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Joint Genome Diagnostic Labs from Nijmegen and Maastricht (Radboudumc and MUMC+), Radboudumc_MUMC+

General information

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc_MUMC+
Radboudumc and MUMC+
Geert grooteplein zuid 10 and Peter Debyelaan 25
Nijmegen and Maastricht
Netherlands - 6525GA / 6229HX
https://www.radboudumc.nl/en/afdelingen/genetica/about-us/genomediagnostics/collaboration
Organization ID: 505925

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 10274

Gene

GeneSubmissionsLast Updated
A2ML134Dec 16, 2021
A2ML1-AS14Sep 30, 2021
AAAS1Sep 30, 2021
AAGAB2Dec 16, 2021
AARS12Sep 30, 2021
ABCA122Sep 30, 2021
ABCA471Jul 30, 2024
ABCB116Sep 30, 2021
ABCB45Sep 30, 2021
ABCC612Sep 30, 2021
ABCC87Dec 16, 2021
ABCC922Oct 15, 2021
ABCD17Sep 30, 2021
ABCG52Sep 30, 2021
ABCG89Sep 30, 2021
ABHD127Sep 30, 2021
ACAD82Dec 16, 2021
ACAD92Sep 30, 2021
ACADM2Oct 15, 2021
ACADS1Sep 30, 2021
ACADVL2Sep 30, 2021
ACAN31Dec 16, 2021
ACAT12Sep 30, 2021
ACBD52Sep 14, 2016
ACO23Sep 30, 2021
ACOX11Sep 30, 2021
ACSF39Sep 30, 2021
ACSL41Jun 1, 2022
ACTA13Sep 30, 2021
ACTA22Sep 30, 2021
ACTB3Sep 30, 2021
ACTC115Oct 15, 2021
ACTG114Jun 1, 2022
ACTG21Oct 15, 2021
ACTN233Oct 15, 2021
ACTN43Sep 30, 2021
ACVR2B5Sep 30, 2021
ACVR2B-AS11Sep 30, 2021
ADA2Sep 30, 2021
ADA27Dec 16, 2021
ADAMTS102Sep 30, 2021
ADAMTS131Sep 30, 2021
ADAMTSL210Sep 30, 2021
ADAR1Sep 30, 2021
ADAT31Oct 15, 2021
ADCY59Jun 1, 2022
ADGRV124Jul 30, 2024
ADNP1Sep 30, 2021
ADPRS1Jun 1, 2022
AFG2A2Sep 30, 2021
AFG3L25Sep 30, 2021
AGBL51Sep 30, 2021
AGPAT21Sep 30, 2021
AGRN1Dec 16, 2021
AGT2Sep 30, 2021
AHI17Sep 30, 2021
AHRR1Sep 30, 2021
AIP1Sep 30, 2021
AIPL13Sep 30, 2021
AIRE10Oct 15, 2021
AKAP941Oct 15, 2021
ALDH18A11Sep 30, 2021
ALDH3A22Sep 30, 2021
ALDH4A13Sep 30, 2021
ALDH5A11Sep 30, 2021
ALDH7A12Dec 16, 2021
ALDOB1Sep 30, 2021
ALG11Sep 30, 2021
ALG111Sep 30, 2021
ALG131Sep 30, 2021
ALG63Sep 30, 2021
ALG81Sep 30, 2021
ALK4Sep 30, 2021
ALMS132Dec 16, 2021
ALOX12B2Sep 30, 2021
ALOXE33Sep 30, 2021
ALPK31Sep 30, 2021
ALPL3Sep 30, 2021
ALS27Sep 30, 2021
AMT2Sep 30, 2021
ANK239Dec 16, 2021
ANK31Sep 30, 2021
ANKRD113Sep 30, 2021
ANKRD1111Jun 1, 2022
ANLN1Dec 16, 2021
ANO105Sep 30, 2021
ANO31Sep 30, 2021
ANO57Jul 30, 2024
ANOS13Sep 30, 2021
ANXA71Jun 1, 2022
AOPEP1Sep 30, 2021
AP4B16Oct 15, 2021
AP4B1-AS15Oct 15, 2021
AP4M13Oct 15, 2021
AP5Z16Sep 30, 2021
APC63Dec 16, 2021
APTX2Sep 30, 2021
AQP21Sep 30, 2021
AR1Sep 30, 2021
ARF11Sep 30, 2021
ARHGEF101Sep 30, 2021
ARHGEF281Sep 30, 2021
ARHGEF61Sep 30, 2021
ARHGEF91Sep 30, 2021
ARID1B6Sep 30, 2021
ARL61Sep 30, 2021
ARMC52Dec 16, 2021
ARSA10Dec 16, 2021
ARSB2Dec 16, 2021
ARX2Jun 1, 2022
ASB101Sep 30, 2021
ASCC11Dec 16, 2021
ASL4Sep 30, 2021
ASPA1Sep 30, 2021
