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Human Genetics - Radboudumc (Radboudumc)

General information

Human Genetics - Radboudumc
Radboudumc
Geert grooteplein zuid 10
Nijmegen
Netherlands - 6525 GA
https://www.radboudumc.nl/Research/Organisationofresearch/Departments/HumanGenetics/Pages/default.aspx
Organization ID: 505925

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 10095

Gene

GeneSubmissionsLast Updated
A2ML134Dec 16, 2021
AAAS1Sep 30, 2021
AAGAB2Dec 16, 2021
AARS12Sep 30, 2021
ABCA122Sep 30, 2021
ABCA470Dec 16, 2021
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
ACTA13Sep 30, 2021
ACTA22Sep 30, 2021
ACTB3Sep 30, 2021
ACTC115Oct 15, 2021
ACTG113Oct 15, 2021
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
ADCY58Dec 16, 2021
ADGRV123Sep 30, 2021
ADNP1Sep 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
ANKRD1110Oct 15, 2021
ANLN1Dec 16, 2021
ANO105Sep 30, 2021
ANO31Sep 30, 2021
ANO55Sep 30, 2021
ANOS13Sep 30, 2021
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
ARX1Sep 30, 2021
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
BRWD31Sep 30, 2021
BSCL23Sep 30, 2021
BSND1Sep 30, 2021
BTD1Sep 30, 2021
BTK1Sep 30, 2021
C10orf1057Sep 30, 2021
C11orf6551Dec 16, 2021
C12orf571Sep 30, 2021
C17orf1071Sep 30, 2021
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
CACNA1C40Oct 15, 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
CAV311Oct 15, 2021
CBL8Sep 30, 2021
CBS6Oct 15, 2021
CC2D2A8Oct 15, 2021
CCDC402Sep 30, 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
CDH21Sep 30, 2021
CDH2338Oct 15, 2021
CDH23-AS12Sep 30, 2021
CDH31Sep 14, 2016
CDHR15Sep 30, 2021
CDK132Sep 30, 2021
CDK5RAP210Sep 30, 2021
CDKL56Oct 15, 2021
CDKN1C1Sep 30, 2021
CDKN2A6Dec 16, 2021
CDT13Sep 30, 2021
CEACAM161Dec 16, 2021
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
CFTR50Oct 15, 2021
CFTR-AS14Sep 30, 2021
CHAT4Sep 30, 2021
CHCHD103Sep 30, 2021
CHD21Sep 30, 2021
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
CLN34Sep 30, 2021
CLN53Sep 30, 2021
CLN62Dec 16, 2021
CLPB1Sep 30, 2021
CLRN12Sep 14, 2016
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
COL4A430Oct 15, 2021
COL4A58Oct 15, 2021
COL4A61Sep 30, 2021
COL5A21Sep 30, 2021
COL6A132Dec 16, 2021
COL6A227Dec 16, 2021
COL6A337Dec 16, 2021
COL7A123Sep 30, 2021
COL9A19Sep 30, 2021
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
CPT1A2Sep 30, 2021
