Institute of Human Genetics, FAU Erlangen (Friedrich-Alexander-Universität Erlangen-Nürnberg), IoHGE

General information

Institute of Human Genetics, FAU Erlangen, IoHGE
Friedrich-Alexander-Universität Erlangen-Nürnberg
Schwabachanlage 10
Erlangen
Bayern
Germany - 91054
http://www.humangenetik.uk-erlangen.de/
Organization ID: 505150

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 501

Gene

GeneSubmissionsLast Updated
ACTB1Aug 3, 2017
ADGRB32Jan 10, 2019
AEBP11Jun 12, 2018
AHDC11Aug 3, 2017
ALG121Jan 10, 2019
AMMECR11Jan 10, 2019
ANKRD111Aug 3, 2017
ANKS31Jan 10, 2019
ATP6V1B21Aug 3, 2017
ATRX1Aug 3, 2017
BPTF1Aug 3, 2017
BRD41Jan 10, 2019
CASK1Aug 3, 2017
CCDC1201Jan 10, 2019
CEP763Jan 10, 2019
CHD1L1Jan 10, 2019
CHD81Aug 3, 2017
CLGN3Jan 10, 2019
CLIC41Jan 10, 2019
CLIP11Jan 10, 2019
CPE1Aug 22, 2021
CPZ2Jan 10, 2019
DENND4B2Jan 10, 2019
DNAH173Jan 10, 2019
DNAH17-AS11Jan 10, 2019
DPF21Sep 15, 2017
DPRX1Jan 10, 2019
EDEM32Jan 10, 2019
FBRS3Jan 10, 2019
FGF181Jan 10, 2019
FOXC12Mar 6, 2018
FZD22Jan 10, 2019
GABRA11Jul 5, 2016
GABRE1Jan 10, 2019
GNAS1Aug 3, 2017
GREB1L2Jan 10, 2019
GRID21Jun 29, 2020
H2AP1Jan 10, 2019
HKDC13Jan 10, 2019
HNF1B217Jul 7, 2019
HOOK32Jan 10, 2019
IFIH11Aug 3, 2017
IFT812Jan 10, 2019
ITIH62Jan 10, 2019
JAKMIP11Aug 3, 2017
KCND12Jan 10, 2019
KCNQ21Aug 3, 2017
KMT2A1Aug 3, 2017
KRAS1Aug 3, 2017
LAMA57Jan 10, 2019
LOC1019279782Jan 10, 2019
LRRC71Aug 3, 2017
LRRC7-AS11Aug 3, 2017
LZTR12Jan 10, 2019
MACF15Jan 10, 2019
MAOA1Aug 3, 2017
MED121Aug 3, 2017
MED13L2Aug 3, 2017
MED242Jan 10, 2019
MTA31Jan 10, 2019
MXRA52Jan 10, 2019
MYH7B5Jan 10, 2019
N4BP2L21Jan 10, 2019
NAA105Mar 31, 2016
OBSCN3Jan 10, 2019
OSBP1Jan 10, 2019
PDZRN32Jan 10, 2019
PHF202Jan 10, 2019
PIK3C2A1Jan 10, 2019
PLXNA32Jan 10, 2019
POLR2E1Jan 10, 2019
PSMD111Jan 10, 2019
PSMG23Jan 10, 2019
PTPRU3Jan 10, 2019
PUM11Aug 3, 2017
PYGB1Jan 10, 2019
QRICH11Jun 26, 2020
RASA32Jan 10, 2019
RIT11Aug 3, 2017
RNF312Jan 10, 2019
ROS12Jan 10, 2019
RUNX1T11Jan 10, 2019
SETD51Aug 3, 2017
SIN3A1Aug 3, 2017
SLC38A33Jan 10, 2019
SLC7A82Jan 10, 2019
SMARCA51Jan 10, 2019
SRPX2Jan 10, 2019
SYTL51Jan 10, 2019
TCF41Aug 3, 2017
TRAPPC111Aug 3, 2017
TSTD34Jan 10, 2019
TUBA1A112Oct 8, 2018
UBR46Jan 10, 2019
USP243Jan 10, 2019
USP454Jan 10, 2019
USP511Jan 10, 2019
VWCE1Jan 10, 2019
WAC1Aug 3, 2017
WDR61Jan 10, 2019
ZBED41Jan 10, 2019
ZBTB181Aug 3, 2017
ZFC3H12Jan 10, 2019
ZFHX32Jan 10, 2019
ZMYND111Aug 3, 2017
ZMYND81Aug 3, 2017
ZNF2921Aug 3, 2017
ZNF4463Jan 10, 2019
ZNF4492Jan 10, 2019

Condition

NameSubmissionsLast Updated
Aicardi-Goutieres syndrome 71Aug 3, 2017
Alpha thalassemia-X-linked intellectual disability syndrome1Aug 3, 2017
Anterior segment dysgenesis 31Mar 6, 2018
Autism, susceptibility to, 181Aug 3, 2017
Axenfeld-Rieger syndrome type 31Mar 6, 2018
Baraitser-Winter syndrome 11Aug 3, 2017
Blakemore-Durmaz-Vasileiou (BDV) syndrome1Aug 22, 2021
Brunner syndrome1Aug 3, 2017
Coffin-Siris syndrome 11Sep 15, 2017
Desanto-shinawi syndrome1Aug 3, 2017
Early infantile epileptic encephalopathy 71Aug 3, 2017
Ehlers-Danlos syndrome, classic-like, 21Jun 12, 2018
Epileptic encephalopathy, early infantile, 191Jul 5, 2016
FG syndrome 11Aug 3, 2017
Intellectual disability6Aug 3, 2017
Intellectual disability, mild1Jun 26, 2020
KBG syndrome1Aug 3, 2017
Limb-girdle muscular dystrophy, type 2S1Aug 3, 2017
Lissencephaly 31Aug 3, 2017
Mental retardation and distinctive facial features with or without cardiac defects2Aug 3, 2017
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Aug 3, 2017
Mental retardation, autosomal dominant 221Aug 3, 2017
Mental retardation, autosomal dominant 231Aug 3, 2017
Mental retardation, autosomal dominant 301Aug 3, 2017
N-terminal acetyltransferase deficiency5Mar 31, 2016
Noonan syndrome 31Aug 3, 2017
Noonan syndrome 81Aug 3, 2017
Ohdo syndrome, X-linked1Aug 3, 2017
Pitt-Hopkins syndrome1Aug 3, 2017
Pseudohypoparathyroidism1Aug 3, 2017
Pseudopseudohypoparathyroidism1Aug 3, 2017
Renal cysts and diabetes syndrome217Jul 7, 2019
Short stature129Jan 10, 2019
Spinocerebellar ataxia, autosomal recessive 181Jun 29, 2020
Tubulinopathies111Oct 8, 2018
Wiedemann-Steiner syndrome1Aug 3, 2017
Witteveen-kolk syndrome1Aug 3, 2017
X-linked mental retardation with marfanoid habitus syndrome1Aug 3, 2017
Xia-Gibbs syndrome1Aug 3, 2017
Zimmermann-Laband syndrome 21Aug 3, 2017
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