ASPM19Sep 30, 2021
ASXL110Dec 16, 2021
ASXL32Sep 30, 2021
ATL19Dec 16, 2021
ATM154Dec 16, 2021
ATP13A27Sep 30, 2021
ATP1A28Dec 16, 2021
ATP1A311Sep 30, 2021
ATP2A14Sep 30, 2021
ATP2A21Oct 15, 2021
ATP2B21Sep 30, 2021
ATP6V0A26Sep 30, 2021
ATP6V0A45Sep 30, 2021
ATP6V1B14Sep 30, 2021
ATP7A1Sep 30, 2021
ATP7B10Sep 30, 2021
ATP8A21Sep 30, 2021
ATP8B13Sep 30, 2021
ATP8B1-AS11Sep 30, 2021
ATR1Sep 30, 2021
ATRIP1Sep 30, 2021
ATRIP-TREX11Sep 30, 2021
ATRX5Sep 30, 2021
AUTS22Sep 30, 2021
AVP3Sep 30, 2021
AVPR25Dec 16, 2021
AXDND13Sep 30, 2021
B3GLCT3Sep 30, 2021
B9D21Sep 30, 2021
BAG330Oct 15, 2021
BAP15Sep 30, 2021
BBS110Sep 30, 2021
BBS105Sep 30, 2021
BBS1211Sep 30, 2021
BBS23Sep 30, 2021
BBS42Sep 30, 2021
BBS53Sep 30, 2021
BBS71Sep 30, 2021
BBS95Sep 30, 2021
BCKDHB1Sep 30, 2021
BCOR1Sep 30, 2021
BEST116Oct 15, 2021
BICD24Dec 16, 2021
BIN12Sep 30, 2021
BLM8Sep 30, 2021
BLOC1S61Sep 30, 2021
BMP21Sep 30, 2021
BMPR1A8Dec 16, 2021
BRAF6Sep 30, 2021
BRAT14Oct 15, 2021
BRCA1191Dec 16, 2021
BRCA2291Dec 16, 2021
BRIP126Dec 16, 2021
BRWD33Jun 1, 2022
BSCL23Sep 30, 2021
BSND1Sep 30, 2021
BTD1Sep 30, 2021
BTK1Sep 30, 2021
C10orf1059Jul 30, 2024
C11orf6551Dec 16, 2021
C12orf571Sep 30, 2021
C17orf1071Sep 30, 2021
C19orf121Jun 1, 2022
C1QA1Sep 30, 2021
C1QTNF56Sep 30, 2021
C1S2Sep 30, 2021
C210Sep 30, 2021
C2-AS11Sep 30, 2021
C321Dec 16, 2021
C4A2Sep 30, 2021
C52Sep 30, 2021
C63Sep 30, 2021
C74Sep 30, 2021
C8A1Sep 30, 2021
C8B2Sep 30, 2021
C92Sep 30, 2021
CABP21Sep 30, 2021
CABP42Sep 30, 2021
CACNA1A19Oct 15, 2021
CACNA1C40Dec 16, 2021
CACNA1C-AS115Sep 30, 2021
CACNA1D2Sep 30, 2021
CACNA1F10Sep 30, 2021
CACNA1H4Sep 30, 2021
CACNA1S19Dec 16, 2021
CACNA2D121Oct 15, 2021
CACNA2D1-AS13Sep 30, 2021
CACNB215Oct 15, 2021
CACNB41Sep 30, 2021
CALM11Sep 30, 2021
CALM32Sep 30, 2021
CALR311Sep 30, 2021
CAPN33Sep 30, 2021
CARD141Sep 30, 2021
CASD13Dec 16, 2021
CASQ214Oct 15, 2021
CASR7Sep 30, 2021
CAST1Sep 30, 2021
CAV311Oct 15, 2021
CBL8Sep 30, 2021
CBS6Oct 15, 2021
CC2D2A8Oct 15, 2021
CCDC402Sep 30, 2021
CCDST31Dec 16, 2021
CCND21Sep 30, 2021
CCT51Sep 30, 2021
CD2AP2Sep 30, 2021
CD3G1Sep 30, 2021
CD463Sep 30, 2021
CD961Sep 30, 2021
CDAN13Sep 30, 2021
CDC62Sep 30, 2021
CDH127Oct 15, 2021
CDH131Jun 1, 2022
CDH21Sep 30, 2021
CDH2342Jul 30, 2024
CDH23-AS12Sep 30, 2021
CDH31Sep 14, 2016
CDHR15Sep 30, 2021
CDK132Sep 30, 2021
CDK161Jun 1, 2022
CDK5R21Jun 1, 2022
CDK5RAP210Sep 30, 2021
CDKL56Oct 15, 2021
CDKN1C1Sep 30, 2021
CDKN2A6Dec 16, 2021
CDT13Sep 30, 2021
CEACAM161Dec 16, 2021
CEACAM16-AS11Dec 16, 2021
CELSR11Jun 1, 2022
CELSR31Jun 1, 2022
CENPJ6Sep 30, 2021
CEP1201Sep 30, 2021
CEP1351Sep 30, 2021
CEP1524Sep 30, 2021
CEP1644Sep 30, 2021
CEP29027Dec 16, 2021
CEP85L6Sep 30, 2021
CERKL9Sep 30, 2021
CERS15Sep 30, 2021
CFAP4181Sep 30, 2021
CFAP418-AS11Sep 30, 2021
