U.S. flag

An official website of the United States government

Institute for Genomic Statistics and Bioinformatics (University Hospital Bonn), IGSB

General information

Institute for Genomic Statistics and Bioinformatics, IGSB
University Hospital Bonn
Venusberg, Campus 1
Bonn
Nordrhein-Westfalen
Germany - 53127
https://www.ukbonn.de
Organization ID: 507028

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 197

Gene

GeneSubmissionsLast Updated
AGXT1Mar 14, 2022
ALDH18A11Jun 2, 2019
ANKRD115Jun 2, 2019
ARID1A3Jul 9, 2021
ARID1B6Jul 12, 2020
ASPM5Jun 2, 2019
ASXL12Jun 2, 2019
ASXL31Oct 9, 2020
ATM2Jun 17, 2020
ATRX2Jun 7, 2019
BICRA1Dec 2, 2022
BRAF5Jun 2, 2019
C11orf651Jun 17, 2020
CACNA1A1Nov 9, 2020
CAMK2B1Nov 7, 2020
CBL1Jun 2, 2019
CHD74Jun 2, 2019
CHRNE1Jun 17, 2020
CHST31Jun 2, 2019
CLCN41Nov 6, 2020
CLTC1Nov 30, 2020
COL11A11Jun 2, 2019
COL11A21Jun 2, 2019
COL2A12Jun 2, 2019
CPAP1Jun 2, 2019
CREBBP2Jun 2, 2019
CSPP11Jun 17, 2020
CTNND11Oct 21, 2020
DDX3X3Apr 24, 2020
DEPDC51Nov 6, 2020
DHCR72Jun 2, 2019
DNMT3A1Dec 2, 2022
DVL31Jun 2, 2019
DYRK1A2Jun 3, 2020
EFTUD21Jun 2, 2019
EHMT13Oct 9, 2020
EP3003Jul 9, 2020
ERCC44Mar 14, 2022
ERCC81Jul 24, 2020
FBXO111Nov 7, 2020
FGD12Jun 2, 2019
FGFR23Jun 2, 2019
FGFR31Jun 2, 2019
FLNB1Jun 2, 2019
FOXC11Jun 4, 2020
FOXG11Jun 3, 2020
FRMPD41May 17, 2021
GATAD2B1Oct 9, 2020
GLI31Jun 2, 2019
GRIN11Nov 29, 2020
GRIN2B1Jun 3, 2020
HDAC82Jun 2, 2019
HEXA2Jun 17, 2020
HNRNPH21Oct 9, 2020
HUWE11Mar 14, 2022
IRAK1BP11Feb 27, 2021
KANSL11Oct 9, 2020
KAT6B1Nov 7, 2020
KIF71Jun 2, 2019
KMT2A2Jun 2, 2019
KMT2D6Jun 4, 2020
KMT5B1Dec 2, 2022
KRAS1Jun 2, 2019
L2HGDH1Feb 27, 2021
LAMA12Nov 6, 2020
LEMD21Jun 11, 2020
LMNA1Jun 4, 2020
LOC1268631581Jun 2, 2019
LZTR11Nov 7, 2020
MAN2B21Dec 2, 2022
MECP23Jun 2, 2019
MED131Jul 6, 2021
NAA152Mar 14, 2022
NF11Jun 2, 2019
NIPBL1Dec 13, 2021
NOTCH31Jun 2, 2019
NSD11Jun 2, 2019
PAX31Jun 2, 2019
PGAP22Jun 2, 2019
PHIP1Feb 27, 2021
PIGG1Jun 2, 2019
PIGN2Mar 18, 2021
PIGO1Jun 2, 2019
PIGV1Jun 2, 2019
POLR2A1Feb 27, 2021
PPM1D1Jun 17, 2020
PTPN118Jun 2, 2019
PUF601Feb 27, 2021
PYCR14Jun 2, 2019
RAF11Jun 2, 2019
RAI11Mar 14, 2022
RIT17Jun 2, 2019
RPL36A-HNRNPH21Oct 9, 2020
RPS6KA31Jun 2, 2019
RUNX21Jun 2, 2019
SCAF41Jul 24, 2020
SET1Mar 14, 2022
SETD51Mar 14, 2022
SHANK31Oct 9, 2020
SLC20A21Mar 14, 2022
SLC6A81Nov 6, 2020
SMARCA21Jun 2, 2019
SMARCA41Mar 14, 2022
SMARCB11Jun 2, 2019
SMS1Jun 3, 2020
SNHG141Oct 9, 2020
SON1Jun 4, 2020
SOS15Jun 2, 2019
SOX51Jul 9, 2020
SURF11Nov 7, 2020
TBK11Apr 6, 2021
TCF41Jun 2, 2019
TGFBR21Jun 2, 2019
TMX2-CTNND11Oct 21, 2020
TNFRSF13B1Apr 19, 2021
TRIO1Oct 9, 2020
TRIP121Feb 27, 2021
TRMT11Feb 27, 2021
TRPS13Jun 2, 2019
TRRAP2Jun 14, 2021
TUBA1A1May 14, 2021
UBE3A1Oct 9, 2020
ZBTB181Mar 14, 2022
ZBTB241Oct 9, 2020
ZEB21Jun 2, 2019

