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Diagnostic Laboratory, Department of Genetics (University Medical Center Groningen), DL-UMCG

General information

Diagnostic Laboratory, Department of Genetics, DL-UMCG
University Medical Center Groningen
Groningen
Netherlands

Organization ID: 506382

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 8534

Gene

GeneSubmissionsLast Updated
A2ML19Oct 15, 2021
AAGAB2Dec 16, 2021
AARS15Dec 16, 2021
ABCA14Dec 16, 2021
ABCA121Sep 2, 2021
ABCA31Dec 16, 2021
ABCA413Oct 15, 2021
ABCB116Dec 16, 2021
ABCB47Sep 2, 2021
ABCC69Oct 4, 2021
ABCC87Dec 16, 2021
ABCC940Dec 16, 2021
ABCD15Sep 2, 2021
ABCG52Dec 16, 2021
ABCG87Sep 2, 2021
ABHD122Sep 2, 2021
ABL11Dec 16, 2021
ACAD93Sep 2, 2021
ACADM2Oct 15, 2021
ACADS1Sep 2, 2021
ACADVL1Sep 2, 2021
ACAN5Dec 16, 2021
ACAT12Sep 2, 2021
ACBD61Apr 4, 2018
ACD1Sep 2, 2021
ACE1Sep 2, 2021
ACO23Sep 2, 2021
ACSF310Sep 2, 2021
ACSL41Sep 2, 2021
ACTA21Sep 2, 2021
ACTB2Sep 2, 2021
ACTC110Oct 4, 2021
ACTG13Oct 4, 2021
ACTN235Dec 16, 2021
ACTN41Apr 4, 2018
ACVR2B3Apr 4, 2018
ACVRL12Apr 4, 2018
ACYP11Sep 2, 2021
ADA23Dec 16, 2021
ADAM171Sep 2, 2021
ADAMTS102Sep 2, 2021
ADAMTS1710Apr 4, 2018
ADAMTS184Sep 2, 2021
ADAMTS210Apr 4, 2018
ADAMTSL29Apr 4, 2018
ADAMTSL42Apr 4, 2018
ADAR9Oct 15, 2021
ADCY58Dec 16, 2021
ADGRG13Sep 2, 2021
ADGRV130Oct 4, 2021
AFF23Sep 2, 2021
AFG3L23Sep 2, 2021
AGA3Apr 4, 2018
AGL1Apr 4, 2018
AGT2Sep 2, 2021
AGTR21Apr 4, 2018
AHCY1Sep 2, 2021
AHDC11Sep 2, 2021
AHI15Oct 4, 2021
AHNAK1Sep 2, 2021
AICDA2Apr 4, 2018
AIFM11Sep 2, 2021
AIP4Sep 2, 2021
AIPL11Sep 2, 2021
AIRE6Sep 2, 2021
AK21Oct 4, 2021
AKAP913Oct 4, 2021
AKR1D11Sep 2, 2021
AKT21Sep 2, 2021
ALAD1Apr 4, 2018
ALDH18A12Apr 4, 2018
ALDH3A25Sep 2, 2021
ALDH4A13Sep 2, 2021
ALDH5A13Sep 2, 2021
ALDH7A12Oct 15, 2021
ALG11Sep 2, 2021
ALG121Sep 2, 2021
ALG133Oct 15, 2021
ALG64Sep 2, 2021
ALG85Dec 16, 2021
ALG91Oct 4, 2021
ALK11Apr 4, 2018
ALMS122Oct 4, 2021
ALOXE33Sep 2, 2021
ALPK316Dec 16, 2021
ALPL5Sep 2, 2021
ALS23Sep 2, 2021
ALX43Sep 2, 2021
AMER13Sep 2, 2021
AMH3Sep 2, 2021
AMOT1Oct 4, 2021
AMT2Apr 4, 2018
ANK16Apr 4, 2018
ANK27Apr 4, 2018
ANK31Sep 2, 2021
ANKRD114Sep 2, 2021
ANKRD116Dec 16, 2021
ANKRD261Sep 2, 2021
ANKS62Dec 16, 2021
ANO105Apr 4, 2018
ANO34Sep 2, 2021
ANO515Oct 15, 2021
ANOS12Oct 4, 2021
AP3B11Sep 2, 2021
AP3D12Oct 4, 2021
AP4B15Oct 15, 2021
AP4B1-AS16Oct 15, 2021
AP4E13Apr 4, 2018
AP4M12Sep 2, 2021
AP5Z11Sep 2, 2021
APC32Oct 4, 2021
APOA11Oct 4, 2021
APOA22Oct 15, 2021
APOA52Oct 4, 2021
APOB55Dec 16, 2021
APOC23Oct 4, 2021
APOC31Apr 4, 2018
APOC4-APOC23Oct 4, 2021
APOE2Sep 2, 2021
APTX3Oct 4, 2021
AQP22Sep 2, 2021
AQP5-AS11Sep 2, 2021
AR1Sep 2, 2021
ARFGEF21Apr 4, 2018
ARG12Apr 4, 2018
ARHGAP312Sep 2, 2021
ARHGEF105Apr 4, 2018
ARHGEF61Apr 4, 2018
ARHGEF91Sep 2, 2021
ARID1A4Sep 2, 2021
ARID1B13Oct 15, 2021
ARL13B1Apr 4, 2018
ARL62Sep 2, 2021
ARSA12Sep 2, 2021
ARSB4Sep 2, 2021
ARSL2Sep 2, 2021
ARVCF1Sep 2, 2021
ARX3Sep 2, 2021
ASAH18Oct 4, 2021
ASCC11Dec 16, 2021
ASCC31Sep 2, 2021
ASCL15Oct 15, 2021
ASL1Sep 2, 2021
ASPA2Oct 15, 2021
ASPM15Apr 4, 2018
ASS11Apr 4, 2018
ASXL13Sep 2, 2021
ASXL31Sep 2, 2021
ATAD3A1Dec 16, 2021
ATCAY1Apr 4, 2018
ATL12Sep 2, 2021
ATM74Dec 16, 2021
ATN14Oct 15, 2021
ATP13A214Dec 16, 2021
ATP1A21Sep 2, 2021
ATP1A310Sep 2, 2021
ATP2A12Apr 4, 2018
ATP2A23Oct 15, 2021
ATP2B37Apr 4, 2018
ATP2C11Oct 15, 2021
ATP6AP11Sep 2, 2021
ATP6V0A24Sep 2, 2021
ATP6V0A44Sep 2, 2021
ATP6V1B11Sep 2, 2021
ATP7A6Dec 16, 2021
ATP7B19Dec 16, 2021
ATP8A21Oct 4, 2021
ATP8B16Sep 2, 2021
ATP8B1-AS11Sep 2, 2021
ATR7Sep 2, 2021
ATRIP5Dec 16, 2021
ATRIP-TREX15Dec 16, 2021
ATRX5Sep 2, 2021
ATXN11Sep 2, 2021
AUTS24Oct 15, 2021
AVPR25Oct 15, 2021
AXIN210Oct 4, 2021
B3GALNT21Oct 4, 2021
B3GAT33Sep 2, 2021
B3GLCT4Sep 2, 2021
B4GALT72Apr 4, 2018
B9D11Apr 4, 2018
B9D21Apr 4, 2018
BAG322Oct 4, 2021
BAP11Sep 2, 2021
BARD12Dec 16, 2021
BBS14Sep 2, 2021
BBS102Sep 2, 2021
BBS125Apr 4, 2018
BBS23Sep 2, 2021
BBS47Oct 4, 2021
BBS51Sep 2, 2021
BBS72Apr 4, 2018
BBS95Oct 4, 2021
BCAP311Oct 15, 2021
BCKDHA3Apr 4, 2018
BCKDHB1Oct 4, 2021
BCOR5Oct 4, 2021
BCORL11Oct 15, 2021
BEST16Sep 2, 2021
BFSP22Oct 4, 2021
BFSP2-AS12Oct 4, 2021
BIN12Sep 2, 2021
BIVM-ERCC52Oct 4, 2021
BLM2Sep 2, 2021
BMP21Oct 15, 2021
BMP43Dec 16, 2021
BMPR21Oct 4, 2021
BRAT14Sep 2, 2021
BRCA1150Dec 16, 2021
BRCA2200Dec 16, 2021
BRD21Sep 2, 2021
BRIP15Sep 2, 2021
BRWD34Dec 16, 2021
BSCL21Sep 2, 2021
BTD2Oct 4, 2021
BUB1B1Sep 2, 2021
C11orf6527Dec 16, 2021
C12orf571Sep 2, 2021
C19orf125Sep 2, 2021
C1QA1Sep 2, 2021
C1QB1Sep 2, 2021
C23Sep 2, 2021
C2-AS11Sep 2, 2021
C2CD32Sep 2, 2021
C2orf492Oct 4, 2021
C39Sep 2, 2021
C4A1Sep 2, 2021
C4B1Oct 15, 2021
C53Sep 2, 2021
C65Dec 16, 2021
C75Oct 15, 2021
C8A1Sep 2, 2021
C8B3Oct 4, 2021
C94Oct 4, 2021
C9orf722Apr 4, 2018
CACNA1A18Oct 15, 2021
CACNA1B7Oct 4, 2021
CACNA1C9Dec 16, 2021
CACNA1C-AS15Oct 15, 2021
CACNA1D6Oct 15, 2021
CACNA1E1Dec 16, 2021
CACNA1F4Sep 2, 2021
CACNA1H8Sep 2, 2021
CACNA1S8Sep 2, 2021
CACNA2D11Oct 4, 2021
CACNB22Apr 4, 2018
CACNB43Sep 2, 2021
CAD1Oct 4, 2021
CALR311Oct 15, 2021
CAMTA12Sep 2, 2021
CAPN11Sep 2, 2021
CAPN101Oct 15, 2021
CAPN31Sep 2, 2021
CARD143Oct 15, 2021