CFAP921Sep 30, 2021
CFB11Oct 15, 2021
CFC15Sep 30, 2021
CFD2Oct 15, 2021
CFH16Dec 16, 2021
CFHR13Sep 30, 2021
CFHR21Oct 15, 2021
CFHR34Sep 30, 2021
CFHR44Sep 30, 2021
CFHR55Sep 30, 2021
CFI9Dec 16, 2021
CFP3Sep 30, 2021
CFTR50Dec 16, 2021
CFTR-AS14Sep 30, 2021
CHAT4Sep 30, 2021
CHCHD103Sep 30, 2021
CHD22Jun 1, 2022
CHD31Sep 30, 2021
CHD741Dec 16, 2021
CHD81Sep 30, 2021
CHEK237Dec 16, 2021
CHKB-CPT1B2Sep 30, 2021
CHM2Sep 30, 2021
CHRNA12Sep 30, 2021
CHRNA41Sep 30, 2021
CHRND1Sep 30, 2021
CHRNE1Sep 30, 2021
CHRNG2Sep 30, 2021
CHST31Sep 30, 2021
CIB22Sep 30, 2021
CITED21Oct 15, 2021
CLCN110Dec 16, 2021
CLCN52Dec 16, 2021
CLCN73Sep 30, 2021
CLCNKB15Oct 15, 2021
CLDN161Sep 30, 2021
CLDN191Sep 30, 2021
CLIC21Jun 1, 2022
CLN34Sep 30, 2021
CLN53Sep 30, 2021
CLN62Dec 16, 2021
CLPB1Sep 30, 2021
CLRN12May 13, 2024
CLSTN21Jun 1, 2022
CNGA11Sep 30, 2021
CNGA313Dec 16, 2021
CNGB110Sep 30, 2021
CNGB314Sep 30, 2021
COA81Oct 15, 2021
COCH3Sep 30, 2021
COL10A11Sep 30, 2021
COL11A125Sep 30, 2021
COL11A226Dec 16, 2021
COL18A11Sep 30, 2021
COL1A12Dec 16, 2021
COL1A27Sep 30, 2021
COL2A134Dec 16, 2021
COL3A12Sep 30, 2021
COL4A121Dec 16, 2021
COL4A22Sep 30, 2021
COL4A2-AS11Sep 30, 2021
COL4A335Dec 16, 2021
COL4A431Jul 30, 2024
COL4A58Oct 15, 2021
COL4A61Sep 30, 2021
COL5A21Sep 30, 2021
COL6A132Dec 16, 2021
COL6A227Dec 16, 2021
COL6A338Jul 30, 2024
COL7A123Sep 30, 2021
COL9A110Jul 30, 2024
COL9A215Sep 30, 2021
COL9A39Oct 15, 2021
COLQ3Dec 16, 2021
COMP1Sep 30, 2021
COMT3Sep 30, 2021
COQ8A9Sep 30, 2021
COQ8B1Sep 30, 2021
COX151Sep 30, 2021
CP11Dec 16, 2021
CPLANE13Sep 30, 2021
CPS18Dec 16, 2021
CPSF11Dec 16, 2021
CPT1A3Jul 30, 2024
CPT1B2Sep 30, 2021
CPT23Sep 30, 2021
CRB113Sep 30, 2021
CRB21Sep 30, 2021
CREBBP4Sep 30, 2021
CRELD15Sep 30, 2021
CRIPTO1Sep 30, 2021
CRLF11Sep 30, 2021
CRPPA2Sep 30, 2021
CRX3Sep 30, 2021
CRYAA1Sep 30, 2021
CRYAB7Sep 30, 2021
CRYBA13Sep 30, 2021
CRYBA41Sep 30, 2021
CRYBB31Sep 30, 2021
CRYGD1Sep 30, 2021
CRYM1Sep 30, 2021
CSNK2A12Jun 1, 2022
CSNK2B1Jun 1, 2022
CSRP316Sep 30, 2021
CTC14Sep 30, 2021
CTDP11Oct 15, 2021
CTNNA14Sep 30, 2021
CTNNA326Sep 30, 2021
CTNNB12Oct 15, 2021
CTNND21Sep 30, 2021
CTNS3Sep 30, 2021
CTNS-AS11Sep 30, 2021
CUBN1Dec 16, 2021
CUL31Oct 15, 2021
CUL73Sep 30, 2021
CUX11Jun 1, 2022
CXCR41Sep 30, 2021
CYGB2Sep 14, 2016
CYP11B13Sep 30, 2021
CYP11B27Sep 30, 2021
CYP19A13Sep 30, 2021
CYP1B11Sep 30, 2021
CYP21A26Sep 30, 2021
CYP24A13Sep 30, 2021
CYP27A110Oct 15, 2021
CYP2R11Sep 30, 2021
CYP2U11Sep 30, 2021
CYP4V24Sep 30, 2021
CYP7B13Sep 30, 2021
DARS22Dec 16, 2021
DBH2Sep 30, 2021
DCHS12Oct 15, 2021
DCTN13Jun 1, 2022
DCX4Sep 30, 2021
DDC1Sep 30, 2021
DDHD13Sep 30, 2021
DDHD22Sep 30, 2021
DDOST1Sep 30, 2021
DDX3X2Sep 30, 2021
DEAF11Sep 30, 2021
DEPDC52Sep 30, 2021
DES28Dec 16, 2021
DES-LCR1Sep 30, 2021
