Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC (Erasmus Medical Center), CGDx-EMC

General information

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, CGDx-EMC
Erasmus Medical Center
Wytemaweg 80
Rotterdam
Zuid-Holland
Netherlands - 3015GE
http://www.erasmusmc.nl
Organization ID: 506497

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 15750

Gene

GeneSubmissionsLast Updated
A2ML112Dec 16, 2021
AAAS1Sep 21, 2021
AARS18Sep 21, 2021
AARS21Sep 21, 2021
ABCA111Dec 16, 2021
ABCA121Sep 21, 2021
ABCA21Sep 21, 2021
ABCA32Dec 16, 2021
ABCA447Dec 16, 2021
ABCB113Dec 16, 2021
ABCB43Sep 21, 2021
ABCB64Sep 21, 2021
ABCB72Sep 21, 2021
ABCC21Sep 21, 2021
ABCC31Dec 16, 2021
ABCC619Dec 16, 2021
ABCC85Dec 16, 2021
ABCC949Dec 16, 2021
ABCD19Dec 16, 2021
ABCG59Dec 16, 2021
ABCG89Oct 15, 2021
ABHD124Sep 21, 2021
ABL17Dec 16, 2021
ACAD81Dec 16, 2021
ACAD93Sep 21, 2021
ACADM1Sep 21, 2021
ACADVL1Sep 21, 2021
ACAN13Dec 16, 2021
ACD3Sep 21, 2021
ACE5Dec 16, 2021
ACE22Sep 21, 2021
ACO25Dec 16, 2021
ACOT91Sep 21, 2021
ACP51Sep 21, 2021
ACSL42Sep 21, 2021
ACTA25Sep 21, 2021
ACTB3Sep 21, 2021
ACTC112Oct 15, 2021
ACTG113Oct 15, 2021
ACTG21Oct 15, 2021
ACTL6B1Sep 21, 2021
ACTN237Oct 15, 2021
ACTN41Sep 21, 2021
ACTRT12Dec 16, 2021
ACVR2B6Apr 9, 2018
ACYP11Sep 21, 2021
ADA7Sep 21, 2021
ADA24Sep 21, 2021
ADAM173Oct 15, 2021
ADAM93Oct 15, 2021
ADAMTS104Sep 21, 2021
ADAMTS176Oct 15, 2021
ADAMTS186Dec 16, 2021
ADAMTS22Sep 21, 2021
ADAMTS31Sep 21, 2021
ADAMTSL44Oct 15, 2021
ADAMTSL4-AS21Sep 21, 2021
ADAR7Sep 21, 2021
ADCY54Sep 21, 2021
ADGRA32Sep 21, 2021
ADGRG14Sep 21, 2021
ADGRG42Dec 16, 2021
ADGRV171Oct 15, 2021
ADNP3Sep 21, 2021
ADNP-AS13Sep 21, 2021
ADSL3Oct 15, 2021
AEBP11Sep 21, 2021
AFF27Dec 16, 2021
AFG3L27Dec 16, 2021
AGA7Sep 21, 2021
AGAP22Dec 16, 2021
AGBL21Sep 21, 2021
AGBL51Sep 21, 2021
AGL2Oct 15, 2021
AGPAT22Dec 16, 2021
AGPS1Sep 21, 2021
AGRN3Dec 16, 2021
AGT2Dec 16, 2021
AGTR21Sep 21, 2021
AHCY1Sep 21, 2021
AHDC11Sep 21, 2021
AHI116Oct 15, 2021
AHNAK1Sep 21, 2021
AHNAK21Sep 21, 2021
AHR1Sep 21, 2021
AHRR1Sep 21, 2021
AIFM14Sep 21, 2021
AIP2Sep 21, 2021
AIPL111Sep 21, 2021
AIRE10Oct 15, 2021
AK24Sep 21, 2021
AKAP41Sep 21, 2021
AKAP912Dec 16, 2021
AKT19Dec 16, 2021
AKT22Oct 15, 2021
AKT31Sep 21, 2021
ALAS22Sep 21, 2021
ALDH18A12Sep 21, 2021
ALDH1A31Sep 21, 2021
ALDH3A23Sep 21, 2021
ALDH5A12Sep 21, 2021
ALDH7A12Oct 15, 2021
ALDOB1Sep 21, 2021
ALG14Sep 21, 2021
ALG111Sep 21, 2021
ALG121Sep 21, 2021
ALG1313Sep 21, 2021
ALG21Sep 21, 2021
ALG63Sep 21, 2021
ALG81Dec 16, 2021
ALG91Sep 21, 2021
ALK16Sep 21, 2021
ALMS144Oct 15, 2021
ALOX12B1Sep 21, 2021
ALPK354Dec 16, 2021
ALPL11Sep 21, 2021
ALS221Oct 15, 2021
ALX43Sep 21, 2021
AMER16Sep 21, 2021
AMH3Sep 21, 2021
AMHR21Apr 9, 2018
AMPD21Oct 15, 2021
AMT2Sep 21, 2021
ANG2Sep 21, 2021
ANGPT12Oct 15, 2021
ANGPT21Sep 21, 2021
ANK210Sep 21, 2021
ANK34Oct 15, 2021
ANKAR1Sep 21, 2021
ANKEF11Sep 21, 2021
ANKLE11Sep 21, 2021
ANKRD117Sep 21, 2021
ANKRD1113Oct 15, 2021
ANKRD264Sep 21, 2021
ANKS63Dec 16, 2021
ANO107Sep 21, 2021
ANO32Sep 21, 2021
ANO59Dec 16, 2021
ANOS13Sep 21, 2021
AOPEP1Sep 21, 2021
AP1S32Sep 21, 2021
AP3B113Dec 16, 2021
AP3B22Sep 21, 2021
AP3D111Dec 16, 2021
AP4B13Sep 21, 2021
AP4B1-AS16Sep 21, 2021
AP4E14Sep 21, 2021
AP4M13Oct 15, 2021
AP5Z15Sep 21, 2021
APC43Dec 16, 2021
APC22Oct 15, 2021
APOA12Sep 21, 2021
APOA1-AS1Sep 21, 2021
APOA23Oct 15, 2021
APOA51Sep 21, 2021
APOB41Dec 16, 2021
APOC22Dec 16, 2021
APOC33Dec 16, 2021
APOC4-APOC22Dec 16, 2021
APOL17Oct 15, 2021
APP4Dec 16, 2021
APTX6Sep 21, 2021
AR15Sep 21, 2021
ARFGEF13Oct 15, 2021
ARFGEF21Apr 9, 2018
ARHGAP311Sep 21, 2021
ARHGAP41Sep 21, 2021
ARHGAP61Sep 21, 2021
ARHGEF12Dec 16, 2021
ARHGEF106Oct 15, 2021
ARHGEF184Dec 16, 2021
ARHGEF2825Sep 21, 2021
ARHGEF63Sep 21, 2021
ARHGEF92Sep 21, 2021
ARID1A6Sep 21, 2021
ARID1B9Dec 16, 2021
ARL13B2Apr 9, 2018
ARL2BP2Sep 21, 2021
ARL31Sep 21, 2021
ARL65Dec 16, 2021
ARMC51Sep 21, 2021
ARMCX21Sep 21, 2021
ARMCX41Sep 21, 2021
ARMCX5-GPRASP21Sep 21, 2021
ARNT21Oct 15, 2021
ARPC1B1Sep 21, 2021
ARR31Sep 21, 2021
ARSA7Oct 15, 2021
ARSB5Dec 16, 2021
