Department of Medical Genetics (Oslo University Hospital), AMG, OUS

General information

Department of Medical Genetics, AMG, OUS
Oslo University Hospital
Oslo
Norway - 0450

Organization ID: 505260

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 274

Gene

GeneSubmissionsLast Updated
AHDC12Sep 16, 2020
ASXL31Sep 16, 2020
BRCA1114Sep 5, 2017
BRCA288Oct 18, 2017
CBY12Aug 21, 2020
CDK131Sep 16, 2020
CHD71Sep 16, 2020
CHRNB21Dec 22, 2014
DUSP291Sep 16, 2020
EFNB14Sep 16, 2020
EHMT11Sep 16, 2020
ERF1Sep 16, 2020
FBXL41Apr 6, 2016
FGFR28Sep 16, 2020
FGFR32Sep 16, 2020
IFT1221Sep 16, 2020
IGHMBP26Oct 21, 2015
IL11RA2Sep 16, 2020
KAT6B1Sep 16, 2020
KLF18Feb 27, 2014
LOC1171255913Feb 27, 2014
LOC1171255921Feb 27, 2014
LPAR61Oct 27, 2015
MAN2B11Sep 16, 2020
MED121Apr 15, 2016
NFIX1Sep 16, 2020
PDE6H1Oct 27, 2015
PEX51May 15, 2015
RB11Oct 27, 2015
SRCAP1Sep 16, 2020
STIM11Feb 18, 2014
TCF121Sep 16, 2020
TWIST16Sep 16, 2020
UBE3B1Oct 21, 2014
ZIC11Sep 16, 2020

Condition

NameSubmissionsLast Updated
2q24 microdeletion syndrome1Sep 16, 2020
5q35 microduplication syndrome1Sep 16, 2020
Acrocephalosyndactyly type I2Sep 16, 2020
BLOOD GROUP--LUTHERAN INHIBITOR2Jul 28, 2013
Bainbridge-Ropers syndrome1Sep 16, 2020
Beare-Stevenson cutis gyrata syndrome1Sep 16, 2020
Brain malformations and urinary tract defects1Sep 16, 2020
Breast-ovarian cancer, familial 1114Sep 5, 2017
Breast-ovarian cancer, familial 288Oct 18, 2017
CHARGE association1Sep 16, 2020
Cat eye syndrome1Sep 16, 2020
Charcot-Marie-Tooth disease, axonal, type 2S3Oct 21, 2015
Chromosome 22q11.2 microduplication syndrome1Sep 16, 2020
Chromosome 2q37 deletion syndrome1Sep 16, 2020
Chromosome 9p deletion syndrome2Sep 16, 2020
Congenital dyserythropoietic anemia, type IV2Jul 28, 2013
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Sep 16, 2020
Cranioectodermal dysplasia 11Sep 16, 2020
Craniofrontonasal syndrome4Sep 16, 2020
Craniosynostosis 31Sep 16, 2020
Craniosynostosis 41Sep 16, 2020
Craniosynostosis 61Sep 16, 2020
Craniosynostosis and dental anomalies2Sep 16, 2020
Crouzon syndrome4Sep 16, 2020
Crouzon syndrome with acanthosis nigricans1Sep 16, 2020
Deficiency of alpha-mannosidase1Sep 16, 2020
Deletion 6q16 q211Sep 16, 2020
Diamond-Blackfan anemia 61Sep 16, 2020
Distal 17p13.3 microdeletion syndrome1Sep 16, 2020
FG syndrome 11Apr 15, 2016
Fetal hemoglobin quantitative trait locus 62Jul 28, 2013
Floating-Harbor syndrome1Sep 16, 2020
Generalized seizures1Dec 22, 2014
Genitopatellar syndrome1Sep 16, 2020
Hypotrichosis 81Oct 27, 2015
Joubert syndrome2Aug 21, 2020
Kaufman oculocerebrofacial syndrome1Oct 21, 2014
Kleefstra syndrome 11Sep 16, 2020
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Apr 6, 2016
Muenke syndrome1Sep 16, 2020
Pfeiffer syndrome1Sep 16, 2020
Retinal cone dystrophy 3A1Oct 27, 2015
Rhizomelic chondrodysplasia punctata1May 15, 2015
Russell-Silver syndrome1Sep 16, 2020
Saethre-Chotzen syndrome7Sep 16, 2020
Sotos syndrome 21Sep 16, 2020
Spinal muscular atrophy, distal, autosomal recessive, 13Oct 21, 2015
Stormorken syndrome1Feb 18, 2014
Xia-Gibbs syndrome2Sep 16, 2020
not provided6Feb 27, 2014
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