DGKE4Sep 30, 2021
DGUOK1Sep 30, 2021
DGUOK-AS11Sep 30, 2021
DHCR241Sep 30, 2021
DHCR712Dec 16, 2021
DHFR1Sep 30, 2021
DHTKD13Sep 30, 2021
DHX301Jun 1, 2022
DIAPH12Sep 30, 2021
DIAPH32Sep 30, 2021
DIAPH3-AS11Sep 30, 2021
DICER16Dec 16, 2021
DISP11Sep 30, 2021
DKC11Sep 30, 2021
DLD2Sep 30, 2021
DLG31Sep 30, 2021
DLL31Sep 30, 2021
DM1-AS1Sep 30, 2021
DMD5Sep 30, 2021
DMP12Sep 30, 2021
DMXL12Jun 1, 2022
DNA21Sep 30, 2021
DNAAF14Dec 16, 2021
DNAAF36Sep 30, 2021
DNAAF3-AS11Sep 30, 2021
DNAH51Sep 30, 2021
DNAI12Sep 30, 2021
DNASE1L11Sep 30, 2021
DNM1L1Sep 30, 2021
DNM26Sep 30, 2021
DNMT15Sep 30, 2021
DOCK61Sep 30, 2021
DOCK82Sep 30, 2021
DOK74Dec 16, 2021
DOLK1Oct 15, 2021
DPP68Oct 15, 2021
DRAM21Sep 30, 2021
DRP21Sep 30, 2021
DSC237Oct 15, 2021
DSCAS2Sep 30, 2021
DSE2Sep 30, 2021
DSG244Dec 16, 2021
DSG2-AS113Dec 16, 2021
DSP87Dec 16, 2021
DSP-AS16Sep 30, 2021
DSPP3Oct 15, 2021
DST1Sep 30, 2021
DTNA4Sep 30, 2021
DTX41Jun 1, 2022
DUSP292Sep 30, 2021
DYNC1H120Sep 30, 2021
DYNC2H140Oct 15, 2021
DYNC2LI11Sep 30, 2021
DYSF14Dec 16, 2021
EARS23Dec 16, 2021
ECEL11Sep 30, 2021
EDNRB1Sep 30, 2021
EDNRB-AS11Sep 30, 2021
EEF1A23Sep 30, 2021
EFEMP25Sep 30, 2021
EFNB11Sep 30, 2021
EFTUD24Dec 16, 2021
EGF2Sep 30, 2021
EHMT15Sep 30, 2021
EIF2B21Sep 30, 2021
EIF3F1Dec 16, 2021
ELN8Sep 30, 2021
ELN-AS13Sep 30, 2021
EMD11Sep 30, 2021
ENG1Sep 30, 2021
ENPP13Sep 30, 2021
EP3004Jun 1, 2022
EPCAM2Sep 30, 2021
EPG53Sep 30, 2021
EPHB21Sep 30, 2021
ERCC21Sep 30, 2021
ERCC612Sep 30, 2021
ERF1Sep 30, 2021
ESCO21Sep 30, 2021
ESPN4Sep 30, 2021
ESR11Sep 30, 2021
ESRRB1Sep 30, 2021
ETFDH1Sep 30, 2021
ETHE11Sep 30, 2021
EVC12Sep 30, 2021
EXOSC31Sep 30, 2021
EXOSC81Dec 16, 2021
EXTL31Sep 30, 2021
EYA16Sep 30, 2021
EYA44Sep 30, 2021
EYS53Jun 17, 2024
F103Sep 30, 2021
F127Sep 30, 2021
F13A12Sep 30, 2021
F13B3Sep 30, 2021
F21Sep 30, 2021
F511Sep 30, 2021
F73Sep 30, 2021
F810Sep 30, 2021
FA2H8Sep 30, 2021
FAH2Sep 30, 2021
FAM161A6Sep 30, 2021
FAM20A1Sep 30, 2021
FAN11Sep 30, 2021
FANCA1Sep 30, 2021
FANCC1Sep 30, 2021
FANCD21Sep 30, 2021
FANCI4Sep 30, 2021
FANCL1Sep 30, 2021
FAS2Sep 30, 2021
FAT49Sep 30, 2021
FBLN52Sep 30, 2021
FBN117Dec 16, 2021
FBN29Dec 16, 2021
FBP14Sep 30, 2021
FBXL31Sep 30, 2021
FBXO381Oct 15, 2021
FGA3Sep 30, 2021
FGB2Sep 30, 2021
FGD12Sep 30, 2021
FGD41Sep 30, 2021
FGF141Sep 30, 2021
FGF231Sep 30, 2021
FGF32Sep 30, 2021
FGF94Sep 30, 2021
FGFR16Sep 30, 2021
FGFR220Oct 15, 2021
FGFR335Dec 16, 2021
FH13Sep 30, 2021
FHL17Sep 30, 2021
FHOD32Sep 30, 2021
FIG41Sep 30, 2021
FKRP1Sep 30, 2021
FKTN2Sep 30, 2021
FLCN13Sep 30, 2021
FLG31Dec 16, 2021
FLNA13Dec 16, 2021
FLNB1Sep 30, 2021
FLNC107Dec 16, 2021
FLNC-AS136Oct 15, 2021
FLT45Sep 30, 2021
FLVCR14Sep 30, 2021
FMO33Sep 30, 2021
FN19Dec 16, 2021
FN1-DT1Sep 30, 2021
FOXC11Sep 30, 2021