CPT1B2Sep 30, 2021
CPT23Sep 30, 2021
CRB113Sep 30, 2021
CRB21Sep 30, 2021
CREBBP4Sep 30, 2021
CRELD15Sep 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
CSNK2A11Sep 30, 2021
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
CUX21Sep 30, 2021
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
DCTN12Sep 30, 2021
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
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
DNA21Sep 30, 2021
DNAAF14Dec 16, 2021
DNAAF36Sep 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
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
EP3003Oct 15, 2021
EPCAM2Sep 30, 2021
EPG53Sep 30, 2021
EPHB21Sep 30, 2021
ERCC21Sep 30, 2021
ERCC612Sep 30, 2021
ERCC6-PGBD34Sep 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
EYS53Sep 30, 2021
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
FLG-AS12Oct 15, 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
FOXC11Sep 30, 2021
FOXE31Sep 30, 2021
FOXG11Sep 30, 2021
FOXH14Sep 30, 2021
FOXI12Sep 30, 2021
FOXP12Sep 30, 2021
FOXP21Sep 30, 2021
FOXP31Sep 30, 2021
FPGT-TNNI3K9Sep 30, 2021
FRAS12Sep 30, 2021
FTCD4Sep 30, 2021
FTH13Sep 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
GALC4Sep 30, 2021
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
GBA2Sep 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
GRIN2B8Sep 30, 2021
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
HARS12Oct 15, 2021
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
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
HSD17B31Sep 30, 2021
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
IFT1403Sep 30, 2021
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
KAT6B2Sep 30, 2021
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
KDM5C4Oct 15, 2021
KDM6A3Sep 30, 2021
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
KMT2C2Sep 30, 2021
KMT2D8Dec 16, 2021
KRAS6Oct 15, 2021
KRT91Sep 30, 2021
KRTCAP31Dec 16, 2021
L1CAM1Sep 30, 2021
LAMA13Oct 15, 2021
LAMA232Dec 16, 2021
LAMA445Sep 30, 2021
LAMB22Sep 30, 2021
LAMB31Sep 30, 2021
LAMC31Sep 30, 2021
LAMP216Oct 15, 2021
LARGE14Sep 30, 2021
LCA52Sep 30, 2021
LCT7Sep 30, 2021
LDB349Dec 16, 2021
LDLR4Sep 30, 2021
LEFTY23Dec 16, 2021
LHCGR3Sep 30, 2021
LIFR1Sep 30, 2021
LINC013891Sep 30, 2021
LIPT21Sep 30, 2021
LIX1L-AS12Sep 30, 2021
LMNA51Dec 16, 2021
LMOD11Sep 30, 2021
LMX1B3Sep 30, 2021
LOC1001307984Sep 30, 2021
LOC1005060713Sep 30, 2021