ARSG1Dec 16, 2021
ARSH1Dec 16, 2021
ARSL2Sep 21, 2021
ARV11Sep 21, 2021
ARVCF1Sep 21, 2021
ARX7Sep 21, 2021
ASAH14Sep 21, 2021
ASB101Sep 21, 2021
ASB111Sep 21, 2021
ASB181Sep 21, 2021
ASB91Sep 21, 2021
ASCC31Sep 21, 2021
ASCL15Sep 21, 2021
ASH1L1Dec 16, 2021
ASIC4-AS11Sep 21, 2021
ASL1Sep 21, 2021
ASPA1Sep 21, 2021
ASPH7Dec 16, 2021
ASPM23Sep 21, 2021
ASRGL12Sep 21, 2021
ASS11Sep 21, 2021
ASTN24Dec 16, 2021
ASXL113Dec 16, 2021
ASXL32Dec 16, 2021
ATAD3A2Dec 16, 2021
ATAD3B1Sep 21, 2021
ATCAY2Sep 21, 2021
ATF62Sep 21, 2021
ATIC1Sep 21, 2021
ATL13Dec 16, 2021
ATM90Dec 16, 2021
ATN13Oct 15, 2021
ATP11C1Sep 21, 2021
ATP13A220Dec 16, 2021
ATP1A27Dec 16, 2021
ATP1A311Sep 21, 2021
ATP2A21Sep 21, 2021
ATP2B21Sep 21, 2021
ATP2B39Sep 21, 2021
ATP2C11Oct 15, 2021
ATP6AP11Sep 21, 2021
ATP6AP24Sep 21, 2021
ATP6V0A210Oct 15, 2021
ATP6V0A41Sep 21, 2021
ATP6V1B11Oct 15, 2021
ATP6V1H1Sep 21, 2021
ATP7A10Dec 16, 2021
ATP7B23Dec 16, 2021
ATP8A22Sep 21, 2021
ATP8B11Sep 21, 2021
ATP8B31Dec 16, 2021
ATR16Sep 21, 2021
ATRIP11Dec 16, 2021
ATRIP-TREX111Dec 16, 2021
ATRX15Oct 15, 2021
ATXN16Sep 21, 2021
ATXN103Dec 16, 2021
ATXN33Sep 21, 2021
ATXN76Dec 16, 2021
AUH1Dec 16, 2021
AUTS26Oct 15, 2021
AVPR23Sep 21, 2021
AXDND11Sep 21, 2021
AXIN11Sep 21, 2021
AXIN212Sep 21, 2021
B3GALNT21Apr 9, 2018
B3GALT61Sep 21, 2021
B3GAT34Sep 21, 2021
B3GLCT3Sep 21, 2021
B4GALT72Sep 21, 2021
B9D11Sep 21, 2021
B9D22Sep 21, 2021
BACH23Dec 16, 2021
BAG323Oct 15, 2021
BAP14Dec 16, 2021
BARD13Sep 21, 2021
BBIP11Sep 21, 2021
BBS112Sep 21, 2021
BBS104Sep 21, 2021
BBS1217Sep 21, 2021
BBS212Dec 16, 2021
BBS412Sep 21, 2021
BBS52Oct 15, 2021
BBS75Sep 21, 2021
BBS912Sep 21, 2021
BCAP313Oct 15, 2021
BCKDHA1Apr 9, 2018
BCKDHB1Sep 21, 2021
BCOR8Sep 21, 2021
BCORL13Oct 15, 2021
BCR1Sep 21, 2021
BEST119Oct 15, 2021
BFSP22Sep 21, 2021
BFSP2-AS12Sep 21, 2021
BGN2Sep 21, 2021
BICD22Sep 21, 2021
BIVM-ERCC519Sep 21, 2021
BLK5Dec 16, 2021
BLM17Sep 21, 2021
BLOC1S1-RDH51Dec 16, 2021
BLOC1S62Sep 21, 2021
BMP11Sep 21, 2021
BMP151Sep 21, 2021
BMP44Dec 16, 2021
BMPER1Sep 21, 2021
BMPR1A2Sep 21, 2021
BRAF4Oct 15, 2021
BRAT12Sep 21, 2021
BRCA1182Dec 16, 2021
BRCA2300Dec 16, 2021
BRIP16Sep 21, 2021
BRWD36Dec 16, 2021
BSCL21Sep 21, 2021
BSND1Sep 21, 2021
BTD4Sep 21, 2021
BTK2Sep 21, 2021
BUB1B2Sep 21, 2021
BUB1B-PAK61Sep 21, 2021
C10orf1056Sep 21, 2021
C11orf6530Dec 16, 2021
C12orf431Sep 21, 2021
C12orf571Sep 21, 2021
C12orf601Sep 21, 2021
C19orf126Sep 21, 2021
C1QA4Oct 15, 2021
C1QB4Sep 21, 2021
C1QTNF57Oct 15, 2021
C1R1Sep 21, 2021
C1S3Sep 21, 2021
C1orf1051Oct 15, 2021
C23Sep 21, 2021
C2CD34Sep 21, 2021
C312Oct 15, 2021
C4A2Sep 21, 2021
C53Dec 16, 2021
C66Dec 16, 2021
C73Oct 15, 2021
C8A4Oct 15, 2021
C8B3Sep 21, 2021
C8G1Sep 21, 2021
C94Sep 21, 2021
C9orf722Sep 21, 2021
CA43Dec 16, 2021
CA81Sep 21, 2021
CABP21Sep 21, 2021
CABP42Sep 21, 2021
CACNA1A40Dec 16, 2021
CACNA1B7Oct 15, 2021
CACNA1C16Oct 15, 2021
CACNA1C-AS16Sep 21, 2021
CACNA1D18Dec 16, 2021
CACNA1E1Dec 16, 2021
CACNA1F12Sep 21, 2021
CACNA1G7Oct 15, 2021
CACNA1H9Sep 21, 2021
CACNA1S2Sep 21, 2021
CACNA2D11Sep 21, 2021
CACNA2D410Dec 16, 2021
CACNB22Sep 21, 2021
CACNB47Dec 16, 2021
CALR322Sep 21, 2021
CALU1Sep 21, 2021
CAMK11Apr 9, 2018
CAMTA13Oct 15, 2021
CAPN13Oct 15, 2021
CAPN101Oct 15, 2021
CAPN56Oct 15, 2021
CARD112Oct 15, 2021
CARD148Dec 16, 2021
CARD93Sep 21, 2021
CARMIL24Sep 21, 2021
CASD11Sep 21, 2021
CASK5Dec 16, 2021
CASP103Sep 21, 2021
CASP81Sep 21, 2021
CASQ220Sep 21, 2021
CASR2Sep 21, 2021
CATIP-AS22Dec 16, 2021
CAV11Sep 21, 2021
CAV38Dec 16, 2021
CAVIN12Oct 15, 2021
CBL7Sep 21, 2021
CBR41Sep 21, 2021
CBS6Dec 16, 2021
CBX21Oct 15, 2021
CC2D1A1Apr 9, 2018
CC2D2A22Oct 15, 2021
CCBE14Sep 21, 2021
CCDC1201Sep 21, 2021
CCDC225Sep 21, 2021
CCDC395Sep 21, 2021
CCDC4014Sep 21, 2021
CCDC88C12Dec 16, 2021
CCM28Dec 16, 2021
CCND22Sep 21, 2021
CCNQ3Dec 16, 2021
CCT51Sep 21, 2021
CD191Sep 21, 2021
CD362Dec 16, 2021
CD3E1Apr 9, 2018
CD401Sep 21, 2021
CD462Sep 21, 2021
CD552Sep 21, 2021
CD592Sep 21, 2021
CD79A1Sep 21, 2021
CD814Dec 16, 2021
CDAN11Sep 21, 2021
CDC61Sep 21, 2021
CDC732Oct 15, 2021