CARD91Sep 2, 2021
CARMIL21Sep 2, 2021
CASD14Dec 16, 2021
CASK1Sep 2, 2021
CASP104Sep 2, 2021
CASQ25Oct 4, 2021
CASR6Oct 4, 2021
CATIP-AS22Dec 16, 2021
CAV11Sep 2, 2021
CAV36Oct 4, 2021
CAVIN11Oct 15, 2021
CBL2Sep 2, 2021
CBS5Oct 4, 2021
CC2D1A1Apr 4, 2018
CC2D2A6Sep 2, 2021
CCBE13Oct 4, 2021
CCDC221Sep 2, 2021
CCDC393Sep 2, 2021
CCDC4012Sep 2, 2021
CCDC88C5Oct 4, 2021
CCND21Sep 2, 2021
CCT55Apr 4, 2018
CD1511Sep 2, 2021
CD2AP1Apr 4, 2018
CD3D1Apr 4, 2018
CD3E2Apr 4, 2018
CD401Apr 4, 2018
CD40LG2Apr 4, 2018
CD79A1Sep 2, 2021
CD961Sep 2, 2021
CDAN11Sep 2, 2021
CDH114Oct 15, 2021
CDH151Oct 15, 2021
CDH21Dec 16, 2021
CDH238Oct 4, 2021
CDH23-AS12Sep 2, 2021
CDHR14Sep 2, 2021
CDK132Sep 2, 2021
CDK5RAP26Sep 2, 2021
CDKL54Apr 4, 2018
CDKN1A1Sep 2, 2021
CDKN1B2Apr 4, 2018
CDKN2A4Oct 4, 2021
CDON7Oct 15, 2021
CDSN2Sep 2, 2021
CDT12Apr 4, 2018
CEBPA1Sep 2, 2021
CEL2Dec 16, 2021
CENPJ3Sep 2, 2021
CEP1041Sep 2, 2021
CEP1281Oct 4, 2021
CEP1351Apr 4, 2018
CEP1523Sep 2, 2021
CEP1644Sep 2, 2021
CEP2909Sep 2, 2021
CEP411Sep 2, 2021
CEP832Sep 2, 2021
CEP85L3Oct 4, 2021
CEP891Sep 2, 2021
CERKL7Oct 4, 2021
CETP2Apr 4, 2018
CFB1Sep 2, 2021
CFC11Sep 2, 2021
CFD1Sep 2, 2021
CFH6Dec 16, 2021
CFHR52Oct 4, 2021
CFI3Sep 2, 2021
CFL21Sep 2, 2021
CFP2Oct 15, 2021
CFTR74Dec 16, 2021
CFTR-AS110Dec 16, 2021
CHAT2Oct 4, 2021
CHD24Sep 2, 2021
CHD31Oct 4, 2021
CHD712Sep 2, 2021
CHD82Dec 16, 2021
CHEK233Dec 16, 2021
CHM1Sep 2, 2021
CHMP2B1Sep 2, 2021
CHRNA21Apr 4, 2018
CHRNA44Oct 4, 2021
CHRNB21Apr 4, 2018
CHRNG2Sep 2, 2021
CHROMR1Apr 4, 2018
CHST31Apr 4, 2018
CITED22Oct 15, 2021
CIZ13Sep 2, 2021
CLCN13Sep 2, 2021
CLCN22Sep 2, 2021
CLCN72Sep 2, 2021
CLCNKB11Sep 2, 2021
CLIC51Sep 2, 2021
CLN54Sep 2, 2021
CLN62Oct 4, 2021
CLTC1Oct 15, 2021
CNGA31Sep 2, 2021
CNGB17Sep 2, 2021
CNGB32Sep 2, 2021
CNOT31Oct 15, 2021
CNTNAP27Sep 2, 2021
COCH1Apr 4, 2018
COG12Dec 16, 2021
COG63Sep 2, 2021
COL10A11Oct 15, 2021
COL11A17Dec 16, 2021
COL11A211Sep 2, 2021
COL17A13Sep 2, 2021
COL18A17Oct 15, 2021
COL1A12Sep 2, 2021
COL1A27Oct 4, 2021
COL2A111Oct 4, 2021
COL3A14Sep 2, 2021
COL4A122Dec 16, 2021
COL4A216Dec 16, 2021
COL4A2-AS14Oct 15, 2021
COL4A2-AS22Sep 2, 2021
COL4A37Oct 4, 2021
COL4A43Sep 2, 2021
COL4A61Sep 2, 2021
COL5A17Sep 2, 2021
COL5A23Sep 2, 2021
COL6A110Sep 2, 2021
COL6A210Oct 4, 2021
COL6A37Sep 2, 2021
COL7A122Sep 2, 2021
COL9A12Sep 2, 2021
COL9A37Sep 2, 2021
COLQ1Sep 2, 2021
COMT5Sep 2, 2021
COQ23Apr 4, 2018
COQ8A8Sep 2, 2021
COX104Oct 4, 2021
COX151Sep 2, 2021
COX201Sep 2, 2021
CP8Sep 2, 2021
CPLANE18Oct 4, 2021
CPOX2Apr 4, 2018
CPS15Sep 2, 2021
CPT1A2Sep 2, 2021
CPT23Sep 2, 2021
CR21Dec 16, 2021
CRADD1Oct 4, 2021
CRB11Sep 2, 2021
CREBBP7Dec 16, 2021
CRELD12Sep 2, 2021
CRLF11Sep 2, 2021
CRPPA2Apr 4, 2018
CRTAP5Sep 2, 2021
CRYAA1Sep 2, 2021
CRYAB8Sep 2, 2021
CRYBA11Oct 4, 2021
CRYBB31Sep 2, 2021
CRYGD1Sep 2, 2021
CSF3R1Sep 2, 2021
CSRP313Oct 4, 2021
CTC15Oct 4, 2021
CTCF1Oct 4, 2021
CTDP14Sep 2, 2021
CTNNA13Oct 4, 2021
CTNNA317Oct 15, 2021
CTNNB11Sep 2, 2021
CTNND11Sep 2, 2021
CTNND21Oct 4, 2021
CTNS2Sep 2, 2021
CTNS-AS11Sep 2, 2021
CTSA2Dec 16, 2021
CTSC2Sep 2, 2021
CTSD2Apr 4, 2018
CUBN1Sep 2, 2021
CUL4B1Apr 4, 2018
CUL72Sep 2, 2021
CUX21Sep 2, 2021
CXCR41Oct 4, 2021
CYBA2Sep 2, 2021
CYP11B13Sep 2, 2021
CYP11B24Sep 2, 2021
CYP17A11Sep 2, 2021
CYP19A14Sep 2, 2021
CYP1B11Sep 2, 2021
CYP21A26Dec 16, 2021
CYP24A12Sep 2, 2021
CYP27A16Oct 4, 2021
CYP2B61Apr 4, 2018
CYP2R11Sep 2, 2021
CYP4V24Sep 2, 2021
CYP7B12Sep 2, 2021
DAG12Oct 4, 2021
DARS21Sep 2, 2021
DBH1Sep 2, 2021
DBT1Sep 2, 2021
DCAF175Sep 2, 2021
DCAF81Oct 4, 2021
DCC1Sep 2, 2021
DCHS17Oct 4, 2021
DCLRE1B1Oct 4, 2021
DCLRE1C1Sep 2, 2021
DCT1Oct 4, 2021
DDC4Sep 2, 2021
DDHD14Sep 2, 2021
DDHD21Sep 2, 2021
DDOST1Sep 2, 2021
DDX111Sep 2, 2021
DDX3X1Oct 4, 2021
DDX581Sep 2, 2021
DENND5A1Oct 15, 2021
DEPDC52Sep 2, 2021
DES25Dec 16, 2021
DES-LCR1Sep 2, 2021
DGKE1Sep 2, 2021
DGUOK3Sep 2, 2021
DGUOK-AS11Apr 4, 2018
DHCR241Sep 2, 2021
DHCR714Dec 16, 2021
DHFR1Apr 4, 2018
DHTKD19Oct 4, 2021
DIAPH13Sep 2, 2021
DIAPH33Oct 15, 2021
DIAPH3-AS11Oct 15, 2021
DICER19Dec 16, 2021
DISP11Sep 2, 2021
DKC12Sep 2, 2021
DLAT4Sep 2, 2021
DLD3Sep 2, 2021
DLL31Sep 2, 2021
DM1-AS1Oct 4, 2021
DMD59Dec 16, 2021
DMP12Sep 2, 2021
DMPK3Oct 4, 2021
DNAAF14Sep 2, 2021
DNAAF111Apr 4, 2018
DNAAF25Apr 4, 2018
DNAAF310Sep 2, 2021
DNAH1119Sep 2, 2021
DNAH524Oct 4, 2021
DNAH61Sep 2, 2021
DNAH81Oct 15, 2021
DNAI13Sep 2, 2021
DNAI24Apr 4, 2018
DNAJC131Oct 4, 2021
DNAJC211Sep 2, 2021
DNMT12Oct 4, 2021
DNMT3B3Sep 2, 2021
DOCK617Oct 15, 2021
DOCK814Oct 4, 2021
DPAGT12Sep 2, 2021
DPH11Sep 2, 2021
DPM22Apr 4, 2018
DPP65Oct 4, 2021
DPYD3Sep 2, 2021
DSC223Oct 15, 2021
DSC31Sep 2, 2021
DSCAS1Apr 4, 2018
DSG230Oct 15, 2021
DSG2-AS112Oct 15, 2021
DSP75Dec 16, 2021
DSP-AS15Sep 2, 2021
DSPP2Sep 2, 2021
DST8Sep 2, 2021
DTNA21Oct 15, 2021
DUOX25Apr 4, 2018
DUOXA25Apr 4, 2018
DUSP292Sep 2, 2021
DYM1Oct 15, 2021
DYNC1H14Oct 4, 2021
DYNC2H117Sep 2, 2021
DYNC2LI12Dec 16, 2021
DYSF10Oct 4, 2021
EARS23Dec 16, 2021
EBP1Oct 15, 2021
EDA2Sep 2, 2021
EDA2R1Sep 2, 2021
EDAR2Sep 2, 2021
EDNRB1Oct 15, 2021
EDNRB-AS11Oct 15, 2021
EEF1A23Sep 2, 2021
EFEMP21Apr 4, 2018
EFHC12Sep 2, 2021
EFTUD24Sep 2, 2021