LOC1005074431Sep 30, 2021
LOC1019270556Oct 15, 2021
LOC1019271571Sep 30, 2021
LOC1019297101Sep 30, 2021
LOC1027240587Sep 30, 2021
LOC1053710461Sep 30, 2021
LOC10537156615Sep 30, 2021
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
LOC1073033403Sep 30, 2021
LOC1073723152Sep 30, 2021
LOC1076524451Sep 30, 2021
LOC1082811341Sep 30, 2021
LOC1101212696Sep 30, 2021
LOC11012128814Sep 30, 2021
LOC1101214865Sep 30, 2021
LOC1108063061Sep 30, 2021
LOC1115892155Sep 30, 2021
LOC1116744631Sep 30, 2021
LOC1116744726Sep 30, 2021
LOC1116744756Sep 30, 2021
LOC1116744771Sep 30, 2021
LOC1118119651Dec 16, 2021
LOC1125336711Sep 30, 2021
LOC1125336721Sep 30, 2021
LOC1128060371Sep 30, 2021
LOC1136338771Sep 30, 2021
LOC1136641061Sep 30, 2021
LOC1136871751Sep 30, 2021
LOC1139399442Sep 30, 2021
LOC1148278271Sep 30, 2021
LOC1148278503Sep 30, 2021
LOC11482785114Sep 30, 2021
LOC1208931161Sep 30, 2021
LOC1211753501Sep 30, 2021
LOC1221284201Sep 30, 2021
LOC1221522961Sep 30, 2021
LOC1238640653Sep 30, 2021
LOXHD19Sep 30, 2021
LPIN11Sep 30, 2021
LPIN21Sep 30, 2021
LPL1Sep 30, 2021
LRBA7Sep 30, 2021
LRP223Dec 16, 2021
LRP43Sep 30, 2021
LRP514Sep 30, 2021
LRRC21Sep 30, 2021
LRRC37A23Sep 30, 2021
LRRC532Sep 30, 2021
LRRC565Sep 30, 2021
LRRK28Sep 30, 2021
LTBP23Dec 16, 2021
LYST1Sep 30, 2021
LZTR118Sep 30, 2021
MAOA1Sep 30, 2021
MAP2K13Sep 30, 2021
MAP2K28Sep 30, 2021
MAPT7Sep 30, 2021
MAT1A3Sep 30, 2021
MATN31Sep 30, 2021
MBTPS21Sep 30, 2021
MCCC12Sep 30, 2021
MCCC23Sep 30, 2021
MCFD21Sep 30, 2021
MCM3AP1Oct 15, 2021
MCOLN11Sep 30, 2021
MCPH118Sep 30, 2021
MCPH1-AS17Sep 30, 2021
MDH23Sep 30, 2021
MDN11Sep 30, 2021
MDN1-AS11Sep 30, 2021
MEA12Sep 30, 2021
MECP221Dec 16, 2021
MED1211Sep 30, 2021
MED12L1Sep 30, 2021
MED13L6Sep 30, 2021
MEFV10Oct 15, 2021
MEGF102Sep 30, 2021
MEN110Sep 30, 2021
MEOX11Sep 30, 2021
MERTK1Sep 30, 2021
MET13Dec 16, 2021
MFF-DT35Dec 16, 2021
MFN24Sep 30, 2021
MFRP6Sep 30, 2021
MFSD81Sep 30, 2021
MHRT22Dec 16, 2021
MIB120Oct 15, 2021
MID11Sep 30, 2021
MILR11Sep 30, 2021
MIR4713HG3Sep 30, 2021
MITF2Oct 15, 2021
MKKS9Sep 30, 2021
MKS12Sep 30, 2021
MLH151Dec 16, 2021
MMAA3Oct 15, 2021
MMAB1Sep 30, 2021
MMACHC5Dec 16, 2021
MME1Sep 30, 2021
MMP22Sep 30, 2021
MMUT4Sep 30, 2021
MOCS12Sep 30, 2021
MPDZ1Sep 30, 2021
MPI1Sep 30, 2021
MPL1Sep 30, 2021
MPO3Sep 30, 2021
MPZ2Dec 16, 2021
MPZL21Sep 30, 2021
MSH248Dec 16, 2021
MSH31Sep 30, 2021
MSH644Dec 16, 2021
