Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, CHGLD

General information

Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, CHGLD

Lochhamer Strasse 29
Martinsried
Bayern
Germany - 82152
http://medizinische-genetik.de/index.php?id=15866
Organization ID: 505944

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 536

Gene

GeneSubmissionsLast Updated
ABCA34Apr 17, 2020
ACTB2Jan 22, 2018
ACTN21Sep 28, 2018
ADGRV13Sep 28, 2018
ADNP1Nov 17, 2016
AHDC11Jul 3, 2019
AKAP92Jul 3, 2019
ANK21Jul 2, 2018
ANKRD111Oct 1, 2020
ARHGEF101Oct 8, 2019
ARID1B2Jul 1, 2020
ASXL31Sep 28, 2018
ATP1A21Dec 19, 2018
ATRX1Jul 2, 2018
AVPR21Nov 17, 2016
B9D21Oct 8, 2019
BAG32Oct 8, 2019
BBS11Apr 17, 2020
BRAT11Sep 28, 2018
C10orf1051Jul 2, 2018
CACNA1A7Jul 1, 2020
CACNA1C20Oct 1, 2020
CACNA1C-AS17Mar 6, 2020
CACNA1G2Oct 8, 2019
CACNA1H1Oct 6, 2017
CACNA1S1Jul 3, 2019
CACNA2D12Jul 3, 2019
CACNB21Apr 17, 2020
CALM21Jul 3, 2017
CASQ23Apr 10, 2017
CAV32Mar 6, 2020
CC2D2A1Apr 4, 2019
CDH232Jul 2, 2018
CDK5RAP21Oct 6, 2017
CEP2902Apr 17, 2020
CFTR3Apr 4, 2019
CHD21Apr 4, 2019
CHD72Sep 28, 2018
CHD82Mar 6, 2020
CLCN11Oct 8, 2019
CLCN21Sep 28, 2018
COL11A11Jan 22, 2018
COL11A23Jul 1, 2020
COL1A14Jan 22, 2018
COL1A22Apr 4, 2019
COL2A11Jan 22, 2018
COL4A36Apr 17, 2020
COL4A41Apr 17, 2020
COL4A55Mar 6, 2020
CREBBP3Mar 6, 2020
CRPPA1Apr 6, 2018
CTNNB13Oct 1, 2020
DDOST1Apr 4, 2019
DDX3X2Apr 4, 2019
DEAF11Apr 10, 2017
DEPDC52Sep 28, 2018
DIAPH31Oct 8, 2019
DIAPH3-AS11Oct 8, 2019
DNM11Apr 6, 2018
DNMT3A1Oct 1, 2020
DSP1Oct 6, 2017
DYNC2H12Jul 3, 2019
DYNC2I21Mar 6, 2020
DYRK1A1Jul 3, 2019
EBF31Jul 2, 2018
EED1Oct 1, 2020
EHMT11Oct 1, 2020
EP3001Oct 8, 2019
EYS1Jul 3, 2019
FGD11Mar 6, 2020
FOXF11Jul 2, 2018
FOXG11Oct 1, 2020
FOXH11Jul 3, 2019
FOXP12Oct 8, 2019
FTSJ11Apr 10, 2017
GARS11Oct 8, 2019
GATAD2B2Apr 4, 2019
GJB11Oct 8, 2019
GJB21Apr 6, 2018
GLI31Apr 17, 2020
GPD1L1Jul 2, 2018
GRIK21Apr 4, 2019
GRIN2A1Dec 19, 2018
GRIN2B2Oct 1, 2020
HBA-LCR2Oct 1, 2020
HCN43Jul 3, 2019
HDAC82Mar 6, 2020
IQSEC22Oct 1, 2020
JAG11Apr 10, 2017
KAT6A1Sep 28, 2018
KCNA11Apr 10, 2017
KCND31Jul 2, 2018
KCNE13Jul 3, 2019
KCNE23Jul 3, 2019
KCNE32Apr 17, 2020
KCNH11Jul 2, 2018
KCNH246Oct 1, 2020
KCNJ181Jul 3, 2017
KCNJ29Oct 1, 2020
KCNJ52Mar 6, 2020
KCNJ81Apr 10, 2017
KCNQ149Oct 1, 2020
KCNQ1-AS11Jul 2, 2018
KCNQ23Oct 8, 2019
KCNQ41Oct 1, 2020
KCNQ51Oct 1, 2020
KDM5C1Jan 22, 2018
KDM6A1Oct 1, 2020
KIF1A3Oct 1, 2020
KIFC21Jul 3, 2019
KMT2A1Oct 6, 2017
KMT2D1Sep 28, 2018
LAMA21Apr 6, 2018
LDB31Apr 10, 2017
LMNA2Jan 22, 2018
LOC1027240581Dec 19, 2018
LOC1053710493Apr 17, 2020
LOC1101212692Apr 4, 2019
LOXHD11Jul 3, 2017
LZTR13Jul 3, 2017
MBD51Jul 2, 2018
MECP22Jul 1, 2020
MED131Sep 28, 2018
MED13L2Oct 1, 2020
MERTK1Apr 6, 2018
MFF-DT6Apr 17, 2020
MME1Oct 8, 2019
MRAS1Jul 2, 2018
MYBPC33Apr 4, 2019
MYH62Jul 3, 2019
