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Laboratory for Molecular Medicine (Mass General Brigham Personalized Medicine)

General information

Laboratory for Molecular Medicine
Mass General Brigham Personalized Medicine
65 Landsdowne Street
Cambridge
Massachusetts
United States - 02139-4232
https://www.massgeneralbrigham.org/en/research-and-innovation/centers-and-programs/personalized-medicine/molecular-medicine
Organization ID: 21766

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 26143

Gene

GeneSubmissionsLast Updated
A2M1Apr 3, 2017
AAAS1Mar 21, 2019
AARS21Mar 21, 2019
ABCA12Apr 19, 2024
ABCA101Apr 3, 2017
ABCA131Apr 3, 2017
ABCA333Jun 3, 2020
ABCA418Apr 19, 2024
ABCB111Apr 3, 2017
ABCB42Apr 3, 2017
ABCC22May 14, 2020
ABCC66Apr 19, 2024
ABCC81Apr 3, 2017
ABCC9101May 27, 2021
ABCG52May 27, 2021
ABCG81Mar 21, 2019
ABHD14A-ACY11Apr 19, 2024
ACACB1Apr 3, 2017
ACADM6Apr 19, 2024
ACADS2Apr 19, 2024
ACADSB2Apr 19, 2024
ACADVL7Apr 19, 2024
ACAN1Apr 3, 2017
ACBD61Mar 6, 2015
ACE1Aug 18, 2015
ACKR11Mar 21, 2019
ACOX11Aug 18, 2015
ACP53Apr 3, 2017
ACR2Apr 3, 2017
ACSF31Apr 19, 2024
ACTA16Mar 21, 2019
ACTA28Apr 19, 2024
ACTA2-AS12May 27, 2021
ACTB1May 14, 2020
ACTC146May 27, 2021
ACTG174May 14, 2020
ACTN2117Apr 19, 2024
ACTR3C1Apr 3, 2017
ACVR2B3Apr 3, 2017
ACVRL111Apr 19, 2024
ACY11Apr 19, 2024
ADA7Mar 21, 2019
ADA25Apr 19, 2024
ADAM331Apr 3, 2017
ADAMTS134May 27, 2021
ADAMTSL43Apr 19, 2024
ADAMTSL4-AS23Apr 19, 2024
ADAR1Mar 21, 2019
ADCY121Jun 3, 2020
ADCY101Apr 3, 2017
ADCY31Apr 19, 2024
ADGRG11Mar 6, 2015
ADGRV1498Apr 19, 2024
ADH1C1Apr 3, 2017
ADSL2Mar 21, 2019
AGA2Apr 3, 2017
AGGF11Apr 3, 2017
AGL4Apr 19, 2024
AGPS1May 27, 2021
AGRN1Mar 21, 2019
AGTR11May 27, 2021
AGXT2Mar 21, 2019
AGXT21Apr 3, 2017
AHCY1Apr 19, 2024
AHDC11Apr 3, 2017
AHI11May 27, 2021
AHNAK25Apr 3, 2017
AICDA3Apr 3, 2017
AIP2Mar 21, 2019
AIPL12Apr 19, 2024
AIRE2Apr 19, 2024
AK11Apr 3, 2017
AK22Mar 21, 2019
AK54Apr 3, 2017
AK74Apr 3, 2017
AKAP93Apr 3, 2017
ALAD1Mar 21, 2019
ALB1Mar 21, 2019
ALDH3A21Mar 21, 2019
ALDH5A11Mar 21, 2019
ALDH7A11Apr 19, 2024
ALDOB3Apr 19, 2024
ALG12May 27, 2021
ALG31Apr 19, 2024
ALK7Apr 3, 2017
ALMS1137Apr 19, 2024
ALOX12B2Apr 3, 2017
ALOXE31Mar 21, 2019
ALPK37May 14, 2020
ALPL4Apr 19, 2024
ALS2CL1Apr 3, 2017
AMACR1Apr 19, 2024
AMER11Mar 21, 2019
AMH1Apr 3, 2017
AMHR21May 27, 2021
AMPD11Apr 19, 2024
AMT1Aug 18, 2015
ANAPC11Apr 3, 2017
ANAPC158Mar 21, 2019
ANK11Apr 3, 2017
ANK22Mar 21, 2019
ANKLE12Apr 3, 2017
ANKRD128Jun 3, 2020
ANKRD113Apr 19, 2024
ANKRD491Apr 3, 2017
ANO101Mar 21, 2019
ANO58Apr 19, 2024
ANTXR11Mar 21, 2019
AOPEP2Mar 21, 2019
AP1S31Apr 3, 2017
AP2S11Mar 21, 2019
AP3B119Mar 21, 2019
AP4M11Apr 19, 2024
AP5Z11Apr 3, 2017
APC99Apr 19, 2024
APOB53Apr 19, 2024
APOE2Mar 21, 2019
APOL16May 27, 2021
APP1Jun 3, 2020
APTX7May 14, 2020
AQP22Apr 19, 2024
AQP5-AS11Mar 21, 2019
AQP76Apr 3, 2017
AR1Apr 3, 2017
AREL11Apr 19, 2024
ARFGEF11Apr 19, 2024
ARHGAP312Apr 3, 2017
ARHGAP42Apr 3, 2017
ARHGAP61Apr 3, 2017
ARID1B2May 14, 2020
ARIH11Apr 3, 2017
ARL13B1May 27, 2021
ARL17B1Apr 3, 2017
ARL2BP1Apr 3, 2017
ARMC52Apr 19, 2024
ARSA1May 27, 2021
ARSB1Mar 6, 2015
ARSL1Mar 6, 2015
ASAH16Mar 21, 2019
ASB102Apr 3, 2017
ASCL19Mar 21, 2019
ASL2Apr 19, 2024
ASNS2Apr 19, 2024
ASPA4Apr 19, 2024
ASPM2Mar 21, 2019
ASS13Apr 19, 2024
ASTN22Mar 21, 2019
ASXL11May 27, 2021
ASXL32Apr 19, 2024
ATF62May 14, 2020
ATG9B2Apr 3, 2017
ATM17Apr 19, 2024
ATP13A51Apr 3, 2017
ATP1A31Mar 21, 2019
ATP2A11Mar 21, 2019
ATP2A22Apr 3, 2017
ATP2A31Apr 3, 2017
ATP6V0A42Mar 21, 2019
ATP6V1B145May 27, 2021
ATP6V1B1-AS12Mar 21, 2019
ATP7A2Apr 19, 2024
ATP7B88Apr 19, 2024
ATP8B11Apr 3, 2017
ATR4Apr 3, 2017
ATRIP2Apr 3, 2017
ATRIP-TREX12Apr 3, 2017
ATXN31Apr 3, 2017
ATXN71Apr 3, 2017
ATXN7L3-AS11May 14, 2020
AURKC3May 27, 2021
AVPR22Mar 21, 2019
AXDND11Aug 18, 2015
AXIN11Apr 3, 2017
AXIN23Apr 3, 2017
B3GALT61Mar 21, 2019
B3GNT44May 14, 2020
B4GALNT11Apr 19, 2024
B9D11Apr 19, 2024
BAAT1Apr 3, 2017
BAG365Apr 19, 2024
BAIAP2L12Apr 3, 2017
BARD13Apr 3, 2017
BBS13Mar 21, 2019
BBS103Mar 21, 2019
BBS21Aug 18, 2015
BCAN1Apr 3, 2017
BCAN-AS11Apr 3, 2017
BCAN-AS21Apr 3, 2017
BCHE2Apr 19, 2024
BCKDHA1Mar 21, 2019
BCKDHB1Apr 19, 2024
BCL102Apr 3, 2017
BCL9L7Apr 3, 2017
BCLAF16Apr 3, 2017
BCS1L10May 27, 2021
BDNF5Apr 19, 2024
BDNF-AS3Apr 19, 2024
BDNF-AS13Apr 19, 2024
BEST12Mar 21, 2019
BICC11Apr 19, 2024
BICD12Apr 3, 2017
BICRA1Apr 3, 2017
BIN17Mar 21, 2019
BIVM-ERCC53Apr 19, 2024
BLK1Apr 3, 2017
BLM7Apr 19, 2024
BLNK2Apr 3, 2017
BLOC1S1-RDH51Aug 18, 2015
BLOC1S36Mar 21, 2019
BMP14Mar 21, 2019
BMPER1Apr 3, 2017
BMPR1A5Apr 19, 2024
BMPR25May 27, 2021
BNC21Apr 3, 2017
BOLA21Apr 3, 2017
BPI5Apr 3, 2017
BRAF107May 14, 2020
BRAT11Apr 19, 2024
BRCA1170Apr 19, 2024
BRCA2301Apr 19, 2024
BRI32Apr 3, 2017
BRIP112Apr 19, 2024
BRME11Mar 21, 2019
BSND35Apr 19, 2024
BTBD71Apr 3, 2017