MSX12Oct 15, 2021
MT-TF3Jul 14, 2021
MT-TI1Jul 14, 2021
MTHFR10Dec 16, 2021
MTM11Sep 30, 2021
MTMR101Sep 30, 2021
MTOR1Sep 30, 2021
MTPAP2Sep 30, 2021
MTTP2Oct 15, 2021
MUSK2Sep 30, 2021
MUTYH22Dec 16, 2021
MVK12Sep 30, 2021
MYBPC17Sep 30, 2021
MYBPC3135Dec 16, 2021
MYCN1Sep 30, 2021
MYCNOS1Sep 30, 2021
MYH1122Oct 15, 2021
MYH1412Dec 16, 2021
MYH25Sep 30, 2021
MYH318Sep 30, 2021
MYH6125Dec 16, 2021
MYH7136Dec 16, 2021
MYH7B2Sep 30, 2021
MYH916Dec 16, 2021
MYHAS5Sep 30, 2021
MYL215Sep 30, 2021
MYL313Sep 30, 2021
MYLK15Sep 30, 2021
MYLK-AS11Sep 30, 2021
MYLK28Sep 30, 2021
MYO15A25Sep 30, 2021
MYO1E1Sep 30, 2021
MYO3A10Sep 30, 2021
MYO69Oct 15, 2021
MYO7A28Dec 16, 2021
MYORG1Sep 30, 2021
MYOT1Sep 30, 2021
MYOZ29Sep 30, 2021
MYPN43Oct 15, 2021
MYT1L4Sep 30, 2021
NAA102Sep 30, 2021
NAE11Sep 30, 2021
NAGLU1Sep 30, 2021
NBAS2Sep 30, 2021
NBEA1Sep 30, 2021
NBEAL28Oct 15, 2021
NBN8Dec 16, 2021
NCF13Sep 30, 2021
NDE111Oct 15, 2021
NDP1Sep 30, 2021
NDP-AS11Sep 30, 2021
NDRG11Sep 30, 2021
NDUFAF51Sep 30, 2021
NDUFS71Sep 30, 2021
NEB6Dec 16, 2021
NEBL5Sep 30, 2021
NEK81Sep 30, 2021
NEXMIF1Sep 30, 2021
NEXN18Oct 15, 2021
NF132Dec 16, 2021
NF24Sep 30, 2021
NFU12Sep 30, 2021
NGLY11Sep 30, 2021
NHS1Sep 30, 2021
NIPA11Sep 30, 2021
NIPAL44Sep 30, 2021
NIPBL3Sep 30, 2021
NKAP1Sep 30, 2021
NKX2-54Sep 30, 2021
NKX3-21Sep 30, 2021
NLGN4X4Sep 30, 2021
NLRC41Oct 15, 2021
NLRP310Oct 15, 2021
NMNAT11Sep 30, 2021
NNT1Sep 30, 2021
NODAL5Sep 30, 2021
NOP101Sep 30, 2021
NOTCH166Dec 16, 2021
NOTCH22Sep 30, 2021
NOTCH31Dec 16, 2021
NPC112Sep 30, 2021
NPHP14Sep 30, 2021
NPHP33Dec 16, 2021
NPHP3-ACAD113Dec 16, 2021
NPHP44Sep 30, 2021
NPHS110Oct 15, 2021
NPHS27Sep 30, 2021
NPPA1Sep 30, 2021
NPPA-AS11Sep 30, 2021
NR2E37Dec 16, 2021
NR3C11Dec 16, 2021
NR3C23Sep 30, 2021
NR5A12Sep 30, 2021
NRAS2Dec 16, 2021
NRL2Sep 30, 2021
NSD113Sep 30, 2021
NSDHL3Sep 30, 2021
NSUN66Sep 30, 2021
NT5DC11Sep 30, 2021
NT5E2Sep 30, 2021
NTHL12Sep 30, 2021
NTNG11Sep 30, 2021
NTRK18Sep 30, 2021
NYX1Sep 30, 2021
OAT3Sep 30, 2021
OBSCN13Sep 30, 2021
OBSL115Sep 30, 2021
OCA25Sep 30, 2021
OCRL2Sep 30, 2021
ODAD11Sep 30, 2021
OFD11Sep 30, 2021
OPA15Sep 30, 2021
OPA1-AS11Sep 30, 2021
OPHN11Sep 30, 2021
OPN1LW1Oct 15, 2021
OPN1MW1Dec 16, 2021
OPTN1Sep 30, 2021
ORC41Sep 30, 2021
ORC62Sep 30, 2021
OSBPL22Oct 15, 2021
OSGEP2Sep 30, 2021
OTC2Sep 30, 2021
OTOA2Sep 30, 2021
OTOF5Sep 30, 2021
OTOG17Sep 30, 2021
OTOGL11Sep 30, 2021
