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Illumina Laboratory Services (Illumina)

Summary of submissions to ClinVar

Total submissions: 209612

Gene

GeneSubmissionsLast Updated
AAAS51Feb 20, 2020
AARS181Feb 10, 2023
AARS2132Feb 20, 2020
ABAT153Feb 20, 2020
ABCA1510Nov 6, 2023
ABCA12170Feb 20, 2020
ABCA3204Feb 20, 2020
ABCA4605Apr 25, 2024
ABCB11112Mar 19, 2024
ABCB4127Mar 19, 2024
ABCB718Feb 20, 2020
ABCC2132Feb 20, 2020
ABCC8403Dec 20, 2021
ABCC9141Dec 14, 2020
ABCD173Nov 6, 2023
ABCG591Feb 20, 2020
ABCG8120Feb 20, 2020
ABHD1251Feb 20, 2020
ABHD181Feb 20, 2020
ABHD5121Feb 20, 2020
ABI14Feb 20, 2020
ABL11Dec 13, 2022
ACAD861Feb 20, 2020
ACAD967Apr 25, 2024
ACADL3Feb 1, 2019
ACADM52Aug 9, 2021
ACADS59May 23, 2024
ACADSB145Feb 20, 2020
ACADVL72Feb 20, 2020
ACAN1Aug 9, 2021
ACAT165Feb 20, 2020
ACBD514Feb 20, 2020
ACBD629Feb 20, 2020
ACE178Feb 20, 2020
ACO21Sep 19, 2023
ACOX1178Feb 20, 2020
ACSL41Oct 7, 2021
ACTA194Mar 19, 2024
ACTA288Feb 20, 2020
ACTA2-AS122Feb 20, 2020
ACTB3Dec 20, 2021
ACTC1378Feb 20, 2020
ACTG21Mar 19, 2024
ACTN2115Feb 20, 2020
ACVR150Jul 16, 2020
ACVR2B245Feb 20, 2020
ACVR2B-AS13Feb 20, 2020
ACVRL189Feb 20, 2020
ACYP11Feb 20, 2020
ADA40Feb 20, 2020
ADAM967Jun 18, 2024
ADAMTS10117Feb 20, 2020
ADAMTS13129Feb 20, 2020
ADAMTS17344Mar 19, 2024
ADAMTS2197Jul 9, 2024
ADAMTS48Feb 20, 2020
ADAMTSL2132Feb 20, 2020
ADAMTSL4133Feb 20, 2020
ADAMTSL4-AS11Oct 18, 2016
ADAMTSL4-AS265Feb 20, 2020
ADAR132Feb 20, 2020
ADGRG1111Feb 20, 2020
ADGRG328Feb 20, 2020
ADGRV1409Feb 20, 2020
ADK30Feb 20, 2020
ADNP5Feb 10, 2023
ADNP-AS116Dec 16, 2021
ADSL28Feb 20, 2020
AFG3L256Dec 20, 2021
AGA60Feb 20, 2020
AGA-DT7Feb 20, 2020
AGK145Feb 20, 2020
AGK-DT4Oct 18, 2016
AGL127Feb 20, 2020
AGMO2Oct 7, 2021
AGO22Sep 19, 2023
AGPAT279Nov 6, 2023
AGPS155Feb 20, 2020
AGT71Feb 20, 2020
AGTR155Feb 20, 2020
AGXT63Feb 20, 2020
AHCY43Feb 20, 2020
AHDC12Aug 9, 2021
AHI1119Feb 20, 2020
AICDA61Feb 20, 2020
AIFM127Feb 20, 2020
AIMP21Mar 15, 2024
AIP39Mar 19, 2024
AIPL1288Feb 20, 2020
AIRE1Feb 10, 2023
AKAP9110Feb 1, 2019
AKR1D196Feb 20, 2020
AKT314Feb 20, 2020
ALAD88Feb 20, 2020
ALAS232Mar 19, 2024
ALB54Feb 20, 2020
ALDH18A177Nov 6, 2023
ALDH3A278Feb 20, 2020
ALDH4A1114Feb 20, 2020
ALDH5A1135Feb 20, 2020
ALDH6A196Feb 20, 2020
ALDH7A1142Dec 14, 2020
ALDOA22Oct 18, 2016
ALDOB64Feb 20, 2020
ALG12Dec 16, 2021
ALG1147Feb 20, 2020
ALG1276Feb 20, 2020
ALG23Oct 18, 2016
ALG338Feb 20, 2020
ALG666Feb 20, 2020
ALG837Feb 20, 2020
ALG984Feb 20, 2020
ALK167Feb 20, 2020
ALMS156Feb 20, 2020
ALOX12B72Feb 20, 2020
ALOXE375Feb 20, 2020
ALPL71Dec 13, 2022
ALS2226Feb 20, 2020
ALX4164Feb 20, 2020
AMACR87Feb 20, 2020
AMER11Mar 19, 2024
AMMECR11Mar 19, 2024
AMPD12Oct 18, 2016
AMPD3111Feb 20, 2020
AMT49Dec 14, 2020
ANAPC1546Feb 20, 2020
ANG34Feb 20, 2020
ANGPT25Feb 20, 2020
ANK1428Jun 29, 2023
ANK2251Feb 20, 2020
ANKH445Feb 20, 2020
ANKIB116Feb 20, 2020
ANKRD156Feb 20, 2020
ANKRD114Mar 19, 2024
ANKRD171Dec 16, 2021
ANKRD26138Feb 20, 2020
ANKS1B1Oct 7, 2022
ANO1091Feb 20, 2020
ANO5336Feb 20, 2020
ANOS11Feb 10, 2023
ANTXR2146Feb 20, 2020
AOPEP99Feb 20, 2020
AP3B187Feb 20, 2020
AP3M14Feb 20, 2020
AP4M11Sep 19, 2023
AP5Z1284Feb 20, 2020
APC194Feb 20, 2020
APEX21Feb 20, 2020
APIP13Feb 20, 2020
APOA142Feb 20, 2020
APOA1-AS28Feb 20, 2020
APOA29Feb 20, 2020
APOB624Jun 30, 2023
APOB3'MAR31Feb 20, 2020
APOC223Feb 20, 2020
APOC4-APOC223Feb 20, 2020
APP79Feb 20, 2020
APRT55Feb 20, 2020
APTX74Feb 10, 2023
AQP112Oct 7, 2021
AQP2102Feb 20, 2020
AQP5-AS184Feb 20, 2020
AR2Feb 10, 2023
AREL11Feb 20, 2020
ARFGEF13Mar 15, 2024
ARFGEF1-DT24Feb 20, 2020
ARFGEF2144Feb 20, 2020
ARG120Feb 20, 2020
ARHGAP315Oct 18, 2016
ARHGEF67Oct 18, 2016
ARID1A4Jun 29, 2023
ARID1B9Jun 18, 2024
ARID21Dec 18, 2020
ARL13B2Feb 1, 2019
ARL14EP-DT25Feb 20, 2020
ARL650Feb 20, 2020
ARMCX5-GPRASP21Oct 7, 2021
ARMS243Feb 20, 2020
ARSA131Feb 20, 2020
ARSB136Feb 20, 2020
ARSL1Dec 14, 2020
ARX1Dec 14, 2020
ASAH194Dec 14, 2020
ASCC12Mar 15, 2024
ASH1L5Jun 29, 2023
ASL46Dec 16, 2021
ASPA16Apr 25, 2024
ASPM248Apr 25, 2024
ASS165Feb 20, 2020
ASTN2133Feb 20, 2020
ASXL18Mar 19, 2024
ASXL24Mar 19, 2024
ASXL33Mar 19, 2024
ATAD3A7Jun 1, 2022
ATCAY137Feb 20, 2020
ATL145Nov 6, 2023
ATM272Apr 12, 2024
ATP13A2117Jul 16, 2020
ATP1A2265Nov 15, 2023
ATP1A3146Mar 19, 2024
ATP2A168Feb 20, 2020
ATP2A1-AS11Feb 20, 2020
ATP2A287Feb 20, 2020
ATP2C170Feb 20, 2020
ATP5F1A1Sep 19, 2023
ATP6AP11Mar 19, 2024
ATP6V0A2185Feb 20, 2020
ATP6V0A489Apr 25, 2024
ATP6V1B152Feb 20, 2020
ATP6V1B1-AS13Feb 20, 2020
ATP7A1Dec 20, 2021
ATP7B199Apr 25, 2024
ATP8B1152Apr 25, 2024
ATP8B1-AS195Apr 25, 2024
ATPAF234Feb 20, 2020
ATR129Dec 14, 2020
ATRIP66Feb 20, 2020
ATRIP-TREX166Feb 20, 2020
ATRX1Dec 13, 2022
ATXN7L3-AS11Aug 9, 2021
AUH26Feb 20, 2020
AUP114Feb 20, 2020