BTD8Apr 19, 2024
BTK4Apr 19, 2024
BUB1B2Apr 3, 2017
C10orf10555Apr 19, 2024
C11orf656Apr 19, 2024
C12orf603Apr 3, 2017
C17orf1073Mar 21, 2019
C19orf122Apr 19, 2024
C1QTNF3-AMACR1Apr 19, 2024
C1S3Apr 3, 2017
C27Apr 19, 2024
C2-AS13Apr 19, 2024
C21orf581Apr 3, 2017
C2CD31Apr 19, 2024
C2orf4923Mar 21, 2019
C4B1Apr 3, 2017
C4BPA2Apr 3, 2017
C4BPB4Apr 3, 2017
C510Apr 19, 2024
C66Apr 19, 2024
C6orf892May 14, 2020
C8A5Apr 3, 2017
C8B2Mar 21, 2019
C93Apr 19, 2024
CABP211Apr 19, 2024
CACNA1A3Mar 21, 2019
CACNA1C4Mar 21, 2019
CACNA1C-AS13Apr 3, 2017
CACNA1D94Apr 19, 2024
CACNA1F2Apr 3, 2017
CACNA1S10Apr 19, 2024
CACNA2D42Mar 21, 2019
CACNB211Apr 3, 2017
CAPN11Mar 21, 2019
CAPN35Mar 21, 2019
CARD114Apr 3, 2017
CARD148Mar 21, 2019
CARD94Apr 3, 2017
CARMIL21Mar 21, 2019
CASP102Apr 3, 2017
CASP122Apr 3, 2017
CASP84Apr 3, 2017
CASQ250May 27, 2021
CASR2Mar 21, 2019
CAST1Apr 3, 2017
CATSPER24Mar 21, 2019
CAV324Mar 21, 2019
CAVIN419Apr 19, 2024
CBL56Apr 19, 2024
CBLIF2Apr 19, 2024
CBS21Apr 19, 2024
CC2D1A1Mar 21, 2019
CC2D2A1Apr 19, 2024
CCBE11Apr 3, 2017
CCDC1151May 27, 2021
CCDC1401Mar 21, 2019
CCDC3921May 14, 2020
CCDC4044Apr 19, 2024
CCDC5036Jun 3, 2020
CCDC656Mar 21, 2019
CCDC661Apr 3, 2017
CCDC85C3Apr 3, 2017
CCDST7Mar 21, 2019
CCN61Mar 21, 2019
CCNF1Jun 3, 2020
CCNK3Apr 3, 2017
CCNO2May 14, 2020
CCP1106Apr 3, 2017
CD1644Apr 19, 2024
CD192Apr 3, 2017
CD2071Apr 3, 2017
CD272Apr 3, 2017
CD27-AS12Apr 3, 2017
CD2AP1Apr 3, 2017
CD362Apr 19, 2024
CD3E1Apr 3, 2017
CD3G2Apr 3, 2017
CD401Apr 3, 2017
CD461Mar 21, 2019
CD79B1Apr 3, 2017
CD8A3Apr 3, 2017
CDAN11Mar 21, 2019
CDC14A22Apr 19, 2024
CDCA7L3Mar 21, 2019
CDH14Apr 3, 2017
CDH23546Apr 19, 2024
CDH23-AS115Mar 21, 2019
CDHR12Apr 19, 2024
CDKL51Apr 19, 2024
CDKN1B1Apr 3, 2017
CDKN1C1Apr 3, 2017
CDKN2A3Apr 3, 2017
CDT11Mar 21, 2019
CDYL1Apr 3, 2017
CEACAM1640Apr 19, 2024
CEACAM16-AS140Apr 19, 2024
CELA12Apr 3, 2017
CEMIP22Mar 21, 2019
CEP1521Mar 21, 2019
CEP1641Apr 3, 2017
CEP2902Apr 19, 2024
CEP7824Apr 19, 2024
CEP85L13Mar 21, 2019
CERKL1Apr 19, 2024
CERS13Apr 3, 2017
CFAP2512Apr 3, 2017
CFB3Apr 3, 2017
CFD1Apr 3, 2017
CFH1Apr 19, 2024
CFHR52Mar 21, 2019
CFI1Apr 3, 2017
CFP1Apr 3, 2017
CFTR64Apr 19, 2024
CFTR-AS118Apr 19, 2024
CHAT7Mar 21, 2019
CHD768May 27, 2021
CHEK22May 27, 2021
CHI3L21Apr 3, 2017
CHPT11Mar 21, 2019
CHRM210Mar 21, 2019
CHRNA11Mar 21, 2019
CHRNE4Mar 21, 2019
CHST31Apr 19, 2024
CHST61Mar 21, 2019
CIB212May 27, 2021
CIITA12Mar 21, 2019
CITED21May 14, 2020
CKAP2L1Mar 21, 2019
CLCC15Mar 21, 2019
CLCN11Mar 21, 2019
CLCN31May 14, 2020
CLCNKB14Mar 21, 2019
CLDN1421Mar 21, 2019
CLDN14-AS121Mar 21, 2019
CLDN163Mar 21, 2019
CLEC4D1Apr 3, 2017
CLEC7A2Apr 3, 2017
CLIC522Jun 3, 2020
CLNK2Apr 3, 2017
CLPP17May 27, 2021
CLPS1Apr 3, 2017
CLPTM1L1Apr 3, 2017
CLRN119Mar 21, 2019
CLRN1-AS12Mar 21, 2019
CLTCL11Apr 3, 2017
CNGA11Mar 21, 2019
CNGA34Mar 21, 2019
CNGB11Apr 19, 2024
CNGB32Apr 19, 2024
CNOT11Apr 3, 2017
CNTN61Apr 3, 2017
CNTNAP3B1Apr 3, 2017
COCH29Apr 19, 2024
COG41Aug 18, 2015
COG51Apr 3, 2017
COG65Apr 3, 2017
COL11A11Apr 3, 2017
COL11A2156Apr 19, 2024
COL17A12Mar 21, 2019
COL18A14May 27, 2021
COL1A21Apr 3, 2017
COL2A13Mar 21, 2019
COL3A132Apr 19, 2024
COL4A356May 27, 2021
COL4A467Apr 19, 2024
COL4A524Apr 19, 2024
COL5A12Apr 19, 2024
COL5A21Apr 3, 2017
COL6A11Apr 3, 2017
COL6A24Apr 19, 2024
COL6A31Apr 3, 2017
COL6A51Apr 3, 2017
COL7A15Apr 19, 2024
COL9A11Apr 19, 2024
COL9A31Apr 3, 2017
COLEC112Apr 3, 2017
COLQ1Mar 21, 2019
COQ21Apr 3, 2017
COQ8A2May 14, 2020
CORO1A1Apr 3, 2017
CP3Apr 19, 2024
CPAP2Mar 21, 2019
CPLANE12May 27, 2021
CPN11Apr 3, 2017
CPT1A1Mar 21, 2019
CPT22Apr 19, 2024
CR26Apr 3, 2017
CRB12Mar 21, 2019
CREB3L11Apr 3, 2017
CRPPA4Mar 21, 2019
CRTAP1Aug 18, 2015
CRYAB15Mar 21, 2019
CRYGC1Apr 3, 2017
CRYM12Mar 21, 2019
CSF2RA16Apr 19, 2024
CSF2RB19Mar 21, 2019
CSF3R2Apr 3, 2017
CSPG41Apr 3, 2017
CSPP12Apr 3, 2017
CSRP338Jun 3, 2020
CSRP3-AS13Apr 26, 2016
CST31Apr 3, 2017
CTAGE61Apr 3, 2017
CTC14Apr 19, 2024
CTF118Apr 19, 2024
CTLA41Apr 3, 2017
CTNNB12May 14, 2020
CTNS5Apr 19, 2024
CTNS-AS11Mar 21, 2019
CTPS11Apr 3, 2017
CTSA4Apr 19, 2024
CTSC5Mar 21, 2019
CTSG1Apr 3, 2017
CTU21Apr 3, 2017
CTXN2-AS11Apr 19, 2024
CUBN6Apr 19, 2024
CUL31Mar 21, 2019
CUZD12Apr 3, 2017
CYB5R31Jun 3, 2020
CYP11A11May 14, 2020
CYP11B12Mar 21, 2019
CYP11B26May 14, 2020
CYP17A11Mar 21, 2019
CYP1B16Apr 19, 2024
CYP21A23Mar 21, 2019
CYP24A13Mar 21, 2019
CYP26C11Mar 21, 2019
CYP27A12Mar 21, 2019
CYP2C81Apr 3, 2017
CYP2C93Jan 29, 2015
CYP2E12Apr 3, 2017
CYP2F11Apr 3, 2017
CYP2R11Apr 19, 2024
CYP3A41Mar 21, 2019
CYP4B11Apr 3, 2017
CYP4V24Apr 19, 2024
CYP7B11Mar 21, 2019
CZ1P-ASNS2Apr 19, 2024
DAG14Mar 21, 2019
DAP31Apr 19, 2024
DBH1Aug 18, 2015
DBT2Apr 19, 2024
DCLRE1C4Apr 3, 2017
DEFB1262Apr 3, 2017
DES75Apr 19, 2024
DGAT14Apr 19, 2024
DGUOK1Mar 21, 2019
DHCR77Apr 19, 2024
DHDDS1Mar 21, 2019
DHFR2Apr 3, 2017