EGF2Sep 2, 2021
EGFR1Sep 2, 2021
EGR21Oct 4, 2021
EHMT12Sep 2, 2021
EIF2AK35Sep 2, 2021
EIF2S31Oct 15, 2021
EIF4G16Sep 2, 2021
ELAC21Oct 15, 2021
ELANE1Sep 2, 2021
ELN3Sep 2, 2021
ELP13Apr 4, 2018
ELP41Sep 2, 2021
EMD7Dec 16, 2021
ENG5Oct 4, 2021
EP3006Dec 16, 2021
EPCAM2Oct 4, 2021
EPG51Sep 2, 2021
EPHB22Sep 2, 2021
EPHB42Oct 4, 2021
EPM2A1Apr 4, 2018
EPM2A-DT1Apr 4, 2018
ERCC27Sep 2, 2021
ERCC31Sep 2, 2021
ERCC41Sep 2, 2021
ERCC52Oct 4, 2021
ERCC69Dec 16, 2021
ERCC6-PGBD32Dec 16, 2021
ERCC6L21Oct 15, 2021
ESCO21Sep 2, 2021
ESPN1Sep 2, 2021
ESR22Apr 4, 2018
ESRRB1Sep 2, 2021
ETFDH1Sep 2, 2021
EVC13Sep 2, 2021
EXOSC31Apr 4, 2018
EYA12Sep 2, 2021
EYA45Sep 2, 2021
EYS9Sep 2, 2021
EZH21Sep 2, 2021
F104Oct 4, 2021
F126Sep 2, 2021
F13A11Sep 2, 2021
F13B3Sep 2, 2021
F21Sep 2, 2021
F511Sep 2, 2021
F73Oct 4, 2021
F81Sep 2, 2021
FA2H2Sep 2, 2021
FAAP241Oct 4, 2021
FAH6Sep 2, 2021
FAM161A1Apr 4, 2018
FAM189A11Sep 2, 2021
FAM83H2Apr 4, 2018
FANCA1Oct 4, 2021
FANCB1Oct 15, 2021
FANCD24Sep 2, 2021
FANCI3Sep 2, 2021
FANCL1Sep 2, 2021
FAT21Oct 15, 2021
FAT41Sep 2, 2021
FBLN51Sep 2, 2021
FBN19Oct 4, 2021
FBN29Oct 4, 2021
FBP14Sep 2, 2021
FBXL33Apr 4, 2018
FBXO111Sep 2, 2021
FBXO76Apr 4, 2018
FCN31Oct 4, 2021
FECH4Dec 16, 2021
FERMT32Sep 2, 2021
FGA2Sep 2, 2021
FGD13Sep 2, 2021
FGD42Apr 4, 2018
FGF231Sep 2, 2021
FGF94Sep 2, 2021
FGFR11Sep 2, 2021
FGFR24Sep 2, 2021
FGFR37Oct 4, 2021
FH5Sep 2, 2021
FHL19Oct 15, 2021
FHL22Oct 4, 2021
FHOD32Dec 16, 2021
FIG45Sep 2, 2021
FKBP101Dec 16, 2021
FKTN4Sep 2, 2021
FLCN4Oct 4, 2021
FLG13Dec 16, 2021
FLG-AS12Oct 15, 2021
FLNA13Oct 4, 2021
FLNB4Sep 2, 2021
FLNC16Oct 15, 2021
FLNC-AS14Oct 4, 2021
FLT45Oct 4, 2021
FLVCR15Sep 2, 2021
FMO33Sep 2, 2021
FMR11Sep 2, 2021
FN19Sep 2, 2021
FOLR11Apr 4, 2018
FOXC12Oct 4, 2021
FOXE12Apr 4, 2018
FOXG12Apr 4, 2018
FOXH12Sep 2, 2021
FOXI12Sep 2, 2021
FOXRED11Sep 2, 2021
FPGT-TNNI3K5Dec 16, 2021
FPR11Sep 2, 2021
FRAS132Oct 4, 2021
FREM110Sep 2, 2021
FREM24Sep 2, 2021
FRG11Sep 2, 2021
FRMD4A2Sep 2, 2021
FRMD71Oct 15, 2021
FTCD2Sep 2, 2021
FTH13Sep 2, 2021
FTL2Sep 2, 2021
FUCA12Oct 4, 2021
FUS3Sep 2, 2021
FXN1Apr 4, 2018
G6PC11Oct 4, 2021
G6PD3Sep 2, 2021
GAA21Apr 4, 2018
GABRA13Sep 2, 2021
GABRD1Apr 4, 2018
GAD11Sep 2, 2021
GALC14Oct 4, 2021
GALK12Oct 15, 2021
GALNS5Sep 2, 2021
GAMT1Apr 4, 2018
GAREM21Dec 16, 2021
GARS14Oct 4, 2021
GATA21Sep 2, 2021
GATA41Sep 2, 2021
GATA55Sep 2, 2021
GATAD14Sep 2, 2021
GATM3Apr 4, 2018
GBA6Oct 15, 2021
GBE14Dec 16, 2021
GCDH5Oct 4, 2021
GCH11Sep 2, 2021
GCNT21Sep 2, 2021
GDAP12Oct 4, 2021
GDF51Sep 2, 2021
GDF5-AS11Sep 2, 2021
GDF61Oct 4, 2021
GFAP2Dec 16, 2021
GFI13Dec 16, 2021
GFM13Dec 16, 2021
GH-LCR1Sep 2, 2021
GHR2Sep 2, 2021
GIGYF25Apr 4, 2018
GJA12Sep 2, 2021
GJB29Oct 15, 2021
GJB31Oct 4, 2021
GJB61Sep 2, 2021
GJD2-DT10Oct 4, 2021
GLA7Oct 4, 2021
GLB15Sep 2, 2021
GLDC9Sep 2, 2021
GLE11Sep 2, 2021
GLI210Oct 4, 2021
GLI39Oct 15, 2021
GLIS21Sep 2, 2021
GLIS32Oct 4, 2021
GLMN1Oct 4, 2021
GLRA11Apr 4, 2018
GLYCTK1Sep 2, 2021
GNAL2Oct 4, 2021
GNAQ1Sep 2, 2021
GNAS5Oct 4, 2021
GNE1Oct 4, 2021
GNPTAB2Sep 2, 2021
GNRHR1Sep 2, 2021
GNS4Oct 4, 2021
GORAB2Sep 2, 2021
GORAB-AS11Sep 2, 2021
GOSR23Sep 2, 2021
GPC33Sep 2, 2021
GPC42Dec 16, 2021
GPD1L1Oct 15, 2021
GPHN2Apr 4, 2018
GRHL21Sep 2, 2021
GRHPR2Sep 2, 2021
GRIA31Apr 4, 2018
GRIK22Sep 2, 2021
GRIN11Sep 2, 2021
GRIN2A4Sep 2, 2021
GRIN2B11Oct 4, 2021
GRIN2D1Sep 2, 2021
GRIP16Sep 2, 2021
GRM18Sep 2, 2021
GRM65Sep 2, 2021
GRN3Sep 2, 2021
GRXCR11Sep 2, 2021
GSE12Sep 2, 2021
GSN2Dec 16, 2021
GSS1Sep 2, 2021
GUCA1B1Sep 2, 2021
GUCY2D1Sep 2, 2021
GUSB2Sep 2, 2021
GYS12Oct 15, 2021
GYS23Sep 2, 2021
HADHA1Dec 16, 2021
HARS11Apr 4, 2018
HAVCR22Oct 4, 2021
HBB2Oct 15, 2021
HCFC13Sep 2, 2021
HCN15Oct 15, 2021
HCN426Dec 16, 2021
HDAC411Oct 4, 2021
HERC11Oct 4, 2021
HERC23Sep 2, 2021
HEXA5Sep 2, 2021
HEXB1Apr 4, 2018
HFE3Sep 2, 2021
HFE-AS12Sep 2, 2021
HGD1Sep 2, 2021
HGSNAT1Apr 4, 2018
HK13Oct 4, 2021
HLCS1Oct 4, 2021
HMBS4Sep 2, 2021
HMGCL2Sep 2, 2021
HNF1A2Sep 2, 2021
HNF1B1Sep 2, 2021
HNRNPH21Sep 2, 2021
HNRNPU1Sep 2, 2021
HNRNPU-AS11Sep 2, 2021
HNRNPUL2-BSCL21Sep 2, 2021
HOGA11Sep 2, 2021
HOXB12Sep 2, 2021
HOXB132Dec 16, 2021
HOXD131Sep 2, 2021
HPGD1Sep 2, 2021
HPRT13Oct 4, 2021
HRAS1Sep 2, 2021
HSD17B44Dec 16, 2021
HSPB32Apr 4, 2018
HSPD11Sep 2, 2021
HSPG22Sep 2, 2021
HTRA12Sep 2, 2021
HTT2Dec 16, 2021
HUWE12Sep 2, 2021
IDS3Sep 2, 2021
IDUA19Oct 15, 2021
IFIH14Dec 16, 2021
IFITM51Apr 4, 2018
IFNGR12Sep 2, 2021
IFNGR21Dec 16, 2021
IFT1222Sep 2, 2021
IFT1406Apr 4, 2018
IFT1721Sep 2, 2021
IFT431Sep 2, 2021
IGF1R2Dec 16, 2021
IGHMBP29Oct 4, 2021
IGSF15Oct 4, 2021
IHH2Sep 2, 2021
IKBKG2Dec 16, 2021
IL10RA2Sep 2, 2021
IL10RB1Sep 2, 2021
IL12RB12Apr 4, 2018
IL17RA3Oct 15, 2021
IL1RAPL11Sep 2, 2021
IL1RN2Sep 2, 2021
IL2RG1Sep 2, 2021
IL7R2Sep 2, 2021
ILK7Oct 15, 2021
IMPG23Sep 2, 2021
INCA11Oct 4, 2021
INF26Oct 4, 2021
INO801Sep 2, 2021
INPP5E5Sep 2, 2021
INSR2Dec 16, 2021
INVS3Sep 2, 2021
IQCE1Oct 4, 2021
IQSEC23Sep 2, 2021
IRF2BPL5Dec 16, 2021
IRF81Sep 2, 2021
ITGA2B1Oct 4, 2021
ITGA33Oct 4, 2021
ITGA61Sep 2, 2021
ITGA6-AS11Sep 2, 2021
ITGA71Sep 2, 2021
ITGB23Oct 15, 2021
ITGB33Sep 2, 2021
ITGB44Oct 15, 2021