AURKC29Feb 20, 2020
AVIL4Feb 20, 2020
AVPR241Feb 20, 2020
AXDND124Dec 14, 2020
AXIN2117Feb 20, 2020
B3GALNT214Feb 20, 2020
B3GAT32Feb 20, 2020
B3GLCT96Feb 20, 2020
B4GALT113Oct 18, 2016
B9D117Feb 20, 2020
BAAT87Feb 20, 2020
BACH21Dec 14, 2020
BAG238Feb 20, 2020
BAG3139Nov 6, 2023
BANF127Feb 20, 2020
BAP173Apr 25, 2024
BARD163Apr 25, 2024
BBOF194Feb 20, 2020
BBS174Apr 25, 2024
BBS1079Feb 20, 2020
BBS1263Apr 25, 2024
BBS273Feb 20, 2020
BBS457Feb 20, 2020
BBS756Feb 20, 2020
BBS993Apr 1, 2020
BCHE54Feb 10, 2023
BCKDHA67Apr 25, 2024
BCKDHB74Feb 20, 2020
BCL11A2Aug 9, 2021
BCL11B1Dec 20, 2021
BCOR2Aug 9, 2021
BCORL11Feb 10, 2023
BCS1L70Apr 25, 2024
BEST1216Feb 20, 2020
BFSP238Feb 20, 2020
BFSP2-AS121Feb 20, 2020
BGN1Mar 19, 2024
BICD21Nov 15, 2023
BIN184Feb 20, 2020
BIVM-ERCC5114Feb 20, 2020
BLK99Feb 20, 2020
BLM75Apr 25, 2024
BLOC1S1-RDH528Feb 20, 2020
BLOC1S32Oct 18, 2016
BLOC1S63Oct 18, 2016
BMP1134Feb 20, 2020
BMP1519Feb 20, 2020
BMP4112Feb 20, 2020
BMPER113Feb 20, 2020
BMPR1A64Feb 20, 2020
BMPR1B122Feb 20, 2020
BMPR2196Feb 20, 2020
BNAT17Feb 20, 2020
BOLA312Feb 20, 2020
BORCS86Feb 20, 2020
BORCS8-MEF2B6Feb 20, 2020
BPNT2172Feb 20, 2020
BPTF1Dec 14, 2020
BRAF96Dec 16, 2021
BRAT12Sep 19, 2023
BRCA1147Nov 6, 2023
BRCA2457Apr 12, 2024
BRIP1179Apr 25, 2024
BRPF11Dec 14, 2020
BRWD3105Mar 19, 2024
BSCL276Feb 20, 2020
BSND41Feb 20, 2020
BTD27Apr 25, 2024
BTK40Dec 16, 2021
C10orf10577Feb 20, 2020
C10orf5564Feb 20, 2020
C11orf65136Aug 9, 2021
C12orf4325Feb 20, 2020
C12orf572Dec 20, 2021
C14orf3932Feb 20, 2020
C17orf10735Feb 20, 2020
C19orf12140Apr 1, 2020
C1QTNF3-AMACR87Feb 20, 2020
C1QTNF5271Feb 20, 2020
C1orf16711Oct 18, 2016
C2209Feb 20, 2020
C2-AS122Feb 20, 2020
C2orf8851Feb 20, 2020
C3381Jul 11, 2024
C3orf804Feb 20, 2020
C4orf462Oct 18, 2016
C9orf7286Feb 20, 2020
CA230Feb 20, 2020
CA3-AS17Feb 20, 2020
CA430Feb 20, 2020
CABP4123Feb 20, 2020
CACNA1A10Mar 19, 2024
CACNA1B1Aug 9, 2021
CACNA1C26Sep 19, 2023
CACNA1C-AS12Oct 18, 2016
CACNA1D1Dec 14, 2020
CACNA1E2Feb 10, 2023
CACNA1I1Feb 10, 2023
CACNA1S238Feb 10, 2023
CACNA2D4173Feb 20, 2020
CACNB220Oct 18, 2016
CACNB4250Feb 20, 2020
CAD2Dec 14, 2020
CADM31Apr 12, 2024
CADM3-AS11Apr 12, 2024
CAMK2B1Dec 20, 2021
CAMK2G1Apr 1, 2020
CAMK41Oct 7, 2021
CAMTA12Nov 15, 2023
CANT1102Feb 20, 2020
CAPN3138Jul 14, 2023
CARD141Feb 1, 2019
CARD966Feb 20, 2020
CASD120Aug 9, 2021
CASK2Dec 20, 2021
CASP10121Feb 20, 2020
CASP857Feb 20, 2020
CASQ2147Feb 20, 2020
CASR250Jun 29, 2023
CAST137Feb 20, 2020
CATIP-AS266Feb 20, 2020
CATSPER171Feb 20, 2020
CAV3109Dec 20, 2021
CAVIN163Feb 20, 2020
CBARP4Feb 20, 2020
CBL263Mar 19, 2024
CBLIF31Feb 20, 2020
CBR455Feb 20, 2020
CBS88Apr 25, 2024
CC2D2A266Feb 20, 2020
CCBE1216Feb 20, 2020
CCDC10345Feb 20, 2020
CCDC126Feb 20, 2020
CCDC14014Feb 20, 2020
CCDC321Sep 19, 2023
CCDC333Oct 18, 2016
CCDC39116Feb 20, 2020
CCDC40177May 23, 2024
CCDST7Nov 6, 2023
CCN620Feb 20, 2020
CCNF1Feb 20, 2020
CCNH91Dec 16, 2021
CCT5100Feb 20, 2020
CD1944Feb 20, 2020
CD2AP131Feb 20, 2020
CD2AP-DT10Feb 20, 2020
CD3693Feb 20, 2020
CD3D17Feb 20, 2020
CD3E33Feb 20, 2020
CD3G32Apr 25, 2024
CD4036Feb 20, 2020
CD4661Feb 20, 2020
CD6313Feb 20, 2020
CD741Oct 18, 2016
CD9611Feb 1, 2019
CDAN1146Feb 20, 2020
CDC637Feb 20, 2020
CDC73315Feb 20, 2020
CDCA7L25Feb 20, 2020
CDH1110Feb 20, 2020
CDH231055Dec 16, 2021
CDH23-AS130Feb 20, 2020
CDH3112Feb 20, 2020
CDH3-AS127Feb 20, 2020
CDHR1169Feb 20, 2020
CDK132Sep 19, 2023
CDK440Feb 20, 2020
CDK5RAP2118Feb 20, 2020
CDKN1B72Feb 20, 2020
CDKN1C2Mar 19, 2024
CDKN2A2Mar 19, 2024
CDON256Jun 1, 2022
CENPJ237Feb 20, 2020
CENPL4Feb 20, 2020
CEP12815Feb 20, 2020
CEP152211May 23, 2024
CEP290714Feb 20, 2020
CEP41139Feb 20, 2020
CEP85L40Nov 6, 2023
CERKL87Feb 20, 2020
CETP54Feb 20, 2020
CFAP11910Oct 18, 2016
CFAP1261Oct 18, 2016
CFAP418118Feb 20, 2020
CFAP418-AS113Feb 20, 2020
CFAP9217Feb 20, 2020
CFB187Feb 20, 2020
CFH332Feb 20, 2020
CFHR575Feb 20, 2020
CFI59Feb 20, 2020
CFL242Feb 20, 2020
CFTR169May 23, 2024
CFTR-AS122May 23, 2024
CGREF143Feb 20, 2020
CHD34Feb 10, 2023
CHD7254Mar 19, 2024
CHD83Dec 14, 2020
CHEK249Mar 19, 2024
CHIT190Feb 20, 2020
CHKB42Feb 20, 2020
CHKB-CPT1B42Feb 20, 2020
CHMP2B79Feb 20, 2020
CHN151Feb 20, 2020
CHPT197Feb 20, 2020
CHRNA198Feb 20, 2020
CHRNA2116Dec 14, 2020
CHRNB163Feb 20, 2020
CHRNB266Feb 20, 2020
CHRND164Feb 20, 2020
CHRNE111Dec 16, 2021
CHRNG180Feb 20, 2020
CHROMR25Feb 20, 2020
CHST3635Feb 20, 2020
CHST6193Feb 20, 2020
CIAO31Mar 19, 2024
CIAPIN15Feb 20, 2020
CIC3Feb 10, 2023
CIITA146Feb 20, 2020
CIMIP311Feb 20, 2020
CLASP13Oct 7, 2021
CLCC117Feb 20, 2020
CLCN185Dec 20, 2021
CLCN31Jun 1, 2022
CLCN41Dec 20, 2021
CLCN5108Feb 20, 2020
CLCN7152Feb 20, 2020
CLDN1454Feb 20, 2020
CLDN14-AS154Feb 20, 2020
CLDN1677Feb 20, 2020
CLDN1967Feb 20, 2020