MYH72Jul 2, 2018
MYL21Dec 22, 2016
MYO15A1Jul 2, 2018
MYO161Dec 19, 2018
NALCN1Apr 6, 2018
NIPBL1Oct 6, 2017
NKX2-11Apr 4, 2019
NOTCH21Oct 8, 2019
NOTCH31Apr 17, 2020
NPRL21Dec 19, 2018
NPRL32Oct 1, 2020
NRXN13Apr 4, 2019
NSD13Apr 4, 2019
OFD11Apr 6, 2018
OTOA1Oct 8, 2019
OTOG1Oct 1, 2020
PBX11Sep 28, 2018
PCDH193Jul 3, 2019
PDZD71Jul 2, 2018
PIGG1Sep 28, 2018
PIK3R21Dec 19, 2018
PKD121Apr 17, 2020
PKD24Apr 17, 2020
PKHD12Oct 8, 2019
POU3F41Jul 2, 2018
PPM1D1Dec 19, 2018
PQBP11Apr 4, 2019
PROS11Oct 8, 2019
PSEN11Jul 3, 2019
PTCHD11Apr 10, 2017
PTEN1Jul 2, 2018
PUF601Apr 6, 2018
PURA1Jul 2, 2018
RBM202Apr 6, 2018
RELN1Jul 2, 2018
RYR11Oct 6, 2017
RYR229Oct 1, 2020
SCN10A3Sep 28, 2018
SCN1A2Dec 19, 2018
SCN2A4Oct 1, 2020
SCN4A1Jan 22, 2018
SCN4B3Jul 3, 2019
SCN5A50Oct 1, 2020
SCN8A2Mar 6, 2020
SETD52Oct 8, 2019
SFTA31Apr 4, 2019
SFTPC1Apr 17, 2020
SLC12A31Nov 17, 2016
SLC1A21Oct 1, 2020
SLC2A11Sep 28, 2018
SLC4A11Apr 6, 2018
SLC6A11Apr 4, 2019
SLC6A1-AS11Apr 4, 2019
SMARCC21Oct 1, 2020
SNHG141Jul 3, 2019
SNTA14Jul 2, 2018
SOS22Jan 22, 2018
SOX51Oct 1, 2020
SPTAN12Apr 4, 2019
SSUH21Apr 4, 2019
STRC3Jul 1, 2020
SYN11Oct 8, 2019
SYNE11Jan 22, 2018
SYNGAP11Mar 6, 2020
TAZ1Dec 22, 2016
TBCEL-TECTA1Oct 8, 2019
TBX41Nov 17, 2016
TCF121Jul 3, 2019
TCF42Dec 19, 2018
TECTA1Oct 8, 2019
TMEM671Apr 17, 2020
TMPRSS31Jul 1, 2020
TRIO1Oct 1, 2020
TRPC61Apr 17, 2020
TRPM43Jul 3, 2019
TTN11Apr 4, 2019
TTN-AS18Apr 4, 2019
TUBB2A1Oct 1, 2020
UBE3A1Jul 3, 2019
USH2A3Oct 1, 2020
USH2A-AS21Oct 1, 2020
WNK11Jul 3, 2017
ZBTB181Jan 5, 2021
ZDHHC241Apr 17, 2020
ZEB23Jul 1, 2020
ZIC31Nov 17, 2016

Condition

NameSubmissionsLast Updated
Aarskog syndrome1Mar 6, 2020
Alagille syndrome 11Apr 10, 2017
Alagille syndrome 21Oct 8, 2019
Alpha thalassemia-X-linked intellectual disability syndrome1Jul 2, 2018
Alport syndrome1Apr 10, 2017
Alport syndrome 1, X-linked recessive5Mar 6, 2020
Alport syndrome, autosomal recessive3Apr 17, 2020
Alzheimer disease, type 31Jul 3, 2019
Andersen Tawil syndrome9Oct 1, 2020
Angelman syndrome1Jul 3, 2019
Arrhythmogenic right ventricular dysplasia 81Oct 6, 2017
Atrial septal defect 31Jul 3, 2019
Autism, susceptibility to, 182Mar 6, 2020
Autism, susceptibility to, X-linked 41Apr 10, 2017
Autosomal dominant nonsyndromic deafness 2A1Oct 1, 2020
Autosomal recessive polycystic kidney disease2Oct 8, 2019
Bainbridge-Ropers syndrome1Sep 28, 2018
Baraitser-Winter syndrome 12Jan 22, 2018
Bardet-Biedl syndrome 11Apr 17, 2020
Benign familial hematuria3Apr 17, 2020
Benign familial neonatal seizures 11Jan 22, 2018
Brugada syndrome6Jul 3, 2019
Brugada syndrome 126Oct 1, 2020
Brugada syndrome 21Jul 2, 2018
Brugada syndrome 31Jul 2, 2018
Brugada syndrome 41Apr 17, 2020
Brugada syndrome 83Jul 3, 2019
Brugada syndrome 91Jul 2, 2018
CDK8-kinase module-associated disorder1Sep 28, 2018