CDCA31Sep 21, 2021
CDCA71Sep 21, 2021
CDCA7L1Sep 21, 2021
CDH17Oct 15, 2021
CDH151Oct 15, 2021
CDH21Oct 15, 2021
CDH2364Oct 15, 2021
CDH23-AS13Sep 21, 2021
CDH35Sep 21, 2021
CDHR111Oct 15, 2021
CDK162Dec 16, 2021
CDK41Sep 21, 2021
CDK5RAP211Sep 21, 2021
CDKL58Oct 15, 2021
CDKN1A2Sep 21, 2021
CDKN1B1Apr 9, 2018
CDKN1C3Sep 21, 2021
CDKN2A4Sep 21, 2021
CDT12Dec 16, 2021
CEACAM161Dec 16, 2021
CEBPA2Sep 21, 2021
CEL8Dec 16, 2021
CEMIP21Sep 21, 2021
CENPF1Oct 15, 2021
CENPI1Sep 21, 2021
CENPJ14Dec 16, 2021
CEP1044Dec 16, 2021
CEP1203Sep 21, 2021
CEP1281Sep 21, 2021
CEP1352Sep 21, 2021
CEP15215Dec 16, 2021
CEP1645Dec 16, 2021
CEP2504Dec 16, 2021
CEP29030Dec 16, 2021
CEP417Dec 16, 2021
CEP632Sep 21, 2021
CEP783Sep 21, 2021
CEP831Oct 15, 2021
CEP85L4Sep 21, 2021
CEP891Sep 21, 2021
CERKL13Sep 21, 2021
CERS15Sep 21, 2021
CERT11Sep 21, 2021
CFAP4102Sep 21, 2021
CFAP4185Sep 21, 2021
CFAP418-AS11Sep 21, 2021
CFAP531Sep 21, 2021
CFAP921Sep 21, 2021
CFB3Sep 21, 2021
CFC11Sep 21, 2021
CFD1Oct 15, 2021
CFH20Dec 16, 2021
CFHR31Sep 21, 2021
CFHR42Sep 21, 2021
CFHR59Oct 15, 2021
CFI4Sep 21, 2021
CFP4Sep 21, 2021
CFTR65Dec 16, 2021
CFTR-AS16Sep 21, 2021
CHCHD101Sep 21, 2021
CHD22Sep 21, 2021
CHD31Sep 21, 2021
CHD752Dec 16, 2021
CHD82Sep 21, 2021
CHEK221Dec 16, 2021
CHIC11Sep 21, 2021
CHKB1Sep 21, 2021
CHKB-CPT1B1Sep 21, 2021
CHM3Sep 21, 2021
CHMP2B4Sep 21, 2021
CHRDL12Sep 21, 2021
CHRNA11Sep 21, 2021
CHRNA21Sep 21, 2021
CHRNA41Sep 21, 2021
CHRND3Dec 16, 2021
CHRNE1Dec 16, 2021
CHROMR2Sep 21, 2021
CHST34Sep 21, 2021
CIB22Sep 21, 2021
CIC3Sep 21, 2021
CIITA4Sep 21, 2021
CILK11Sep 21, 2021
CISD21Sep 21, 2021
CIT1Sep 21, 2021
CITED22Oct 15, 2021
CIZ13Sep 21, 2021
CLCN12Dec 16, 2021
CLCN25Dec 16, 2021
CLCN51Sep 21, 2021
CLCN71Sep 21, 2021
CLCNKB3Oct 15, 2021
CLDN191Sep 21, 2021
CLEC4D1Sep 21, 2021
CLEC7A1Sep 21, 2021
CLIC51Sep 21, 2021
CLN313Sep 21, 2021
CLN59Sep 21, 2021
CLN64Oct 15, 2021
CLN84Sep 21, 2021
CLPB1Sep 21, 2021
CLRN13Oct 15, 2021
CLTC1Oct 15, 2021
CMC41Sep 21, 2021
CNGA16Oct 15, 2021
CNGA310Dec 16, 2021
CNGB118Dec 16, 2021
CNGB39Sep 21, 2021
CNKSR21Sep 21, 2021
CNNM21Oct 15, 2021
CNNM43Sep 21, 2021
CNTN11Sep 21, 2021
CNTNAP221Sep 21, 2021
CNTNAP41Sep 21, 2021
COA81Oct 15, 2021
COASY3Sep 21, 2021
COCH4Sep 21, 2021
COG51Sep 21, 2021
COG62Sep 21, 2021
COL10A13Oct 15, 2021
COL11A124Dec 16, 2021
COL11A228Dec 16, 2021
COL12A15Oct 15, 2021
COL17A13Sep 21, 2021
COL18A130Oct 15, 2021
COL1A113Dec 16, 2021
COL1A211Dec 16, 2021
COL25A11Sep 21, 2021
COL2A124Dec 16, 2021
COL3A120Sep 21, 2021
COL4A149Dec 16, 2021
COL4A233Dec 16, 2021
COL4A2-AS15Sep 21, 2021
COL4A2-AS23Dec 16, 2021
COL4A316Oct 15, 2021
COL4A410Sep 21, 2021
COL4A54Sep 21, 2021
COL4A62Sep 21, 2021
COL5A129Dec 16, 2021
COL5A212Sep 21, 2021
COL6A13Sep 21, 2021
COL6A28Dec 16, 2021
COL6A313Dec 16, 2021
COL7A19Oct 15, 2021
COL9A115Dec 16, 2021
COL9A212Dec 16, 2021
COL9A315Dec 16, 2021
COLEC111Sep 21, 2021
COMP1Dec 16, 2021
COMT6Sep 21, 2021
COPA2Dec 16, 2021
COQ25Sep 21, 2021
COQ8A15Dec 16, 2021
COQ91Sep 21, 2021
CORO1A5Oct 15, 2021
COX101Sep 21, 2021
COX151Sep 21, 2021
COX201Sep 21, 2021
CP22Oct 15, 2021
CPEB1-AS12Sep 21, 2021
CPLANE139Oct 15, 2021
CPOX2Apr 9, 2018
CPS111Dec 16, 2021
CPSF13Dec 16, 2021
CPT1A1Sep 21, 2021
CPT23Oct 15, 2021
CR25Dec 16, 2021
CRADD1Sep 21, 2021
CRB112Sep 21, 2021
CRB210Oct 15, 2021
CREBBP15Dec 16, 2021
CRELD13Sep 21, 2021
CRPPA8Dec 16, 2021
CRPPA-AS12Dec 16, 2021
CRX1Sep 21, 2021
CRYAB6Sep 21, 2021
CRYBA42Sep 21, 2021
CRYBB11Sep 21, 2021
CRYM1Sep 21, 2021
CSAG11Sep 21, 2021
CSF1R25Dec 16, 2021
CSF2RA2Sep 21, 2021
CSF2RB3Sep 21, 2021
CSF3R5Sep 21, 2021
CSPP16Oct 15, 2021
CSRP311Sep 21, 2021
CSTB1Apr 9, 2018
CTC17Dec 16, 2021
CTCF1Sep 21, 2021
CTDP16Sep 21, 2021
CTLA41Sep 21, 2021
CTNNA15Sep 21, 2021
CTNNA340Oct 15, 2021
CTNNB11Sep 21, 2021
CTNND11Sep 21, 2021
CTNND22Sep 21, 2021
CTSA2Dec 16, 2021
CTSC2Sep 21, 2021
CTSD9Sep 21, 2021
CTSF5Sep 21, 2021
CTU21Sep 21, 2021
CUBN12Dec 16, 2021
CUL31Oct 15, 2021
CUL4B3Sep 21, 2021
CUL71Sep 21, 2021
CUX21Sep 21, 2021
CXCR41Sep 21, 2021
CXorf382Sep 21, 2021
CYBA1Sep 21, 2021
CYBB1Sep 21, 2021