CLN390Feb 20, 2020
CLN582Feb 20, 2020
CLN684Feb 10, 2023
CLRN160Feb 20, 2020
CLRN1-AS111Feb 20, 2020
CLTC2Dec 16, 2021
CMYA52Oct 7, 2021
CNGA153Feb 20, 2020
CNGA392Dec 14, 2020
CNGB1210Feb 20, 2020
CNGB3220Feb 20, 2020
CNNM259Dec 14, 2020
CNNM485Feb 20, 2020
CNOT31Jul 14, 2023
CNTNAP12Jun 1, 2022
CNTNAP2396Feb 20, 2020
CNTNAP51Oct 7, 2021
COCH46Feb 20, 2020
COG169Feb 20, 2020
COG5121Feb 20, 2020
COG686Feb 20, 2020
COG762Feb 20, 2020
COG844Feb 20, 2020
COL10A185Feb 20, 2020
COL11A1364May 23, 2024
COL11A2543Feb 20, 2020
COL17A1168Feb 20, 2020
COL18A1206Feb 20, 2020
COL1A1472Dec 16, 2021
COL1A2244Aug 9, 2021
COL1A2-AS112Feb 20, 2020
COL2A1257Mar 19, 2024
COL3A1116Feb 20, 2020
COL4A1477Apr 12, 2024
COL4A2227Jun 1, 2022
COL4A2-AS127Feb 20, 2020
COL4A2-AS214Feb 20, 2020
COL4A3192Feb 20, 2020
COL4A4255Dec 13, 2022
COL4A53Nov 15, 2023
COL5A1283Sep 19, 2023
COL5A2202Feb 20, 2020
COL6A1201Jun 29, 2023
COL6A2367Jul 16, 2020
COL6A3330May 28, 2024
COL7A1250Feb 20, 2020
COL9A19Feb 1, 2019
COL9A293Feb 20, 2020
COL9A35Feb 1, 2019
COLQ81Feb 20, 2020
COMETT8Feb 20, 2020
COMP128Dec 14, 2020
COPB24Feb 20, 2020
COQ23Feb 1, 2019
COQ72Sep 19, 2023
COQ7-DT1Jun 29, 2023
COQ8A148Feb 20, 2020
COQ941Feb 20, 2020
COX10170Feb 20, 2020
COX10-DT2Oct 18, 2016
COX15124Feb 20, 2020
COX201Sep 19, 2023
COX4I21Oct 18, 2016
COX6B19Feb 20, 2020
CP162Feb 20, 2020
CPA655Feb 20, 2020
CPLANE1215Aug 9, 2021
CPLANE1-AS14Feb 20, 2020
CPO92Feb 20, 2020
CPOX80Feb 20, 2020
CPS1128Apr 1, 2020
CPT261Feb 20, 2020
CRB1221Feb 20, 2020
CREBBP6Jun 1, 2022
CRPPA214Feb 20, 2020
CRPPA-AS111Feb 20, 2020
CRTAP185Jun 11, 2024
CRX411Feb 20, 2020
CRYAA29Feb 20, 2020
CRYAB45Feb 20, 2020
CRYBA428Feb 20, 2020
CRYBB128Feb 20, 2020
CRYBB341Feb 20, 2020
CRYGD26Feb 20, 2020
CSF1R132Dec 16, 2021
CSNK2A12Jun 29, 2023
CSNK2B2Jun 11, 2024
CSRP344Feb 20, 2020
CSRP3-AS118Feb 20, 2020
CSTB27Feb 20, 2020
CTBP11Mar 19, 2024
CTBP1-AS1Mar 19, 2024
CTC1229Feb 20, 2020
CTCF4Mar 15, 2024
CTF13Oct 18, 2016
CTH54Feb 20, 2020
CTNNB15Mar 19, 2024
CTNND21Jun 18, 2024
CTNS321Feb 20, 2020
CTNS-AS133Feb 20, 2020
CTRC35Feb 20, 2020
CTSA47Feb 20, 2020
CTSC97Dec 14, 2020
CTSD73Feb 20, 2020
CTSK19Feb 20, 2020
CTXN2-AS120Feb 20, 2020
CUBN345Feb 20, 2020
CUL3183Mar 15, 2024
CUL4B3Nov 15, 2023
CUL7129Feb 20, 2020
CUTC13Feb 20, 2020
CYB561A37Oct 18, 2016
CYB5R31Dec 14, 2020
CYCS13Oct 18, 2016
CYFIP21Jul 16, 2020
CYGB56Feb 20, 2020
CYLD345Feb 20, 2020
CYLD-AS161Feb 20, 2020
CYLD-AS2291Feb 20, 2020
CYP11A131Feb 20, 2020
CYP11B1238Feb 20, 2020
CYP11B2276Feb 20, 2020
CYP17A130Jun 11, 2024
CYP17A1-AS13Feb 20, 2020
CYP19A190Feb 20, 2020
CYP1B1251Feb 20, 2020
CYP21A21Dec 14, 2020
CYP24A199Feb 20, 2020
CYP27A159Feb 20, 2020
CYP27B138Feb 20, 2020
CYP4F2266Feb 20, 2020
CYP4V2290Feb 20, 2020
CYP7B146Feb 20, 2020
CZIB3Oct 18, 2016
D2HGDH118Feb 20, 2020
DAAM223Feb 20, 2020
DARS244Feb 20, 2020
DBH129Feb 20, 2020
DBH-AS115Feb 20, 2020
DBNL26Feb 20, 2020
DBT170Feb 20, 2020
DCAF17119Feb 20, 2020
DCLRE1C102Feb 20, 2020
DCN41Feb 20, 2020
DCTN1169Feb 20, 2020
DCX1Jul 14, 2023
DDB237Feb 20, 2020
DDC55Feb 20, 2020
DDC-AS18Feb 20, 2020
DDOST59Feb 20, 2020
DDR256Mar 19, 2024
DDX3X7Mar 19, 2024
DDX412Mar 19, 2024
DEGS14Mar 19, 2024
DENND1174Feb 20, 2020
DENND4A19Feb 20, 2020
DEPDC52Mar 19, 2024
DES170Apr 12, 2024
DES-LCR11Feb 20, 2020
DGUOK33Feb 20, 2020
DGUOK-AS16Feb 20, 2020
DHCR2492Feb 20, 2020
DHCR7103Jun 29, 2023
DHDDS67Jun 29, 2023
DHH30Feb 20, 2020
DHODH76Feb 20, 2020
DHPS2Mar 19, 2024
DHTKD12Dec 16, 2021
DHX91Nov 6, 2023
DIAPH1119Feb 20, 2020
DIAPH31Dec 14, 2020
DICER1176Mar 19, 2024
DIPK1A15Feb 20, 2020
DIS3L299Feb 20, 2020
DISP11Mar 19, 2024
DKC12Mar 19, 2024
DLAT1Feb 1, 2019
DLD223Feb 20, 2020
DLG49Nov 15, 2023
DLL3133Feb 20, 2020
DLST1Nov 15, 2023
DLX369Feb 20, 2020
DMD217Dec 7, 2023
DMP166Feb 20, 2020
DNAAF193Feb 20, 2020
DNAAF1136Feb 20, 2020
DNAAF285Feb 20, 2020
DNAAF3118Feb 20, 2020
DNAAF3-AS171Feb 20, 2020
DNAH11320Mar 19, 2024
DNAH5434Feb 20, 2020
DNAI159Feb 20, 2020
DNAI280Feb 20, 2020
DNAJB6104Feb 20, 2020
DNAJC193Oct 18, 2016
DNAJC5257Feb 20, 2020
DNAJC9-AS19Oct 18, 2016
DNAL129Oct 18, 2016
DNASE1L111Feb 20, 2020
DNM12Feb 10, 2023
DNM1L81Feb 20, 2020
DNM2190Feb 20, 2020
DNMT1107Feb 20, 2020
DNMT3A2Jun 29, 2023
DNMT3B114Feb 20, 2020
DOCK8204Feb 20, 2020
DOCK8-AS19Feb 20, 2020
DOHH2Mar 15, 2024
DOLK43Feb 20, 2020
DONSON2Jun 29, 2023
DPAGT150Nov 15, 2023
DPF21Dec 16, 2021
DPM125Dec 16, 2021
DPM232Feb 20, 2020
DPM32Feb 20, 2020
DPYD98Feb 20, 2020
DPYD-AS112Feb 20, 2020
DPYS47Feb 20, 2020
DRD323Feb 20, 2020
DSC2121Feb 20, 2020
DSCAS18Feb 20, 2020
DSG1-AS1100Feb 20, 2020
DSG2190Jun 29, 2023
DSG2-AS1114Feb 20, 2020
DSG4100Feb 20, 2020
DSP618Nov 6, 2023
DSP-AS157Feb 20, 2020
DST97Aug 9, 2021
DTNA5Oct 18, 2016
DTNBP17Feb 1, 2019
DUOX2212Feb 20, 2020
