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CHU Sainte-Justine Research Center (Université de Montréal)

General information

CHU Sainte-Justine Research Center
Université de Montréal
Montreal
Quebec
Canada
https://www.chusj.org/en/Home
Organization ID: 505306

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 117

Gene

GeneSubmissionsLast Updated
ACTL6B16Mar 1, 2019
ADAMTS81Aug 18, 2016
AIFM11Jan 23, 2023
AMH1Aug 18, 2016
ANAPC14Jun 3, 2019
BCDIN3D1Aug 18, 2016
BSN1Aug 18, 2016
CDH112Aug 18, 2016
CHD323May 3, 2018
CHD41Jan 23, 2023
COMP1Jan 23, 2023
CYP2U1-AS11Jan 23, 2023
DYNC1H11Jan 23, 2023
ECEL11Jan 23, 2023
FGFR11Aug 6, 2019
FN112Jan 23, 2023
GARIN42Aug 18, 2016
GDF31Jan 23, 2023
HECW23Aug 18, 2016
HSPB71Aug 18, 2016
INTS6L1Aug 18, 2016
KBTBD6-DT2Aug 18, 2016
KBTBD72Aug 18, 2016
KDM6B1Aug 18, 2016
KIF1A11Oct 6, 2014
MRPL282Aug 18, 2016
NALCN1Feb 9, 2015
NBAS1Oct 18, 2015
NPIPA51Aug 18, 2016
OCRL1Jan 23, 2023
OXR13Jun 3, 2019
PLCB22Aug 18, 2016
PTCH22Aug 18, 2016
RAB33A1Jan 23, 2023
RARB2Dec 15, 2015
ROR22Jan 23, 2023
SALL41Jan 23, 2023
SGMS21Jan 23, 2023
SIM12Aug 18, 2016
SLC39A141Jan 23, 2023
TBX51Jan 23, 2023
TGDS2Jan 23, 2023
TSPEAR1Jan 23, 2023
TUBB31Aug 18, 2016
ZBTB44-DT1Aug 18, 2016
ZNF7871Aug 18, 2016

Condition

NameSubmissionsLast Updated
ACTL6B-related dominant intellectual disability2Mar 1, 2019
ACTL6B-related recessive epilepsy14Mar 1, 2019
Autism2Mar 1, 2019
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Jan 23, 2023
Autosomal recessive Robinow syndrome2Jan 23, 2023
Calvarial doughnut lesions-bone fragility syndrome1Jan 23, 2023
Catel-Manzke syndrome2Jan 23, 2023
Cerebellar atrophy3Jun 3, 2019
Dent disease type 21Jan 23, 2023
Distal arthrogryposis type 5D1Jan 23, 2023
Duane-radial ray syndrome1Jan 23, 2023
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1Jan 23, 2023
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Aug 18, 2016
Holt-Oram syndrome1Jan 23, 2023
Hyperostosis cranialis interna1Jan 23, 2023
Hypogonadotropic hypogonadism 2 with or without anosmia1Aug 6, 2019
Infantile liver failure syndrome 21Oct 18, 2015
Intellectual disability26Jun 3, 2019
Intellectual disability with episodic ataxia and congenital arthrogryposis1Feb 9, 2015
Intellectual disability, autosomal dominant 911Oct 6, 2014
Klippel-Feil syndrome 3, autosomal dominant1Jan 23, 2023
Microphthalmia, syndromic 122Dec 15, 2015
Multiple epiphyseal dysplasia type 11Jan 23, 2023
Oromandibular-limb hypogenesis spectrum26Aug 18, 2016
Rothmund-Thomson syndrome type 14Jun 3, 2019
Seizure3Jun 3, 2019
Sifrim-Hitz-Weiss syndrome1Jan 23, 2023
Spondyloepimetaphyseal dysplasia, Bieganski type1Jan 23, 2023
Spondylometaphyseal dysplasia11May 9, 2018
Spondylometaphyseal dysplasia - Sutcliffe type1Jan 23, 2023