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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: 646

Gene

GeneSubmissionsLast Updated
ABCC91May 7, 2024
ACTB1Aug 3, 2017
ACTG11Jun 12, 2024
ADGRB32Jan 10, 2019
ADGRL11Nov 29, 2023
ADGRL1-AS11Nov 29, 2023
AEBP11Jun 12, 2018
AFF41Oct 13, 2023
AHDC11Aug 3, 2017
AKT31May 16, 2023
ALG121Jan 10, 2019
AMMECR11Jan 10, 2019
ANKRD112Apr 19, 2023
ANKRD171Apr 25, 2023
ANKS31Jan 10, 2019
ANOS11Nov 27, 2023
APC1Aug 26, 2024
AR1Apr 17, 2023
ARID1B1Mar 13, 2024
ATL11Jan 22, 2024
ATM1Nov 22, 2023
ATP6V1B21Aug 3, 2017
ATRX1Aug 3, 2017
AUTS21Mar 21, 2023
BAP11Jan 2, 2024
BARD11Sep 19, 2023
BCL11A1Apr 15, 2024
BPTF1Aug 3, 2017
BRCA14Jan 17, 2024
BRCA210Sep 25, 2024
BRD41Jan 10, 2019
C11orf651Nov 22, 2023
CACNA1A1Feb 9, 2024
CALM21May 1, 2023
CASK1Aug 3, 2017
CCDC1201Jan 10, 2019
CCM21Sep 23, 2024
CEP763Jan 10, 2019
CHD1L1Jan 10, 2019
CHD31Sep 8, 2023
CHD81Aug 3, 2017
CHEK24Jan 8, 2024
CLGN3Jan 10, 2019
CLIC41Jan 10, 2019
CLIP11Jan 10, 2019
CNOT31Jun 7, 2023
CPE1Aug 22, 2021
CPZ2Jan 10, 2019
CREBBP1Sep 28, 2023
CSNK2B1Mar 12, 2024
CTBP11Apr 23, 2024
CTBP1-AS1Apr 23, 2024
CYFIP21Apr 3, 2024
DDX231Apr 17, 2024
DENND4B2Jan 10, 2019
DIAPH11Jan 26, 2024
DICER12Mar 20, 2024
DNAH173Jan 10, 2019
DNAH17-AS11Jan 10, 2019
DPF21Sep 15, 2017
DPRX1Jan 10, 2019
DSP1Oct 25, 2023
EDEM32Jan 10, 2019
EHMT12Jun 20, 2023
ERF1Jan 12, 2024
ETV61Apr 9, 2024
FBRS3Jan 10, 2019
FGF181Jan 10, 2019
FGFR31Aug 26, 2024
FOXC12Mar 6, 2018
FRMPD42Oct 1, 2024
FZD22Jan 10, 2019
GABRA11Jul 5, 2016
GABRA21Feb 27, 2024
GABRB21Mar 21, 2023
GABRD1Jun 20, 2023
GABRE1Jan 10, 2019
GNAS1Aug 3, 2017
GREB1L2Jan 10, 2019
GRIA31Apr 18, 2024
GRID21Jun 29, 2020
GRIN2B1Aug 1, 2023
H2AP1Jan 10, 2019
HIVEP21Mar 8, 2023
HKDC13Jan 10, 2019
HNF1B217Jul 7, 2019
HNRNPU1Jun 1, 2023
HOOK32Jan 10, 2019
HPGD1Apr 25, 2023
IFIH12Nov 14, 2023
IFT812Jan 10, 2019
ITIH62Jan 10, 2019
JAKMIP11Aug 3, 2017
KANSL11Sep 7, 2023
KAT6B1Sep 3, 2024
KCNB11Aug 3, 2023
KCNC21Mar 13, 2024
KCND12Jan 10, 2019
KCNQ21Aug 3, 2017
KDM4B1Mar 26, 2024
KDM6A2Sep 30, 2024
KMT2A1Aug 3, 2017
KMT2B1Oct 20, 2023
KRAS1Aug 3, 2017
LAMA57Jan 10, 2019
LENG11Jun 7, 2023
LMNA1Aug 21, 2024
LOC1019275212Jan 10, 2019
LOC1073033401Sep 25, 2023
LOC1220568181Jan 10, 2019
LOC1268056411Jan 10, 2019
LOC1268064621Jun 20, 2023
LOC1268609501Jan 10, 2019
LOC12686254930Jul 7, 2019
LOC1299967831Aug 21, 2023
LOC1300092661Apr 17, 2023
LOC1300670161Jan 10, 2019
LRRC71Aug 3, 2017
LRRC7-AS11Aug 3, 2017
LY6G5B1Mar 12, 2024
LZTR12Jan 10, 2019
MACF15Jan 10, 2019
MAF1Nov 14, 2023
MAGED21Aug 14, 2023
MAOA1Aug 3, 2017
MAP4K41Sep 7, 2023
MAPK8IP31Aug 18, 2023
MECP22Aug 23, 2024
MED121Aug 3, 2017
MED131Sep 25, 2024
MED13L2Aug 3, 2017