DUS4L16Feb 20, 2020
DUS4L-BCAP2916Feb 20, 2020
DUSP294Oct 18, 2016
DYM83Feb 20, 2020
DYM-AS110Oct 18, 2016
DYNC1H1374Mar 15, 2024
DYNC2H1420Feb 20, 2020
DYNC2LI156Feb 20, 2020
DYRK1A6Mar 19, 2024
DYSF432Apr 12, 2024
EARS286Feb 20, 2020
EBF31Jun 29, 2023
EBP1Dec 14, 2020
ECEL11Jun 29, 2023
EDAR155Feb 20, 2020
EDARADD112Feb 20, 2020
EDN379Feb 20, 2020
EDNRB80Feb 20, 2020
EDNRB-AS160Feb 20, 2020
EFCAB13-DT51Feb 20, 2020
EFEMP160Feb 20, 2020
EFEMP241Feb 20, 2020
EFHC174Feb 1, 2019
EFNB11Dec 13, 2022
EFTUD23Mar 19, 2024
EGF126Feb 20, 2020
EGFR1Oct 18, 2016
EGILA18Feb 20, 2020
EGLN1156Feb 20, 2020
EGR232Feb 20, 2020
EHMT15Oct 18, 2016
EIF1AD5Feb 20, 2020
EIF2AK11Mar 15, 2024
EIF2AK22Feb 10, 2023
EIF2AK373Feb 20, 2020
EIF2B148Feb 20, 2020
EIF2B247Feb 20, 2020
EIF2B344Feb 20, 2020
EIF2B446Feb 10, 2023
EIF2B547Nov 15, 2023
EIF2B5-DT7Oct 18, 2016
EIF3J4Feb 20, 2020
ELN213Sep 19, 2023
ELN-AS118Feb 20, 2020
ELOVL471Feb 20, 2020
ELP1155Feb 20, 2020
ELP21Nov 6, 2023
ELP4588Feb 20, 2020
EMC45Feb 20, 2020
EMD2Apr 12, 2024
EME21Sep 19, 2023
EML310Feb 20, 2020
ENAM101Feb 20, 2020
ENG113Mar 19, 2024
ENO331Feb 20, 2020
ENPP1385Feb 20, 2020
ENTPD739Feb 20, 2020
EP30031Mar 19, 2024
EPAS1150Feb 20, 2020
EPB4253Feb 20, 2020
EPCAM3Oct 18, 2016
EPHA2109Feb 20, 2020
EPHA2-AS12Feb 20, 2020
EPM2A2Feb 10, 2023
EPM2A-DT1Feb 10, 2023
EPOR54Feb 20, 2020
ERCC12Feb 1, 2019
ERCC2102Jun 11, 2024
ERCC359Feb 20, 2020
ERCC4162Feb 20, 2020
ERCC5114Feb 20, 2020
ERCC6572Feb 20, 2020
ERCC864Feb 20, 2020
ERCC8-AS15Feb 20, 2020
ESCO273Feb 20, 2020
ESR150Feb 20, 2020
ESR214Feb 20, 2020
ESRRB70Feb 20, 2020
ETFA30Feb 20, 2020
ETFDH44Feb 20, 2020
ETHE131Feb 20, 2020
EVC279Feb 20, 2020
EVC2152Feb 20, 2020
EXOSC342Mar 19, 2024
EXT157Feb 20, 2020
EXT293Feb 20, 2020
EYA1221Feb 20, 2020
EYA4197Feb 20, 2020
EYS229Jun 11, 2024
EZH27Mar 19, 2024
F1059Feb 20, 2020
F10-AS15Feb 20, 2020
F1185Jun 11, 2024
F11-AS142Feb 20, 2020
F12126Feb 20, 2020
F13A173Feb 20, 2020
F13B44Feb 20, 2020
F277Feb 10, 2023
F5905Feb 20, 2020
F7103Feb 20, 2020
F867Dec 14, 2020
F934Feb 20, 2020
FA2H67Feb 20, 2020
FAAH21Oct 7, 2021
FAH76Apr 12, 2024
FAM161A80Feb 20, 2020
FAM187A11Feb 20, 2020
FAM20A125Aug 9, 2021
FAM219B6Feb 20, 2020
FANCA202Dec 16, 2021
FANCB90Feb 20, 2020
FANCC116Feb 20, 2020
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RNASEH2B43Jun 29, 2023
RNASEH2B-AS113Jun 29, 2023
RNASEH2C69Feb 20, 2020
RNASET245Apr 1, 2020
RNF113A1Dec 13, 2022
RNF1796Feb 20, 2020
RNU4ATAC2Apr 1, 2020
RNU7-12Dec 20, 2021
ROBO2161Feb 20, 2020
ROBO3114Feb 20, 2020
ROGDI57Dec 14, 2020
ROM148Feb 20, 2020
ROR2239Feb 20, 2020
RP1114Apr 1, 2020
RP1L1423Feb 20, 2020
RP244Feb 20, 2020
RP915Feb 20, 2020
RPAP21Feb 20, 2020
RPE65137Dec 14, 2020
RPGRIP1172Feb 20, 2020
RPGRIP1L392Feb 20, 2020
RPIA32Feb 20, 2020
RPL1113Feb 20, 2020
RPL35A10Feb 20, 2020
RPL36A-HNRNPH221Feb 10, 2023
RPL3L1Mar 15, 2024
RPL533Feb 20, 2020
RPL612Feb 20, 2020
RPS1025Feb 20, 2020
RPS10-NUDT324Feb 20, 2020
RPS1928Feb 20, 2020
RPS2431Feb 20, 2020
RPS2619Feb 20, 2020
RPS6KA31Apr 12, 2024
RPS717Feb 20, 2020
RRAS21Feb 10, 2023
RRH3Feb 20, 2020
RRM2B175Mar 19, 2024
RSPH4A57Feb 20, 2020
RSPH920Feb 20, 2020
RTEL11Feb 10, 2023
RTEL1-TNFRSF6B1Feb 10, 2023
RTN220Feb 20, 2020
RTTN1Oct 18, 2016
RUNX1145Feb 20, 2020
RUNX1-AS13Feb 20, 2020
RUNX2100Feb 20, 2020
RUSF125Feb 20, 2020
RYR11688Jun 18, 2024
RYR2648Feb 20, 2020
S100PBP25Feb 20, 2020
SACS286Nov 6, 2023
SAG98Feb 20, 2020
SALL112Mar 19, 2024
SALL41Oct 18, 2016
SAMHD198Jun 29, 2023
SARM1104Feb 20, 2020
SARS259Feb 20, 2020
SATB24Mar 19, 2024
SBDS3Dec 20, 2021
SBF2139Feb 20, 2020
SBF2-AS159Feb 20, 2020
SC5D128Feb 20, 2020
SCAMP51Nov 6, 2023
SCN1A274Nov 6, 2023
SCN1A-AS1739Dec 14, 2020
SCN1B83Aug 9, 2021
SCN2A165Dec 14, 2020
SCN3A4Dec 20, 2021
SCN3B8Oct 18, 2016
SCN4A1025Feb 10, 2023
SCN4B88Oct 18, 2016
SCN5A1420Sep 19, 2023
SCN8A13Aug 9, 2021
SCN9A840Dec 14, 2020
SCNN1A176Feb 20, 2020
SCNN1B190Dec 14, 2020
SCNN1G136Feb 20, 2020
SCO1125Feb 20, 2020
SCO2121Feb 20, 2020
SDCCAG8103Feb 20, 2020
SDHA217Dec 14, 2022
SDHAF116Feb 20, 2020
SDHAF230Feb 20, 2020
SDHB61Feb 20, 2020
SDHC93Feb 20, 2020
SDHD35Feb 20, 2020
SEC23B70Feb 20, 2020
SEC63179Feb 20, 2020
SECISBP21Sep 19, 2023
SELENON111Feb 20, 2020
SEMA4A156Feb 20, 2020
SEMA6B2Feb 10, 2023
SEPSECS82Feb 20, 2020
SEPTIN9130Feb 20, 2020
SERPINA199Feb 20, 2020
SERPINC124Feb 20, 2020
SERPINE173Feb 20, 2020
SERPINF146Feb 20, 2020
SERPING141Feb 20, 2020
SERPINH163Feb 20, 2020
SERPINI138Feb 20, 2020
SETBP117Jun 29, 2023
SETD1A2Mar 19, 2024
SETD1B2Apr 12, 2024
SETD51Aug 9, 2021
SETX398Apr 1, 2020
SF3B41Oct 18, 2016
SFTA365Dec 13, 2022
SFTPB66Feb 20, 2020
SFTPC122Feb 20, 2020
SGCA44Jun 29, 2023
SGCB140Feb 20, 2020
SGCD364Feb 20, 2020
SGCE26Feb 10, 2023
SGCG87Feb 20, 2020