DHODH2Mar 21, 2019
DHTKD11Apr 19, 2024
DIABLO14May 14, 2020
DIAPH163Apr 19, 2024
DICER14Apr 19, 2024
DKC11Apr 3, 2017
DMD109Apr 19, 2024
DMP11Mar 21, 2019
DMPK1Apr 3, 2017
DMXL11Apr 3, 2017
DNAAF129May 14, 2020
DNAAF111Apr 3, 2017
DNAAF195Mar 21, 2019
DNAAF218Apr 19, 2024
DNAAF316Mar 21, 2019
DNAAF3-AS111Apr 3, 2017
DNAAF45Mar 21, 2019
DNAAF4-CCPG15Mar 21, 2019
DNAAF54Apr 3, 2017
DNAH114Mar 21, 2019
DNAH1018Apr 3, 2017
DNAH10OS2Apr 3, 2017
DNAH11116Apr 19, 2024
DNAH1214Apr 3, 2017
DNAH1425Apr 3, 2017
DNAH1737Apr 19, 2024
DNAH17-AS110Apr 19, 2024
DNAH215Apr 3, 2017
DNAH38Apr 3, 2017
DNAH5108Jun 3, 2020
DNAH617Apr 3, 2017
DNAH713Apr 3, 2017
DNAH816Apr 3, 2017
DNAH8-AS13Apr 3, 2017
DNAH916Apr 3, 2017
DNAI117Mar 21, 2019
DNAI217Mar 21, 2019
DNAJA41Apr 3, 2017
DNAJB111Apr 19, 2024
DNAJB61Mar 21, 2019
DNAJC111Apr 3, 2017
DNAL15Apr 19, 2024
DNAL41Apr 3, 2017
DNASE1L14Mar 21, 2019
DNHD12Apr 19, 2024
DNM1L1Apr 19, 2024
DNM22Mar 21, 2019
DNMT3A3Apr 19, 2024
DNMT3B6Apr 3, 2017
DOCK61Mar 21, 2019
DOCK6-AS11Mar 21, 2019
DOCK846May 14, 2020
DOCK91Apr 3, 2017
DOK71Apr 19, 2024
DOLK19Mar 21, 2019
DONSON1Apr 19, 2024
DOP1A1Mar 21, 2019
DPAGT11Mar 21, 2019
DPY19L21Apr 3, 2017
DRC19Mar 21, 2019
DSC299Apr 19, 2024
DSC31Apr 3, 2017
DSCAS8Mar 21, 2019
DSG13Apr 3, 2017
DSG1-AS11Apr 3, 2017
DSG2121Apr 19, 2024
DSG2-AS147Apr 19, 2024
DSP299Apr 19, 2024
DSP-AS111Apr 19, 2024
DSPP1Apr 3, 2017
DST2Apr 3, 2017
DTNA45Apr 19, 2024
DTNBP19Mar 21, 2019
DUOX11Apr 3, 2017
DUOX25Apr 19, 2024
DUSP292May 27, 2021
DXO2Apr 3, 2017
DYM1Apr 3, 2017
DYNC1H16Apr 3, 2017
DYNC1I14Apr 3, 2017
DYNC1I21Apr 3, 2017
DYNC2H117Mar 21, 2019
DYNC2I11Mar 21, 2019
DYNC2LI12May 27, 2021
DYNLRB21Apr 3, 2017
DYNLRB2-AS11Apr 3, 2017
DYNLT31Apr 3, 2017
DYRK1A2Apr 19, 2024
DYSF26Apr 19, 2024
ECHS12Apr 19, 2024
EDA74Apr 19, 2024
EDAR6Mar 21, 2019
EDARADD1Aug 18, 2015
EDN311Mar 21, 2019
EDNRB28May 14, 2020
EDNRB-AS118May 14, 2020
EEA11Apr 3, 2017
EFCAB101Apr 3, 2017
EFEMP27Apr 19, 2024
EFHC11Apr 3, 2017
EGFR147Apr 19, 2024
EGFR-AS145Apr 19, 2024
EHMT11Apr 19, 2024
EIF2AK412Mar 21, 2019
EIF2B21Jun 3, 2020
EIF2B51May 14, 2020
ELAC21Apr 3, 2017
ELANE1Mar 21, 2019
ELF41Apr 3, 2017
ELMOD24Mar 21, 2019
ELN45Apr 19, 2024
ELN-AS17Mar 21, 2019
ELP13Apr 19, 2024
ELP21Apr 19, 2024
EMD19Mar 21, 2019
EML51Apr 3, 2017
EN11Apr 3, 2017
ENG20Apr 19, 2024
ENPP13Apr 19, 2024
ENTPD51Apr 3, 2017
EP3002May 14, 2020
EPB41L11Apr 3, 2017
EPCAM5Apr 19, 2024
EPG55Mar 21, 2019
EPHB41Apr 19, 2024
EPOR1May 14, 2020
EPS826Jun 3, 2020
ERAP11Apr 3, 2017
ERBB214Mar 21, 2019
ERCC28May 27, 2021
ERCC41Apr 3, 2017
ERCC53Apr 19, 2024
ERCC61May 27, 2021
ERCC81May 27, 2021
ERN11Apr 3, 2017
ESCO21Aug 18, 2015
ESPN33Apr 19, 2024
ESRRB56Apr 19, 2024
ETFB1Apr 3, 2017
ETV61Mar 21, 2019
EVC22May 27, 2021
EVI2A1Apr 3, 2017
EVI54Apr 3, 2017
EXD31Apr 3, 2017
EXOSC32Apr 19, 2024
EYA162Jun 3, 2020
EYA450Apr 19, 2024
EYS6Apr 19, 2024
F101Apr 19, 2024
F114Apr 19, 2024
F125Apr 19, 2024
F22Apr 19, 2024
F55Apr 19, 2024
F72May 27, 2021
F86Apr 19, 2024
FA2H1May 14, 2020
FAH2Mar 21, 2019
FAM111B1Apr 19, 2024
FAM20C4Mar 21, 2019
FAM24B-CUZD12Apr 3, 2017
FAM83H1Apr 3, 2017
FANCA5Apr 19, 2024
FANCB1Apr 3, 2017
FANCC3Apr 19, 2024
FANCD22Apr 19, 2024
FANCE1Mar 21, 2019
FANCF1Aug 18, 2015
FANCG3Apr 19, 2024
FANCI2Apr 19, 2024
FANCL1Mar 21, 2019
FAS1Apr 3, 2017
FAT49Mar 21, 2019
FBLN56Mar 21, 2019
FBN1301Apr 19, 2024
FBN223May 14, 2020
FBXL42Mar 21, 2019
FCGR2A6Apr 3, 2017
FCGR3A6Apr 3, 2017
FCGR3B1Apr 3, 2017
FCN11Apr 3, 2017
FCRL61Apr 3, 2017
FDXR1Mar 21, 2019
FECH4Apr 19, 2024
FERMT34Apr 3, 2017
FGB1Mar 21, 2019
FGD14May 14, 2020
FGF232Mar 21, 2019
FGFR11Apr 19, 2024
FGFR21Apr 19, 2024
FGG2May 27, 2021
FH3Apr 19, 2024
FHL230Apr 19, 2024
FIG42May 27, 2021
FIP1L11Mar 21, 2019
FKBP141Apr 3, 2017
FKBP14-AS11Apr 3, 2017
FKRP3Apr 19, 2024
FKTN4Mar 21, 2019
FLACC11Apr 3, 2017
FLCN10May 27, 2021
FLG7Mar 21, 2019
FLNC24Apr 19, 2024
FLNC-AS13Mar 21, 2019
FLT43Apr 3, 2017
FLVCR11Apr 19, 2024
FLVCR21Mar 21, 2019
FLVCR2-AS11Mar 21, 2019
FMO21Apr 3, 2017
FOCAD3Apr 3, 2017
FOLR11Apr 19, 2024
FOXE33Apr 19, 2024
FOXF13Mar 21, 2019
FOXN15Apr 3, 2017
FOXP11May 14, 2020
FOXP32Apr 19, 2024
FOXRED11Aug 18, 2015
FPR16Apr 3, 2017
FREM21Mar 21, 2019
FRG2B2Apr 3, 2017
FRMPD42Apr 19, 2024
FRYL1Jun 3, 2020
FSCN21Apr 3, 2017
FSIP11Apr 3, 2017
FTCD2Apr 19, 2024
FUBP11Apr 3, 2017
FUCA11Apr 3, 2017
FUS1Apr 3, 2017
FUT82Apr 3, 2017
FXN1Apr 19, 2024
FZD43Mar 21, 2019
G6PC12May 27, 2021
G6PC31Apr 3, 2017
G6PD4Apr 19, 2024
GAA24Apr 19, 2024
GABRA41Apr 3, 2017
GALC3Apr 19, 2024
GALE2Apr 19, 2024
GALK11Apr 19, 2024
GALNS6Apr 19, 2024
GALT2Apr 19, 2024
GAREM21Mar 21, 2019
GAS85Apr 3, 2017
GATA23Apr 3, 2017
GATA32Mar 21, 2019
GATA47Apr 19, 2024
GATAD119Mar 21, 2019
GBA15May 27, 2021
GBE11May 27, 2021
GCDH6Apr 19, 2024
GCH11Apr 3, 2017
GCK20Apr 19, 2024
GDF13Apr 3, 2017
GDF61Apr 3, 2017