CYGB1Sep 21, 2021
CYP11B11Sep 21, 2021
CYP17A11Oct 15, 2021
CYP1B11Sep 21, 2021
CYP21A22Dec 16, 2021
CYP27A120Oct 15, 2021
CYP2B61Apr 9, 2018
CYP2U11Sep 21, 2021
CYP4V21Sep 21, 2021
D2HGDH1Sep 21, 2021
DAG11Sep 21, 2021
DARS21Dec 16, 2021
DBH1Sep 21, 2021
DBT4Sep 21, 2021
DCAF12L11Sep 21, 2021
DCAF174Sep 21, 2021
DCC1Sep 21, 2021
DCDC21Sep 21, 2021
DCHS140Oct 15, 2021
DCLRE1B1Sep 21, 2021
DCLRE1C3Sep 21, 2021
DCTN113Oct 15, 2021
DCX5Sep 21, 2021
DDB21Sep 21, 2021
DDC2Sep 21, 2021
DDHD11Sep 21, 2021
DDHD23Sep 21, 2021
DDOST1Sep 21, 2021
DDX115Sep 21, 2021
DDX511Sep 21, 2021
DDX582Sep 21, 2021
DEAF11Sep 21, 2021
DENND5A1Oct 15, 2021
DEPDC56Dec 16, 2021
DES28Sep 21, 2021
DGAT14Oct 15, 2021
DGKE5Sep 21, 2021
DGUOK1Sep 21, 2021
DHCR78Oct 15, 2021
DHDDS1Sep 21, 2021
DHFR3Oct 15, 2021
DHH1Dec 16, 2021
DHX388Sep 21, 2021
DIAPH15Sep 21, 2021
DIAPH31Sep 21, 2021
DICER112Dec 16, 2021
DIS3L21Sep 21, 2021
DKC14Sep 21, 2021
DLAT5Sep 21, 2021
DLC11Dec 16, 2021
DLD4Sep 21, 2021
DLX31Sep 21, 2021
DM1-AS3Sep 21, 2021
DMD41Dec 16, 2021
DMP13Oct 15, 2021
DMPK4Sep 21, 2021
DNA21Sep 21, 2021
DNAAF16Dec 16, 2021
DNAAF111Apr 9, 2018
DNAAF25Apr 9, 2018
DNAAF310Sep 21, 2021
DNAAF52Sep 21, 2021
DNAH1126Dec 16, 2021
DNAH171Sep 21, 2021
DNAH535Oct 15, 2021
DNAH61Sep 21, 2021
DNAI12Sep 21, 2021
DNAI24Sep 21, 2021
DNAJB61Sep 21, 2021
DNAJC1315Sep 21, 2021
DNAJC161Sep 21, 2021
DNAJC214Sep 21, 2021
DNAJC51Sep 21, 2021
DNAJC67Sep 21, 2021
DNASE11Sep 21, 2021
DNASE1L12Sep 21, 2021
DNASE1L31Sep 21, 2021
DNM11Dec 16, 2021
DNMT125Sep 21, 2021
DNMT3A2Dec 16, 2021
DNMT3B6Dec 16, 2021
DOCK111Sep 21, 2021
DOCK26Dec 16, 2021
DOCK615Dec 16, 2021
DOCK815Sep 21, 2021
DOK71Dec 16, 2021
DPM13Sep 21, 2021
DPP65Sep 21, 2021
DPYD3Sep 21, 2021
DPYD-AS11Sep 21, 2021
DPYSL51Sep 21, 2021
DRD44Sep 21, 2021
DRP21Sep 21, 2021
DSC235Dec 16, 2021
DSC31Sep 21, 2021
DSCAS2Sep 21, 2021
DSG11Sep 21, 2021
DSG1-AS11Sep 21, 2021
DSG262Dec 16, 2021
DSG2-AS124Dec 16, 2021
DSP86Oct 15, 2021
DSP-AS17Sep 21, 2021
DSPP14Sep 21, 2021
DST29Dec 16, 2021
DTHD11Sep 21, 2021
DTNA10Oct 15, 2021
DTNBP16Dec 16, 2021
DUOX11Sep 21, 2021
DUOX213Sep 21, 2021
DUS4L1Sep 21, 2021
DUS4L-BCAP291Sep 21, 2021
DUSP291Sep 21, 2021
DYNC1H135Sep 21, 2021
DYNC2H139Dec 16, 2021
DYNC2I11Sep 21, 2021
DYNC2LI18Dec 16, 2021
DYSF6Dec 16, 2021
EBP2Sep 21, 2021
ECEL11Sep 21, 2021
ECHS11Dec 16, 2021
EDA2Sep 21, 2021
EDA2R1Sep 21, 2021
EEF1A21Sep 21, 2021
EEF21Sep 21, 2021
EEF2KMT1Sep 21, 2021
EFEMP12Sep 21, 2021
EFEMP210Sep 21, 2021
EFHB2Sep 21, 2021
EFHC21Sep 21, 2021
EFNB11Sep 21, 2021
EFTUD24Sep 21, 2021
EGF3Sep 21, 2021
EGFR1Sep 21, 2021
EHMT14Oct 15, 2021
EIF2AK35Dec 16, 2021
EIF2B21Sep 21, 2021
EIF2S31Dec 16, 2021
EIF4G123Oct 15, 2021
ELANE3Sep 21, 2021
ELF43Dec 16, 2021
ELN17Sep 21, 2021
ELN-AS14Sep 21, 2021
ELOVL41Sep 21, 2021
ELP44Dec 16, 2021
EMC15Sep 21, 2021
EMC1-AS15Sep 21, 2021
EMD14Dec 16, 2021
EMG11Sep 21, 2021
ENG2Sep 21, 2021
ENPP12Sep 21, 2021
EP3006Sep 21, 2021
EPB411Sep 21, 2021
EPCAM1Sep 21, 2021
EPG511Sep 21, 2021
EPHB41Sep 21, 2021
EPM2A2Sep 21, 2021
ERBB411Sep 21, 2021
ERCC219Dec 16, 2021
ERCC33Oct 15, 2021
ERCC43Sep 21, 2021
ERCC519Sep 21, 2021
ERCC618Dec 16, 2021
ERCC6-PGBD35Sep 21, 2021
ERCC6L2Dec 16, 2021
ERCC6L21Dec 16, 2021
ERCC81Sep 21, 2021
ERF1Sep 21, 2021
ERMARD1Dec 16, 2021
ESCO23Dec 16, 2021
ESPN4Dec 16, 2021
ESR12Sep 21, 2021
ESR24Sep 21, 2021
ESX11Sep 21, 2021
ETFB1Apr 9, 2018
ETHE11Sep 21, 2021
EVC8Dec 16, 2021
EVC28Oct 15, 2021
EXO12Sep 21, 2021
EXOSC22Sep 21, 2021
EXOSC31Sep 21, 2021
EXT22Dec 16, 2021
EXTL31Sep 21, 2021
EYA14Sep 21, 2021
EYA48Sep 21, 2021
EYS46Dec 16, 2021
EZH21Sep 21, 2021
F101Sep 21, 2021
F122Sep 21, 2021
F13A11Sep 21, 2021
F82Sep 21, 2021
FA2H6Sep 21, 2021
FAAH22Sep 21, 2021
FAAP242Sep 21, 2021
FADD2Sep 21, 2021
FAH2Sep 21, 2021
FAM104B2Dec 16, 2021
FAM111A1Oct 15, 2021
FAM161A8Oct 15, 2021
FAM47A1Sep 21, 2021
FAN14Sep 21, 2021
FANCA6Sep 21, 2021
FANCB6Oct 15, 2021
FANCC3Sep 21, 2021
FANCD26Sep 21, 2021
FANCI10Sep 21, 2021
FANCL2Sep 21, 2021
FANCM3Oct 15, 2021
FARS21Sep 21, 2021
FAS3Sep 21, 2021
FASLG1Sep 21, 2021