OTOP21Sep 30, 2021
OXCT11Sep 30, 2021
OXTR10Oct 15, 2021
P2RY121Sep 30, 2021
PACS11Sep 30, 2021
PADI32Sep 30, 2021
PAH21Oct 15, 2021
PAK31Sep 30, 2021
PALB255Dec 16, 2021
PANK24Sep 30, 2021
PAPSS21Oct 15, 2021
PARN1Sep 30, 2021
PAX24Sep 30, 2021
PAX31Sep 30, 2021
PAX62Dec 16, 2021
PCARE2Sep 30, 2021
PCCA4Oct 15, 2021
PCCB1Sep 30, 2021
PCDH1511Oct 15, 2021
PCDH192Sep 30, 2021
PCSK11Sep 30, 2021
PDCD6-AHRR1Sep 30, 2021
PDE6A3Sep 30, 2021
PDE6B17Sep 30, 2021
PDE6B-AS17Sep 30, 2021
PDE6C6Sep 30, 2021
PDE6H1Sep 30, 2021
PDGFB1Sep 30, 2021
PDGFRB7Sep 30, 2021
PDHX4Sep 30, 2021
PDLIM36Sep 30, 2021
PDZD72Sep 30, 2021
PEX14Sep 30, 2021
PEX22Sep 30, 2021
PEX261Sep 30, 2021
PEX51Sep 30, 2021
PEX72Sep 30, 2021
PFKM1Dec 16, 2021
PGAP11Oct 15, 2021
PGBD31Sep 30, 2021
PGK11Sep 30, 2021
PGM12Sep 30, 2021
PHEX1Sep 30, 2021
PHF32Sep 30, 2021
PHKA13Oct 15, 2021
PHKA21Sep 30, 2021
PHKA2-AS11Sep 30, 2021
PHYH2Sep 30, 2021
PIEZO11Sep 30, 2021
PIEZO21Sep 30, 2021
PIGG1Dec 16, 2021
PIGL1Sep 30, 2021
PIGO3Sep 30, 2021
PIGV1Sep 30, 2021
PIK3CA1Sep 30, 2021
PIK3CD1Sep 30, 2021
PIK3R11Dec 16, 2021
PIK3R21Sep 30, 2021
PINK13Sep 30, 2021
PINK1-AS2Sep 30, 2021
PIRC663Sep 30, 2021
PITX12Oct 15, 2021
PKD143Dec 16, 2021
PKD1-AS15Dec 16, 2021
PKD1L16Sep 30, 2021
PKD23Dec 16, 2021
PKD2L2-DT1Sep 30, 2021
PKHD16Oct 15, 2021
PKLR2Sep 30, 2021
PKP245Oct 15, 2021
PLA2G51Sep 30, 2021
PLAA1Oct 15, 2021
PLCE16Sep 30, 2021
PLCE1-AS11Sep 30, 2021
PLCG211Sep 30, 2021
PLEC2Sep 30, 2021
PLG6Sep 30, 2021
PLN6Sep 30, 2021
PLOD17Sep 30, 2021
PLS31Sep 30, 2021
PLXNA31Sep 30, 2021
PLXND12Sep 30, 2021
PMM210Sep 30, 2021
PMP222Sep 30, 2021
PMS247Sep 30, 2021
PNKP2Sep 30, 2021
PNLDC14Jul 22, 2021
PNPLA13Sep 30, 2021
PNPLA22Sep 30, 2021
PNPLA68Sep 30, 2021
POC1B1Sep 30, 2021
POC51Sep 30, 2021
POLD18Sep 30, 2021
POLE23Oct 15, 2021
POLG12Sep 30, 2021
POLG21Sep 30, 2021
POLR1C1Sep 30, 2021
POLR2F2Sep 30, 2021
POLR3A3Sep 30, 2021
POLR3B2Sep 30, 2021
POMGNT11Sep 30, 2021
POMT16Sep 30, 2021
POMT24Sep 30, 2021
POR7Sep 30, 2021
POTEI5Sep 30, 2021
POU4F31Sep 30, 2021
PPP1CB1Sep 30, 2021
PPP2R1A1Sep 30, 2021
PPP2R5D2Sep 30, 2021
PPT11Sep 30, 2021
PRCD2Sep 14, 2016
PRDM101Sep 30, 2021
PRDM1657Dec 16, 2021
PRF14Oct 15, 2021
PRG42Sep 30, 2021
PRKAG220Sep 30, 2021
PRKAR1A1Sep 30, 2021
PRKCG2Oct 15, 2021
PRKCSH3Sep 30, 2021
PRKG12Sep 30, 2021
PRKN1Oct 15, 2021
PROC3Sep 30, 2021
PROK22Sep 30, 2021
PROKR24Sep 30, 2021
PROM110Oct 15, 2021