ITPR112Sep 2, 2021
IVD1Apr 4, 2018
IYD1Apr 4, 2018
JAG19Oct 15, 2021
JAK11Oct 4, 2021
JAK32Oct 4, 2021
JAM32Apr 4, 2018
JMJD1C1Sep 2, 2021
JPH220Oct 4, 2021
JUP30Oct 15, 2021
KALRN2Sep 2, 2021
KANK11Oct 15, 2021
KANK21Sep 2, 2021
KANSL12Oct 4, 2021
KAT6A1Oct 4, 2021
KAT6B5Sep 2, 2021
KBTBD132Sep 2, 2021
KCNA14Sep 2, 2021
KCNA52Oct 4, 2021
KCNB11Oct 15, 2021
KCNC33Apr 4, 2018
KCNE11Sep 2, 2021
KCNE21Oct 4, 2021
KCNE51Oct 4, 2021
KCNH11Sep 2, 2021
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TBP5Oct 4, 2021
TBX12Sep 2, 2021
TBX191Oct 4, 2021
TBX203Sep 2, 2021
TBX41Oct 4, 2021
TBX52Sep 2, 2021
TBX61Sep 2, 2021
TCAP7Oct 4, 2021
TCF32Sep 2, 2021
TCF41Sep 2, 2021
TCOF12Sep 2, 2021
TCTN25Sep 2, 2021
TECTA5Sep 2, 2021
TEK4Oct 4, 2021
TELO21Sep 2, 2021
TERT10Dec 16, 2021
TF2Sep 2, 2021
TFAP2B1Sep 2, 2021
TFE31Oct 4, 2021
TFG1Oct 4, 2021
TFR22Sep 2, 2021
TG12Oct 15, 2021
TGFB11Sep 2, 2021
TGFB21Apr 4, 2018
TGFBR23Sep 2, 2021
TGIF11Sep 2, 2021
TGM12Sep 2, 2021
TGM51Oct 15, 2021
TGM67Sep 2, 2021
TH7Oct 15, 2021
THAP11Sep 2, 2021
THOC61Sep 2, 2021
THPO1Sep 2, 2021
THRB3Oct 4, 2021
TICAM11Sep 2, 2021
TIMM8A1Oct 4, 2021
TINF21Sep 2, 2021
TK21Dec 16, 2021
TLK21Oct 15, 2021
TLR31Apr 4, 2018
TLR41Oct 4, 2021
TMC63Sep 2, 2021
TMC86Sep 2, 2021
TMEM1271Apr 4, 2018
TMEM2162Sep 2, 2021
TMEM2311Apr 4, 2018
TMEM2372Sep 2, 2021
TMEM2401Sep 2, 2021
TMEM2601Sep 9, 2021
TMEM4317Oct 4, 2021
TMEM673Oct 4, 2021
TMLHE2Dec 16, 2021
TMPPE2Sep 2, 2021
TMPRSS32Sep 2, 2021
TMPRSS63Sep 2, 2021
TMX2-CTNND11Sep 2, 2021
TNFRSF13B3Oct 15, 2021
TNFRSF1A4Oct 15, 2021
TNNC16Oct 4, 2021
TNNI21Apr 4, 2018
TNNI318Sep 2, 2021
TNNI3K5Dec 16, 2021
TNNT13Sep 2, 2021
TNNT220Oct 4, 2021
TNNT31Apr 4, 2018
TNXB3Sep 2, 2021
TOP2B1Oct 15, 2021
TOR1A4Sep 2, 2021
TP536Sep 2, 2021
TP634Dec 16, 2021
TPM113Dec 16, 2021
TPM21Sep 2, 2021
TPO9Oct 4, 2021
TPP15Sep 2, 2021
TRAF3IP21Sep 2, 2021
TRAF3IP2-AS11Sep 2, 2021
TRAF61Sep 2, 2021
TRAPPC96Sep 2, 2021
TRB5Sep 2, 2021
TRDN6Oct 4, 2021
TREM21Apr 4, 2018
TREX15Dec 16, 2021
TRH3Oct 4, 2021
TRIO1Oct 4, 2021
TRIOBP5Sep 2, 2021
TRNT11Sep 2, 2021
TRPM42Oct 4, 2021
TRPM61Sep 2, 2021
TRPS12Sep 2, 2021
TRPV43Oct 15, 2021
TSC110Dec 16, 2021
TSC220Oct 4, 2021
TSEN152Oct 4, 2021
TSEN341Oct 4, 2021
TSEN5410Sep 2, 2021
TSHB1Apr 4, 2018
TSHR4Oct 4, 2021
TSHZ14Sep 2, 2021
TSPAN13Sep 2, 2021
TSPAN121Sep 2, 2021
TSPEAR1Oct 4, 2021
TTC141Apr 4, 2018
TTC191Apr 4, 2018
TTC21B4Sep 2, 2021
TTC373Oct 15, 2021
TTC7A2Sep 2, 2021
TTN756Dec 16, 2021
TTN-AS1392Dec 16, 2021
TTPA3Sep 2, 2021
TTR8Oct 4, 2021
TUBA1A2Sep 2, 2021
TUBB12Oct 15, 2021
TUBB2B1Oct 4, 2021
TUBGCP65Oct 4, 2021
TULP12Sep 2, 2021
TWIST12Dec 16, 2021
TXNRD216Oct 15, 2021
TYK22Sep 2, 2021
TYMP6Oct 15, 2021
UBA13Oct 4, 2021
UBE3A2Sep 2, 2021
UGT1A2Oct 15, 2021
UGT1A12Oct 15, 2021
UGT1A102Oct 15, 2021
UGT1A32Oct 15, 2021
UGT1A42Oct 15, 2021
UGT1A52Oct 15, 2021
UGT1A62Oct 15, 2021
UGT1A72Oct 15, 2021
UGT1A82Oct 15, 2021
UGT1A92Oct 15, 2021
UMOD1Sep 2, 2021
UNC13D10Oct 4, 2021
UNG1Sep 2, 2021
UPB11Sep 2, 2021
UPK3A3Apr 4, 2018
USB11Sep 2, 2021
USF31Sep 2, 2021
USH1C4Sep 2, 2021
USH2A7Sep 2, 2021
VANGL11Apr 4, 2018
VAV11Sep 2, 2021
VCAN4Sep 2, 2021
VCAN-AS11Sep 2, 2021
VCL31Oct 15, 2021
VCP3Sep 2, 2021
VDR2Sep 2, 2021
VHL2Sep 2, 2021
VPS13A25Oct 15, 2021
VPS13B8Oct 15, 2021
VPS13D2Oct 4, 2021
VPS33B4Oct 15, 2021
VPS351Sep 2, 2021
VRK12Apr 4, 2018
VSX21Sep 2, 2021
VWA3B1Oct 4, 2021
VWF13Sep 2, 2021
WAC1Dec 16, 2021
WARS21Oct 4, 2021
WASHC51Sep 2, 2021
WDPCP2Sep 2, 2021
WDR195Dec 16, 2021
WDR352Sep 2, 2021
WDR451Apr 4, 2018
WDR627Apr 4, 2018
WDR812Apr 4, 2018
WFS115Dec 16, 2021
WIPF11Dec 16, 2021
WNK19Oct 4, 2021
WNT10A5Dec 16, 2021
WNT10B1Sep 2, 2021
WRAP532Sep 2, 2021
WRN7Oct 15, 2021
WT15Oct 15, 2021
WWOX2Apr 4, 2018
XDH3Oct 15, 2021
XG1Dec 16, 2021
XIAP2Sep 2, 2021
XPC2Sep 2, 2021
XRCC41Dec 16, 2021
XYLT11Sep 2, 2021
ZBTB201Sep 2, 2021
ZDHHC151Sep 2, 2021
ZDHHC243Sep 2, 2021
ZDHHC91Sep 2, 2021
ZEB21Apr 4, 2018
ZFPM21Sep 2, 2021
ZFPM2-AS11Sep 2, 2021
ZFYVE264Sep 2, 2021
ZFYVE271Oct 4, 2021
ZIC21Sep 2, 2021
ZIC33Oct 4, 2021
ZMPSTE241Oct 4, 2021
ZNF2921Sep 2, 2021
ZNF412Sep 2, 2021
ZNF4544Sep 2, 2021
ZNF46920Sep 2, 2021
ZNF5922Apr 4, 2018
ZNF6741Sep 2, 2021
ZNF812Sep 2, 2021

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 24Apr 4, 2018
46,XY sex reversal 66Apr 4, 2018
ALDH18A1-related de Barsy syndrome2Apr 4, 2018
ALG8 congenital disorder of glycosylation2Apr 4, 2018
Aarskog syndrome2Apr 4, 2018
Abetalipoproteinaemia6Apr 4, 2018
Acne inversa, familial, 21Apr 4, 2018
Action myoclonus-renal failure syndrome1Apr 4, 2018
Acute intermittent porphyria3Apr 4, 2018
Adams-Oliver syndrome 212Apr 4, 2018
Adrenoleukodystrophy1Apr 4, 2018
Agenesis of the corpus callosum with peripheral neuropathy5Apr 4, 2018
Aicardi-Goutieres syndrome 22Apr 4, 2018
Aicardi-Goutieres syndrome 33Apr 4, 2018
Alpha-1-antitrypsin deficiency2Apr 4, 2018
Alstrom syndrome3Apr 4, 2018
Amelocerebrohypohidrotic syndrome1Apr 4, 2018
Amelogenesis imperfecta, hypocalcification type2Apr 4, 2018
Amyotrophic neuralgia3Apr 4, 2018
Angelman syndrome1Apr 4, 2018
Aortic aneurysm, familial thoracic 43Apr 4, 2018
Aortic aneurysm, familial thoracic 76Apr 4, 2018