FAT16Dec 16, 2021
FAT21Oct 15, 2021
FAT447Sep 21, 2021
FBLN11Dec 16, 2021
FBN152Dec 16, 2021
FBN246Dec 16, 2021
FBXL33Sep 21, 2021
FBXO381Sep 21, 2021
FBXO77Sep 21, 2021
FCGBP1Dec 16, 2021
FCGR1A1Sep 21, 2021
FCGR2A3Sep 21, 2021
FCGR2B1Sep 21, 2021
FCGR3A1Sep 21, 2021
FCGR3B1Sep 21, 2021
FCN35Oct 15, 2021
FECH4Dec 16, 2021
FERMT35Sep 21, 2021
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TUBB35Sep 21, 2021
TUBB4A1Sep 21, 2021
TUBGCP41Sep 21, 2021
TUBGCP66Oct 15, 2021
TULP14Sep 21, 2021
TWIST13Sep 21, 2021
TWNK2Sep 21, 2021
TXNRD215Oct 15, 2021
TYK22Sep 21, 2021
TYMP1Sep 21, 2021
TYR7Oct 15, 2021
TYROBP3Sep 21, 2021
TYRP14Sep 21, 2021
UBA12Sep 21, 2021
UBA51Sep 21, 2021
UBAP11Sep 21, 2021
UBE3A4Sep 21, 2021
UBQLN23Sep 21, 2021
UCHL12Sep 21, 2021
UGDH1Sep 21, 2021
UGT1A5Sep 21, 2021
UGT1A15Sep 21, 2021
UGT1A105Sep 21, 2021
UGT1A35Sep 21, 2021
UGT1A45Sep 21, 2021
UGT1A55Sep 21, 2021
UGT1A65Sep 21, 2021
UGT1A75Sep 21, 2021
UGT1A85Sep 21, 2021
UGT1A95Sep 21, 2021
UMOD1Sep 21, 2021
UNC1192Sep 21, 2021
UNC13D11Sep 21, 2021
UNC801Dec 16, 2021
UNC93B14Sep 21, 2021
UNG4Sep 21, 2021
UPB12Sep 21, 2021
UPRT1Sep 21, 2021
UROC11Sep 21, 2021
UROD1Sep 21, 2021
USB11Sep 21, 2021
USF31Sep 21, 2021
USH1C10Sep 21, 2021
USH1G7Sep 21, 2021
USH2A97Dec 16, 2021
USH2A-AS15Sep 21, 2021
USH2A-AS25Oct 15, 2021
USP111Sep 21, 2021
USP17L191Sep 21, 2021
USP261Sep 21, 2021
USP9X2Sep 21, 2021
UTP14A1Sep 21, 2021
VAMP11Sep 21, 2021
VANGL14Apr 9, 2018
VAPB3Sep 21, 2021
VAV13Sep 21, 2021
VCAN19Sep 21, 2021
VCAN-AS19Sep 21, 2021
VCL49Dec 16, 2021
VCP10Sep 21, 2021
VCX2Dec 16, 2021
VCX21Sep 21, 2021
VCX3A3Dec 16, 2021
VCX3B1Sep 21, 2021
VEGFA1Sep 21, 2021
VEGFD1Dec 16, 2021
VHL9Sep 21, 2021
VLDLR1Sep 21, 2021
VPS13A23Dec 16, 2021
VPS13B53Dec 16, 2021
VPS13D2Sep 21, 2021
VPS353Dec 16, 2021
VPS37A1Oct 15, 2021
VPS451Sep 21, 2021
VPS545Sep 21, 2021
VRK14Oct 15, 2021
VRK21Sep 21, 2021
VSIG42Sep 21, 2021
VWA3B1Sep 21, 2021
VWF16Dec 16, 2021
WARS21Sep 21, 2021
WAS3Sep 21, 2021
WASHC52Sep 21, 2021
WBP41Sep 21, 2021
WDPCP12Dec 16, 2021
WDR14Dec 16, 2021
WDR134Sep 21, 2021
WDR1921Dec 16, 2021
WDR3510Oct 15, 2021
WDR454Sep 21, 2021
WDR6222Sep 21, 2021
WDR731Sep 21, 2021
WDR813Dec 16, 2021
WFS166Dec 16, 2021
WHRN11Dec 16, 2021
WIPF12Dec 16, 2021
WNK18Dec 16, 2021
WNK31Sep 21, 2021
WNT10A4Dec 16, 2021
WRAP534Sep 21, 2021
WRN12Oct 15, 2021
WT112Oct 15, 2021
WWC31Sep 21, 2021
WWOX5Sep 21, 2021
XDH7Dec 16, 2021
XIAP2Sep 21, 2021
XIRP21Sep 21, 2021
XPC5Sep 21, 2021
XPNPEP31Oct 15, 2021
XPR12Sep 21, 2021
XRCC41Dec 16, 2021
XRCC51Sep 21, 2021
XYLT13Dec 16, 2021
YAP11Sep 21, 2021
YY21Sep 21, 2021
ZAP703Sep 21, 2021
ZBTB181Sep 21, 2021
ZBTB202Dec 16, 2021
ZBTB20-AS11Dec 16, 2021
ZBTB241Sep 21, 2021
ZCCHC121Sep 21, 2021
ZCCHC181Sep 21, 2021
ZDHHC152Sep 21, 2021
ZDHHC248Sep 21, 2021
ZDHHC91Sep 21, 2021
ZEB26Oct 15, 2021
ZFP572Dec 16, 2021
ZFPM21Sep 21, 2021
ZFPM2-AS11Sep 21, 2021
ZFYVE269Oct 15, 2021
ZFYVE271Apr 9, 2018
ZIC22Sep 21, 2021
ZIC34Sep 21, 2021
ZMYM32Sep 21, 2021
ZNF1851Sep 21, 2021
ZNF2762Sep 21, 2021
ZNF2921Sep 21, 2021
ZNF3412Oct 15, 2021
ZNF341-AS11Sep 21, 2021
ZNF4086Sep 21, 2021
ZNF415Oct 15, 2021
ZNF42310Oct 15, 2021
ZNF46932Dec 16, 2021
ZNF5132Sep 21, 2021
ZNF5361Sep 21, 2021
ZNF5924Sep 21, 2021
ZNF6301Sep 21, 2021
ZNF630-AS11Sep 21, 2021
ZNF6442Sep 21, 2021
ZNF6691Sep 21, 2021
ZNF6742Sep 21, 2021
ZNF812Sep 21, 2021
ZSWIM61Sep 21, 2021

Condition

NameSubmissionsLast Updated
46,XY sex reversal, type 66Apr 9, 2018
ALG1-CDG2Apr 9, 2018
Abetalipoproteinaemia4Apr 9, 2018
Achromatopsia 41Apr 9, 2018
Acne inversa, familial, 21Apr 9, 2018
Adams-Oliver syndrome 21Apr 9, 2018
Aicardi Goutieres syndrome 34Apr 9, 2018
Aicardi Goutieres syndrome 42Apr 9, 2018
Albinism, oculocutaneous, type VII1Apr 9, 2018
Amyotrophic lateral sclerosis type 18Apr 9, 2018
Amyotrophic lateral sclerosis type 101Apr 9, 2018
Aortic aneurysm, familial thoracic 424Apr 9, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 1119Apr 9, 2018
Arrhythmogenic right ventricular dysplasia 929Apr 9, 2018
Arterial tortuosity syndrome5Apr 9, 2018
Aspartylglucosaminuria3Apr 9, 2018