FOXE31Sep 30, 2021
FOXG11Sep 30, 2021
FOXH14Sep 30, 2021
FOXI12Sep 30, 2021
FOXP13Jun 1, 2022
FOXP21Sep 30, 2021
FOXP31Sep 30, 2021
FPGT-TNNI3K9Sep 30, 2021
FRAS12Sep 30, 2021
FTCD4Sep 30, 2021
FTH16Sep 30, 2021
FTL3Sep 30, 2021
FUCA12Sep 30, 2021
FXN4Sep 30, 2021
FYCO11Sep 30, 2021
G6PC12Sep 30, 2021
GAA26Dec 16, 2021
GABRA11Sep 30, 2021
GABRQ1Sep 30, 2021
GAD11Sep 30, 2021
GALC5Jul 30, 2024
GALT3Sep 30, 2021
GAREM21Sep 30, 2021
GARS110Oct 15, 2021
GATA11Sep 30, 2021
GATA26Sep 30, 2021
GATA415Dec 16, 2021
GATA55Sep 30, 2021
GATA65Dec 16, 2021
GATAD11Sep 30, 2021
GATM2Oct 15, 2021
GBA12Sep 30, 2021
GBE16Sep 30, 2021
GCK1Dec 16, 2021
GCNT21Sep 30, 2021
GDAP12Sep 30, 2021
GDF15Sep 30, 2021
GDF21Sep 30, 2021
GDF52Sep 30, 2021
GDF5-AS12Sep 30, 2021
GFAP2Dec 16, 2021
GFM13Dec 16, 2021
GGCX1Sep 30, 2021
GH-LCR4Dec 16, 2021
GHRHR1Dec 16, 2021
GHSR2Oct 15, 2021
GJA13Sep 30, 2021
GJA52Sep 30, 2021
GJA81Dec 16, 2021
GJB11Sep 30, 2021
GJB223Dec 16, 2021
GJB31Sep 30, 2021
GJB41Sep 30, 2021
GJB63Sep 30, 2021
GJC22Sep 30, 2021
GJD2-DT15Oct 15, 2021
GLA16Oct 15, 2021
GLB19Sep 30, 2021
GLI26Sep 30, 2021
GLIS21Sep 30, 2021
GLMN2Dec 16, 2021
GLUD11Sep 30, 2021
GML1Sep 30, 2021
GNA114Sep 30, 2021
GNAI21Sep 30, 2021
GNAS2Sep 30, 2021
GNAT11Sep 30, 2021
GNB51Sep 30, 2021
GNE1Dec 16, 2021
GNPTAB1Sep 30, 2021
GOSR23Sep 30, 2021
GP1BA2Sep 30, 2021
GP91Sep 30, 2021
GPD1L8Oct 15, 2021
GPHN4Sep 30, 2021
GPR1431Dec 16, 2021
GRHL21Sep 30, 2021
GRHPR2Sep 30, 2021
GRIA31Sep 30, 2021
GRIK23Sep 30, 2021
GRIN12Sep 30, 2021
GRIN2A3Sep 30, 2021
GRIN2B9Jun 1, 2022
GRM11Sep 30, 2021
GRM65Sep 30, 2021
GRN1Sep 30, 2021
GRPR1Sep 30, 2021
GRXCR11Sep 30, 2021
GSS1Sep 30, 2021
GUCA1B1Sep 30, 2021
GUCY2D9Dec 16, 2021
GUSB1Dec 16, 2021
GYG11Dec 16, 2021
GYS12Oct 15, 2021
GYS23Sep 30, 2021
HADHA1Sep 30, 2021
HADHB1Sep 30, 2021
HAND11Sep 30, 2021
HARS12Mar 18, 2024
HAX11Sep 30, 2021
HBB2Oct 15, 2021
HCN427Oct 15, 2021
HDAC46Sep 30, 2021
HERC21Sep 30, 2021
HEXA3Dec 16, 2021
HEY22Dec 16, 2021
HFE1Sep 30, 2021
HFE-AS11Sep 30, 2021
HGD1Sep 30, 2021
HGF1Sep 30, 2021
HGSNAT7Sep 30, 2021
HIGD2B1Sep 30, 2021
HMBS1Sep 30, 2021
HMGCL2Sep 30, 2021
HNF1B1Sep 30, 2021
HNF4A1Dec 16, 2021
HNRNPH21Sep 30, 2021
HNRNPK1Jun 1, 2022
HNRNPUL2-BSCL23Sep 30, 2021
HOGA11Sep 30, 2021
HOXB12Sep 30, 2021
HOXB131Sep 30, 2021
HPGD1Sep 30, 2021
HPS51Sep 30, 2021
HRAS5Sep 30, 2021
HRC1Sep 30, 2021
HS6ST11Sep 30, 2021
HSD17B101Jun 1, 2022
HSD17B32Jul 30, 2024
HSD17B42Sep 30, 2021
HSF41Oct 15, 2021
HSPB11Dec 16, 2021
HSPB32Sep 30, 2021
HSPB81Sep 30, 2021
HSPD12Sep 30, 2021
HSPG22Sep 30, 2021
IDUA13Sep 30, 2021
IFT1224Sep 30, 2021
IFT1404Jul 30, 2024
IFT1721Dec 16, 2021
IFT431Sep 30, 2021
IFT803Sep 30, 2021
IGHMBP210Sep 30, 2021
IGLL11Sep 30, 2021
IHH2Sep 30, 2021
IL12RB12Sep 30, 2021
IL1RAPL12Sep 30, 2021