GDNF4Mar 21, 2019
GFI14Apr 3, 2017
GFM13Mar 21, 2019
GFM21Mar 21, 2019
GFPT11Jun 3, 2020
GH-LCR1Apr 3, 2017
GIGYF22Apr 3, 2017
GIPC349Apr 19, 2024
GJB2121Apr 19, 2024
GJB322Mar 21, 2019
GJB615Mar 21, 2019
GJC22Apr 3, 2017
GJD2-DT46May 27, 2021
GLA50Apr 19, 2024
GLB11Mar 21, 2019
GLDC3Apr 19, 2024
GLIS31Mar 21, 2019
GLMN2Mar 21, 2019
GLRA12Mar 21, 2019
GML2Mar 21, 2019
GMPPB2Jun 3, 2020
GNA111Mar 21, 2019
GNAI11Apr 19, 2024
GNAS1Mar 21, 2019
GNB11May 14, 2020
GNE2Apr 19, 2024
GNPAT1Mar 21, 2019
GNPTAB2Mar 21, 2019
GNPTG3Mar 21, 2019
GNRHR2Apr 19, 2024
GOLGA6L102Apr 3, 2017
GOLGA6L61Apr 3, 2017
GPC31Apr 3, 2017
GPD1L5Jun 3, 2020
GPI2Mar 21, 2019
GPR1794Mar 21, 2019
GPSM242Jun 3, 2020
GREM11Apr 3, 2017
GRHL234Mar 21, 2019
GRHL32May 27, 2021
GRHPR3Mar 21, 2019
GRIN2A1Apr 19, 2024
GRIN2B1Apr 19, 2024
GRIP11Mar 21, 2019
GRM62Apr 19, 2024
GRXCR128May 14, 2020
GSAP1Apr 3, 2017
GSDMA1Apr 3, 2017
GSDMD1Apr 3, 2017
GSDME44May 14, 2020
GUCY2C3Apr 3, 2017
GUCY2C-AS11Apr 3, 2017
GUCY2D2Apr 3, 2017
GUSB1Apr 3, 2017
GYG13May 14, 2020
GYPE1Apr 3, 2017
GYS11Apr 19, 2024
GYS22Mar 21, 2019
H6PD1Apr 3, 2017
HADHA1Mar 21, 2019
HADHB1Apr 3, 2017
HARS116Apr 19, 2024
HARS224Apr 19, 2024
HAVCR11Apr 3, 2017
HBA16Apr 19, 2024
HBA27Apr 19, 2024
HBB20Apr 19, 2024
HBG11Apr 3, 2017
HCN23Apr 3, 2017
HCN42Apr 3, 2017
HDAC94Apr 3, 2017
HEATR11Apr 3, 2017
HERC23Apr 3, 2017
HESX11Mar 21, 2019
HEXA4Apr 19, 2024
HEXB1Apr 3, 2017
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PIGP1Mar 21, 2019
PIGV3Mar 21, 2019
PIK3CA15May 14, 2020
PIK3R14Apr 3, 2017
PINK11Mar 6, 2015
PJVK25Apr 19, 2024
PKD13Apr 19, 2024
PKD1L11Apr 19, 2024
PKD1L1-AS11Apr 19, 2024
PKD21Apr 19, 2024
PKD2L2-DT1Mar 21, 2019
PKHD16May 27, 2021
PKLR2Apr 19, 2024
PKM2Apr 3, 2017
PKP2178Apr 19, 2024
PLA2G4D1Apr 3, 2017
PLA2G62May 14, 2020
PLCE11Apr 19, 2024
PLCG29Apr 3, 2017
PLD31Apr 3, 2017
PLEC73Mar 21, 2019
PLIN41Apr 3, 2017
PLN13Mar 21, 2019
PLOD11Apr 19, 2024
PLUT1Apr 19, 2024
PML2Apr 3, 2017
PMM23Apr 19, 2024
PMS289Apr 19, 2024
PNKD1Mar 21, 2019
PNKP3Apr 19, 2024
PNP5Mar 21, 2019
PNPLA11Apr 3, 2017
PNPLA32May 27, 2021
PNPO1Apr 19, 2024
POLD122Apr 19, 2024
POLE70Apr 19, 2024
POLG8May 27, 2021
POLG21Apr 3, 2017
POLGARF8May 27, 2021
POLH1May 14, 2020
POLR1C7May 14, 2020
POLR2A1May 14, 2020
POLR2F24Mar 21, 2019
POMGNT13Mar 21, 2019
POMT115Apr 19, 2024
POMT24Mar 21, 2019
POU3F423May 27, 2021
POU4F325Jun 3, 2020
PPA11Apr 3, 2017
PPA21May 27, 2021
PPARG1Apr 19, 2024
PPIL12May 14, 2020
PPOX1Mar 6, 2015
PPP1CB1Mar 21, 2019
PPP1R171Apr 3, 2017
PPP1R371Apr 3, 2017
PPT11Apr 3, 2017
PRAMEF12Apr 3, 2017
PRAMEF22Apr 3, 2017
PRDM11Jun 3, 2020
PRDM1685Apr 19, 2024
PRDM21Apr 3, 2017
PREPL2Mar 21, 2019
PRF14Mar 21, 2019
PRKAG288Apr 19, 2024
PRKAR1A1Mar 21, 2019
PRKCD5Apr 3, 2017
PRKG11Apr 19, 2024
PRKN3Apr 19, 2024
PRKRA1Apr 3, 2017
PRODH1Apr 3, 2017
PROM11Aug 18, 2015
PROP14Apr 3, 2017
PROS11Jun 3, 2020
PRPS15Mar 21, 2019
PRSS13Mar 21, 2019
PRSS232Mar 21, 2019
PRSS562May 14, 2020
PRX1Aug 18, 2015
PSAP13May 27, 2021
PSMB82Apr 3, 2017
PSPH1Apr 3, 2017
PTCH11Apr 3, 2017
PTCHD1-AS1Mar 21, 2019
PTCHD31Apr 3, 2017
PTEN20Apr 19, 2024
PTGES3L1Apr 3, 2017
PTGES3L-AARSD11Apr 3, 2017
PTH1Mar 21, 2019
PTPN11119Apr 19, 2024
PTPRD2Mar 21, 2019
PURA1Mar 21, 2019
PXDNL5Apr 3, 2017
PYCR21May 14, 2020
PYGL2Apr 3, 2017
PYGM5Apr 19, 2024
QARS11Apr 19, 2024
QDPR1Mar 21, 2019
RAB27A2Mar 21, 2019
RAB3GAP11Mar 21, 2019
RAB3GAP21Aug 18, 2015
RAC22Apr 3, 2017
RAD171Apr 3, 2017
RAD521Apr 3, 2017
RAF193May 27, 2021
RAG12Apr 3, 2017
RAI12Apr 3, 2017
RANBP26Mar 21, 2019
RAPSN1Mar 6, 2015
RARS11May 27, 2021
RARS21Apr 3, 2017
RASGRP24Apr 3, 2017
RB110Apr 19, 2024
RBCK11Apr 3, 2017
RBM20144Apr 19, 2024
RBM8A2Apr 19, 2024
RBMX1Apr 3, 2017
RDH51Aug 18, 2015
RDX33Apr 19, 2024
RECQL45Mar 21, 2019
RECQL51Apr 3, 2017
RELN1Apr 19, 2024
RET46Apr 19, 2024
RFX52Apr 3, 2017
RFXANK2Apr 3, 2017
RGPD41Apr 3, 2017
RGS21Apr 3, 2017
RHPN21Apr 3, 2017
RIF112Apr 19, 2024
RINT13Apr 3, 2017
RIPK21Apr 3, 2017
RIPOR236Apr 19, 2024
RIT114Mar 21, 2019
RLIM1Apr 19, 2024
RMND11Mar 21, 2019
RNASEH2A6Mar 21, 2019
RNASEH2B1Mar 21, 2019
RNF141Apr 19, 2024
RNF1681Apr 3, 2017
RNF2121Apr 3, 2017
RNF433Apr 3, 2017
RNR11Mar 21, 2019
ROCK22Apr 3, 2017
RP11Mar 21, 2019
RP1L12May 14, 2020
RP21Apr 3, 2017
RPE652Apr 19, 2024
RPGR25May 27, 2021
RPGRIP1L6Apr 19, 2024
RPL36A-HNRNPH251Apr 19, 2024
RPN21Apr 3, 2017
RPS191Apr 3, 2017
RPS6KA31Apr 19, 2024
RPSA2Apr 3, 2017
RRAS2May 27, 2021
RSPH17Mar 21, 2019
RSPH4A19May 14, 2020
RSPH95Mar 21, 2019
RSU11Apr 3, 2017
RTEL116May 14, 2020
RTEL1-TNFRSF6B16May 14, 2020
RTN21Mar 21, 2019
RTTN7Apr 3, 2017
RUNX11Mar 21, 2019
RXYLT12Apr 19, 2024
RYR1102Apr 19, 2024
RYR2333Apr 19, 2024
S1PR216May 27, 2021
SACS8Apr 19, 2024
SAMHD11Mar 21, 2019
SAPCD11Apr 3, 2017
SAR1B1Mar 21, 2019
SARM11Apr 3, 2017
SARS21Apr 3, 2017
SBDS4Apr 19, 2024
SCARF23Apr 3, 2017