PROS11Sep 30, 2021
PRPF317Oct 15, 2021
PRPF31-AS12Oct 15, 2021
PRPH211Sep 30, 2021
PRPS11Sep 30, 2021
PRRT22Sep 30, 2021
PRSS14Sep 30, 2021
PRSS123Sep 30, 2021
PRSS561Sep 30, 2021
PRX6Sep 30, 2021
PSEN11Sep 30, 2021
PSEN23Sep 30, 2021
PSTPIP12Sep 30, 2021
PTBP11Sep 30, 2021
PTCH18Sep 30, 2021
PTCHD1-AS1Sep 30, 2021
PTEN16Oct 15, 2021
PTH1R1Sep 30, 2021
PTPN1133Dec 16, 2021
PTPRC1Sep 30, 2021
PTPRO2Sep 30, 2021
PTPRQ14Sep 30, 2021
PYGB1Sep 30, 2021
PYGM1Dec 16, 2021
RAB141Sep 30, 2021
RAB281Sep 30, 2021
RAB3GAP15Sep 30, 2021
RAB3GAP27Sep 30, 2021
RAD51C15Dec 16, 2021
RAD51D13Dec 16, 2021
RAD51L3-RFFL13Dec 16, 2021
RAF16Oct 15, 2021
RAG11Sep 30, 2021
RAI16Sep 30, 2021
RANGRF1Sep 30, 2021
RAPSN4Sep 30, 2021
RARS24Sep 30, 2021
RASA12Sep 30, 2021
RBM2050Oct 15, 2021
RBM8A2Sep 30, 2021
RBP32Sep 30, 2021
RDH124Sep 30, 2021
RECQL415Oct 15, 2021
REEP14Oct 15, 2021
RELN1Sep 30, 2021
RET18Oct 15, 2021
RFXANK1Sep 30, 2021
RGR2Sep 30, 2021
RGS91Sep 30, 2021
RHBDF24Sep 30, 2021
RHO12Oct 15, 2021
RIF11Sep 30, 2021
RIMS11Sep 30, 2021
RIN22Sep 30, 2021
RIPPLY21Sep 30, 2021
RIPPLY2-CYB5R41Sep 30, 2021
RIT14Sep 30, 2021
RLBP11Sep 30, 2021
RMND12Sep 30, 2021
RMRP3Sep 30, 2021
RNASEH2A1Sep 30, 2021
RNASEH2B1Oct 15, 2021
RNF431Sep 30, 2021
ROBO12Sep 30, 2021
ROM11Sep 30, 2021
ROR22Oct 15, 2021
RP112Sep 30, 2021
RP1L125Dec 16, 2021
RP24Sep 30, 2021
RPE658Oct 15, 2021
RPGR13Sep 30, 2021
RPGRIP19Sep 30, 2021
RPL36A-HNRNPH216Oct 15, 2021
RPS191Sep 30, 2021
RRAS2Sep 30, 2021
RS13Oct 15, 2021
RSPH91Sep 30, 2021
RTEL114Dec 16, 2021
RTEL1-TNFRSF6B14Dec 16, 2021
RTN21Sep 30, 2021
RTTN1Sep 30, 2021
RUBCN1Sep 30, 2021
RUNX21Sep 30, 2021
RYR190Dec 16, 2021
RYR278Oct 15, 2021
SACS25Oct 15, 2021
SAG1Sep 30, 2021
SALL13Sep 30, 2021
SALL46Sep 30, 2021
SAMD9L2Dec 16, 2021
SATB23Sep 30, 2021
SBDS4Sep 30, 2021
SCAMP41Oct 15, 2021
SCARF24Sep 30, 2021
SCN10A57Dec 16, 2021
SCN11A20Oct 15, 2021
SCN1A19Sep 30, 2021
SCN1A-AS125Dec 16, 2021
SCN1B20Sep 30, 2021
SCN2A5Oct 15, 2021
SCN3A1Oct 15, 2021
SCN3B7Sep 30, 2021
SCN4A8Dec 16, 2021
SCN4B3Sep 30, 2021
SCN5A99Dec 16, 2021
SCN8A19Dec 16, 2021
SCN9A27Dec 16, 2021
SCNN1A3Sep 30, 2021
SCNN1B4Oct 15, 2021
SCNN1G4Sep 30, 2021
SCO22Dec 16, 2021
SDHA27Dec 16, 2021
SDHAF22Dec 16, 2021
SDHB11Sep 30, 2021
SDHC2Oct 15, 2021
SDHD6Sep 30, 2021
SEC23B3Sep 30, 2021
SEC636Oct 15, 2021
SELENON5Sep 30, 2021
SEMA3A5Sep 30, 2021
SEMA4A1Sep 30, 2021
SEPTIN92Sep 30, 2021