ILK2Sep 30, 2021
IMPDH12Sep 30, 2021
IMPG28Sep 30, 2021
INF210Sep 30, 2021
INSL61Dec 16, 2021
IQCB16Sep 30, 2021
IQSEC22Dec 16, 2021
IRAK41Sep 30, 2021
IRF2BPL1Sep 30, 2021
IRX42Dec 16, 2021
ITGA2B2Dec 16, 2021
ITGB22Sep 30, 2021
ITGB33Sep 30, 2021
ITPR14Sep 30, 2021
IVD1Sep 30, 2021
JAG115Sep 30, 2021
JAK21Dec 16, 2021
JAK31Sep 30, 2021
JPH228Oct 15, 2021
JUP30Dec 16, 2021
KANSL12Sep 30, 2021
KAT6A1Sep 30, 2021
KAT6B3Jun 1, 2022
KAT81Jun 1, 2022
KBTBD135Sep 30, 2021
KCNA14Sep 30, 2021
KCNA21Dec 16, 2021
KCNA54Sep 30, 2021
KCNC31Sep 30, 2021
KCND31Sep 30, 2021
KCNE13Sep 30, 2021
KCNE22Dec 16, 2021
KCNE31Sep 30, 2021
KCNH11Sep 30, 2021
KCNH228Dec 16, 2021
KCNJ101Sep 30, 2021
KCNJ114Oct 15, 2021
KCNJ22Sep 30, 2021
KCNJ55Sep 30, 2021
KCNJ82Sep 30, 2021
KCNK91Sep 30, 2021
KCNMA11Sep 30, 2021
KCNMA1-AS11Sep 30, 2021
KCNQ134Dec 16, 2021
KCNQ1-AS13Sep 30, 2021
KCNQ1OT14Sep 30, 2021
KCNQ28Sep 30, 2021
KCNQ33Dec 16, 2021
KCNQ47Sep 30, 2021
KCNT17Sep 30, 2021
KCNV23Sep 30, 2021
KDM2B1Jun 1, 2022
KDM5C4Oct 15, 2021
KDM6A3Sep 30, 2021
KDM6B71Sep 9, 2022
KERA1Sep 30, 2021
KIAA05861Sep 30, 2021
KIF111Sep 30, 2021
KIF1A5Sep 30, 2021
KIF1B4Sep 30, 2021
KIF1C1Sep 30, 2021
KIF21A1Sep 30, 2021
KIF231Sep 30, 2021
KIF5A6Dec 16, 2021
KIF714Sep 30, 2021
KIRREL21Sep 30, 2021
KISS11Sep 30, 2021
KISS1R1Sep 30, 2021
KIT2Oct 15, 2021
KLLN1Sep 30, 2021
KMT2A4Sep 30, 2021
KMT2B1Jun 1, 2022
KMT2C2Sep 30, 2021
KMT2D9Jun 1, 2022
KRAS8Jul 12, 2022
KRT91Sep 30, 2021
KRTCAP31Dec 16, 2021
L1CAM1Sep 30, 2021
LAMA13Oct 15, 2021
LAMA234Jul 30, 2024
LAMA445Sep 30, 2021
LAMB22Sep 30, 2021
LAMB31Sep 30, 2021
LAMC31Sep 30, 2021
LAMP216Oct 15, 2021
LARGE14Sep 30, 2021
LAS1L1Jun 1, 2022
LCA52Sep 30, 2021
LCT7Sep 30, 2021
LDB349Dec 16, 2021
LDLR4Oct 15, 2021
LEFTY23Dec 16, 2021
LHCGR3Sep 30, 2021
LIFR1Sep 30, 2021
LINC013891Sep 30, 2021
LIPT21Sep 30, 2021
LIX1L-AS12Sep 30, 2021
LMBRD21Jun 1, 2022
LMNA51Dec 16, 2021
LMOD11Sep 30, 2021
LMX1B3Sep 30, 2021
LOC1005060713Sep 30, 2021
LOC1005074431Sep 30, 2021
LOC1019270556Oct 15, 2021
LOC1019271571Sep 30, 2021
LOC1019293052Sep 30, 2021
LOC1019297101Sep 30, 2021
LOC1027240587Sep 30, 2021
LOC1053708904Oct 15, 2021
LOC1053710462Jul 30, 2024
LOC10537156615Sep 30, 2021
LOC1053727912Dec 16, 2021
LOC1053783111Jul 30, 2024
LOC1060293123Sep 30, 2021
LOC1060990622Oct 15, 2021
LOC10650171314Oct 15, 2021
LOC1066279812Sep 30, 2021
LOC1066943161Sep 30, 2021
LOC1067808005Sep 30, 2021
LOC1067808031Sep 30, 2021
LOC1067998331Sep 30, 2021
LOC1067998347Sep 30, 2021
LOC1070753172Sep 30, 2021
LOC1071335102Oct 15, 2021
LOC1073033381Sep 30, 2021
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TMPPE2Sep 30, 2021
TMPRSS310Oct 15, 2021
TMPRSS65Sep 30, 2021
TNFRSF13B2Oct 15, 2021
TNFRSF1A1Sep 30, 2021
TNNC13Sep 30, 2021
TNNI322Oct 15, 2021