SCN11A1Mar 21, 2019
SCN1A-AS12Mar 21, 2019
SCN1B6Apr 19, 2024
SCN2A1Apr 19, 2024
SCN3B2Mar 21, 2019
SCN4B2Apr 3, 2017
SCN5A226Apr 19, 2024
SCN9A2Mar 21, 2019
SCNN1A16Mar 21, 2019
SCNN1B12Mar 21, 2019
SCNN1G11May 27, 2021
SCO22Mar 21, 2019
SDHA3Apr 19, 2024
SDHAF25Apr 19, 2024
SDHB27Apr 19, 2024
SDHC9Apr 19, 2024
SDHD14Jun 3, 2020
SEC23B1Mar 21, 2019
SEC633Apr 3, 2017
SECISBP21May 27, 2021
SELENON9May 14, 2020
SEMA3A1Apr 3, 2017
SEMA4A1Apr 3, 2017
SERAC14Mar 21, 2019
SERPINA116Apr 19, 2024
SERPINA32Apr 3, 2017
SERPINB640Apr 19, 2024
SERPING12Apr 3, 2017
SETBP12Apr 3, 2017
SETD1B1Apr 19, 2024
SETX8Apr 3, 2017
SFTA32Mar 21, 2019
SFTPA119Mar 21, 2019
SFTPA210Jun 3, 2020
SFTPB12Mar 21, 2019
SFTPC5Mar 21, 2019
SFTPD12Mar 21, 2019
SGCA4Apr 19, 2024
SGCD45Mar 21, 2019
SGCG8Mar 21, 2019
SGSH4Apr 3, 2017
SH3BP23Apr 3, 2017
SH3TC21Mar 21, 2019
SHANK32May 14, 2020
SHARPIN4Apr 3, 2017
SHH1Apr 3, 2017
SHOC28Mar 21, 2019
SHROOM36Apr 3, 2017
SHROOM3-AS16Apr 3, 2017
SI4Apr 19, 2024
SIGLEC121Apr 3, 2017
SIX16Apr 19, 2024
SKI7Mar 21, 2019
SKIC26Apr 3, 2017
SKIC31Mar 21, 2019
SLC10A22Apr 3, 2017
SLC12A13Apr 19, 2024
SLC12A36Apr 19, 2024
SLC13A51Mar 21, 2019
SLC17A814Mar 21, 2019
SLC19A12Mar 21, 2019
SLC22A11Apr 3, 2017
SLC22A125Mar 21, 2019
SLC22A54Mar 21, 2019
SLC24A51Mar 21, 2019
SLC26A11Aug 18, 2015
SLC26A22Mar 21, 2019
SLC26A31Mar 21, 2019
SLC26A4171Apr 19, 2024
SLC26A4-AS122Apr 19, 2024
SLC26A516Mar 21, 2019
SLC26A95Apr 3, 2017
SLC2A108Apr 19, 2024
SLC2A21Mar 21, 2019
SLC34A17Apr 19, 2024
SLC34A22Apr 3, 2017
SLC34A34Mar 21, 2019
SLC35A11Apr 3, 2017
SLC35C13Apr 3, 2017
SLC35D2-HSD17B31Mar 21, 2019
SLC37A41Mar 21, 2019
SLC38A51Apr 3, 2017
SLC39A132Apr 3, 2017
SLC39A45Apr 3, 2017
SLC3A13Mar 21, 2019
SLC46A11Apr 3, 2017
SLC4A11Apr 3, 2017
SLC4A112Mar 21, 2019
SLC52A214May 27, 2021
SLC52A333May 27, 2021
SLC5A18Apr 3, 2017
SLC5A21Apr 19, 2024
SLC6A191Mar 21, 2019
SLC6A51Apr 3, 2017
SLC6A81Apr 19, 2024
SLC7A71Apr 3, 2017
SLC7A94Apr 19, 2024
SLITRK623May 27, 2021
SLURP11Mar 21, 2019
SMAD38Apr 19, 2024
SMAD44Apr 19, 2024
SMAD97Mar 21, 2019
SMC31Apr 19, 2024
SMN11Apr 19, 2024
SMO1Apr 3, 2017
SMPD15Mar 21, 2019
SMPX1Mar 21, 2019
SNAI23Jun 3, 2020
SNAPC42Apr 3, 2017
SNAPC52Mar 21, 2019
SNCAIP1Apr 3, 2017
SNHG222Apr 3, 2017
SNORD1181Apr 19, 2024
SNX131Apr 3, 2017
SORD1Apr 19, 2024
SOS1115Apr 19, 2024
SOS24May 14, 2020
SOX1024Mar 21, 2019
SOX31Apr 19, 2024
SP11013Apr 3, 2017
SP1407Apr 3, 2017
SPAG14Apr 3, 2017
SPAG71Apr 3, 2017
SPAST1Apr 3, 2017
SPATA224Apr 19, 2024
SPATA31F12Apr 3, 2017
SPATA71Mar 6, 2015
SPATC1L3Apr 3, 2017
SPEF214Apr 3, 2017
SPEN2Apr 3, 2017
SPG113Apr 19, 2024
SPG75Apr 19, 2024
SPINK11May 27, 2021
SPINK521Apr 19, 2024
SPRED120Apr 19, 2024
SPRY41Apr 3, 2017
SPTA13Apr 19, 2024
SQSTM11Mar 21, 2019
SRFBP11May 27, 2021
SRP142Apr 3, 2017
SRPK31Apr 19, 2024
SRRD1Apr 3, 2017
SRRM21Apr 19, 2024
SSC5D2Apr 3, 2017
SSUH27Mar 21, 2019
ST6GALNAC4-ST6GALNAC6-AK11Apr 3, 2017
STAC31Apr 19, 2024
STAT12Mar 21, 2019
STAT25Apr 3, 2017
STAT34May 14, 2020
STAT41Apr 3, 2017
STAT5B1Apr 3, 2017
STIL1Apr 19, 2024
STIM12Apr 3, 2017
STING12Apr 3, 2017
STK119Mar 21, 2019
STK363Apr 3, 2017
STRC120Apr 19, 2024
STX111Apr 3, 2017
STXBP11Mar 21, 2019
STXBP26Apr 3, 2017
SUCLA21Mar 21, 2019
SUCLG11Apr 3, 2017
SULT1C31Apr 3, 2017
SUMF11Apr 19, 2024
SYNE14Mar 21, 2019
SYNE434Apr 19, 2024
SYNGAP11May 14, 2020
SYNGAP1-AS11May 14, 2020
SYNM1Apr 3, 2017
SYNM-AS11Apr 3, 2017
SYVN11Apr 3, 2017
TAF1011Mar 21, 2019
TAF1C1Apr 3, 2017
TAFAZZIN29Apr 19, 2024
TALDO11Aug 18, 2015
TANGO21Mar 21, 2019
TAP13Apr 3, 2017
TAP212Apr 3, 2017
TAPBP2Apr 3, 2017
TARDBP1Apr 3, 2017
TARID15Apr 19, 2024
TBC1D2467Jun 3, 2020
TBCE1Apr 3, 2017
TBCEL-TECTA197Apr 19, 2024
TBK13Apr 3, 2017
TBP1Apr 3, 2017
TBX13Mar 21, 2019
TBX43Apr 3, 2017
TBX51Mar 21, 2019
TCAF21Apr 3, 2017
TCAP22Jun 3, 2020
TCF42Apr 19, 2024
TCIRG15Apr 19, 2024
TCN21Apr 3, 2017
TCTN21Mar 6, 2015
TCTN32May 27, 2021
TECTA197Apr 19, 2024
TEKTIP11Apr 3, 2017
TELO22Mar 21, 2019
TENM21Apr 3, 2017
TENT5A1Apr 3, 2017
TERC1Mar 21, 2019
TERT29Jun 3, 2020
TEX112Apr 19, 2024
TG2Mar 21, 2019
TGFB24Apr 19, 2024
TGFB31Apr 19, 2024
TGFBR125Apr 19, 2024
TGFBR238Apr 19, 2024
TGIF11Apr 3, 2017
TGM12Apr 19, 2024
TH1Aug 18, 2015
THBD1Apr 3, 2017
THBS15Apr 3, 2017
THPO1Apr 19, 2024
TICAM14Apr 3, 2017
TIMM8A7May 14, 2020
TJP260Mar 21, 2019
TK21Mar 21, 2019
TLK11Apr 19, 2024
TLR33Jun 3, 2020
TMC185Apr 19, 2024
TMC64Apr 3, 2017
TMC83Apr 3, 2017
TMCO12May 27, 2021
TMEM1071Apr 19, 2024
TMEM126B1Apr 19, 2024
TMEM1272Mar 21, 2019
TMEM2161May 14, 2020
TMEM2371Mar 21, 2019
TMEM4354May 27, 2021
TMEM671Mar 21, 2019
TMEM701Mar 21, 2019
TMEM942Apr 19, 2024
TMIE23Mar 21, 2019
TMPO46May 27, 2021
TMPO-AS15Mar 21, 2019
TMPRSS151Mar 21, 2019
TMPRSS380Apr 19, 2024
TMPRSS61Apr 3, 2017
TNFRSF11A4Apr 3, 2017
TNFRSF13B6Apr 19, 2024
TNFRSF1A3Apr 19, 2024
TNFRSF41Apr 3, 2017