CHARGE association2Sep 28, 2018
Cardiac arrhythmia, ankyrin B-related1Jul 2, 2018
Catecholaminergic polymorphic ventricular tachycardia type 129Oct 1, 2020
Caused by mutation in the tafazzin gene1Dec 22, 2016
Central core myopathy1Oct 6, 2017
Cerebellar ataxia4Oct 8, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11Apr 17, 2020
Charcot-Marie-Tooth disease type 2D1Oct 8, 2019
Charcot-Marie-Tooth disease, axonal, type 2T1Oct 8, 2019
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1Apr 4, 2019
Coffin-Siris syndrome 12Jul 1, 2020
Coffin-Siris syndrome 81Oct 1, 2020
Cognitive impairment with or without cerebellar ataxia1Mar 6, 2020
Cohen-Gibson syndrome1Oct 1, 2020
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Sep 28, 2018
Congenital bilateral aplasia of vas deferens from CFTR mutation1Apr 10, 2017
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Apr 6, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71Apr 6, 2018
Congenital myotonia, autosomal dominant form1Oct 8, 2019
Cornelia de Lange syndrome 11Oct 6, 2017
Cornelia de Lange syndrome 52Mar 6, 2020
Cortical dysplasia, complex, with other brain malformations 51Oct 1, 2020
Craniosynostosis 31Jul 3, 2019
Cystic fibrosis2Apr 4, 2019
Deafness1Jul 3, 2017
Deafness, X-linked 21Jul 2, 2018
Deafness, autosomal dominant 132Jul 1, 2020
Deafness, autosomal dominant 3a1Apr 6, 2018
Deafness, autosomal recessive 122Jul 2, 2018
Deafness, autosomal recessive 162Jul 1, 2020
Deafness, autosomal recessive 18b1Oct 1, 2020
Deafness, autosomal recessive 31Jul 2, 2018
Deafness, autosomal recessive 531Jul 1, 2020
Deafness, autosomal recessive 81Jul 1, 2020
Dilated cardiomyopathy 1A2Jan 22, 2018
Dilated cardiomyopathy 1AA1Sep 28, 2018
Dilated cardiomyopathy 1DD2Apr 6, 2018
Dilated cardiomyopathy 1G11Apr 4, 2019
Dilated cardiomyopathy 1HH2Oct 8, 2019
Early infantile epileptic encephalopathy 114Oct 1, 2020
Early infantile epileptic encephalopathy 131Mar 6, 2020
Early infantile epileptic encephalopathy 52Apr 4, 2019
Early infantile epileptic encephalopathy 72Oct 8, 2019
Early infantile epileptic encephalopathy 93Jul 3, 2019
Epilepsy with grand mal seizures on awakening1Sep 28, 2018
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Oct 8, 2019
Epilepsy, childhood absence 61Oct 6, 2017
Epilepsy, familial focal, with variable foci 12Sep 28, 2018
Epilepsy, familial focal, with variable foci 21Dec 19, 2018
Epilepsy, familial focal, with variable foci 32Oct 1, 2020
Epilepsy, familial temporal lobe, 71Jul 2, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Dec 19, 2018
Epileptic encephalopathy, childhood-onset1Apr 4, 2019
Epileptic encephalopathy, early infantile, 271Jul 2, 2018
Epileptic encephalopathy, early infantile, 311Apr 6, 2018
Epileptic encephalopathy, early infantile, 411Oct 1, 2020