SGSH95Nov 6, 2023
SH2D1A31Feb 20, 2020
SH3BP2183Feb 20, 2020
SH3PXD2B200Feb 20, 2020
SH3TC21195Feb 20, 2020
SHANK252Feb 10, 2023
SHANK34Mar 19, 2024
SHH2Mar 19, 2024
SHLD27Feb 20, 2020
SHOC260Feb 20, 2020
SI154Feb 20, 2020
SIL148Feb 20, 2020
SIM172Feb 20, 2020
SIM1-AS114Feb 20, 2020
SIN3A1Dec 16, 2021
SIX1104Feb 20, 2020
SIX32Feb 10, 2023
SIX632Feb 20, 2020
SKIC291Feb 20, 2020
SKIC32Feb 10, 2023
SLA12Feb 20, 2020
SLC11A287Feb 20, 2020
SLC12A196Feb 20, 2020
SLC12A3190Dec 20, 2021
SLC12A5-AS116Feb 20, 2020
SLC12A6176Jun 1, 2022
SLC16A179Feb 20, 2020
SLC16A22Mar 19, 2024
SLC17A5117Feb 20, 2020
SLC17A888Feb 20, 2020
SLC19A177Feb 20, 2020
SLC19A2106Feb 20, 2020
SLC19A3115Feb 20, 2020
SLC1A1116Feb 20, 2020
SLC1A386Feb 20, 2020
SLC20A284Feb 20, 2020
SLC22A1284Feb 20, 2020
SLC22A589Dec 14, 2020
SLC24A1107Feb 20, 2020
SLC25A123Oct 18, 2016
SLC25A13112Feb 20, 2020
SLC25A15101Feb 20, 2020
SLC25A1931Feb 20, 2020
SLC25A2037Feb 20, 2020
SLC25A214Feb 20, 2020
SLC25A22100Feb 20, 2020
SLC25A333Feb 20, 2020
SLC25A3889Apr 12, 2024
SLC25A477Feb 20, 2020
SLC26A123Jun 29, 2023
SLC26A112Feb 20, 2020
SLC26A2765Feb 20, 2020
SLC26A365Feb 20, 2020
SLC26A4250Feb 20, 2020
SLC26A4-AS120Feb 20, 2020
SLC26A51Oct 18, 2016
SLC26A5-AS156Feb 20, 2020
SLC29A367Feb 20, 2020
SLC2A1193Mar 19, 2024
SLC2A1-DT8Oct 18, 2016
SLC2A10119Feb 20, 2020
SLC2A274Feb 20, 2020
SLC2A965Feb 20, 2020
SLC2A9-AS15Feb 20, 2020
SLC30A1044Feb 20, 2020
SLC33A15Dec 20, 2021
SLC34A1179Feb 20, 2020
SLC35A121Feb 20, 2020
SLC35C176Feb 20, 2020
SLC35D2-HSD17B328Feb 20, 2020
SLC37A448Feb 20, 2020
SLC39A483Feb 20, 2020
SLC3A187Feb 20, 2020
SLC40A154Feb 20, 2020
SLC45A264Mar 19, 2024
SLC46A1129Feb 20, 2020
SLC4A1391Feb 20, 2020
SLC4A1197Feb 20, 2020
SLC4A4143Feb 20, 2020
SLC4A81Oct 7, 2021
SLC5A1113Feb 20, 2020
SLC5A262Feb 20, 2020
SLC5A596Feb 20, 2020
SLC5A64Nov 15, 2023
SLC6A13Nov 15, 2023
SLC6A1-AS12Feb 10, 2023
SLC6A172Mar 19, 2024
SLC6A29Oct 18, 2016
SLC6A20160Feb 20, 2020
SLC6A4113Feb 20, 2020
SLC6A570Feb 20, 2020
SLC6A82Sep 19, 2023
SLC7A761Feb 20, 2020
SLC7A963Feb 20, 2020
SLCO1B184Feb 20, 2020
SLCO1B398Feb 20, 2020
SLCO1B3-SLCO1B791Feb 20, 2020
SLITRK1100Feb 20, 2020
SLURP116Feb 20, 2020
SLX4238Feb 20, 2020
SMAD22Dec 13, 2022
SMAD3279Feb 20, 2020
SMAD4634Feb 10, 2023
SMAD929Oct 18, 2016
SMARCA2125Nov 15, 2023
SMARCA499Mar 19, 2024
SMARCAL158Feb 20, 2020
SMARCB175Feb 20, 2020
SMARCC22Dec 16, 2021
SMC1A100Aug 9, 2021
SMC369Apr 12, 2024
SMC46Oct 18, 2016
SMCHD11Dec 14, 2020
SMIM1917Feb 20, 2020
SMIM276Feb 20, 2020
SMIM3525Feb 20, 2020
SMN11Jul 16, 2020
SMPD171Sep 19, 2023
SMPX8Feb 20, 2020
SNAI232Feb 20, 2020
SNAP29147Feb 20, 2020
SNAPC58Oct 18, 2016
SNCA97Feb 20, 2020
SNCA-AS111Feb 20, 2020
SNCAIP72Feb 20, 2020
SNHG1427Oct 18, 2016
SNHG22190Feb 20, 2020
SNHG3160Feb 20, 2020
SNHG46Feb 20, 2020
SNIP11Mar 15, 2024
SNORA661Oct 18, 2016
SNORD1185Nov 15, 2023
SNRNP200100Feb 20, 2020
SNRPN27Oct 18, 2016
SNTA193Feb 20, 2020
SNURF17Oct 18, 2016
SNX143Jun 29, 2023
SNX1716Feb 20, 2020
SNX2217Feb 20, 2020
SOD124Dec 14, 2020
SOD1-DT13Feb 20, 2020
SON1Apr 1, 2020
SOS1303Feb 10, 2023
SOS24Sep 19, 2023
SOST42Feb 20, 2020
SOX1080Feb 20, 2020
SOX151Feb 20, 2020
SOX21Mar 19, 2024
SOX2-OT1Mar 19, 2024
SOX41Apr 1, 2020
SOX51Jun 18, 2024
SOX63Mar 19, 2024
SOX912Jul 16, 2020
SP11066Feb 20, 2020
SP14031Feb 20, 2020
SP72Oct 18, 2016
SPAG87Feb 20, 2020
SPART85Feb 20, 2020
SPART-AS13Oct 18, 2016
SPAST109Jun 1, 2022
SPATA1652Feb 20, 2020
SPATA22124Apr 25, 2024
SPATA251Oct 18, 2016
SPATA6L108Feb 20, 2020
SPATA7101Feb 20, 2020
SPECC1L2Jun 1, 2022
SPECC1L-ADORA2A2Jun 1, 2022
SPEN1Mar 19, 2024
SPG11161Apr 1, 2020
SPG2131Feb 20, 2020
SPG790Feb 20, 2020
SPINK124Feb 20, 2020
SPINK5104Dec 14, 2020
SPINT22Mar 19, 2024
SPR32Feb 20, 2020
SPRED1135Feb 20, 2020
SPTA1813Aug 9, 2021
SPTAN14Jun 1, 2022
SPTB257Aug 9, 2021
SPTBN11Mar 19, 2024
SPTBN2125Sep 19, 2023
SPTBN42Apr 1, 2020
SPTLC145Feb 20, 2020
SPTLC2168Feb 20, 2020
SQSTM190Aug 9, 2021
SRCAP7Jun 29, 2023
SRD5A11Oct 18, 2016
SRD5A244Feb 20, 2020
SRD5A390Feb 10, 2023
SRD5A3-AS176Feb 20, 2020
SRP7271Feb 20, 2020
SSUH212Feb 20, 2020
ST3GAL559Mar 19, 2024
STAG21Mar 19, 2024
STAR61Feb 20, 2020
STAT195Dec 14, 2020
STAT376Feb 20, 2020
STAT5B2Dec 16, 2021
STEEP11Mar 19, 2024
STIL81Feb 20, 2020
STK11121Feb 20, 2020
STON1-GTF2A1L158Feb 20, 2020
STRA681Feb 20, 2020
STX11132Feb 20, 2020
STX16126Feb 20, 2020
STX16-NPEPL1126Feb 20, 2020
STXBP14Dec 16, 2021
STXBP257Feb 20, 2020
SUCLA258Feb 20, 2020
SUCLG168Feb 20, 2020
SUFU94Dec 14, 2020
SUMF185Feb 20, 2020
SUMO115Feb 20, 2020
SUOX49Dec 14, 2020
SUPT3H6Feb 20, 2020
SURF133Mar 19, 2024
SYCE29Feb 20, 2020
SYCP317Feb 20, 2020
SYN3119Feb 20, 2020
SYNDIG1L3Feb 20, 2020
SYNE11142Mar 19, 2024
SYNE1-AS12Feb 20, 2020
SYNE2512Feb 20, 2020
SYP1Mar 19, 2024