TNNI3K9Sep 30, 2021
TNNT12Sep 30, 2021
TNNT240Oct 15, 2021
TNXB6Sep 30, 2021
TOE11Sep 30, 2021
TOPORS1Sep 14, 2016
TOR1A5Sep 30, 2021
TP5314Dec 16, 2021
TP53BP11Sep 30, 2021
TP634Dec 16, 2021
TPM128Oct 15, 2021
TPM22Sep 30, 2021
TPP12Sep 30, 2021
TPRN2Sep 30, 2021
TRAPPC113Sep 30, 2021
TRAPPC96Sep 30, 2021
TRB4Sep 30, 2021
TRDN16Oct 15, 2021
TRDN-AS11Sep 30, 2021
TREX11Sep 30, 2021
TRIM59-IFT803Sep 30, 2021
TRIM635Sep 30, 2021
TRIO2Sep 30, 2021
TRIOBP8Sep 30, 2021
TRPC62Sep 30, 2021
TRPM12Sep 30, 2021
TRPM418Sep 30, 2021
TRPM62Dec 16, 2021
TRPV420Dec 16, 2021
TSC17Jun 1, 2022
TSC23Dec 16, 2021
TSEN546Sep 30, 2021
TSHZ16Sep 30, 2021
TSPAN11Sep 30, 2021
TSPAN121Sep 30, 2021
TTC21B1Sep 30, 2021
TTC21B-AS11Sep 30, 2021
TTLL51Sep 14, 2016
TTN765Dec 16, 2021
TTN-AS1420Dec 16, 2021
TTPA3Sep 30, 2021
TTR10Sep 30, 2021
TUBA1A4Sep 30, 2021
TUBB2B1Sep 30, 2021
TUBB32Sep 30, 2021
TUBB4A1Sep 30, 2021
TUBGCP41Sep 30, 2021
TULP13Sep 30, 2021
TWIST11Sep 30, 2021
TYK23Sep 30, 2021
TYMP2Dec 16, 2021
TYR4Sep 30, 2021
UBA11Sep 30, 2021
UBE3A4Sep 30, 2021
UGT1A3Sep 30, 2021
UGT1A13Sep 30, 2021
UGT1A103Sep 30, 2021
UGT1A33Sep 30, 2021
UGT1A43Sep 30, 2021
UGT1A53Sep 30, 2021
UGT1A63Sep 30, 2021
UGT1A73Sep 30, 2021
UGT1A83Sep 30, 2021
UGT1A93Sep 30, 2021
UMOD3Sep 30, 2021
UMODL11Jun 1, 2022
UNC13D1Sep 30, 2021
UNC93B11Jul 30, 2024
USH1C8Sep 30, 2021
USH1G2Sep 30, 2021
USH2A114Jul 30, 2024
USH2A-AS110Sep 30, 2021
USH2A-AS24Sep 30, 2021
VANGL11Oct 15, 2021
VCL43Dec 16, 2021
VCP5Sep 30, 2021
VDR2Sep 30, 2021
VHL6Sep 30, 2021
VPS13B10Sep 30, 2021
VPS33B1Sep 30, 2021
VRK21Sep 30, 2021
VSX22Sep 14, 2016
VWF38Dec 16, 2021
WASHC54Sep 30, 2021
WDPCP2Sep 30, 2021
WDR111Sep 30, 2021
WDR132Sep 30, 2021
WDR194Sep 30, 2021
WDR3510Sep 30, 2021
WDR451Sep 30, 2021
WDR6218Sep 30, 2021
WDR731Sep 30, 2021
WFS130Dec 16, 2021
WHRN1Sep 30, 2021
WNK116Jul 30, 2024
WNT10A2Dec 16, 2021
WNT10B2Sep 30, 2021
WRAP532Dec 16, 2021
WRN7Sep 30, 2021
WT11Sep 30, 2021
XIRP23Sep 30, 2021
YARS21Sep 30, 2021
ZBTB181Sep 30, 2021
ZC4H21Sep 30, 2021
ZDHHC247Sep 30, 2021
ZDHHC91Sep 30, 2021
ZEB21Sep 30, 2021
ZFPM22Sep 30, 2021
ZFPM2-AS11Sep 30, 2021
ZFYVE2616Oct 15, 2021
ZIC21Sep 30, 2021
ZIC33Sep 30, 2021
ZMYM31Sep 30, 2021
ZNF4081Sep 30, 2021
ZNF4544Sep 30, 2021
ZNF46915Sep 30, 2021
ZNF5921Sep 30, 2021
ZNF6442Sep 30, 2021

Condition

NameSubmissionsLast Updated
Achromatopsia 23Sep 14, 2016
Age related macular degeneration 23Sep 14, 2016
Asphyxiating thoracic dystrophy 39Mar 30, 2021
Autosomal dominant optic atrophy classic form1Sep 14, 2016
Bardet-Biedl syndrome 13Sep 14, 2016
Bardet-Biedl syndrome 121Sep 14, 2016
Bardet-Biedl syndrome 52Sep 14, 2016
Branchiootorenal syndrome 11Sep 14, 2016
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Sep 10, 2021
Cataract 10 multiple types1Sep 14, 2016
