Laboratory of Molecular Genetics (Pr. Bezieau's lab) (CHU de Nantes), MedGenet

General information

Laboratory of Molecular Genetics (Pr. Bezieau's lab), MedGenet
CHU de Nantes
9 quai Moncousu
Nantes
France - 44093

Organization ID: 505613

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 473

Gene

GeneSubmissionsLast Updated
AARS12Feb 7, 2018
ACTB4Apr 20, 2021
ACTG11Feb 22, 2019
ADNP2Feb 7, 2018
AFF21Feb 22, 2019
AHDC11Feb 7, 2018
ALG132Feb 22, 2019
ALPK32Apr 20, 2021
ANKRD114Feb 22, 2019
AP2M11Apr 20, 2021
AP2S11Apr 20, 2021
AP4S13Apr 20, 2021
ARHGEF91Feb 7, 2018
ARID1A1Apr 20, 2021
ARID1B3Feb 22, 2019
ARID22Apr 20, 2021
ASH1L3Feb 17, 2020
ASL2Apr 20, 2021
ASNS1Feb 7, 2018
ASXL33Apr 20, 2021
ATP6V1B21Feb 17, 2020
ATRIP1Feb 7, 2018
ATRIP-TREX11Feb 7, 2018
ATRX1Feb 22, 2019
AUTS21Feb 22, 2019
AVPR21Feb 17, 2020
BCL11B1Feb 17, 2020
BCOR1Feb 7, 2018
BCS1L2Feb 7, 2018
BPTF1Apr 20, 2021
BRAF1Feb 22, 2019
CACNA1F1Feb 17, 2020
CAMK2A10Jul 6, 2017
CAMK2B7Jul 6, 2017
CAMTA11Apr 20, 2021
CASK2Apr 20, 2021
CASR1Apr 20, 2021
CC2D2A2Feb 7, 2018
CCDC221Feb 22, 2019
CDC421Apr 20, 2021
CDK101Feb 17, 2020
CDK131Feb 22, 2019
CDK191Apr 20, 2021
CDKL52Feb 17, 2020
CENPF2Feb 7, 2018
CEP85L1Apr 20, 2021
CHAMP11Apr 20, 2021
CHD23Feb 17, 2020
CHD43Feb 17, 2020
CHD73Apr 20, 2021
CHD84Apr 20, 2021
CHRNA71Feb 22, 2019
CIC1Feb 22, 2019
CLCN42Apr 20, 2021
CLN62Apr 20, 2021
CLPB2Feb 22, 2019
CNKSR21Apr 20, 2021
CNOT21Apr 20, 2021
CNOT31Feb 17, 2020
CNTNAP11Jun 15, 2016
COG42Feb 7, 2018
COPB21Feb 17, 2020
CREBBP3Feb 22, 2019
CSNK2A15Feb 17, 2020
CTNNB13Apr 20, 2021
CTSF2Apr 20, 2021
CUL32Feb 17, 2020
CUL4B1Feb 22, 2019
CUX13Apr 20, 2021
CZ1P-ASNS1Feb 7, 2018
DDX3X7Apr 20, 2021
DEAF12Feb 17, 2020
DLG41Feb 17, 2020
DNM11Feb 17, 2020
DNM21Feb 7, 2018
DNMT3A2Apr 20, 2021
DSCAM1Feb 7, 2018
DUSP291Apr 20, 2021
DYNC1H13Apr 20, 2021
DYRK1A2Feb 17, 2020
EBF32Feb 22, 2019
EFTUD21Feb 17, 2020
EHMT15Apr 20, 2021
EIF5A1Apr 20, 2021
EP3003Apr 20, 2021
ERF1Apr 20, 2021
EZH21Apr 20, 2021
FBXL42Feb 7, 2018
FBXO111Apr 20, 2021
FGD11Feb 22, 2019
FGF121Feb 7, 2018
FGF131Apr 20, 2021
FKBP141Feb 7, 2018