Epileptic encephalopathy, early infantile, 422Apr 4, 2019
Episodic ataxia type 11Apr 10, 2017
Episodic ataxia type 24Jul 1, 2020
Familial hemiplegic migraine type 21Dec 19, 2018
Familial hypertrophic cardiomyopathy 12Jul 2, 2018
Familial hypertrophic cardiomyopathy 101Dec 22, 2016
Familial hypertrophic cardiomyopathy 142Jan 22, 2018
Familial hypertrophic cardiomyopathy 43Apr 4, 2019
Familial hypokalemia-hypomagnesemia1Nov 17, 2016
Febrile seizures, familial, 43Sep 28, 2018
Focal segmental glomerulosclerosis 21Apr 17, 2020
GLUT1 deficiency syndrome 11Sep 28, 2018
Generalized epilepsy with febrile seizures plus, type 21Dec 19, 2018
Greig cephalopolysyndactyly syndrome1Apr 17, 2020
Hearing impairment5Oct 8, 2019
Helsmoortel-Van der Aa Syndrome1Nov 17, 2016
Hereditary sensory and autonomic neuropathy type IIA1Jul 3, 2017
Heterotaxy, visceral, 1, X-linked1Nov 17, 2016
Hypokalemic periodic paralysis 11Jul 3, 2019
Hypotonia, ataxia, and delayed development syndrome1Jul 2, 2018
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Dec 19, 2018
Intellectual disability4Apr 4, 2019
Intellectual disability, autosomal dominant 461Oct 1, 2020
Intellectual disability, autosomal dominant 92Jul 3, 2019
Joubert syndrome 51Jul 3, 2017
Joubert syndrome 91Apr 4, 2019
KBG syndrome1Oct 1, 2020
KCNH1-related phenotype1Jul 2, 2018
Kabuki syndrome 11Sep 28, 2018
Kabuki syndrome 21Oct 1, 2020
Kleefstra syndrome 11Oct 1, 2020
Lamb-shaffer syndrome1Oct 1, 2020
Long QT syndrome1Dec 22, 2016
Long QT syndrome 148Oct 1, 2020
Long QT syndrome 103Jul 3, 2019
Long QT syndrome 112Jul 3, 2019
Long QT syndrome 124Jul 2, 2018
Long QT syndrome 132Mar 6, 2020
Long QT syndrome 151Jul 3, 2017
Long QT syndrome 246Oct 1, 2020
Long QT syndrome 325Oct 1, 2020
Long QT syndrome 53Jul 3, 2019
Long QT syndrome 63Jul 3, 2019
Long QT syndrome 81Oct 1, 2020
Long QT syndrome 92Mar 6, 2020
MYO16-associated developmental delay1Dec 19, 2018
Macrocephaly/autism syndrome1Jul 2, 2018
Marshall syndrome1Jan 22, 2018
Meckel syndrome, type 101Oct 8, 2019
Meckel syndrome, type 31Apr 17, 2020
Meckel syndrome, type 41Apr 17, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Dec 19, 2018
Mental retardation 9, X-linked1Apr 10, 2017
Mental retardation and distinctive facial features with or without cardiac defects2Oct 1, 2020
Mental retardation with language impairment and with or without autistic features2Oct 8, 2019
Mental retardation, X-linked 11Oct 1, 2020
Mental retardation, X-linked 1022Apr 4, 2019
Mental retardation, autosomal dominant 11Jul 2, 2018
Mental retardation, autosomal dominant 182Apr 4, 2019
Mental retardation, autosomal dominant 193Oct 1, 2020
Mental retardation, autosomal dominant 221Jan 5, 2021
Mental retardation, autosomal dominant 232Oct 8, 2019
Mental retardation, autosomal dominant 241Apr 10, 2017
Mental retardation, autosomal dominant 311Jul 2, 2018