SYP-AS11Mar 19, 2024
SYT11Dec 14, 2020
SZT22Mar 19, 2024
TAB22Dec 13, 2022
TACO120Feb 20, 2020
TACR340Feb 20, 2020
TACR3-AS122Feb 20, 2020
TACSTD246Feb 20, 2020
TAF15Nov 15, 2023
TAF1C5Feb 20, 2020
TAFAZZIN74Feb 20, 2020
TALDO137Feb 20, 2020
TANC24Mar 19, 2024
TAOK11Jul 16, 2020
TARDBP120Feb 20, 2020
TARID135Feb 20, 2020
TAT56Feb 20, 2020
TAT-AS143Feb 20, 2020
TAX1BP320Feb 20, 2020
TBC1D231Oct 7, 2021
TBC1D24191Feb 20, 2020
TBC1D322Mar 15, 2024
TBCD4Feb 10, 2023
TBCE59Feb 20, 2020
TBCEL-TECTA303Feb 20, 2020
TBL1XR12Nov 6, 2023
TBL1XR1-AS11Nov 6, 2023
TBX1973Feb 20, 2020
TBX21Oct 7, 2021
TBX2231Feb 20, 2020
TBX3117Feb 20, 2020
TBX3-AS145Feb 20, 2020
TBX467Feb 20, 2020
TBX5102Dec 14, 2020
TBX5-AS19Feb 20, 2020
TCAP38Feb 20, 2020
TCF201Dec 13, 2022
TCF4172Aug 9, 2021
TCF4-AS13Feb 20, 2020
TCFL52Oct 18, 2016
TCIRG1103Feb 20, 2020
TCN282Feb 20, 2020
TCOF14Oct 18, 2016
TCTN136Feb 20, 2020
TCTN2171Feb 20, 2020
TDP189Feb 20, 2020
TDRD772Feb 20, 2020
TECTA303Feb 20, 2020
TEK98Feb 20, 2020
TEN13Oct 18, 2016
TEN1-CDK33Oct 18, 2016
TERT214Feb 20, 2020
TET38Mar 19, 2024
TF59Feb 20, 2020
TFAP2A1Jul 16, 2020
TFAP2B21Sep 19, 2023
TFPT4Oct 18, 2016
TFR284Feb 20, 2020
TG263Feb 20, 2020
TGFB2129Feb 20, 2020
TGFB2-AS17Feb 20, 2020
TGFB2-OT132Feb 20, 2020
TGFB310Dec 14, 2020
TGFBI81Feb 20, 2020
TGFBR1366Feb 20, 2020
TGFBR2294Feb 20, 2020
TGIF121Feb 20, 2020
TGM179Feb 20, 2020
TGM560Feb 20, 2020
TGM680Feb 20, 2020
TH106Feb 20, 2020
THAP146Feb 20, 2020
THBD80Feb 20, 2020
THOC21May 28, 2024
THPO33Feb 20, 2020
THRB179Feb 20, 2020
THRB-AS16Feb 20, 2020
TICRR1Oct 18, 2016
TIGD183Feb 20, 2020
TIMMDC11Apr 1, 2020
TIMP3119Feb 20, 2020
TINF280Feb 20, 2020
TIPIN2Oct 18, 2016
TJP26Oct 18, 2016
TK298Jul 16, 2020
TLDC238Feb 20, 2020
TLK24Nov 15, 2023
TM2D21Feb 20, 2020
TMC1119Dec 16, 2021
TMCO11Dec 14, 2020
TMCO613Feb 20, 2020
TMEM1075Nov 15, 2023
TMEM120A3Feb 20, 2020
TMEM126A21Feb 20, 2020
TMEM127107Feb 20, 2020
TMEM13838Feb 20, 2020
TMEM16525Feb 20, 2020
TMEM2139Feb 20, 2020
TMEM21676Feb 20, 2020
TMEM237109Feb 20, 2020
TMEM27251Feb 20, 2020
TMEM4366Feb 20, 2020
TMEM67196Feb 20, 2020
TMEM7065Feb 20, 2020
TMIE39Feb 20, 2020
TMPO1Oct 18, 2016
TMPO-AS11Oct 18, 2016
TMPPE17Feb 20, 2020
TMPRSS393Feb 20, 2020
TMPRSS699Feb 20, 2020
TNFRSF11A202Feb 20, 2020
TNFRSF11B56Mar 19, 2024
TNFRSF13B22Oct 18, 2016
TNFRSF13C26Feb 20, 2020
TNFRSF1A62Mar 19, 2024
TNFRSF255Feb 20, 2020
TNFSF1160Feb 20, 2020
TNNC122Feb 20, 2020
TNNI230Feb 20, 2020
TNNI3238Nov 6, 2023
TNNT145Feb 20, 2020
TNNT2116Feb 20, 2020
TNNT356Feb 20, 2020
TNRC6B1Dec 20, 2021
TNS22Oct 7, 2021
TNS2-AS11Oct 7, 2021
TNXB4Dec 14, 2020
TOE15Feb 20, 2020
TOMT37Feb 20, 2020
TOP2B1Dec 16, 2021
TOPORS77Feb 20, 2020
TOR1A50Mar 19, 2024
TP5380Jun 29, 2023
TP63307Dec 14, 2020
TPH242Feb 20, 2020
TPI141Feb 20, 2020
TPM166Feb 20, 2020
TPM257Nov 6, 2023
TPM3286Feb 20, 2020
TPMT6Oct 18, 2016
TPO112Feb 20, 2020
TPP183Mar 19, 2024
TPRX23Feb 20, 2020
TRAF72Dec 13, 2022
TRAPPC262Feb 20, 2020
TRAPPC2L10Feb 20, 2020
TRAPPC6B1Dec 14, 2020
TRAPPC982Feb 20, 2020
TRB1Oct 18, 2016
TRDN6Oct 18, 2016
TREM223Feb 20, 2020
TREX166Feb 20, 2020
TRI-AAT4-111Feb 20, 2020
TRIM32133Feb 20, 2020
TRIM3788Feb 20, 2020
TRIM59-IFT8097Feb 20, 2020
TRIM81Nov 6, 2023
TRIO6Dec 20, 2021
TRIP11177Feb 20, 2020
TRMT10A1Feb 10, 2023
TRMT10B16Feb 20, 2020
TRMU73Feb 20, 2020
TRPC695Feb 20, 2020
TRPM1144Feb 20, 2020
TRPM4117Feb 20, 2020
TRPM6147Feb 20, 2020
TRPS122Dec 16, 2021
TRPV3210Feb 20, 2020
TRPV4640Dec 20, 2021
TRRAP3Dec 20, 2021
TRS-AGA2-69Feb 20, 2020
TRT-AGT1-27Feb 20, 2020
TSC1534Mar 19, 2024
TSC2246Nov 6, 2023
TSEN278Feb 20, 2020
TSEN3462Feb 20, 2020
TSEN5466Mar 19, 2024
TSFM45Feb 20, 2020
TSHB6Feb 20, 2020
TSHR184Feb 20, 2020
TSHZ118Mar 19, 2024
TSPAN160Feb 20, 2020
TSPAN1239Feb 20, 2020
TSPAN3126Feb 20, 2020
TTBK282Feb 20, 2020
TTC1462Feb 20, 2020
TTC1997Jun 29, 2023
TTC21B262Feb 20, 2020
TTC21B-AS112Feb 20, 2020
TTC36-AS11Mar 19, 2024
TTC7A2Sep 19, 2023
TTC883Feb 20, 2020
TTN9150Apr 12, 2024
TTN-AS15338Apr 12, 2024
TTPA59Feb 20, 2020
TTR29Jun 29, 2023
TUBB1Dec 14, 2020
TUBB11Dec 16, 2021
TUBB2A2Mar 19, 2024
TUBB2B3Mar 19, 2024
TUBB32Dec 14, 2020
TUBB4A83Mar 19, 2024
TUBB612Feb 20, 2020
TUBGCP62Nov 6, 2023
TUFM57Feb 20, 2020
TULP188Feb 20, 2020
TUSC3119Feb 20, 2020
TWIST11Jun 29, 2023
TWNK306Nov 6, 2023
TYK2125Feb 20, 2020
TYMP141Feb 20, 2020
TYR40Mar 19, 2024
TYROBP19Feb 20, 2020
TYRP177Feb 20, 2020
UBA135Feb 20, 2020
UBE3B2Mar 19, 2024
UBIAD186Feb 20, 2020
UBQLN235Feb 20, 2020
UBR12Dec 20, 2021
UBTF1Aug 9, 2021
UCHL133Feb 20, 2020
UCK12Feb 20, 2020
UGT1A128Feb 20, 2020
UGT1A1128Feb 20, 2020
UGT1A10128Feb 20, 2020
UGT1A3128Feb 20, 2020
UGT1A4128Feb 20, 2020
UGT1A5128Feb 20, 2020
UGT1A6128Feb 20, 2020
UGT1A7128Feb 20, 2020
UGT1A8128Feb 20, 2020