TNFRSF6B1Apr 3, 2017
TNNC125May 27, 2021
TNNI3102Apr 19, 2024
TNNT16Mar 21, 2019
TNNT2122Apr 19, 2024
TNXB7Apr 19, 2024
TOMT21May 14, 2020
TOR1A1Mar 21, 2019
TP5356Apr 19, 2024
TP53BP11Mar 21, 2019
TPI11Mar 21, 2019
TPM1104Apr 19, 2024
TPM1-AS4Mar 21, 2019
TPM22Apr 19, 2024
TPM31Mar 21, 2019
TPMT1Mar 21, 2019
TPP12Apr 19, 2024
TPRN25Apr 19, 2024
TPSB22Apr 3, 2017
TPTE21Apr 3, 2017
TRAF11Apr 3, 2017
TRAF3IP23Apr 3, 2017
TRAF3IP2-AS13Apr 3, 2017
TRAPPC112Apr 19, 2024
TRB3Mar 21, 2019
TRDN51Apr 19, 2024
TRDN-AS11Mar 21, 2019
TREX12Apr 3, 2017
TRIM322Mar 21, 2019
TRIO1May 14, 2020
TRIOBP153Apr 19, 2024
TRIP103Apr 3, 2017
TRIP113May 27, 2021
TRIP121Apr 19, 2024
TRIP41Apr 19, 2024
TRNT15Apr 3, 2017
TSC131Apr 19, 2024
TSC264Apr 19, 2024
TSEN541Mar 21, 2019
TSHR3Mar 21, 2019
TSPAN12Mar 21, 2019
TSPEAR62Mar 21, 2019
TSPEAR-AS16Mar 21, 2019
TSPOAP12Apr 3, 2017
TSPOAP1-AS11Apr 3, 2017
TSR21May 14, 2020
TTC146May 14, 2020
TTC21B1Apr 3, 2017
TTC291Apr 19, 2024
TTC7A4Apr 3, 2017
TTC81Aug 18, 2015
TTLL15Apr 3, 2017
TTLL1-AS12Apr 3, 2017
TTN2896Apr 19, 2024
TTN-AS11570Apr 19, 2024
TTPA2Mar 21, 2019
TTR26Apr 19, 2024
TUBB82Apr 19, 2024
TUBGCP41Mar 21, 2019
TULP11Mar 21, 2019
TXNL4A1Apr 19, 2024
TYK23Apr 3, 2017
TYMP2Mar 21, 2019
TYR6Apr 19, 2024
TYRP11Aug 18, 2015
UBA53Apr 19, 2024
UBE4A1Apr 3, 2017
UBR12Apr 19, 2024
UBTF1May 14, 2020
UGT1A2May 27, 2021
UGT1A12May 27, 2021
UGT1A102May 27, 2021
UGT1A32May 27, 2021
UGT1A42May 27, 2021
UGT1A52May 27, 2021
UGT1A62May 27, 2021
UGT1A72May 27, 2021
UGT1A82May 27, 2021
UGT1A92May 27, 2021
UGT2A11Apr 3, 2017
ULK49Apr 3, 2017
UNC1191Apr 3, 2017
UNC13D7Apr 3, 2017
UNC801Mar 21, 2019
UNC93B12Apr 3, 2017
UPB13Apr 19, 2024
USB12Apr 3, 2017
USH1C142May 27, 2021
USH1G37Apr 19, 2024
USH2A630Apr 19, 2024
USH2A-AS144May 14, 2020
USH2A-AS235Apr 19, 2024
UTP41Apr 3, 2017
VANGL14Mar 21, 2019
VAV13Apr 3, 2017
VCL100Apr 19, 2024
VCX3A1Apr 3, 2017
VDR2Mar 21, 2019
VHL30Apr 19, 2024
VIPAS391Apr 19, 2024
VKORC12Jan 26, 2015
VPS13A2May 14, 2020
VPS13B5Apr 19, 2024
VPS13C8Apr 19, 2024
VPS531Apr 3, 2017
VRK21Mar 21, 2019
VSIG101Apr 3, 2017
VSX12Apr 3, 2017
VWF13Apr 19, 2024
WARS21Apr 19, 2024
WARS2-AS11Apr 19, 2024
WDR191Apr 19, 2024
WDR351Mar 21, 2019
WDR361Apr 3, 2017
WDR622Apr 19, 2024
WDR722Apr 19, 2024
WFS1226Apr 19, 2024
WHRN112May 27, 2021
WIPF12Apr 3, 2017
WNT10A1Apr 19, 2024
WRAP533Apr 3, 2017
WRN2Mar 21, 2019
WT16Apr 19, 2024
WWC11Apr 3, 2017
XDH2Mar 21, 2019
XIAP2Apr 3, 2017
XIRP21Apr 3, 2017
XIRP2-AS11Apr 3, 2017
XRCC42May 27, 2021
YBEY4Apr 3, 2017
YY1AP11Apr 19, 2024
ZAN3Apr 3, 2017
ZAP703Apr 3, 2017
ZBTB221Apr 3, 2017
ZC3H141Apr 3, 2017
ZDHHC242Mar 21, 2019
ZEB11Apr 19, 2024
ZFAT1Apr 3, 2017
ZFHX41May 14, 2020
ZFP571Apr 19, 2024
ZFPM23Apr 3, 2017
ZFPM2-AS12Apr 3, 2017
ZFYVE262Apr 19, 2024
ZIC31Apr 3, 2017
ZIC42Apr 3, 2017
ZIC51Apr 3, 2017
ZMPSTE241Mar 21, 2019
ZNF1412Apr 3, 2017
ZNF181Apr 3, 2017
ZNF2331Apr 3, 2017
ZNF4542Apr 19, 2024
ZNF4801Apr 3, 2017
ZNF5361Apr 3, 2017
ZNF6273Apr 3, 2017
ZNF6742Mar 21, 2019
ZNF705G1Apr 3, 2017
ZRANB31Mar 21, 2019

Condition

NameSubmissionsLast Updated
3 beta-Hydroxysteroid dehydrogenase deficiency1Mar 21, 2019
3-Methylglutaconic aciduria type 210Mar 21, 2019
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Aug 18, 2015
ACTH-independent macronodular adrenal hyperplasia 21Mar 21, 2019
Achondrogenesis, type IA2May 27, 2021
Achromatopsia5May 14, 2020
Achromatopsia 21Aug 18, 2015
Acrocallosal syndrome1Aug 18, 2015
Acroerythrokeratoderma1Mar 21, 2019
Acute intermittent porphyria1Apr 19, 2024
Acyl-CoA oxidase deficiency1Aug 18, 2015
Adams-Oliver syndrome1Mar 21, 2019
Adenylosuccinate lyase deficiency1Mar 21, 2019
Adult hypophosphatasia1Apr 19, 2024
Aganglionic megacolon3Apr 19, 2024
Aicardi Goutieres syndrome4Mar 21, 2019
Aicardi-Goutieres syndrome 11Aug 18, 2015
Alkaptonuria5Apr 19, 2024
Alpha-1-antitrypsin deficiency4Apr 19, 2024
Alpha-N-acetylgalactosaminidase deficiency type 11Mar 6, 2015
Alpha-methylacyl-CoA racemase deficiency1Apr 19, 2024
Alstrom syndrome3Apr 19, 2024
Alternating hemiplegia of childhood1Mar 21, 2019
Amelogenesis imperfecta2Apr 19, 2024
Amelogenesis imperfecta type 2A11Apr 19, 2024
Amyloidosis, hereditary systemic 17Apr 19, 2024
Analbuminemia1Mar 21, 2019
Andersen Tawil syndrome1Apr 19, 2024
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Apr 19, 2024
Argininosuccinate lyase deficiency2Apr 19, 2024
Arrhythmogenic right ventricular cardiomyopathy122Apr 19, 2024
Arterial tortuosity syndrome4Apr 19, 2024
Arteriohepatic dysplasia1Mar 21, 2019
Arthrogryposis with renal dysfunction and cholestasis syndrome1Apr 19, 2024
Asphyxiating thoracic dystrophy 51Apr 19, 2024
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Mar 21, 2019
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4Apr 19, 2024
Ataxia-telangiectasia syndrome10Apr 19, 2024