Condition

NameSubmissionsLast Updated
ALDH18A1-related de Barsy syndrome1Jun 2, 2019
Aarskog syndrome2Jun 2, 2019
Abnormal nasal dorsum morphology1Jun 11, 2020
Acrocallosal syndrome1Jun 2, 2019
Alpha thalassemia-X-linked intellectual disability syndrome1Jun 2, 2019
Angelman syndrome1Oct 9, 2020
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2Nov 6, 2020
Ataxia-telangiectasia syndrome2Jun 17, 2020
Atypical behavior1Jun 3, 2020
Autosomal dominant Robinow syndrome 11Jun 2, 2019
Autosomal recessive cutis laxa type 2B4Jun 2, 2019
Axenfeld-Rieger syndrome type 31Jun 4, 2020
Blepharocheilodontic syndrome 21Oct 21, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type1Nov 7, 2020
Bohring-Opitz syndrome2Jun 2, 2019
CHARGE syndrome4Jun 2, 2019
Cardiofaciocutaneous syndrome 16Jun 2, 2019
Clark-Baraitser syndrome1Feb 27, 2021
Cleidocranial dysostosis1Jun 2, 2019
Cockayne syndrome type 11Jul 24, 2020
Coffin-Lowry syndrome1Jun 2, 2019
Coffin-Siris syndrome 17Jul 12, 2020
Coffin-Siris syndrome 121Dec 2, 2022
Congenital myasthenic syndrome 4A1Jun 17, 2020
Cornelia de Lange syndrome 13Dec 13, 2021
Creatine transporter deficiency1Nov 6, 2020
Crouzon syndrome3Jun 2, 2019
DYRK1A-related intellectual disability syndrome2Jun 3, 2020
Delayed speech and language development1Apr 24, 2020
Dental crowding1Jun 11, 2020
Developmental delay with or without dysmorphic facies and autism2Jun 14, 2021
Deviated nasal septum1Jun 11, 2020
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Jun 4, 2020
Epilepsy, familial focal, with variable foci 11Nov 6, 2020
Fanconi anemia complementation group Q2May 14, 2021
Genitopatellar syndrome1Nov 7, 2020
Global developmental delay2Apr 24, 2020
Greig cephalopolysyndactyly syndrome1Jun 2, 2019
Growth delay1Jun 11, 2020
Hyperphosphatasia with intellectual disability syndrome 13Jun 2, 2019
Hyperphosphatasia with intellectual disability syndrome 32Jun 2, 2019
Hypotonia1Jun 3, 2020
Idiopathic basal ganglia calcification 11Mar 14, 2022
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Oct 9, 2020
Intellectual developmental disorder 611Jul 6, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Nov 7, 2020
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Jun 17, 2020
Intellectual developmental disorder, autosomal recessive 681Feb 27, 2021
Intellectual disability1Jun 3, 2020
Intellectual disability, X-linked 1022Jun 2, 2019
Intellectual disability, X-linked 1041May 17, 2021
Intellectual disability, X-linked 491Nov 6, 2020
Intellectual disability, X-linked syndromic, Turner type1Mar 14, 2022
Intellectual disability, X-linked, syndromic, Bain type1Oct 9, 2020
Intellectual disability, autosomal dominant 142Jul 9, 2021
Intellectual disability, autosomal dominant 151Jun 2, 2019
Intellectual disability, autosomal dominant 161Mar 14, 2022
Intellectual disability, autosomal dominant 221Mar 14, 2022
Intellectual disability, autosomal dominant 502Mar 14, 2022
Intellectual disability, autosomal dominant 511Dec 2, 2022
Intellectual disability, autosomal dominant 541Nov 7, 2020
Intellectual disability, autosomal dominant 561Nov 30, 2020
Intellectual disability, autosomal dominant 581Mar 14, 2022