FKBP14-AS11Feb 7, 2018
FOXG12Apr 20, 2021
FOXP11Feb 17, 2020
FTSJ11Feb 17, 2020
FUCA11Feb 22, 2019
GABBR21Feb 17, 2020
GAMT1Feb 17, 2020
GATA31Apr 20, 2021
GATAD2B1Feb 7, 2018
GDI11Feb 22, 2019
GFER1Feb 17, 2020
GNB13Feb 17, 2020
GPT21Feb 17, 2020
GRIA11Apr 20, 2021
GRIA31Apr 20, 2021
GRIN11Apr 20, 2021
GRIN2A3Apr 20, 2021
GRIN2B3Feb 17, 2020
GRIPAP11Apr 20, 2021
H1-42Apr 20, 2021
HCCS1Feb 7, 2018
HDAC81Apr 20, 2021
HERC12Apr 20, 2021
HNRNPU1Feb 7, 2018
HUWE13Feb 17, 2020
IGF1R2Apr 20, 2021
IQSEC22Apr 20, 2021
IRAIN1Apr 20, 2021
ITPR11Feb 22, 2019
JAG11Feb 7, 2018
JARID21Apr 20, 2021
KAT6A1Feb 7, 2018
KAT6B2Apr 20, 2021
KCNA22Apr 20, 2021
KCNB11Feb 17, 2020
KCNC11Feb 7, 2018
KCNC31Feb 7, 2018
KCNH12Apr 20, 2021
KCNK91Feb 22, 2019
KCNMA11Feb 17, 2020
KCNQ21Apr 20, 2021
KCNQ31Feb 22, 2019
KDM5C1Feb 22, 2019
KDM6A3Feb 22, 2019
KIRREL31Feb 22, 2019
KLHL201Apr 20, 2021
KMT2A3Apr 20, 2021
KMT2C3Apr 20, 2021
KMT2D3Feb 17, 2020
KMT2E1Apr 20, 2021
KMT5B2Feb 22, 2019
LAS1L1Apr 20, 2021
LOC1027240581Apr 20, 2021
LOC1148034701Feb 22, 2019
MAN1B12Feb 17, 2020
MAOA1Feb 17, 2020
MECP25Apr 20, 2021
MED13L6Apr 20, 2021
MED141Apr 20, 2021
MED252Apr 20, 2021
MEF2C1Apr 20, 2021
MEIS21Feb 7, 2018
MIR68571Feb 7, 2018
MORC21Apr 20, 2021
MRPS221Feb 17, 2020
MYT1L5Apr 20, 2021
NAA101Feb 7, 2018
NAA152Apr 20, 2021
NARS21Feb 7, 2018
NBEA1Apr 20, 2021
NDUFB111Apr 20, 2021
NEXMIF2Feb 17, 2020
NF11Feb 22, 2019
NFIA1Feb 17, 2020
NFIB2Apr 20, 2021
NIPBL1Feb 7, 2018
NONO1Feb 22, 2019
NR2F21Apr 20, 2021
NRAS2Apr 20, 2021
NSD11Apr 20, 2021
NTRK21Feb 22, 2019
OPA11Apr 20, 2021
OTC1Feb 17, 2020
OTUD6B1Feb 7, 2018
PACS12Apr 20, 2021
PACS21Feb 17, 2020
PAK32Feb 7, 2018
PBX11Feb 17, 2020
PEX62Feb 7, 2018
PEX72Feb 7, 2018
PGAP21Feb 22, 2019
PHF61Feb 17, 2020
PIK3R21Feb 17, 2020
PKD11Feb 17, 2020
POGZ2Apr 20, 2021
POMGNT12Feb 22, 2019
PORCN1Feb 22, 2019
PPP2R1A2Apr 20, 2021
PQBP12Feb 17, 2020
PSMD121Feb 17, 2020
PTCHD11Feb 17, 2020
PTEN1Feb 17, 2020
PTPN112Apr 20, 2021
PUF601Feb 17, 2020
PUM11Apr 20, 2021
PURA1Apr 20, 2021
PYCR21Feb 7, 2018
RAB39B1Apr 20, 2021
RAD211Feb 17, 2020
RAI11Feb 22, 2019
RASA21Feb 22, 2019