Atrichia with papular lesions1Mar 21, 2019
Atypical hemolytic-uremic syndrome2Apr 19, 2024
Auditory neuropathy-optic atrophy syndrome1Mar 21, 2019
Autosomal dominant hypohidrotic ectodermal dysplasia2Mar 21, 2019
Autosomal erythropoietic protoporphyria2Apr 19, 2024
Autosomal recessive DOPA responsive dystonia1Aug 18, 2015
Autosomal recessive ataxia, Beauce type1Aug 18, 2015
Autosomal recessive axonal hereditary motor and sensory neuropathy1Mar 21, 2019
Autosomal recessive bestrophinopathy3Mar 21, 2019
Autosomal recessive cerebellar ataxia2Mar 21, 2019
Autosomal recessive chorioretinopathy-microcephaly syndrome1Mar 21, 2019
Autosomal recessive congenital ichthyosis1Mar 21, 2019
Autosomal recessive congenital ichthyosis 21Aug 18, 2015
Autosomal recessive distal spinal muscular atrophy 11Mar 21, 2019
Autosomal recessive early-onset Parkinson disease 61Mar 6, 2015
Autosomal recessive infantile hypercalcemia1May 14, 2020
Autosomal recessive inherited pseudoxanthoma elasticum2Mar 21, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2A1Aug 18, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2C2Aug 18, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2D2Apr 19, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2L1Aug 18, 2015
Autosomal recessive osteopetrosis1Apr 19, 2024
Autosomal recessive osteopetrosis 11Mar 6, 2015
Autosomal recessive polycystic kidney disease3May 27, 2021
Autosomal recessive primary microcephaly2Mar 21, 2019
Autosomal recessive spastic ataxia4Apr 19, 2024
Bardet-Biedl syndrome4May 14, 2020
Bardet-Biedl syndrome 101Mar 6, 2015
Bardet-Biedl syndrome 21Aug 18, 2015
Bardet-Biedl syndrome 81Aug 18, 2015
Beta-hydroxyisobutyryl-CoA deacylase deficiency2May 14, 2020
Bietti crystalline corneoretinal dystrophy4Apr 19, 2024
Bilateral frontoparietal polymicrogyria1Mar 6, 2015
Biotinidase deficiency7Apr 19, 2024
Birt-Hogg-Dube syndrome3May 27, 2021
Bloom syndrome3Apr 19, 2024
Bohring-Opitz syndrome1May 27, 2021
Brachyolmia1Mar 21, 2019
Brody myopathy1Mar 21, 2019
Brown-Vialetto-van Laere syndrome 21Aug 18, 2015
Brugada syndrome30Apr 19, 2024
CCDC115-CDG1May 27, 2021
CHARGE syndrome3May 14, 2020
CHEK2-related cancer predisposition1Mar 21, 2019
CHEK2-related cancer risk1May 27, 2021
COG4-congenital disorder of glycosylation1Aug 18, 2015
Café-au-lait macules with pulmonary stenosis1Mar 21, 2019
Capillary malformation-arteriovenous malformation syndrome1Apr 19, 2024
Cardiac arrhythmia, ankyrin-B-related1Aug 18, 2015
Cardio-facio-cutaneous syndrome54Jun 3, 2020
Cardiomyopathy12Apr 19, 2024
Carney complex1Mar 21, 2019
Carnitine palmitoyl transferase 1A deficiency1Mar 21, 2019
Carnitine palmitoyltransferase II deficiency2Apr 19, 2024
Catecholaminergic polymorphic ventricular tachycardia12Apr 19, 2024
Central core myopathy13Apr 19, 2024
Centronuclear myopathy5Apr 19, 2024
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Mar 21, 2019
Charcot-Marie-Tooth disease2Apr 19, 2024
Charcot-Marie-Tooth disease type 2A21Jun 3, 2020
Charcot-Marie-Tooth disease type 4C1Mar 21, 2019
Charcot-Marie-Tooth disease type 4F1Aug 18, 2015
Charcot-Marie-Tooth disease type 4J2May 27, 2021
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia1May 14, 2020
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Apr 19, 2024
Cholestanol storage disease1Mar 21, 2019
Chorea-acanthocytosis2May 14, 2020
Chronic mucocutaneous candidiasis2Apr 19, 2024
Chronic obstructive pulmonary disease1Jun 3, 2020
Chylomicron retention disease1Mar 21, 2019
Citrullinemia type I3Apr 19, 2024
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Mar 21, 2019
Classic homocystinuria13Apr 19, 2024
Coats plus syndrome2Apr 19, 2024
Cobalamin C disease2Mar 21, 2019
Cobblestone lissencephaly without muscular or ocular involvement1Apr 19, 2024
Cockayne syndrome type 11May 27, 2021
Cockayne syndrome type 21May 27, 2021
Coenzyme Q10 deficiency, primary, 11May 14, 2020
Coffin-Lowry syndrome1Apr 19, 2024
Coffin-Siris syndrome1May 14, 2020
Cohen syndrome2Apr 19, 2024
Colorectal cancer1May 14, 2020
Combined deficiency of sialidase AND beta galactosidase1Apr 19, 2024
Combined immunodeficiency due to LRBA deficiency1Apr 19, 2024
Combined immunodeficiency due to moesin deficiency1Mar 21, 2019
Combined malonic and methylmalonic acidemia1Apr 19, 2024
Combined oxidative phosphorylation defect type 71Mar 21, 2019
Combined oxidative phosphorylation defect type 81Mar 21, 2019
Common variable immunodeficiency1Apr 19, 2024
Complement component 2 deficiency2Apr 19, 2024
Complement component 5 deficiency2Apr 19, 2024
Complement component 6 deficiency5Apr 19, 2024
Complement component 9 deficiency1Apr 19, 2024
Cone-rod dystrophy1Apr 19, 2024
Cone-rod dystrophy and hearing loss 11Apr 19, 2024
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1May 14, 2020
Congenital afibrinogenemia1Mar 21, 2019