MED242Jan 10, 2019
MLC12Mar 19, 2024
MSH22Jan 3, 2024
MTA31Jan 10, 2019
MXRA52Jan 10, 2019
MYBPC31Apr 10, 2024
MYH7B5Jan 10, 2019
N4BP2L21Jan 10, 2019
NAA105Mar 31, 2016
NAA151Sep 26, 2023
NF12Jan 24, 2024
NR4A21Aug 21, 2023
NSD11Sep 30, 2024
NSD21Apr 16, 2024
OBI1-AS11Mar 29, 2023
OBSCN3Jan 10, 2019
OCRL1Mar 26, 2024
OSBP1Jan 10, 2019
PAK11Jun 1, 2023
PALB21Oct 19, 2023
PDHA11Sep 29, 2023
PDZRN32Jan 10, 2019
PHF202Jan 10, 2019
PIK3C2A1Jan 10, 2019
PIK3CA1Jun 1, 2023
PLXNA32Jan 10, 2019
POGZ1Sep 7, 2023
POLE2Apr 17, 2023
POLR2E1Jan 10, 2019
POU4F11Mar 29, 2023
PPM1D1Mar 6, 2023
PRR121Mar 15, 2024
PSMD111Jan 10, 2019
PSMG23Jan 10, 2019
PTCH11Sep 26, 2023
PTEN1May 30, 2023
PTPN111Feb 15, 2023
PTPRU3Jan 10, 2019
PUM11Aug 3, 2017
PYGB1Jan 10, 2019
QRICH11Jun 26, 2020
RAD51C1Feb 7, 2024
RAD51D2Sep 3, 2024
RAD51L3-RFFL2Sep 3, 2024
RAI11May 11, 2023
RARB1Jan 22, 2024
RASA32Jan 10, 2019
RELA1Mar 6, 2023
RFX71Sep 8, 2023
RIT11Aug 3, 2017
RNF312Jan 10, 2019
RORA1Mar 6, 2023
RORA-AS11Mar 6, 2023
ROS12Jan 10, 2019
RUNX1T11Jan 10, 2019
SALL11Mar 6, 2023
SAMHD11Nov 14, 2023
SATB21Jun 20, 2023
SETD1B1Mar 20, 2024
SETD52Sep 27, 2023
SIN3A1Aug 3, 2017
SLC38A33Jan 10, 2019
SLC7A82Jan 10, 2019
SMARCA42Mar 21, 2023
SMARCA51Jan 10, 2019
SNHG141Apr 25, 2023
SPRED12Jul 8, 2024
SPTB1Jan 22, 2024
SRD5A32Mar 11, 2022
SRPX2Jan 10, 2019
STXBP12Aug 1, 2023
SYNGAP12Oct 13, 2023
SYNGAP1-AS12Oct 13, 2023
SYTL51Jan 10, 2019
TCF202Mar 12, 2024
TCF41Aug 3, 2017
TFE31Jun 20, 2023
TRAPPC111Aug 3, 2017
TRIM81Oct 13, 2023
TRIP121Oct 25, 2023
TSC11Aug 12, 2024
TSTD34Jan 10, 2019
TUBA1A114Dec 27, 2023
UBE3A1Apr 25, 2023
UBR46Jan 10, 2019
USP243Jan 10, 2019
USP454Jan 10, 2019
USP511Jan 10, 2019
VHL1Sep 25, 2023
VWCE1Jan 10, 2019
WAC1Aug 3, 2017
WDR61Jan 10, 2019
WNT10A1Apr 26, 2023
XPNPEP32May 2, 2023
ZBED41Jan 10, 2019
ZBTB181Aug 3, 2017
ZFC3H12Jan 10, 2019
ZFHX32Jan 10, 2019
ZFHX3-AS12Jan 10, 2019
ZMIZ11Sep 22, 2023
ZMYND111Aug 3, 2017
ZMYND81Aug 3, 2017
ZNF2922Aug 21, 2023
ZNF4463Jan 10, 2019
ZNF4492Jan 10, 2019

Condition

NameSubmissionsLast Updated
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Aug 3, 2017
Achondroplasia1Aug 26, 2024
Aicardi-Goutieres syndrome 71Aug 3, 2017
Alpha thalassemia-X-linked intellectual disability syndrome1Aug 3, 2017
Angelman syndrome1Apr 25, 2023
Anterior segment dysgenesis 31Mar 6, 2018
Arrhythmogenic right ventricular dysplasia 81Oct 25, 2023
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset1Mar 29, 2023
Autosomal recessive limb-girdle muscular dystrophy type R181Aug 3, 2017
Autosomal recessive spinocerebellar ataxia 181Jun 29, 2020
Axenfeld-Rieger syndrome type 31Mar 6, 2018
Baraitser-Winter syndrome 11Aug 3, 2017
Baraitser-winter syndrome 21Jun 12, 2024