Ataxia, sensory, autosomal dominant1Apr 9, 2018
Ataxia, spastic, 4, autosomal recessive2Apr 9, 2018
Ataxia-telangiectasia syndrome13Apr 9, 2018
Ataxia-telangiectasia-like disorder 11Apr 9, 2018
Atrial septal defect 42Apr 9, 2018
Atypical hemolytic-uremic syndrome 21Apr 9, 2018
Autism 172Apr 9, 2018
Autoimmune disease, syndromic multisystem1Apr 9, 2018
Autoimmune lymphoproliferative syndrome type 12Apr 9, 2018
Autosomal recessive DOPA responsive dystonia7Apr 9, 2018
Autosomal recessive cutis laxa type 1B7Apr 9, 2018
Autosomal recessive osteopetrosis 11Apr 9, 2018
Autosomal recessive polycystic kidney disease2Apr 9, 2018
Bamforth-Lazarus syndrome3Apr 9, 2018
Bardet-Biedl syndrome 138Apr 9, 2018
Bare lymphocyte syndrome 21Apr 9, 2018
Benign familial neonatal seizures 21Apr 9, 2018
Biotin-responsive basal ganglia disease3Apr 9, 2018
Breast-ovarian cancer, familial 189Apr 9, 2018
Breast-ovarian cancer, familial 2195Apr 9, 2018
Brittle cornea syndrome 11Apr 9, 2018
C1q deficiency2Apr 9, 2018
CEDNIK syndrome2Apr 9, 2018
Cardiac arrhythmia, ankyrin B-related2Apr 9, 2018
Cardiofaciocutaneous syndrome 41Apr 9, 2018
Cerebellar ataxia, Cayman type1Apr 9, 2018
Cerebral cavernous malformation4Apr 9, 2018
Cerebral cavernous malformations 24Apr 9, 2018
Cerebral folate transport deficiency1Apr 9, 2018
Ceroid lipofuscinosis neuronal 25Apr 9, 2018
Ceroid lipofuscinosis, neuronal, 134Apr 9, 2018
Charcot-Marie-Tooth disease, recessive intermediate B2Apr 9, 2018
Charlevoix-Saguenay spastic ataxia7Apr 9, 2018
Cholestanol storage disease5Apr 9, 2018
Chylomicron retention disease1Apr 9, 2018
Chédiak-Higashi syndrome9Apr 9, 2018
Ciliary dyskinesia, primary, 105Apr 9, 2018
Ciliary dyskinesia, primary, 132Apr 9, 2018
Ciliary dyskinesia, primary, 191Apr 9, 2018
Ciliary dyskinesia, primary, 25Apr 9, 2018
Coenzyme Q10 deficiency, primary, 21Apr 9, 2018
Coenzyme Q10 deficiency, primary, 47Apr 9, 2018
Coffin-Siris syndrome 11Apr 9, 2018
Cohen syndrome14Apr 9, 2018
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Apr 9, 2018
Common variable immunodeficiency 41Apr 9, 2018
Common variable immunodeficiency 8, with autoimmunity2Apr 9, 2018
Complement component 9 deficiency1Apr 9, 2018
Cone dystrophy 43Apr 9, 2018
Cone-rod dystrophy 153Apr 9, 2018
Cone-rod dystrophy 162Apr 9, 2018
Cone-rod dystrophy 71Apr 9, 2018
Cone-rod dystrophy 91Apr 9, 2018
Congenital contractural arachnodactyly17Apr 9, 2018
Congenital defect of folate absorption1Apr 9, 2018
Congenital disorder of glycosylation type 1C1Apr 9, 2018
Congenital disorder of glycosylation, type Ia1Apr 9, 2018
Congenital hyperammonemia, type I10Apr 9, 2018
Congenital stationary night blindness, type 1B3Apr 9, 2018
Congenital stationary night blindness, type 1E6Apr 9, 2018
Congenital stationary night blindness, type 2B1Apr 9, 2018
Congenital total pulmonary venous return anomaly5Apr 9, 2018
Cornelia de Lange syndrome 11Apr 9, 2018
Cornelia de Lange syndrome 41Apr 9, 2018
Cutis laxa, autosomal recessive IIIA1Apr 9, 2018
Deafness, autosomal dominant 11Apr 9, 2018
Deafness, autosomal dominant 91Apr 9, 2018
Deafness, autosomal recessive 281Apr 9, 2018
Deafness, autosomal recessive 391Apr 9, 2018
Deafness, autosomal recessive 84b1Apr 9, 2018
Deficiency of aromatic-L-amino-acid decarboxylase1Apr 9, 2018
Deficiency of beta-ureidopropionase1Apr 9, 2018
Dentatorubral-pallidoluysian atrophy1Apr 9, 2018
Dermatofibrosarcoma protuberans2Apr 9, 2018
Dilated cardiomyopathy 1AA2Apr 9, 2018
Dilated cardiomyopathy 1JJ18Apr 9, 2018
Dilated cardiomyopathy 1KK32Apr 9, 2018
Dilated cardiomyopathy 1T3Apr 9, 2018
Dystonia 161Apr 9, 2018
Dystonia 241Apr 9, 2018
Early infantile epileptic encephalopathy 109Apr 9, 2018
Early infantile epileptic encephalopathy 121Apr 9, 2018
Efavirenz response1Apr 9, 2018
Ehlers-Danlos syndrome progeroid type1Apr 9, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant4Apr 9, 2018
Epilepsy, familial focal, with variable foci 11Apr 9, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation2Apr 9, 2018
Episodic ataxia type 11Apr 9, 2018