Aortic valve disease 111Apr 4, 2018
Apolipoprotein c-III deficiency1Apr 4, 2018
Arginase deficiency1Apr 4, 2018
Arginine:glycine amidinotransferase deficiency3Apr 4, 2018
Arrhythmogenic right ventricular dysplasia 1115Apr 4, 2018
Arrhythmogenic right ventricular dysplasia 922Apr 4, 2018
Aspartylglucosaminuria3Apr 4, 2018
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2Apr 4, 2018
Ataxia-telangiectasia syndrome8Apr 4, 2018
Atrial fibrillation, familial, 71Apr 4, 2018
Atrial septal defect 42Apr 4, 2018
Autism, susceptibility to, 171Apr 4, 2018
Autosomal dominant auditory neuropathy 11Apr 4, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 12Apr 4, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 31Apr 4, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 41Apr 4, 2018
Autosomal dominant nonsyndromic hearing loss 11Apr 4, 2018
Autosomal dominant nonsyndromic hearing loss 2A2Apr 4, 2018
Autosomal dominant nonsyndromic hearing loss 91Apr 4, 2018
Autosomal dominant slowed nerve conduction velocity5Apr 4, 2018
Autosomal recessive DOPA responsive dystonia3Apr 4, 2018
Autosomal recessive ataxia due to ubiquinone deficiency6Apr 4, 2018
Autosomal recessive congenital ichthyosis 112Apr 4, 2018
Autosomal recessive distal spinal muscular atrophy 18Apr 4, 2018
Autosomal recessive hypophosphatemic bone disease1Apr 4, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2P1Apr 4, 2018
Autosomal recessive nonsyndromic hearing loss 281Apr 4, 2018
Autosomal recessive nonsyndromic hearing loss 35Apr 4, 2018
Autosomal recessive polycystic kidney disease6Apr 4, 2018
Autosomal recessive spinocerebellar ataxia 105Apr 4, 2018
Autosomal recessive spinocerebellar ataxia 112Apr 4, 2018
Autosomal recessive spinocerebellar ataxia 135Apr 4, 2018
Bamforth-Lazarus syndrome2Apr 4, 2018
Bardet-Biedl syndrome 119Apr 4, 2018
Bietti crystalline corneoretinal dystrophy1Apr 4, 2018
Biotin-responsive basal ganglia disease2Apr 4, 2018
Biotinidase deficiency1Apr 4, 2018
Bloom syndrome1Apr 4, 2018
Branchiootorenal syndrome 21Apr 4, 2018
Breast-ovarian cancer, familial, susceptibility to, 199Apr 4, 2018
Breast-ovarian cancer, familial, susceptibility to, 2136Apr 4, 2018
Brittle cornea syndrome 118Apr 4, 2018
Brody myopathy2Apr 4, 2018
Bruck syndrome 22Apr 4, 2018
Brugada syndrome 42Apr 4, 2018
CBL-related disorder1Apr 4, 2018
CEDNIK syndrome2Apr 4, 2018
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Apr 4, 2018
Capillary infantile hemangioma1Apr 4, 2018
Cardiac arrhythmia, ankyrin-B-related7Apr 4, 2018
Cardiofaciocutaneous syndrome 42Apr 4, 2018
Carnitine palmitoyl transferase 1A deficiency1Apr 4, 2018
Catecholaminergic polymorphic ventricular tachycardia 24Apr 4, 2018
Cayman type cerebellar ataxia1Apr 4, 2018
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22Apr 4, 2018
Cerebral folate transport deficiency1Apr 4, 2018
Charcot-Marie-Tooth disease axonal type 2N2Apr 4, 2018
Charcot-Marie-Tooth disease axonal type 2P4Apr 4, 2018
Charcot-Marie-Tooth disease type 1C1Apr 4, 2018
Charcot-Marie-Tooth disease type 4B11Apr 4, 2018
Charcot-Marie-Tooth disease type 4B22Apr 4, 2018
Charcot-Marie-Tooth disease type 4D1Apr 4, 2018
Charcot-Marie-Tooth disease type 4H2Apr 4, 2018
Charlevoix-Saguenay spastic ataxia5Apr 4, 2018
Cholestanol storage disease2Apr 4, 2018
Chorea-acanthocytosis17Apr 4, 2018
Christianson syndrome1Apr 4, 2018
Chromosome 2q37 deletion syndrome3Apr 4, 2018
Citrullinemia type I1Apr 4, 2018
Classic homocystinuria2Apr 4, 2018
Cleft lip/palate-ectodermal dysplasia syndrome1Apr 4, 2018
Coenzyme Q10 deficiency, primary, 13Apr 4, 2018
Cohen syndrome4Apr 4, 2018
Colorectal cancer, hereditary nonpolyposis, type 210Apr 4, 2018
Colorectal cancer, hereditary nonpolyposis, type 414Apr 4, 2018
Colorectal cancer, hereditary nonpolyposis, type 518Apr 4, 2018
Colorectal cancer, susceptibility to, 104Apr 4, 2018
Congenital cataracts-facial dysmorphism-neuropathy syndrome3Apr 4, 2018
Congenital contractural arachnodactyly4Apr 4, 2018
Congenital disorder of glycosylation type 1C2Apr 4, 2018
Congenital hyperammonemia, type I4Apr 4, 2018
Congenital microvillous atrophy4Apr 4, 2018
Congenital muscular dystrophy with intellectual disability and severe epilepsy2Apr 4, 2018
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome1Apr 4, 2018
Congenital sensory neuropathy with selective loss of small myelinated fibers1Apr 4, 2018
Congenital total pulmonary venous return anomaly10Apr 4, 2018
Cornelia de Lange syndrome 11Apr 4, 2018
Cranioectodermal dysplasia 11Apr 4, 2018
Creatine transporter deficiency2Apr 4, 2018
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies5Apr 4, 2018
Cutis laxa, autosomal recessive, type 1B1Apr 4, 2018
Cystic leukoencephalopathy without megalencephaly2Apr 4, 2018
Danon disease6Apr 4, 2018
Deafness-intellectual disability, Martin-Probst type syndrome1Apr 4, 2018
Deficiency of alpha-mannosidase3Apr 4, 2018
Deficiency of aromatic-L-amino-acid decarboxylase3Apr 4, 2018
Deficiency of ferroxidase4Apr 4, 2018
Deficiency of guanidinoacetate methyltransferase1Apr 4, 2018
Deficiency of iodide peroxidase8Apr 4, 2018
Deficiency of malonyl-CoA decarboxylase3Apr 4, 2018