Mental retardation, autosomal dominant 321Sep 28, 2018
Mental retardation, autosomal dominant 441Oct 1, 2020
Mental retardation, autosomal dominant 51Mar 6, 2020
Mental retardation, autosomal dominant 61Oct 1, 2020
Mental retardation, autosomal dominant 71Jul 3, 2019
Mental retardation, autosomal recessive 531Sep 28, 2018
Mental retardation, syndromic, Claes-Jensen type, X-linked1Jan 22, 2018
Merosin deficient congenital muscular dystrophy1Apr 6, 2018
Microcephaly1Apr 4, 2019
Mowat-Wilson syndrome3Jul 1, 2020
Myoclonic-atonic epilepsy1Apr 4, 2019
Nephrogenic diabetes insipidus, X-linked1Nov 17, 2016
Noonan syndrome 102Jul 3, 2017
Noonan syndrome 92Jan 22, 2018
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Jul 3, 2019
Orofaciodigital syndrome I1Apr 6, 2018
Osteogenesis imperfecta type I2Apr 10, 2017
Osteogenesis imperfecta type III3Apr 4, 2019
Osteogenesis imperfecta, recessive perinatal lethal1Jan 22, 2018
Paramyotonia congenita of von Eulenburg1Jan 22, 2018
Persistent fetal circulation syndrome1Jul 2, 2018
Pitt-Hopkins syndrome2Dec 19, 2018
Pitt-Hopkins-like syndrome 22Apr 6, 2018
Polycystic kidney disease 24Apr 17, 2020
Polycystic kidney disease, adult type21Apr 17, 2020
Primary autosomal recessive microcephaly 31Oct 6, 2017
Prolonged QT interval2Apr 17, 2020
Pulmonary Hypertension, Primary, 11Nov 17, 2016
Rasopathy2Jul 2, 2018
Retinitis pigmentosa 251Jul 3, 2019
Retinitis pigmentosa 381Apr 6, 2018
Rett syndrome2Jul 1, 2020
Rett syndrome, congenital variant1Oct 1, 2020
Rigidity and multifocal seizure syndrome, lethal neonatal1Sep 28, 2018
Rubinstein-Taybi syndrome 13Mar 6, 2020
Rubinstein-Taybi syndrome 21Oct 8, 2019
Severe myoclonic epilepsy in infancy1Nov 17, 2016
Short QT syndrome 21Sep 28, 2018
Short-rib thoracic dysplasia 11 with or without polydactyly1Mar 6, 2020
Short-rib thoracic dysplasia 3 with or without polydactyly2Jul 3, 2019
Slowed nerve conduction velocity, autosomal dominant1Oct 8, 2019
Sotos syndrome 13Apr 4, 2019
Spastic paraplegia 30, autosomal recessive1Oct 1, 2020
Spherocytosis type 21Apr 6, 2018
Spherocytosis type 41Apr 6, 2018
Spinocerebellar ataxia, autosomal recessive 81Jan 22, 2018
Stickler syndrome type 11Jan 22, 2018
Surfactant metabolism dysfunction, pulmonary, 11Apr 17, 2020
Surfactant metabolism dysfunction, pulmonary, 34Apr 17, 2020
Tatton-Brown-rahman syndrome1Oct 1, 2020
Thrombophilia due to protein S deficiency, autosomal dominant1Oct 8, 2019
Thyrotoxic periodic paralysis 21Jul 3, 2017
Timothy syndrome17Mar 6, 2020
Usher syndrome, type 2A4Oct 1, 2020
Ventricular tachycardia, catecholaminergic polymorphic, 23Apr 10, 2017
Verheij syndrome1Apr 6, 2018
Wiedemann-Steiner syndrome1Oct 6, 2017
Xia-Gibbs syndrome1Jul 3, 2019
short QT syndrome2Jul 3, 2019
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