Familial cold autoinflammatory syndrome 22Apr 9, 2018
Familial hypertrophic cardiomyopathy 109Apr 9, 2018
Familial hypertrophic cardiomyopathy 169Apr 9, 2018
Familial hypertrophic cardiomyopathy 1716Apr 9, 2018
Familial hypertrophic cardiomyopathy 1914Apr 9, 2018
Familial hypertrophic cardiomyopathy 460Apr 9, 2018
Familial hypertrophic cardiomyopathy 84Apr 9, 2018
Familial isolated deficiency of vitamin E2Apr 9, 2018
Fanconi anemia, complementation group A2Apr 9, 2018
Fibrous dysplasia of jaw1Apr 9, 2018
Fleck retina, familial benign1Apr 9, 2018
Glaucoma 1, open angle, p1Apr 9, 2018
Glutaric aciduria, type 12Apr 9, 2018
Goldberg-Shprintzen megacolon syndrome2Apr 9, 2018
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts2Apr 9, 2018
Hepatic veno-occlusive disease-immunodeficiency syndrome1Apr 9, 2018
Hereditary coproporphyria2Apr 9, 2018
Hereditary diffuse leukoencephalopathy with spheroids9Apr 9, 2018
Hereditary nonpolyposis colorectal cancer type 418Apr 9, 2018
Hereditary nonpolyposis colorectal cancer type 520Apr 9, 2018
Hereditary spastic paraplegia 102Apr 9, 2018
Hereditary spastic paraplegia 152Apr 9, 2018
Hereditary spastic paraplegia 392Apr 9, 2018
Hereditary spastic paraplegia 74Apr 9, 2018
Hermansky-Pudlak syndrome 42Apr 9, 2018
Hermansky-Pudlak syndrome 51Apr 9, 2018
Hermansky-Pudlak syndrome 91Apr 9, 2018
Herpes simplex encephalitis 11Apr 9, 2018
Heterotaxy, visceral, 4, autosomal6Apr 9, 2018
Heterotopia, periventricular, autosomal recessive1Apr 9, 2018
Histiocytosis-lymphadenopathy plus syndrome1Apr 9, 2018
Holocarboxylase synthetase deficiency1Apr 9, 2018
Holt-Oram syndrome1Apr 9, 2018
Hydatidiform mole, recurrent, 11Apr 9, 2018
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Apr 9, 2018
Hyper-IgM syndrome type 51Apr 9, 2018
Hyperekplexia 21Apr 9, 2018
Idiopathic basal ganglia calcification 19Apr 9, 2018
Imerslund-Gräsbeck syndrome1Apr 9, 2018
Immunodeficiency 181Apr 9, 2018
Immunodeficiency 27A4Apr 9, 2018
Infantile nephronophthisis4Apr 9, 2018
Inflammatory bowel disease 28, autosomal recessive3Apr 9, 2018
Joubert syndrome 141Apr 9, 2018
Joubert syndrome 161Apr 9, 2018
Joubert syndrome 1713Apr 9, 2018
Joubert syndrome 82Apr 9, 2018
KBG syndrome1Apr 9, 2018
Knobloch syndrome 110Apr 9, 2018
Leber congenital amaurosis 91Apr 9, 2018
Left ventricular noncompaction 710Apr 9, 2018
Legius syndrome1Apr 9, 2018
Leukocyte adhesion deficiency, type III2Apr 9, 2018
Leukoencephalopathy, cystic, without megalencephaly2Apr 9, 2018
Lipase deficiency, combined1Apr 9, 2018
Loeys-Dietz syndrome 41Apr 9, 2018
Long QT syndrome 113Apr 9, 2018
Lymphoproliferative syndrome 11Apr 9, 2018
Lynch syndrome I18Apr 9, 2018
Lynch syndrome II2Apr 9, 2018
Majeed syndrome4Apr 9, 2018
Malignant tumor of esophagus1Apr 9, 2018
Maple syrup urine disease2Apr 9, 2018
Marinesco-Sjögren syndrome1Apr 9, 2018
Meckel syndrome type 85Apr 9, 2018
Meckel syndrome, type 101Apr 9, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 15Apr 9, 2018
Mental retardation, autosomal dominant 52Apr 9, 2018
Mental retardation, autosomal dominant 63Apr 9, 2018
Mental retardation, autosomal recessive 31Apr 9, 2018
Microcephalic osteodysplastic primordial dwarfism type II22Apr 9, 2018
Microcephaly and chorioretinopathy, autosomal recessive, 13Apr 9, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Apr 9, 2018
Microcephaly, postnatal progressive, with seizures and brain atrophy5Apr 9, 2018
Molybdenum cofactor deficiency, complementation group A1Apr 9, 2018
Mucolipidosis type III gamma2Apr 9, 2018
Mucopolysaccharidosis, MPS-III-A9Apr 9, 2018
Mucopolysaccharidosis, MPS-III-B5Apr 9, 2018
Mucopolysaccharidosis, MPS-III-C1Apr 9, 2018
Mucopolysaccharidosis, MPS-III-D2Apr 9, 2018
Mucopolysaccharidosis, MPS-IV-A3Apr 9, 2018
Multiple acyl-CoA dehydrogenase deficiency1Apr 9, 2018
Multiple endocrine neoplasia, type 41Apr 9, 2018
Multiple gastrointestinal atresias1Apr 9, 2018
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Apr 9, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Apr 9, 2018
Natural killer cell and glucocorticoid deficiency with DNA repair defect1Apr 9, 2018
