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Diagnostic Laboratory (Strasbourg University Hospital), HUS

General information

Diagnostic Laboratory, HUS
Strasbourg University Hospital
Strasbourg
France

Organization ID: 505818

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 739

Gene

GeneSubmissionsLast Updated
ACSL41Sep 22, 2020
ACTB2Mar 9, 2020
ADGRG11Aug 3, 2022
ADNP6Aug 3, 2022
AGO19Oct 15, 2021
AHDC12Mar 9, 2020
ALDH18A12Sep 22, 2020
ALDH5A11Mar 9, 2020
ALG132Aug 3, 2022
ANKRD1115Mar 9, 2020
AP4M14Sep 22, 2020
AP4S12Sep 22, 2020
ARHGEF95Mar 9, 2020
ARID1A1Sep 22, 2020
ARID1B10Mar 9, 2020
ARX2Aug 3, 2022
ASNS3Aug 3, 2022
ASXL34Sep 18, 2020
ATRX2Mar 9, 2020
ATXN3L1Mar 9, 2020
AUTS23Sep 22, 2020
BCKDHA1Mar 9, 2020
BCL11A1Mar 9, 2020
BPTF1Sep 22, 2020
BRPF13Mar 9, 2020
CACNA1C3Jul 26, 2021
CAMK2B2Sep 18, 2020
CAMTA11Sep 18, 2020
CASK7Aug 3, 2022
CDKL52Aug 3, 2022
CFAP431Feb 9, 2021
CHD211Aug 3, 2022
CHD83Sep 18, 2020
CLCN42Sep 18, 2020
CLTC1Sep 18, 2020
CNKSR23Sep 18, 2020
CNTNAP23Sep 18, 2020
COL4A12Aug 3, 2022
CPS11Sep 18, 2020
CREBBP6Aug 3, 2022
CSNK2A11Sep 18, 2020
CTCF2Sep 18, 2020
CTNNB14Sep 18, 2020
CUL32Sep 18, 2020
CUL4B2Aug 3, 2022
CZ1P-ASNS3Aug 3, 2022
DCX3Aug 3, 2022
DDX3X15Aug 3, 2022
DEAF12Sep 22, 2020
DEPDC57Aug 3, 2022
DLG31Sep 18, 2020
DMD1Sep 18, 2020
DNAH12Feb 10, 2021
DNMT3A3Sep 18, 2020
DSCAM3Sep 22, 2020
DUSP291May 30, 2020
DYNC1H19Aug 3, 2022
DYRK1A23Jun 8, 2021
EEF1A22Aug 3, 2022
EHMT15Sep 18, 2020
EP3003Sep 18, 2020
FGD11Sep 18, 2020
FLNA5Aug 3, 2022
FMR13Nov 2, 2016
FOXG12Aug 3, 2022
FOXP15May 5, 2021
FTSJ12Sep 18, 2020
GABBR23Sep 18, 2020
GABRA12Sep 18, 2020
GABRB34Sep 22, 2020
GABRG24Aug 3, 2022
GALNTL51Feb 10, 2021
GATAD2B2Sep 18, 2020
GCH11Sep 18, 2020
GDI11Sep 18, 2020
GNB11Sep 18, 2020
GPC32Sep 18, 2020
GRIA34Sep 18, 2020
GRIN18Aug 3, 2022
GRIN2A4Aug 3, 2022
GRIN2B11Sep 18, 2020
GRIN2D1Aug 3, 2022
GS1-600G8.31Mar 9, 2020
HBA-LCR2Aug 3, 2022
HCFC12Sep 18, 2020
HCN15Aug 3, 2022
HCN21Aug 3, 2022
HDAC43Sep 18, 2020
HDAC82Sep 18, 2020
HERC12Sep 18, 2020
HFM11Feb 9, 2021
HIVEP22Sep 18, 2020
HNRNPU2Sep 18, 2020
HRAS1Sep 18, 2020
HUWE111Sep 22, 2020
IGF1R1Sep 18, 2020
IL1RAPL12Sep 18, 2020
IQSEC24Sep 18, 2020
ITPR11Sep 18, 2020
KANSL14May 30, 2020
KAT6A5May 30, 2020
KAT6B4May 30, 2020
KCNB14May 30, 2020
KCNC12Aug 3, 2022
KCNH11Aug 3, 2022
KCNMA11May 30, 2020
KCNMA1-AS11May 30, 2020
KCNQ212Aug 3, 2022
KCNQ35Aug 3, 2022
KCNQ51May 30, 2020
KCNT11Aug 3, 2022
KDM5C8May 30, 2020
KDM6A2May 30, 2020
KIF1A1May 30, 2020
KIF2A1Aug 3, 2022
KLHL101Feb 9, 2021
KMT2A8May 30, 2020
KMT2C1May 30, 2020
KMT2D4May 30, 2020
L1CAM2May 30, 2020
LAMC31May 30, 2020
LAMP21May 30, 2020
LGI11May 30, 2020
LOC1027240584Aug 3, 2022
LOC1079880321Aug 3, 2022
LOC1153081611Mar 9, 2020
LOC1254677681Aug 3, 2022
LOC1266533761Sep 18, 2020
LOC1268064621May 30, 2020
LOC1268066581Sep 18, 2020
LOC1268066592Sep 18, 2020
LOC1268068781Sep 11, 2020
LOC1268622301Sep 18, 2020
LOC1268626091Sep 18, 2020
LOC1268632561Sep 11, 2020
LOC1268632632Sep 18, 2020
LOC1299301232Oct 15, 2021
LOC1299948261May 30, 2020
LOC1300031481Sep 18, 2020
LOC1300565021Sep 18, 2020
LOC1300569771Feb 9, 2021
LOC1300683081May 30, 2020