Intellectual disability, autosomal dominant 61Jun 3, 2020
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Mar 14, 2022
Intention tremor1Jun 11, 2020
Joubert syndrome 211Jun 17, 2020
KBG syndrome5Jun 2, 2019
Kabuki syndrome 16Jun 4, 2020
Kleefstra syndrome 13Oct 9, 2020
Koolen-de Vries syndrome1Oct 9, 2020
L-2-hydroxyglutaric aciduria1Feb 27, 2021
Lamb-Shaffer syndrome1Jul 9, 2020
Langer-Giedion syndrome2Jun 2, 2019
Larsen syndrome2Jun 2, 2019
Lateral meningocele syndrome1Jun 2, 2019
Lipoatrophy1Jun 11, 2020
Lissencephaly due to TUBA1A mutation1May 14, 2021
Loeys-Dietz syndrome 11Jun 2, 2019
Mandibulofacial dysostosis-microcephaly syndrome1Jun 2, 2019
Marshall syndrome1Jun 2, 2019
Menke-Hennekam syndrome 21Jul 9, 2020
Microcephaly3Jun 11, 2020
Microcephaly 1, primary, autosomal recessive6Jun 2, 2019
Micrognathia1Jun 11, 2020
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Oct 9, 2020
Migraine, familial hemiplegic, 11Nov 9, 2020
Mitochondrial complex IV deficiency, nuclear type 11Nov 7, 2020
Mowat-Wilson syndrome1Jun 2, 2019
Muenke syndrome1Jun 2, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 12Mar 18, 2021
Multiple unerupted teeth1Jun 11, 2020
Narrow mouth1Jun 11, 2020
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities2Feb 27, 2021
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Nov 29, 2020
Neurofibromatosis, type 11Jun 2, 2019
Nicolaides-Baraitser syndrome1Jun 2, 2019
Noonan syndrome 122Jun 2, 2019
Noonan syndrome 101Nov 7, 2020
Ocular albinism with congenital sensorineural hearing loss1Jun 2, 2019
Otospondylomegaepiphyseal dysplasia, autosomal dominant3Jun 2, 2019
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Feb 27, 2021
Phelan-McDermid syndrome1Oct 9, 2020
Pitt-Hopkins syndrome1Jun 2, 2019
Primary hyperoxaluria, type I1Mar 14, 2022
Progeroid facial appearance1Jun 11, 2020
Prominent superficial veins1Jun 11, 2020
Proptosis1Jun 11, 2020
Reduced bone mineral density1Jun 11, 2020
Rett syndrome3Jun 2, 2019
Rett syndrome, congenital variant1Jun 3, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations3Jun 2, 2019
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Jun 3, 2020
SCAF4-associated mental retardation1Jul 24, 2020
Self-injurious behavior1Jun 3, 2020
Severe SARS-CoV-2 infection, susceptibility to2Apr 19, 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Oct 9, 2020
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Oct 9, 2020
Short clavicles1Jun 11, 2020
Short stature1Jun 11, 2020
Sleep abnormality1Jun 3, 2020
Smith-Lemli-Opitz syndrome2Jun 2, 2019
Smith-Magenis syndrome1Mar 14, 2022
Sotos syndrome1Jun 2, 2019
Syndromic X-linked intellectual disability Snyder type1Jun 3, 2020
TRAPP-associated developmental delay1Jul 9, 2020
Tatton-Brown-Rahman overgrowth syndrome1Dec 2, 2022
Tay-Sachs disease2Jun 17, 2020
Teeth, supernumerary1Jun 11, 2020
Thin skin1Jun 11, 2020
Triangular face1Jun 11, 2020
Trichorhinophalangeal dysplasia type I1Jun 2, 2019
Wiedemann-Steiner syndrome2Jun 2, 2019
XFE progeroid syndrome2May 14, 2021
Xeroderma pigmentosum, group F2Mar 14, 2022
ZTTK syndrome1Jun 4, 2020
not provided1Dec 2, 2022