
Charcot-Marie-Tooth disease, type IA1Apr 25, 2024
Cholestasis, intrahepatic, of pregnancy, 31Feb 9, 2024
Chromosome 2q32-q33 deletion syndrome2Apr 25, 2024
Cohen-Gibson syndrome1Apr 25, 2024
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21Feb 9, 2024
Congenital muscular dystrophy due to LMNA mutation1Apr 25, 2024
Congenital muscular dystrophy due to integrin alpha-7 deficiency1Mar 26, 2024
Congenital muscular hypertrophy-cerebral syndrome1Feb 9, 2024
Congenital myopathy 2c, severe infantile, autosomal dominant1Mar 26, 2024
DYRK1A-related intellectual disability syndrome1Feb 9, 2024
Dejerine-Sottas disease1Apr 25, 2024
Developmental and epileptic encephalopathy 6B2Apr 25, 2024
Developmental and epileptic encephalopathy 941Feb 9, 2024
Developmental and epileptic encephalopathy, 111Feb 9, 2024
Developmental and epileptic encephalopathy, 171Apr 25, 2024
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Feb 9, 2024
Developmental delay with dysmorphic facies and dental anomalies2Apr 25, 2024
Dilated cardiomyopathy 1A2Apr 25, 2024
Dilated cardiomyopathy 1D1Mar 26, 2024
Dilated cardiomyopathy 1G2Apr 25, 2024
Ehlers-Danlos syndrome, arthrochalasia type2Apr 25, 2024
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Apr 25, 2024
Familial cancer of breast2Apr 25, 2024
Fanconi anemia complementation group N1Feb 9, 2024
Fliedner-Zweier syndrome1Feb 9, 2024
Generalized epilepsy with febrile seizures plus, type 22Apr 25, 2024
Griscelli syndrome type 12Mar 26, 2024
Guillain-Barre syndrome, familial1Apr 25, 2024
Heimler syndrome 22Mar 26, 2024
Hemochromatosis type 11Mar 26, 2024
Hereditary liability to pressure palsies1Apr 25, 2024
Hereditary sensory and autonomic neuropathy type 71Mar 26, 2024
Hereditary spastic paraplegia 471Feb 9, 2024
Hypercholesterolemia, familial, 11Feb 9, 2024
Hypertrophic cardiomyopathy 261Feb 9, 2024
Hypertrophic cardiomyopathy 41Apr 25, 2024
Hypertrophic cardiomyopathy 91Apr 25, 2024
Hypoalphalipoproteinemia, primary, 21Apr 25, 2024
Hypomyelinating leukodystrophy 61Apr 25, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Jan 25, 2024
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Apr 25, 2024
Intellectual disability, X-linked 11Feb 9, 2024
Intellectual disability, X-linked 91Feb 9, 2024
Intellectual disability, autosomal dominant 461Feb 9, 2024
Intellectual disability, autosomal dominant 511Apr 25, 2024
Intellectual disability, autosomal dominant 521Apr 25, 2024
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Apr 25, 2024
Joubert syndrome 91Apr 25, 2024
Kohlschutter-Tonz syndrome-like1Apr 25, 2024
Lamb-Shaffer syndrome2Apr 25, 2024
Larsen syndrome1Apr 25, 2024
Li-Fraumeni syndrome 21Apr 25, 2024
Lissencephaly type 1 due to doublecortin gene mutation1Apr 25, 2024
Long QT syndrome 31Feb 9, 2024
Low phospholipid associated cholelithiasis1Feb 9, 2024
Meckel syndrome, type 61Apr 25, 2024
Menke-Hennekam syndrome 21Apr 25, 2024
Migraine, familial hemiplegic, 32Apr 25, 2024
Nemaline myopathy 22Apr 25, 2024
Neurodevelopmental disorder with hypotonia and brain abnormalities1Apr 25, 2024
Neurodevelopmental disorder with involuntary movements1Apr 25, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 82Mar 26, 2024
Nicolaides-Baraitser syndrome1Feb 9, 2024
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Feb 9, 2024
Osteogenesis imperfecta type I1Apr 25, 2024
Osteogenesis imperfecta type III1Apr 25, 2024
Osteogenesis imperfecta with normal sclerae, dominant form1Apr 25, 2024
Osteogenesis imperfecta, perinatal lethal1Apr 25, 2024
PHGDH deficiency2Apr 25, 2024
Pancreatic cancer, susceptibility to, 31Feb 9, 2024
Periventricular nodular heterotopia 91Apr 25, 2024
Peroxisome biogenesis disorder 4A (Zellweger)2Mar 26, 2024
Peroxisome biogenesis disorder 4B2Mar 26, 2024
Phenylketonuria2Apr 25, 2024
Polycystic kidney disease, adult type2Mar 26, 2024
Pontocerebellar hypoplasia type 2A1Mar 26, 2024
Progressive scapulohumeroperoneal distal myopathy1Mar 26, 2024
Renal carnitine transport defect2Feb 9, 2024
Retinitis pigmentosa 31Apr 25, 2024
Rett syndrome1Feb 9, 2024
Roussy-Lévy syndrome1Apr 25, 2024
Rubinstein-Taybi syndrome due to CREBBP mutations2Apr 25, 2024
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Apr 25, 2024
Schwannomatosis 21Mar 26, 2024
Severe myoclonic epilepsy in infancy2Apr 25, 2024
Smith-McCort dysplasia 21Jan 25, 2024
Snijders Blok-Campeau syndrome1Mar 26, 2024
Sotos syndrome1Feb 9, 2024
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Apr 25, 2024
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1Apr 25, 2024
Spinocerebellar ataxia 481Mar 26, 2024
Upshaw-Schulman syndrome1Mar 26, 2024
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome1Apr 25, 2024
Ventriculomegaly and arthrogryposis1Apr 25, 2024
X-linked sideroblastic anemia with ataxia1Apr 25, 2024
ZTTK syndrome1Mar 26, 2024
von Willebrand disease type 11Mar 26, 2024