Bartter disease type 51Aug 14, 2023
Blakemore-Durmaz-Vasileiou (BDV) syndrome1Aug 22, 2021
Blepharophimosis - intellectual disability syndrome, MKB type1Aug 3, 2017
Brunner syndrome1Aug 3, 2017
CLOVES syndrome1Jun 1, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Aug 3, 2017
Cerebral cavernous malformation 21Sep 23, 2024
Chopra-Amiel-Gordon syndrome1Apr 25, 2023
Clark-Baraitser syndrome1Oct 25, 2023
Coffin-Siris syndrome 12Mar 13, 2024
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Oct 13, 2023
Cowden syndrome 11May 30, 2023
Craniosynostosis 41Jan 12, 2024
DeSanto-Shinawi syndrome due to WAC point mutation1Aug 3, 2017
Developmental and epileptic encephalopathy 1031Mar 13, 2024
Developmental and epileptic encephalopathy, 191Jul 5, 2016
Developmental and epileptic encephalopathy, 261Aug 3, 2023
Developmental and epileptic encephalopathy, 42Aug 1, 2023
Developmental and epileptic encephalopathy, 421Feb 9, 2024
Developmental and epileptic encephalopathy, 541Jun 1, 2023
Developmental and epileptic encephalopathy, 71Aug 3, 2017
Developmental and epileptic encephalopathy, 781Feb 27, 2024
Developmental delay with variable intellectual impairment and behavioral abnormalities1Mar 12, 2024
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders1Nov 29, 2023
Dias-Logan syndrome1Apr 15, 2024
Dilated cardiomyopathy 1A1Aug 21, 2024
Dystonia 28, childhood-onset1Oct 20, 2023
Ehlers-Danlos syndrome, classic-like, 21Jun 12, 2018
FG syndrome 11Aug 3, 2017
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2Apr 17, 2023
Familial adenomatous polyposis 11Aug 26, 2024
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Oct 13, 2023
Hereditary spherocytosis type 21Jan 22, 2024
Hypertrichotic osteochondrodysplasia Cantu type1May 7, 2024
Hypertrophic cardiomyopathy 41Apr 10, 2024
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11Apr 25, 2023
Hypogonadotropic hypogonadism 1 with or without anosmia1Nov 27, 2023
Hypospadias 1, X-linked1Apr 17, 2023
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Apr 23, 2024
Intellectual developmental disorder 611Sep 25, 2024
Intellectual developmental disorder with autism and macrocephaly1Aug 3, 2017
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Mar 6, 2023
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism1Aug 21, 2023
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Mar 6, 2023
Intellectual developmental disorder with seizures and language delay1Mar 20, 2024
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Jun 7, 2023
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies1Jun 20, 2023
Intellectual developmental disorder, autosomal dominant 641Aug 21, 2023