SERAC12Sep 30, 2021
SERPINA11Sep 30, 2021
SERPINE11Sep 30, 2021
SERPING14Dec 16, 2021
SETBP12Sep 30, 2021
SETD1A1Sep 30, 2021
SETD53Dec 16, 2021
SETX17Sep 30, 2021
SFTPA21Sep 30, 2021
SGCA2Sep 30, 2021
SGCB1Sep 30, 2021
SGCD3Sep 30, 2021
SGCE3Dec 16, 2021
SGCG2Sep 30, 2021
SGSH7Dec 16, 2021
SH2B31Sep 30, 2021
SH3PXD2B2Sep 30, 2021
SH3TC28Sep 30, 2021
SHANK32Sep 30, 2021
SHOC23Sep 30, 2021
SHOX5Sep 30, 2021
SHROOM34Sep 30, 2021
SHROOM41Sep 30, 2021
SI10Sep 30, 2021
SIL13Sep 30, 2021
SIN3A1Sep 30, 2021
SIX12Sep 30, 2021
SIX31Dec 16, 2021
SIX55Sep 30, 2021
SKI6Sep 30, 2021
SLC11A21Sep 30, 2021
SLC12A12Oct 15, 2021
SLC12A330Dec 16, 2021
SLC13A51Sep 30, 2021
SLC16A12Sep 30, 2021
SLC19A11Sep 30, 2021
SLC19A21Sep 30, 2021
SLC19A32Sep 30, 2021
SLC20A21Sep 30, 2021
SLC22A55Sep 30, 2021
SLC24A12Sep 14, 2016
SLC24A51Dec 16, 2021
SLC25A241Dec 16, 2021
SLC25A351Sep 30, 2021
SLC26A14Sep 30, 2021
SLC26A24Sep 30, 2021
SLC26A31Sep 30, 2021
SLC26A421Oct 15, 2021
SLC26A4-AS13Sep 30, 2021
SLC26A51Sep 30, 2021
SLC29A31Sep 30, 2021
SLC2A114Sep 30, 2021
SLC2A103Sep 30, 2021
SLC33A12Sep 30, 2021
SLC34A111Sep 30, 2021
SLC34A34Oct 15, 2021
SLC35A11Sep 30, 2021
SLC39A41Sep 30, 2021
SLC39A71Sep 30, 2021
SLC3A14Sep 30, 2021
SLC40A11Sep 30, 2021
SLC4A14Sep 30, 2021
SLC52A22Sep 30, 2021
SLC52A32Sep 30, 2021
SLC5A22Sep 30, 2021
SLC5A62Feb 15, 2022
SLC6A11Sep 30, 2021
SLC6A21Sep 30, 2021
SLC6A81Sep 30, 2021
SLC7A76Sep 30, 2021
SLC7A97Oct 15, 2021
SLC9A3R11Sep 30, 2021
SLC9A61Sep 30, 2021
SLCO1B14Sep 30, 2021
SLCO2A11Sep 30, 2021
SLMAP1Sep 30, 2021
SLX41Sep 30, 2021
SMAD36Dec 16, 2021
SMAD410Sep 30, 2021
SMAD63Sep 30, 2021
SMAD91Sep 30, 2021
SMARCA43Sep 30, 2021
SMARCAL13Sep 30, 2021
SMARCB11Sep 30, 2021
SMC31Sep 30, 2021
SMCHD11Sep 30, 2021
SMPD12Sep 30, 2021
SNHG144Sep 30, 2021
SNRNP2003Sep 30, 2021
SNTA16Sep 30, 2021
SOBP1Sep 30, 2021
SOS112Sep 30, 2021
SOS26Sep 30, 2021
SOX102Sep 30, 2021
SOX31Sep 30, 2021
SOX52Sep 30, 2021
SOX91Sep 30, 2021
SPAST6Sep 30, 2021
SPATA221Sep 30, 2021
SPATA52Sep 30, 2021
SPATA75Sep 30, 2021
SPG1114Dec 16, 2021
SPG710Oct 15, 2021
SPINK16Sep 30, 2021
SPOP1Sep 30, 2021
SPRED18Sep 30, 2021
SPTAN14Sep 30, 2021
SPTBN23Sep 30, 2021
SQSTM13Sep 30, 2021
SRCAP35Sep 30, 2021
SSUH21Sep 30, 2021
ST3GAL31Sep 30, 2021
STAT12Sep 30, 2021
STIL4Sep 30, 2021
STIM11Oct 15, 2021
STK1115Sep 30, 2021
STON1-GTF2A1L3Sep 30, 2021
STRC11Dec 16, 2021
STUB11Sep 30, 2021
STX31Sep 30, 2021