Developmental and epileptic encephalopathy, 126Apr 4, 2018
Developmental and epileptic encephalopathy, 24Apr 4, 2018
Developmental and epileptic encephalopathy, 45Apr 4, 2018
Developmental and epileptic encephalopathy, 51Apr 4, 2018
Developmental and epileptic encephalopathy, 94Apr 4, 2018
Diabetes insipidus, nephrogenic, autosomal1Apr 4, 2018
Dihydropteridine reductase deficiency4Apr 4, 2018
Dihydropyrimidine dehydrogenase deficiency2Apr 4, 2018
Dilated cardiomyopathy 1AA24Apr 4, 2018
Dilated cardiomyopathy 1DD28Apr 4, 2018
Dilated cardiomyopathy 1JJ37Apr 4, 2018
Dilated cardiomyopathy 1KK21Apr 4, 2018
Dilated cardiomyopathy 2B2Apr 4, 2018
Distal arthrogryposis type 2B12Apr 4, 2018
Donnai-Barrow syndrome3Apr 4, 2018
Dyskeratosis congenita, X-linked1Apr 4, 2018
Dystonia 161Apr 4, 2018
Dystonia 241Apr 4, 2018
Early-onset generalized limb-onset dystonia1Apr 4, 2018
Ectodermal dysplasia and immunodeficiency 21Apr 4, 2018
Ectopia lentis et pupillae2Apr 4, 2018
Efavirenz response1Apr 4, 2018
Ehlers-Danlos syndrome progeroid type2Apr 4, 2018
Ehlers-Danlos syndrome, dermatosparaxis type10Apr 4, 2018
Eichsfeld type congenital muscular dystrophy3Apr 4, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant10Apr 4, 2018
Endometrial carcinoma1Apr 4, 2018
Epilepsy, childhood absence, susceptibility to, 67Apr 4, 2018
Epilepsy, idiopathic generalized, susceptibility to, 101Apr 4, 2018
Epilepsy, idiopathic generalized, susceptibility to, 111Apr 4, 2018
Epilepsy, progressive myoclonic 51Apr 4, 2018
Episodic ataxia type 11Apr 4, 2018
Fabry disease3Apr 4, 2018
Familial acute necrotizing encephalopathy4Apr 4, 2018
Familial cold autoinflammatory syndrome 21Apr 4, 2018
Familial dysautonomia3Apr 4, 2018
Familial hemophagocytic lymphohistiocytosis 21Apr 4, 2018
Familial hemophagocytic lymphohistiocytosis 35Apr 4, 2018
Familial hemophagocytic lymphohistiocytosis 51Apr 4, 2018
Familial hypokalemia-hypomagnesemia2Apr 4, 2018
Familial isolated deficiency of vitamin E2Apr 4, 2018
Familial thyroid dyshormonogenesis 11Apr 4, 2018
Fanconi anemia complementation group D23Apr 4, 2018
Fibrous dysplasia of jaw1Apr 4, 2018
Finnish congenital nephrotic syndrome4Apr 4, 2018
Focal segmental glomerulosclerosis 11Apr 4, 2018
Focal segmental glomerulosclerosis 3, susceptibility to1Apr 4, 2018
Fraser syndrome 134Apr 4, 2018
Friedreich ataxia 11Apr 4, 2018
Frontotemporal dementia and/or amyotrophic lateral sclerosis 12Apr 4, 2018
Galactosylceramide beta-galactosidase deficiency10Apr 4, 2018
Galloway-Mowat syndrome 12Apr 4, 2018
Geleophysic dysplasia 19Apr 4, 2018
Generalized epilepsy-paroxysmal dyskinesia syndrome1Apr 4, 2018
Glucocorticoid deficiency 41Oct 13, 2015
Glutaric aciduria, type 14Apr 4, 2018
Glycogen storage disease IXa11Apr 4, 2018
Glycogen storage disease type III1Apr 4, 2018
Glycogen storage disease, type II17Apr 4, 2018
Goldberg-Shprintzen megacolon syndrome2Apr 4, 2018
Hennekam lymphangiectasia-lymphedema syndrome 11Apr 4, 2018
Hereditary angioedema type 12Apr 4, 2018
Hereditary coproporphyria2Apr 4, 2018
Hereditary pancreatitis2Apr 4, 2018
Hereditary sensory and autonomic neuropathy type 67Apr 4, 2018
Hereditary sensory and autonomic neuropathy with spastic paraplegia5Apr 4, 2018
Hereditary spastic paraplegia 116Apr 4, 2018
Hereditary spastic paraplegia 151Apr 4, 2018
Hereditary spastic paraplegia 351Apr 4, 2018
Hereditary spastic paraplegia 391Apr 4, 2018
Hereditary spastic paraplegia 41Apr 4, 2018
Hereditary spastic paraplegia 471Apr 4, 2018
Hereditary spastic paraplegia 513Apr 4, 2018
Hereditary spastic paraplegia 61Apr 4, 2018
Hereditary spastic paraplegia 73Apr 4, 2018
Hereditary spherocytosis type 16Apr 4, 2018
Hereditary xanthinuria type 11Apr 4, 2018
Herpes simplex encephalitis, susceptibility to, 21Apr 4, 2018
Heterotaxy, visceral, 4, autosomal3Apr 4, 2018
Holoprosencephaly 91Apr 4, 2018
Holt-Oram syndrome1Apr 4, 2018
Hydatidiform mole, recurrent, 14Apr 4, 2018
Hydrocephalus, nonsyndromic, autosomal recessive 11Apr 4, 2018
Hyper-IgM syndrome type 12Apr 4, 2018
Hyper-IgM syndrome type 22Apr 4, 2018
Hyper-IgM syndrome type 31Apr 4, 2018
Hyperalphalipoproteinemia 12Apr 4, 2018
Hyperammonemia, type III2Apr 4, 2018
Hypercalcemia, infantile, 11Apr 4, 2018
Hypercholesterolemia, autosomal dominant, 314Apr 4, 2018
Hypercholesterolemia, familial, 124Apr 4, 2018
Hypercholesterolemia, familial, 41Apr 4, 2018
Hyperekplexia 11Apr 4, 2018
Hyperekplexia 32Apr 4, 2018
Hypertrophic cardiomyopathy 13Apr 4, 2018
Hypertrophic cardiomyopathy 106Apr 4, 2018
Hypertrophic cardiomyopathy 165Apr 4, 2018
Hypertrophic cardiomyopathy 1712Apr 4, 2018
Hypertrophic cardiomyopathy 198Apr 4, 2018
Hypertrophic cardiomyopathy 452Apr 4, 2018
Hypertrophic cardiomyopathy 82Apr 4, 2018
Hypophosphatemic nephrolithiasis/osteoporosis 21Apr 4, 2018
Idiopathic basal ganglia calcification 11Apr 4, 2018
Immunodeficiency 182Apr 4, 2018
Immunodeficiency 27A2Apr 4, 2018
Immunodeficiency 511Apr 4, 2018
Immunodeficiency-centromeric instability-facial anomalies syndrome 11Apr 4, 2018
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly5Apr 4, 2018
Infantile nephronophthisis2Apr 4, 2018