Intellectual developmental disorder, autosomal dominant 652Mar 26, 2024
Intellectual disability6Aug 3, 2017
Intellectual disability, X-linked 1042Oct 1, 2024
Intellectual disability, autosomal dominant 221Aug 3, 2017
Intellectual disability, autosomal dominant 301Aug 3, 2017
Intellectual disability, autosomal dominant 431Mar 8, 2023
Intellectual disability, autosomal dominant 52Oct 13, 2023
Intellectual disability, mild1Jun 26, 2020
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2Sep 27, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Sep 7, 2023
KBG syndrome2Apr 19, 2023
Kleefstra syndrome 12Jun 20, 2023
Koolen-de Vries syndrome1Sep 7, 2023
Kury-Isidor syndrome1Jan 2, 2024
Legius syndrome2Jul 8, 2024
Li-Fraumeni syndrome 21Mar 6, 2023
Lissencephaly due to TUBA1A mutation1Aug 3, 2017
Lissencephaly type 32Dec 27, 2023
Long QT syndrome 151May 1, 2023
Lynch syndrome2Jan 3, 2024
Megalencephalic leukoencephalopathy with subcortical cysts 12Mar 19, 2024
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21May 16, 2023
Menke-Hennekam syndrome 11Sep 28, 2023
Mucocutaneous ulceration, chronic1Mar 6, 2023
Nephronophthisis-like nephropathy 12May 2, 2023
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Sep 22, 2023
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Aug 18, 2023
Neurofibromatosis-Noonan syndrome1Jan 24, 2024
Neuroocular syndrome1Mar 15, 2024
Noonan syndrome 11Feb 15, 2023
Noonan syndrome 31Aug 3, 2017
Noonan syndrome 81Aug 3, 2017
Ogden syndrome5Mar 31, 2016
Ovarian neoplasm1Feb 25, 2022
Pitt-Hopkins syndrome1Aug 3, 2017
Poirier-Bienvenu neurodevelopmental syndrome1Mar 12, 2024
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1Jan 26, 2024
Pseudohypoparathyroidism1Aug 3, 2017
Pseudopseudohypoparathyroidism1Aug 3, 2017
Pyruvate dehydrogenase E1-alpha deficiency1Sep 29, 2023
Rauch-Steindl syndrome1Apr 16, 2024
Renal cysts and diabetes syndrome217Jul 7, 2019
Rett syndrome2Aug 23, 2024
SIN3A-related intellectual disability syndrome due to a point mutation1Aug 3, 2017
SRD5A3-congenital disorder of glycosylation2Mar 11, 2022
Short stature129Jan 10, 2019
Smith-Magenis syndrome1May 11, 2023
Snijders Blok-Campeau syndrome1Sep 8, 2023
Sotos syndrome1Sep 30, 2024
Syndromic X-linked intellectual disability 941Apr 18, 2024
Syndromic X-linked intellectual disability Najm type1Aug 3, 2017
Thrombocytopenia 51Apr 9, 2024
Tooth agenesis, selective, 41Apr 26, 2023
Townes-Brocks syndrome 11Mar 6, 2023
Tuberous sclerosis 11Aug 12, 2024
Tubulinopathy111Oct 8, 2018
Von Hippel-Lindau syndrome1Sep 25, 2023
Wiedemann-Steiner syndrome1Aug 3, 2017
X-linked intellectual disability with marfanoid habitus1Aug 3, 2017
Zimmermann-Laband syndrome 21Aug 3, 2017
not provided48Sep 30, 2024