Chronic kidney disease1Jul 14, 2021
Cone dystrophy3Sep 14, 2016
Cone-rod dystrophy11Sep 14, 2016
Cone-rod dystrophy 121Sep 14, 2016
Cone-rod dystrophy 63Sep 14, 2016
Cone-rod synaptic disorder, congenital nonprogressive1Sep 14, 2016
Congenital aniridia1Sep 14, 2016
Cranioectodermal dysplasia 23Mar 30, 2021
Epsilon-trimethyllysine hydroxylase deficiency1Oct 5, 2021
Hearing impairment17Jul 30, 2024
Hereditary disease1Jul 30, 2024
Hypokalemia2Jul 14, 2021
Hypomagnesemia2Jul 14, 2021
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial1Jul 14, 2021
Immunodeficiency1Jul 30, 2024
Interstitial nephritis1Jul 10, 2021
Kidney disorder5Jul 30, 2024
Leber congenital amaurosis6Sep 14, 2016
Leber congenital amaurosis 11Sep 14, 2016
Leber congenital amaurosis 101Sep 14, 2016
Leber congenital amaurosis 22Sep 14, 2016
Leber congenital amaurosis 32Sep 14, 2016
Leber congenital amaurosis 62Sep 14, 2016
Macular dystrophy4Jun 17, 2024
Male infertility with azoospermia or oligozoospermia due to single gene mutation4Jul 22, 2021
Metabolic disease1Jul 30, 2024
Movement disorder2Jul 30, 2024
Muscle tissue disorder5Jul 30, 2024
Nanophthalmia1Sep 14, 2016
Neurodegeneration, infantile-onset, biotin-responsive2Feb 15, 2022
Neurodevelopmental disorder31Jan 10, 2021
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities71Sep 9, 2022
Noonan syndrome 32Jul 12, 2022
Noonan syndrome 42Jul 12, 2022
Noonan syndrome 81Jul 12, 2022
Peripheral neuropathy1Jul 30, 2024
Retinal dystrophy5Sep 14, 2016
Retinitis pigmentosa18Sep 14, 2016
Retinitis pigmentosa 14Sep 14, 2016
Retinitis pigmentosa 101Sep 14, 2016
Retinitis pigmentosa 112Sep 14, 2016
Retinitis pigmentosa 193Sep 14, 2016
Retinitis pigmentosa 21Sep 14, 2016
Retinitis pigmentosa 203Sep 14, 2016
Retinitis pigmentosa 2515Sep 14, 2016
Retinitis pigmentosa 271Sep 14, 2016
Retinitis pigmentosa 281Sep 14, 2016
Retinitis pigmentosa 36Sep 14, 2016
Retinitis pigmentosa 311Sep 14, 2016
Retinitis pigmentosa 362Sep 14, 2016
Retinitis pigmentosa 3920Sep 14, 2016
Retinitis pigmentosa 41Sep 14, 2016
Retinitis pigmentosa 409Sep 14, 2016
Retinitis pigmentosa 411Sep 14, 2016
Retinitis pigmentosa 451Sep 14, 2016
Senior-Loken syndrome 52Sep 14, 2016
Severe early-childhood-onset retinal dystrophy6Sep 14, 2016
Sex development disorder1Jul 30, 2024
Stargardt disease2Sep 14, 2016
Usher syndrome2Sep 14, 2016
Usher syndrome type 1D3Sep 14, 2016
Usher syndrome type 2A7Sep 14, 2016
Usher syndrome type 2C1Sep 14, 2016
Usher syndrome type 31Sep 14, 2016
Usher syndrome type 3A1May 13, 2024
Visual impairment6Jul 30, 2024
Vitelliform macular dystrophy 21Sep 14, 2016
Vitelliform macular dystrophy 51Sep 14, 2016
X-linked cone-rod dystrophy 11Sep 14, 2016
not provided5339Mar 18, 2024
not specified4587Dec 16, 2021