LRRC561Sep 18, 2020
MAGEL21Sep 22, 2020
MBD56May 30, 2020
MEA11May 30, 2020
MECP29Aug 3, 2022
MED123May 30, 2020
MED13L11May 30, 2020
MED171May 30, 2020
MED231May 30, 2020
MEF2C3May 30, 2020
MEF2C-AS21May 30, 2020
MVP-DT1Aug 3, 2022
MYT1L8May 30, 2020
NAA102May 30, 2020
NEDD4L4Aug 3, 2022
NEXMIF5May 30, 2020
NF12May 30, 2020
NFIX2May 30, 2020
NIPBL2May 30, 2020
NLGN32May 30, 2020
NLGN4X1May 30, 2020
NOVA21Feb 7, 2020
NPRL21Aug 3, 2022
NPRL32Aug 3, 2022
NR2F11Aug 3, 2022
NR2F1-AS11Aug 3, 2022
NRXN11May 30, 2020
NRXN22May 30, 2020
NSD12Aug 3, 2022
OPHN11Aug 3, 2022
PABPC1L1Jun 18, 2021
PAFAH1B12Aug 3, 2022
PAK33May 30, 2020
PATL21Feb 9, 2021
PCDH193Aug 3, 2022
PHF21A1May 30, 2020
PHF61May 30, 2020
PHF81Apr 20, 2015
PIGA1May 30, 2020
PIK3CA2Aug 3, 2022
PLP11May 30, 2020
PMM22May 30, 2020
PNKP3Aug 3, 2022
POGZ9May 30, 2020
POMGNT11May 30, 2020
PPP2R5D1May 30, 2020
PPP3CA1Aug 3, 2022
PQBP11Apr 20, 2015
PREPL1Feb 14, 2023
PRRT21Aug 3, 2022
PSMD121May 30, 2020
PTCHD11Apr 14, 2021
PTEN2Aug 3, 2022
PTPN113May 30, 2020
PURA3May 30, 2020
RAB9B1May 30, 2020
RAI14May 30, 2020
RELN3Aug 3, 2022
RNF113A1Aug 3, 2022
RORB1Aug 3, 2022
RPS6KA33May 30, 2020
SATB26May 30, 2020
SCN1A16Aug 3, 2022
SCN2A13Aug 3, 2022
SCN3A2Aug 3, 2022
SCN8A6Aug 3, 2022
SETBP13May 30, 2020
SETD1A1May 30, 2020
SETD54May 30, 2020
SHANK11May 30, 2020
SHANK21May 30, 2020
SHANK311May 30, 2020
SKI1May 30, 2020
SLC16A21Apr 20, 2015
SLC26A5-AS11Sep 22, 2020
SLC2A12May 30, 2020
SLC3A11Feb 14, 2023
SLC6A14May 30, 2020
SLC6A1-AS11May 30, 2020
SLC6A82May 30, 2020
SLC9A63May 30, 2020
SLITRK28Jan 25, 2022
SMAD41Sep 11, 2020
SMARCA29Aug 3, 2022
SMARCB11Sep 11, 2020
SMARCE11Sep 11, 2020
SMC31Sep 11, 2020
SNHG145Sep 11, 2020
SON1Sep 11, 2020
SOX52Sep 11, 2020
SPTAN12Sep 11, 2020
ST3GAL32Sep 11, 2020
ST3GAL52Sep 11, 2020
STAG11Sep 11, 2020
STAT11Sep 17, 2021
STIL1Sep 11, 2020
STXBP18Sep 11, 2020
SYN13Sep 11, 2020
SYNGAP17Sep 22, 2020
SYNGAP1-AS16Sep 22, 2020
TAF13Sep 11, 2020
TBCK1Sep 11, 2020
TBL1XR14Sep 11, 2020
TBL1XR1-AS12Sep 11, 2020
TBR15Aug 3, 2022
TCF43Apr 20, 2015
TMLHE1Sep 11, 2020
TRAPPC91Sep 11, 2020
TRIO7Sep 11, 2020
TRIP124Sep 11, 2020
TRPC51Sep 11, 2020
TSC23Aug 3, 2022
TSPAN11May 30, 2020
TUBA1A2Aug 3, 2022
TUBB2A2Aug 3, 2022
TUBB32Aug 3, 2022
TUBB81Feb 9, 2021
UBE3A5Sep 11, 2020
UNC801Sep 11, 2020
UPF3B2Sep 11, 2020
USP9X3Sep 11, 2020
WDR261Sep 11, 2020
WDR454Sep 22, 2020
WDR622Aug 3, 2022
YWHAG1Aug 3, 2022
ZBTB206Sep 11, 2020
ZBTB20-AS11Sep 11, 2020
ZDHHC93Sep 11, 2020
ZEB22Sep 11, 2020
ZMYM31Sep 11, 2020
ZNF2926Jul 19, 2021
ZNF5261Sep 11, 2020

Condition

NameSubmissionsLast Updated
Abnormal cerebral morphology38Aug 3, 2022
Autism spectrum disorder6May 30, 2020
Chronic mucocutaneous candidiasis1Sep 17, 2021
Female infertility due to zona pellucida defect1Jun 18, 2021
Intellectual disability617Feb 14, 2023
Intellectual disability, severe1Feb 7, 2020
Male infertility1Feb 10, 2021
Oocyte maturation defect 21Feb 9, 2021
Oocyte maturation defect 41Feb 9, 2021
Premature ovarian failure 91Feb 9, 2021
Seizure67Aug 3, 2022
Spermatogenic failure 111Feb 9, 2021
Spermatogenic failure 182Feb 10, 2021
Spermatogenic failure 191Feb 9, 2021