Nephronophthisis 143Apr 9, 2018
Nephronophthisis 152Apr 9, 2018
Netherton syndrome2Apr 9, 2018
Neuroblastoma 313Apr 9, 2018
Neurodegeneration with brain iron accumulation 42Apr 9, 2018
Neuronal ceroid lipofuscinosis 106Apr 9, 2018
Neuropathy, hereditary sensory and autonomic, type VI7Apr 9, 2018
Niemann-Pick disease type C115Apr 9, 2018
Nijmegen breakage syndrome-like disorder1Apr 9, 2018
Oguchi disease 21Apr 9, 2018
Optic atrophy 71Apr 9, 2018
Pachyonychia congenita 21Apr 9, 2018
Paget disease of bone 2, early-onset4Apr 9, 2018
Parkinson disease 116Apr 9, 2018
Parkinson disease 155Apr 9, 2018
Parkinson disease 51Apr 9, 2018
Parkinsonism-dystonia, infantile, 17Apr 9, 2018
Paroxysmal nonkinesigenic dyskinesia 11Apr 9, 2018
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy2Apr 9, 2018
Persistent Mullerian duct syndrome3Apr 9, 2018
Phenylketonuria6Apr 9, 2018
Phytanic acid storage disease5Apr 9, 2018
Plasminogen deficiency, type I1Apr 9, 2018
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 14Apr 9, 2018
Polycystic liver disease 11Apr 9, 2018
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1Apr 9, 2018
Posterior column ataxia-retinitis pigmentosa syndrome6Apr 9, 2018
Primary autosomal recessive microcephaly 19Apr 9, 2018
Primary autosomal recessive microcephaly 27Apr 9, 2018
Primary autosomal recessive microcephaly 35Apr 9, 2018
Primary autosomal recessive microcephaly 511Apr 9, 2018
Progressive familial heart block type IB2Apr 9, 2018
Pyridoxine-dependent epilepsy1Apr 9, 2018
Pyruvate dehydrogenase E2 deficiency3Apr 9, 2018
Renal cell carcinoma, nonpapillary1Apr 9, 2018
Retinal cone dystrophy 44Apr 9, 2018
Retinitis pigmentosa 111Apr 9, 2018
Retinitis pigmentosa 2514Apr 9, 2018
Retinitis pigmentosa 266Apr 9, 2018
Retinitis pigmentosa 282Apr 9, 2018
Retinitis pigmentosa 303Apr 9, 2018
Retinitis pigmentosa 454Apr 9, 2018
Retinitis pigmentosa 545Apr 9, 2018
Retinitis pigmentosa 621Apr 9, 2018
Rett syndrome, congenital variant1Apr 9, 2018
SUDDEN INFANT DEATH SYNDROME1Apr 9, 2018
Saldino-Mainzer syndrome11Apr 9, 2018
Sandhoff disease1Apr 9, 2018
Schimke immuno-osseous dysplasia1Apr 9, 2018
Severe combined immunodeficiency due to ADA deficiency2Apr 9, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1Apr 9, 2018
Short-rib thoracic dysplasia 6 with or without polydactyly8Apr 9, 2018
Shwachman-Diamond syndrome 11Apr 9, 2018
Sinoatrial node dysfunction and deafness1Apr 9, 2018
Sjögren-Larsson syndrome1Apr 9, 2018
Slowed nerve conduction velocity, autosomal dominant2Apr 9, 2018
Smith-Lemli-Opitz syndrome2Apr 9, 2018
Spastic paraplegia 11, autosomal recessive4Apr 9, 2018
Spastic paraplegia 33, autosomal dominant1Apr 9, 2018
Spastic paraplegia 353Apr 9, 2018
Spastic paraplegia 47, autosomal recessive1Apr 9, 2018
Spastic paraplegia 51, autosomal recessive3Apr 9, 2018
Spinocerebellar ataxia 355Apr 9, 2018
Spinocerebellar ataxia type 13Apr 9, 2018
Spinocerebellar ataxia type 134Apr 9, 2018
Spinocerebellar ataxia type 148Apr 9, 2018
Spinocerebellar ataxia type 171Apr 9, 2018
Spinocerebellar ataxia type 232Apr 9, 2018
Spinocerebellar ataxia type 272Apr 9, 2018
Spinocerebellar ataxia type 53Apr 9, 2018
Spinocerebellar ataxia, autosomal recessive 105Apr 9, 2018
Spinocerebellar ataxia, autosomal recessive 112Apr 9, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations1Apr 9, 2018
Succinate-semialdehyde dehydrogenase deficiency1Apr 9, 2018
Sveinsson chorioretinal atrophy1Apr 9, 2018
Thyroid dyshormonogenesis 65Apr 9, 2018
Townes-Brocks syndrome 14Apr 9, 2018
Transcolabamin II deficiency1Apr 9, 2018
Unverricht-Lundborg syndrome1Apr 9, 2018
Usher syndrome, type 3B1Apr 9, 2018
Ventricular tachycardia, catecholaminergic polymorphic, 211Apr 9, 2018
Vici syndrome1Apr 9, 2018
Vitreoretinopathy, neovascular inflammatory1Apr 9, 2018
Wagner syndrome4Apr 9, 2018
Xeroderma pigmentosum variant type1Apr 9, 2018
Xeroderma pigmentosum, group G17Apr 9, 2018
not provided10513Dec 16, 2021
not specified3818Dec 16, 2021
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