RERE2Feb 22, 2019
RFX31Apr 20, 2021
RLIM1Feb 22, 2019
RNASEH2B1Feb 7, 2018
RORA1Apr 20, 2021
RORA-AS11Apr 20, 2021
RS11Feb 17, 2020
RTTN2Feb 7, 2018
RYR11Feb 22, 2019
SATB11Apr 20, 2021
SATB21Feb 17, 2020
SCAF41Apr 20, 2021
SCN1A1Apr 20, 2021
SCN2A4Apr 20, 2021
SCN8A4Apr 20, 2021
SET1Feb 17, 2020
SETBP12Apr 20, 2021
SETD1A1Apr 20, 2021
SETD1B2Apr 20, 2021
SETD22Apr 20, 2021
SETD55Apr 20, 2021
SGSH2Feb 22, 2019
SHANK34Apr 20, 2021
SHMT22Apr 20, 2021
SHOC21Feb 22, 2019
SKI1Feb 22, 2019
SLC16A21Feb 7, 2018
SLC6A13Feb 22, 2019
SLC6A51Feb 22, 2019
SLC6A83Apr 20, 2021
SLC9A61Apr 20, 2021
SMAD41Feb 7, 2018
SMARCA42Feb 17, 2020
SMARCB13Feb 17, 2020
SMARCC21Apr 20, 2021
SMC1A2Feb 7, 2018
SNX142Apr 20, 2021
SON1Feb 7, 2018
SOX51Feb 22, 2019
SOX61Apr 20, 2021
SPTAN13Apr 20, 2021
SRPK21Apr 20, 2021
ST3GAL41Feb 22, 2019
STAG14Apr 20, 2021
STAG21Feb 7, 2018
STX1B1Apr 20, 2021
STXBP11Feb 7, 2018
SUZ121Feb 17, 2020
SYNGAP15Apr 20, 2021
SYT12Apr 20, 2021
TAF11Feb 22, 2019
TAOK11Apr 20, 2021
TARS22Apr 20, 2021
TBL1XR12Apr 20, 2021
TBR12Apr 20, 2021
TCF201Feb 7, 2018
TCF43Apr 20, 2021
TFE31Apr 20, 2021
THRA1Apr 20, 2021
TLK22Feb 17, 2020
TMEM2401Apr 20, 2021
TPO1Apr 20, 2021
TPP11Feb 7, 2018
TRAPPC92Feb 7, 2018
TREX11Feb 7, 2018
TRIO3Feb 7, 2018
TRIP122Apr 20, 2021
TRRAP1Feb 17, 2020
TSPAN12Feb 22, 2019
TUBA1A1Apr 20, 2021
TUBB2Feb 17, 2020
TUBB2A2Feb 17, 2020
TUBB2B1Feb 7, 2018
TUBB4A1Feb 22, 2019
UFM11Feb 22, 2019
UNC801Feb 7, 2018
UPF3B1Apr 20, 2021
USP9X4Apr 20, 2021
VIM1Oct 3, 2019
WAC1Feb 22, 2019
WDR451Feb 7, 2018
YWHAG1Feb 17, 2020
ZBTB201Feb 22, 2019
ZC4H21Apr 20, 2021
ZEB24Apr 20, 2021
ZNF2922Apr 20, 2021
ZNF3352Feb 7, 2018
ZNF4621Feb 7, 2018

Condition

NameSubmissionsLast Updated
Cleft palate1Feb 23, 2016
Dystonia1Feb 23, 2016
Growth delay1Feb 23, 2016
Hypothyroidism1Feb 23, 2016
Infantile axial hypotonia1Feb 23, 2016
Intellectual disability18Jul 6, 2017
Lethal congenital contracture syndrome 71Jun 15, 2016
Neurodevelopmental disorder150Apr 20, 2021
Upper limb hypertonia1Feb 23, 2016
not provided303Feb 17, 2020
syndrome with premature-aging1Oct 3, 2019
Support Center