UGT1A9128Feb 20, 2020
UMOD52Feb 20, 2020
UMPS183Feb 20, 2020
UNC11938Feb 20, 2020
UNC13D135Feb 20, 2020
UNC803Nov 6, 2023
UNG58Feb 20, 2020
UNKL5Feb 20, 2020
UPB161Feb 20, 2020
UPK3A38Feb 20, 2020
UQCRQ48Feb 20, 2020
URB113Feb 20, 2020
UROD30Feb 20, 2020
UROS31Feb 20, 2020
USH1C83Feb 20, 2020
USH1G74Feb 20, 2020
USH2A293Mar 19, 2024
USH2A-AS157Feb 20, 2020
USH2A-AS21Oct 18, 2016
USP73Oct 7, 2021
USP9X4Nov 15, 2023
UTP14C27Feb 20, 2020
UTP438Feb 20, 2020
VANGL1435Feb 20, 2020
VAPB350Feb 20, 2020
VARS12Aug 9, 2021
VCAN609Feb 20, 2020
VCAN-AS1297Feb 20, 2020
VCF15Feb 20, 2020
VCL109Feb 20, 2020
VCP136Apr 1, 2020
VDR137Feb 20, 2020
VHL192Feb 20, 2020
VKORC126Feb 20, 2020
VLDLR155Feb 20, 2020
VLDLR-AS140Feb 20, 2020
VPS13A225Feb 20, 2020
VPS13A-AS19Feb 20, 2020
VPS13B292Mar 19, 2024
VPS13D4Dec 16, 2021
VPS33B59Feb 20, 2020
VPS3562Feb 20, 2020
VRK126Feb 20, 2020
VRK222Jun 11, 2024
VSX169Feb 20, 2020
VSX2163Feb 20, 2020
VWF141Jun 29, 2023
WAC1Dec 14, 2020
WASHC577Feb 20, 2020
WASHC5-AS14Feb 20, 2020
WBP2NL38Feb 20, 2020
WDPCP72Feb 20, 2020
WDR111Mar 19, 2024
WDR19185Feb 20, 2020
WDR262Mar 19, 2024
WDR35342Feb 20, 2020
WDR35-DT33Feb 20, 2020
WDR3613Oct 18, 2016
WDR4142Feb 20, 2020
WDR453Mar 19, 2024
WDR62130Mar 19, 2024
WDR72204Feb 20, 2020
WFS1422Nov 15, 2023
WHRN257Feb 20, 2020
WNK1245Feb 20, 2020
WNK498Feb 20, 2020
WNT10A212Feb 10, 2023
WNT5A17Dec 14, 2020
WRAP5360Feb 20, 2020
WRN142Aug 9, 2021
WT1368Feb 20, 2020
WWOX4Feb 10, 2023
XDH181Feb 20, 2020
XIAP113Feb 20, 2020
XPA33Sep 19, 2023
XPC149Apr 12, 2024
XPNPEP3165Feb 20, 2020
XPR11Aug 9, 2021
YARS166Feb 10, 2023
YARS2131Feb 20, 2020
YME1L13Oct 18, 2016
YWHAG2Nov 6, 2023
YWHAZ1Jun 29, 2023
ZAP7053Feb 20, 2020
ZBTB182Dec 16, 2021
ZC4H22Dec 16, 2021
ZDHHC2456Jun 29, 2023
ZEB222Mar 19, 2024
ZFP5728Feb 20, 2020
ZFYVE26231Feb 20, 2020
ZFYVE2773Feb 20, 2020
ZIC368Feb 20, 2020
ZMIZ11Feb 10, 2023
ZMPSTE24101Feb 20, 2020
ZNF27661Feb 20, 2020
ZNF412Oct 18, 2016
ZNF4621Mar 19, 2024
ZNF469252Feb 20, 2020
ZNF51373Feb 20, 2020
ZNF6091Oct 7, 2021
ZNF6742Oct 18, 2016
ZNF71149Feb 20, 2020
ZNF814Oct 18, 2016
ZNF8271Oct 7, 2021
ZRANB346Feb 20, 2020
ZSWIM78Oct 18, 2016

Condition

NameSubmissionsLast Updated
11p partial monosomy syndrome120Feb 20, 2020
2-aminoadipic 2-oxoadipic aciduria2Dec 16, 2021
3 beta-Hydroxysteroid dehydrogenase deficiency33Feb 20, 2020
3-M syndrome8Oct 18, 2016
3-Methylglutaconic aciduria type 221Feb 20, 2020
3-Methylglutaconic aciduria type 3216Feb 20, 2020
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency44Feb 20, 2020
3-hydroxy-3-methylglutaryl-CoA synthase deficiency46Feb 20, 2020
3-methylcrotonyl-CoA carboxylase 1 deficiency39Feb 20, 2020
3-methylcrotonyl-CoA carboxylase 2 deficiency75Feb 20, 2020
3-methylglutaconic aciduria type 126Feb 20, 2020
3-methylglutaconic aciduria type 53Oct 18, 2016
3M syndrome 1126Feb 20, 2020
3M syndrome 2204Feb 20, 2020
46,XY DSD/46,XY CGD1Oct 18, 2016
46,XY sex reversal 729Feb 20, 2020
4p partial monosomy syndrome6Oct 18, 2016
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency16Feb 20, 2020
ABCA1-related disorder3Feb 1, 2019
ABCA1-related dyslipidemia1Nov 6, 2023
ABCA4-related disorder209Apr 25, 2024
ABCB4-Related Intrahepatic Cholestasis1Mar 19, 2024
ABCC9-related disorder2Feb 20, 2020
ABL1-related congenital heart defects and skeletal malformations syndrome1Dec 13, 2022
ACTA1-related myopathies1Dec 14, 2020
ACTA2-related disorder1Feb 1, 2019
ACTB-related disorder2Dec 14, 2020
ADAR-related disorder1Feb 1, 2019
ADCK3-related disorder2Feb 1, 2019
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3Dec 20, 2021
AGK-related disorder1Feb 1, 2019
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Aug 9, 2021
AIPL1-related disorder3Feb 1, 2019
ALDH18A1 deficiency3Dec 20, 2021
ALDH18A1-related de Barsy syndrome65Feb 20, 2020
ALG1-congenital disorder of glycosylation2Dec 16, 2021
ALG11-congenital disorder of glycosylation42Feb 20, 2020
ALG12-congenital disorder of glycosylation71Feb 20, 2020
ALG3-congenital disorder of glycosylation37Feb 20, 2020
ALG6-congenital disorder of glycosylation 1C61Feb 20, 2020
ALG8 congenital disorder of glycosylation34Feb 20, 2020
ALG9 congenital disorder of glycosylation63Feb 20, 2020
ALS2-related disorder114Feb 20, 2020
ANKH-related disorder1Feb 1, 2019
ANO5-Related Muscle Diseases135Feb 20, 2020
ANO5-related disorder7Feb 1, 2019
APC-Associated Polyposis Disorders194Feb 20, 2020
APOB-related disorder4Feb 1, 2019
ARID1B-related disorder2Dec 20, 2021
ASAH1-related disorders1Dec 14, 2020
ASH1L-related neurodevelopmental disorders4Dec 20, 2021
ATM-related cancer predisposition1Dec 13, 2022
ATM-related cancer predisposition syndrome1Jun 29, 2023
ATM-related disorder3Aug 9, 2021
ATP13A2-related disorder2Jul 16, 2020