STXBP12Sep 30, 2021
STXBP22Sep 30, 2021
SUCLA22Sep 30, 2021
SUFU5Sep 30, 2021
SUMF14Sep 30, 2021
SURF13Sep 30, 2021
SYNE137Sep 30, 2021
SYNE26Sep 30, 2021
SYNGAP15Dec 16, 2021
SYNGAP1-AS14Oct 15, 2021
TAB22Sep 30, 2021
TAF102Sep 30, 2021
TAFAZZIN10Sep 30, 2021
TARID2Sep 30, 2021
TBC1D241Sep 30, 2021
TBCE1Sep 30, 2021
TBCEL-TECTA14Dec 16, 2021
TBCK1Sep 30, 2021
TBX110Sep 30, 2021
TBX203Sep 30, 2021
TBX54Sep 30, 2021
TBXAS12Dec 16, 2021
TCAP9Oct 15, 2021
TCF42Sep 30, 2021
TCN21Sep 30, 2021
TCOF16Sep 30, 2021
TCTN21Sep 30, 2021
TDGF11Sep 30, 2021
TDP11Sep 30, 2021
TECTA14Dec 16, 2021
TERC1Sep 30, 2021
TERT13Sep 30, 2021
TF2Sep 30, 2021
TFR24Sep 30, 2021
TG2Sep 30, 2021
TGFB11Sep 30, 2021
TGFB24Oct 15, 2021
TGFB31Sep 30, 2021
TGFBR12Sep 30, 2021
TGFBR22Sep 30, 2021
TGM16Sep 30, 2021
TGM51Oct 15, 2021
TGM611Sep 30, 2021
TH3Sep 30, 2021
THAP11Sep 30, 2021
THBD1Sep 30, 2021
THOC61Sep 30, 2021
THPO1Sep 30, 2021
TINF21Sep 30, 2021
TKTL11Sep 30, 2021
TLL13Sep 30, 2021
TMC12Sep 30, 2021
TMC63Sep 30, 2021
TMC85Sep 30, 2021
TMEM106B1Sep 30, 2021
TMEM126A1Sep 30, 2021
TMEM1274Sep 30, 2021
TMEM2311Sep 30, 2021
TMEM2371Sep 30, 2021
TMEM2401Sep 30, 2021
TMEM4327Oct 15, 2021
TMEM675Sep 30, 2021
TMLHE2Oct 5, 2021
TMPO3Sep 30, 2021
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
TSC16Sep 30, 2021
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
UNC13D1Sep 30, 2021
USH1C8Sep 30, 2021
USH1G2Sep 30, 2021
USH2A106Oct 15, 2021
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
WNK114Sep 30, 2021
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
Hypokalemia2Jul 14, 2021
Hypomagnesemia2Jul 14, 2021
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial1Jul 14, 2021
Interstitial nephritis1Jul 10, 2021
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 dystrophy4Sep 14, 2016
Male infertility with azoospermia or oligozoospermia due to single gene mutation4Jul 22, 2021
Nanophthalmia1Sep 14, 2016
Neurodegeneration, infantile-onset, biotin-responsive2Feb 15, 2022
Neurodevelopmental disorder31Jan 10, 2021
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
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 32Sep 14, 2016
Vitelliform macular dystrophy 21Sep 14, 2016
Vitelliform macular dystrophy 51Sep 14, 2016
X-linked cone-rod dystrophy 11Sep 14, 2016
not provided5276Dec 16, 2021
not specified4587Dec 16, 2021
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