Infantile-onset X-linked spinal muscular atrophy1Apr 4, 2018
Inflammatory bowel disease 281Apr 4, 2018
Intellectual disability, X-linked 12Apr 4, 2018
Intellectual disability, X-linked 461Apr 4, 2018
Intellectual disability, X-linked 931Apr 4, 2018
Intellectual disability, XMEN-linked 881Apr 4, 2018
Intellectual disability, autosomal dominant 142Apr 4, 2018
Intellectual disability, autosomal dominant 52Apr 4, 2018
Intellectual disability, autosomal dominant 64Apr 4, 2018
Intellectual disability, autosomal recessive 181Apr 4, 2018
Intellectual disability, autosomal recessive 31Apr 4, 2018
Iodotyrosine deiodination defect1Apr 4, 2018
Isolated lutropin deficiency4Apr 4, 2018
Isolated sulfite oxidase deficiency1Apr 4, 2018
Isovaleryl-CoA dehydrogenase deficiency1Apr 4, 2018
Joubert syndrome 174Apr 4, 2018
Joubert syndrome 201Apr 4, 2018
Joubert syndrome 33Apr 4, 2018
Joubert syndrome 81Apr 4, 2018
Kabuki syndrome 11Apr 4, 2018
Kabuki syndrome 21Apr 4, 2018
Kartagener syndrome1Apr 4, 2018
Knobloch syndrome6Apr 4, 2018
Kufor-Rakeb syndrome10Apr 4, 2018
Lafora disease3Apr 4, 2018
Landau-Kleffner syndrome3Apr 4, 2018
Left ventricular noncompaction 18Apr 4, 2018
Left ventricular noncompaction 74Apr 4, 2018
Legius syndrome4Apr 4, 2018
Leukocyte adhesion deficiency 31Apr 4, 2018
Li-Fraumeni syndrome 14Apr 4, 2018
Loeys-Dietz syndrome 41Apr 4, 2018
Long QT syndrome 1111Apr 4, 2018
Lynch syndrome 19Apr 4, 2018
Lysosomal acid lipase deficiency1Apr 4, 2018
MHC class II deficiency1Apr 4, 2018
MPI-CDG4Apr 4, 2018
Malignant tumor of esophagus2Apr 4, 2018
Mandibulofacial dysostosis-microcephaly syndrome3Apr 4, 2018
Maple syrup urine disease3Apr 4, 2018
Marinesco-Sjögren syndrome1Apr 4, 2018
Meckel syndrome, type 101Apr 4, 2018
Meckel syndrome, type 84Apr 4, 2018
Meckel syndrome, type 91Apr 4, 2018
Medulloblastoma1Apr 4, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12Apr 4, 2018
Meier-Gorlin syndrome 42Apr 4, 2018
Merosin deficient congenital muscular dystrophy12Apr 4, 2018
Methylmalonic acidemia with homocystinuria, type cblX1Apr 4, 2018
Methylmalonic aciduria and homocystinuria type cblD1Apr 4, 2018
Methylmalonic aciduria and homocystinuria type cblF1Apr 4, 2018
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5Apr 4, 2018
Microcephalic osteodysplastic primordial dwarfism type II20Apr 4, 2018
Microcephaly 1, primary, autosomal recessive9Apr 4, 2018
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations7Apr 4, 2018
Microcephaly 3, primary, autosomal recessive3Apr 4, 2018
Microcephaly 5, primary, autosomal recessive15Apr 4, 2018
Microcephaly 7, primary, autosomal recessive3Apr 4, 2018
Microcephaly 8, primary, autosomal recessive1Apr 4, 2018
Microcephaly and chorioretinopathy 14Apr 4, 2018
Microcephaly, seizures, and developmental delay4Apr 4, 2018
Mitochondrial DNA depletion syndrome 31Apr 4, 2018
Mitochondrial complex I deficiency1Apr 4, 2018
Mitochondrial complex III deficiency nuclear type 21Apr 4, 2018
Mowat-Wilson syndrome1Apr 4, 2018
Mucopolysaccharidosis, MPS-II1Apr 4, 2018
Mucopolysaccharidosis, MPS-III-A8Apr 4, 2018
Mucopolysaccharidosis, MPS-III-B6Apr 4, 2018
Mucopolysaccharidosis, MPS-III-C1Apr 4, 2018
Mucopolysaccharidosis, MPS-III-D2Apr 4, 2018
Mucopolysaccharidosis, MPS-IV-A3Apr 4, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 13Apr 4, 2018
Multiple cutaneous and mucosal venous malformations3Apr 4, 2018
Multiple endocrine neoplasia type 42Apr 4, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 72Apr 4, 2018
Myoclonic dystonia 111Apr 4, 2018
Myopathy, proximal, and ophthalmoplegia4Apr 4, 2018
Nemaline myopathy 21Apr 4, 2018
Nemaline myopathy 51Apr 4, 2018
Nephrotic syndrome, type 21Apr 4, 2018
Nephrotic syndrome, type 37Apr 4, 2018
Netherton syndrome2Apr 4, 2018
Neuroblastoma, susceptibility to, 311Apr 4, 2018
Neurodegeneration with brain iron accumulation 42Apr 4, 2018
Neurodegeneration with brain iron accumulation 51Apr 4, 2018
Neuronal ceroid lipofuscinosis 13Apr 4, 2018
Neuronal ceroid lipofuscinosis 102Apr 4, 2018
Neuronal ceroid lipofuscinosis 23Apr 4, 2018
Neuronal ceroid lipofuscinosis 53Apr 4, 2018
Neuronopathy, distal hereditary motor, type 2C2Apr 4, 2018
Neuropathy, hereditary sensory and autonomic, type 1A1Apr 4, 2018
Neuropathy, hereditary sensory and autonomic, type 1C1Apr 4, 2018
Neuropathy, hereditary sensory and autonomic, type 2B1Apr 4, 2018
Niemann-Pick disease, type C119Apr 4, 2018
Niemann-Pick disease, type C21Apr 4, 2018
Nijmegen breakage syndrome-like disorder1Apr 4, 2018
Non-ketotic hyperglycinemia7Apr 4, 2018
Norman-Roberts syndrome13Apr 4, 2018
Obesity2Apr 4, 2018
Obesity due to leptin receptor gene deficiency3Apr 4, 2018
Occipital pachygyria and polymicrogyria15Apr 4, 2018
Oculofaciocardiodental syndrome3Apr 4, 2018
Ogden syndrome1Apr 4, 2018
Osteogenesis imperfecta type 122Apr 4, 2018
Osteogenesis imperfecta type 51Apr 4, 2018
Osteogenesis imperfecta type 61Apr 4, 2018
Osteogenesis imperfecta type 74Apr 4, 2018
PHARC syndrome1Apr 4, 2018
PHGDH deficiency1Apr 4, 2018
PMM2-CDG7Apr 4, 2018
Pachyonychia congenita 21Apr 4, 2018
Paget disease of bone 2, early-onset2Apr 4, 2018
Parkinson disease 11, autosomal dominant, susceptibility to5Apr 4, 2018