ATP1A2-associated neurological disorder1Nov 15, 2023
ATP1A3-associated neurological disorder3Mar 19, 2024
Abetalipoproteinaemia100Feb 20, 2020
Achondrogenesis15Oct 18, 2016
Achondrogenesis, type IA171Feb 20, 2020
Achondrogenesis, type IB143Feb 20, 2020
Achondroplasia1Dec 20, 2021
Achromatopsia88Feb 20, 2020
Achromatopsia 288Dec 14, 2020
Achromatopsia 3103Feb 20, 2020
Achromatopsia 426Feb 20, 2020
Acral peeling skin syndrome59Feb 20, 2020
Acrocallosal syndrome134Feb 20, 2020
Acrocephalosyndactyly type I6Oct 18, 2016
Acrodysostosis43Oct 18, 2016
Acrodysostosis 1 with or without hormone resistance66Aug 9, 2021
Acrodysostosis 2 with or without hormone resistance132Dec 14, 2020
Acroerythrokeratoderma16Feb 20, 2020
Acromesomelic dysplasia2Oct 18, 2016
Acromesomelic dysplasia 1, Maroteaux type44Feb 20, 2020
Acromesomelic dysplasia 2B40Feb 20, 2020
Acromesomelic dysplasia 2C, Hunter-Thompson type39Feb 20, 2020
Acromicric dysplasia237Feb 20, 2020
Actin accumulation myopathy25Feb 20, 2020
Activated PI3K-delta syndrome1Dec 16, 2021
Acute Recurrent Myoglobinuria8Oct 18, 2016
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins73Feb 20, 2020
Acute intermittent porphyria44Feb 20, 2020
Acyl-CoA dehydrogenase 9 deficiency67Apr 25, 2024
Acyl-CoA oxidase deficiency178Feb 20, 2020
Adams-Oliver syndrome5Oct 18, 2016
Adenine phosphoribosyltransferase deficiency31Feb 20, 2020
Adenosine kinase deficiency30Feb 20, 2020
Adenylosuccinate lyase deficiency28Feb 20, 2020
Adrenoleukodystrophy73Nov 6, 2023
Adult i blood group with or without congenital cataract7Oct 18, 2016
Adult polyglucosan body disease67Feb 20, 2020
Adult-onset autosomal dominant demyelinating leukodystrophy43Feb 20, 2020
Adult-onset foveomacular vitelliform dystrophy76Feb 20, 2020
Adult-onset proximal spinal muscular atrophy, autosomal dominant154Feb 20, 2020
Age related macular degeneration 1389Feb 20, 2020
Age related macular degeneration 1454Feb 20, 2020
Age related macular degeneration 482Feb 20, 2020
Age related macular degeneration 5151Feb 20, 2020
Age related macular degeneration 667Feb 20, 2020
Age related macular degeneration 821Feb 20, 2020
Age related macular degeneration 9121Feb 20, 2020
Age-related cortical cataract4Oct 18, 2016
Agenesis of the corpus callosum with peripheral neuropathy169Jun 1, 2022
Aicardi Goutieres syndrome21Oct 18, 2016
Aicardi-Goutieres syndrome 119Feb 20, 2020
Aicardi-Goutieres syndrome 241Jun 29, 2023
Aicardi-Goutieres syndrome 365Feb 20, 2020
Aicardi-Goutieres syndrome 435Feb 20, 2020
Aicardi-Goutieres syndrome 550Jun 29, 2023
Aicardi-Goutieres syndrome 72Jun 1, 2022
Aicardi-Goutieres syndrome 92Dec 20, 2021
Alagille syndrome due to a JAG1 point mutation4Apr 12, 2024
Alagille syndrome due to a NOTCH2 point mutation1Dec 14, 2020
Alexander disease8Apr 12, 2024
Alkaptonuria58Feb 20, 2020
Allan-Herndon-Dudley syndrome2Mar 19, 2024
Alopecia universalis2Oct 18, 2016
Alopecia universalis congenita161Feb 20, 2020
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome1Dec 13, 2022
Alpha-1-antitrypsin deficiency99Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 161Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 262Feb 20, 2020
Alpha-actinopathy2Nov 15, 2023
Alpha-methylacyl-CoA racemase deficiency78Feb 20, 2020
Alport syndrome441Aug 9, 2021
Alstrom syndrome56Feb 20, 2020
Alternating hemiplegia of childhood11Oct 18, 2016
Alternating hemiplegia of childhood 1122Feb 20, 2020
Alternating hemiplegia of childhood 269Feb 20, 2020
Alveolar capillary dysplasia with pulmonary venous misalignment11Oct 18, 2016
Alzheimer disease72Feb 20, 2020
Alzheimer disease 3119Feb 20, 2020
Alzheimer disease 460Feb 20, 2020
Amelocerebrohypohidrotic syndrome57Dec 14, 2020
Amelogenesis Imperfecta, Dominant9Oct 18, 2016
Amelogenesis Imperfecta, Recessive81Oct 18, 2016
Amelogenesis imperfecta97Feb 20, 2020
Amelogenesis imperfecta hypomaturation type 2A256Feb 20, 2020
Amelogenesis imperfecta hypomaturation type 2A3128Feb 20, 2020
Amish lethal microcephaly31Feb 20, 2020
Amyloidosis10Oct 18, 2016
Amyotrophic Lateral Sclerosis, Dominant76Oct 18, 2016
Amyotrophic Lateral Sclerosis, Recessive12Oct 18, 2016
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia20Oct 18, 2016
Amyotrophic lateral sclerosis type 123Dec 14, 2020
Amyotrophic lateral sclerosis type 1065Feb 20, 2020
Amyotrophic lateral sclerosis type 1157Feb 20, 2020
Amyotrophic lateral sclerosis type 1261Feb 20, 2020
Amyotrophic lateral sclerosis type 1522Feb 20, 2020
Amyotrophic lateral sclerosis type 2, juvenile105Feb 20, 2020
Amyotrophic lateral sclerosis type 2193Feb 20, 2020
Amyotrophic lateral sclerosis type 4192Feb 20, 2020
Amyotrophic lateral sclerosis type 6137Aug 9, 2021
Amyotrophic lateral sclerosis type 8