Parkinson disease 18, autosomal dominant, susceptibility to3Apr 4, 2018
Parkinsonian-pyramidal syndrome6Apr 4, 2018
Parkinsonism-dystonia, infantile, 14Apr 4, 2018
Paroxysmal nonkinesigenic dyskinesia 11Apr 4, 2018
Periventricular heterotopia with microcephaly, autosomal recessive1Apr 4, 2018
Persistent Mullerian duct syndrome2Apr 4, 2018
Phenylketonuria7Apr 4, 2018
Pheochromocytoma1Apr 4, 2018
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1Apr 4, 2018
Phytanic acid storage disease3Apr 4, 2018
Pituitary hormone deficiency, combined, 21Apr 4, 2018
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11Apr 4, 2018
Polyhydramnios, megalencephaly, and symptomatic epilepsy1Apr 4, 2018
Pontocerebellar hypoplasia type 1A2Apr 4, 2018
Pontocerebellar hypoplasia type 1B1Apr 4, 2018
Porencephaly-microcephaly-bilateral congenital cataract syndrome2Apr 4, 2018
Porphobilinogen synthase deficiency1Apr 4, 2018
Posterior column ataxia-retinitis pigmentosa syndrome4Apr 4, 2018
Primary ciliary dyskinesia 105Apr 4, 2018
Primary ciliary dyskinesia 132Apr 4, 2018
Primary ciliary dyskinesia 142Apr 4, 2018
Primary ciliary dyskinesia 159Apr 4, 2018
Primary ciliary dyskinesia 191Apr 4, 2018
Primary ciliary dyskinesia 25Apr 4, 2018
Primary ciliary dyskinesia 94Apr 4, 2018
Progressive myoclonic epilepsy type 62Apr 4, 2018
Prolidase deficiency1Apr 4, 2018
Propionic acidemia2Apr 4, 2018
Proteasome-associated autoinflammatory syndrome 11Apr 4, 2018
Protoporphyria, erythropoietic, 12Apr 4, 2018
Purine-nucleoside phosphorylase deficiency4Apr 4, 2018
Pyridoxine-dependent epilepsy1Apr 4, 2018
Pyruvate dehydrogenase E2 deficiency2Apr 4, 2018
Pyruvate dehydrogenase E3 deficiency2Apr 4, 2018
Renal coloboma syndrome2Apr 4, 2018
Renal hypodysplasia/aplasia 13Apr 4, 2018
Retinitis pigmentosa 257Apr 4, 2018
Retinitis pigmentosa 262Apr 4, 2018
Retinitis pigmentosa 281Apr 4, 2018
Retinitis pigmentosa 451Apr 4, 2018
Rett syndrome, congenital variant2Apr 4, 2018
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1Apr 4, 2018
Rotor syndrome4Apr 4, 2018
Saldino-Mainzer syndrome6Apr 4, 2018
Sandhoff disease1Apr 4, 2018
Secondary hypothyroidism1Apr 4, 2018
Seizures, benign familial neonatal, 21Apr 4, 2018
Senior-Loken syndrome 72Apr 4, 2018
Severe X-linked myotubular myopathy1Apr 4, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type1Apr 4, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1Apr 4, 2018
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Apr 4, 2018
Short-rib thoracic dysplasia 6 with or without polydactyly1Apr 4, 2018
Shwachman-Diamond syndrome 11Apr 4, 2018
Sinoatrial node dysfunction and deafness3Apr 4, 2018
Sjögren-Larsson syndrome1Apr 4, 2018
Skin/hair/eye pigmentation, variation in, 12Apr 4, 2018
Smith-Lemli-Opitz syndrome3Apr 4, 2018
Smith-Magenis syndrome1Apr 4, 2018
Spastic ataxia 42Apr 4, 2018
Spinocerebellar ataxia type 133Apr 4, 2018
Spinocerebellar ataxia type 145Apr 4, 2018
Spinocerebellar ataxia type 171Apr 4, 2018
Spinocerebellar ataxia type 231Apr 4, 2018
Spinocerebellar ataxia type 355Apr 4, 2018
Spinocerebellar ataxia type 53Apr 4, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations1Apr 4, 2018
Steinert myotonic dystrophy syndrome1Apr 4, 2018
Structural heart defects and renal anomalies syndrome1Sep 9, 2021
Succinate-semialdehyde dehydrogenase deficiency1Apr 4, 2018
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A3Apr 4, 2018
Syndromic X-linked intellectual disability 941Apr 4, 2018
Syndromic X-linked intellectual disability Snyder type1Apr 4, 2018
Tay-Sachs disease3Apr 4, 2018
Telangiectasia, hereditary hemorrhagic, type 13Apr 4, 2018
Telangiectasia, hereditary hemorrhagic, type 22Apr 4, 2018
Thyroglobulin synthesis defect5Apr 4, 2018
Thyroid dyshormonogenesis 65Apr 4, 2018
Tooth agenesis, selective, 32Apr 4, 2018
Townes-Brocks syndrome 13Apr 4, 2018
Tyrosinemia type I3Apr 4, 2018
Usher syndrome type 3B1Apr 4, 2018
Van den Ende-Gupta syndrome2Apr 4, 2018
Vesicoureteral reflux 22Apr 4, 2018
Vitamin B12-responsive methylmalonic acidemia type cblA1Apr 4, 2018
Vitamin B12-responsive methylmalonic acidemia type cblB3Apr 4, 2018
Wagner syndrome2Apr 4, 2018
Warburg micro syndrome 12Apr 4, 2018
Weill-Marchesani 4 syndrome, recessive10Apr 4, 2018
Weill-Marchesani syndrome 11Apr 4, 2018
Wilson disease14Apr 4, 2018
Wolcott-Rallison dysplasia4Apr 4, 2018
Woodhouse-Sakati syndrome4Apr 4, 2018
X-linked Emery-Dreifuss muscular dystrophy3Apr 4, 2018
X-linked central congenital hypothyroidism with late-onset testicular enlargement3Apr 4, 2018
X-linked chondrodysplasia punctata 11Apr 4, 2018
X-linked intellectual disability Cabezas type1Apr 4, 2018
X-linked intellectual disability, Stocco dos Santos type1Apr 4, 2018
X-linked intellectual disability-cerebellar hypoplasia syndrome1Apr 4, 2018
X-linked lymphoproliferative disease due to XIAP deficiency1Apr 4, 2018
X-linked progressive cerebellar ataxia7Apr 4, 2018
Xeroderma pigmentosum variant type1Apr 4, 2018
Xeroderma pigmentosum, group G1Apr 4, 2018
not provided4211Dec 16, 2021
not specified2483Dec 16, 2021
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