Congenital amegakaryocytic thrombocytopenia1Mar 21, 2019
Congenital bilateral aplasia of vas deferens from CFTR mutation4Mar 21, 2019
Congenital central hypoventilation2Mar 21, 2019
Congenital diarrhea 5 with tufting enteropathy2Apr 19, 2024
Congenital diarrhea 7 with exudative enteropathy1Apr 19, 2024
Congenital disorder of glycosylation3Apr 19, 2024
Congenital dyserythropoietic anemia1Mar 21, 2019
Congenital factor V deficiency2Apr 19, 2024
Congenital hereditary endothelial dystrophy of cornea2Mar 21, 2019
Congenital hydrocephalus1Mar 21, 2019
Congenital hypothyroidism3Apr 19, 2024
Congenital long QT syndrome66Apr 19, 2024
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization1Mar 21, 2019
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome2Apr 19, 2024
Congenital microvillous atrophy1Mar 21, 2019
Congenital muscular dystrophy due to integrin alpha-7 deficiency1Apr 19, 2024
Congenital myasthenic syndrome6Apr 19, 2024
Congenital myasthenic syndrome 4C2Mar 6, 2015
Congenital myopathy1Apr 19, 2024
Congenital myotonia, autosomal dominant form1Mar 21, 2019
Congenital primary aphakia3Apr 19, 2024
Congenital prothrombin deficiency1Apr 19, 2024
Congenital secretory diarrhea, chloride type1Mar 21, 2019
Congenital stationary night blindness5Apr 19, 2024
Corticosterone 18-monooxygenase deficiency1May 14, 2020
Costello syndrome12Mar 21, 2019
Cranioectodermal dysplasia1Mar 21, 2019
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 12May 27, 2021
Creatine transporter deficiency1Apr 19, 2024
Crigler-Najjar syndrome, type II1May 27, 2021
Crouzon syndrome1Apr 19, 2024
Cutis laxa1Apr 19, 2024
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1Mar 6, 2015
Cystic fibrosis21Apr 19, 2024
Cystinosis2Apr 19, 2024
Cystinuria5Apr 19, 2024
DICER1-related tumor predisposition1May 14, 2020
DNA ligase IV deficiency1Mar 21, 2019
DYRK1A-related intellectual disability syndrome2Apr 19, 2024
Danon disease16Mar 21, 2019
De Lange syndrome1Apr 19, 2024
Deafness dystonia syndrome1May 14, 2020
Deafness-infertility syndrome1Mar 21, 2019
Deficiency of 2-methylbutyryl-CoA dehydrogenase2Apr 19, 2024
Deficiency of alpha-mannosidase2May 27, 2021
Deficiency of beta-ureidopropionase1Apr 19, 2024
Deficiency of butyryl-CoA dehydrogenase2Apr 19, 2024
Deficiency of butyrylcholinesterase2Apr 19, 2024
Deficiency of ferroxidase1Apr 19, 2024
Deficiency of galactokinase1Apr 19, 2024
Deficiency of steroid 11-beta-monooxygenase1Mar 21, 2019
Deficiency of steroid 17-alpha-monooxygenase1Mar 21, 2019
Deficiency of transaldolase1Aug 18, 2015
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Mar 21, 2019
Desmin-related myofibrillar myopathy10Apr 19, 2024
Diabetes mellitus, transient neonatal, 11Apr 19, 2024
Diastrophic dysplasia1Mar 21, 2019
Diencephalic-mesencephalic junction dysplasia1Apr 19, 2024
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1Apr 19, 2024
Diffuse interstitial pulmonary fibrosis3Mar 21, 2019
Diffuse lymphatic malformation1Apr 19, 2024
Dihydropteridine reductase deficiency1Mar 21, 2019
Dilated cardiomyopathy 1G1Aug 18, 2015
Distal spinal muscular atrophy2Mar 21, 2019
Dubin-Johnson syndrome2May 14, 2020
Dyskeratosis congenita4May 14, 2020
Early infantile epileptic encephalopathy with suppression bursts4Apr 19, 2024
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation1Apr 19, 2024
Ectodermal dysplasia1Mar 21, 2019
Ectopia lentis1Mar 21, 2019
Ehlers-Danlos syndrome3Apr 19, 2024
Ehlers-Danlos syndrome due to tenascin-X deficiency2Apr 19, 2024
Ehlers-Danlos syndrome, type 417Apr 19, 2024
Eichsfeld type congenital muscular dystrophy1Mar 21, 2019
Ellis-van Creveld syndrome2May 27, 2021
Epidermolysis bullosa dystrophica4Apr 19, 2024
Episodic ataxia type 21Mar 21, 2019
Fabry disease14Apr 19, 2024
Factor V deficiency2Jun 3, 2020
Factor VII deficiency1May 27, 2021
Familial Mediterranean fever7Apr 19, 2024
Familial adenomatous polyposis 223Apr 19, 2024
Familial aplasia of the vermis10Apr 19, 2024
Familial cancer of breast8Apr 19, 2024
Familial dysautonomia3Apr 19, 2024
Familial exudative vitreoretinopathy1Mar 21, 2019
Familial hemophagocytic lymphohistiocytosis1Mar 21, 2019
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome1Aug 18, 2015
Familial hypokalemia-hypomagnesemia1Apr 19, 2024
Familial idiopathic steroid-resistant nephrotic syndrome1Mar 21, 2019
Familial isolated deficiency of vitamin E2Mar 21, 2019
Familial multiple polyposis syndrome22Apr 19, 2024
Familial partial lipodystrophy1Apr 19, 2024
Familial renal glucosuria1Apr 19, 2024
Familial renal hypouricemia1Mar 21, 2019
Familial thoracic aortic aneurysm and aortic dissection14Apr 19, 2024
Familial thyroid dyshormonogenesis3Apr 19, 2024
Fanconi anemia16Apr 19, 2024
Fanconi anemia complementation group A1Aug 18, 2015
Fanconi anemia complementation group F1Aug 18, 2015
Farber lipogranulomatosis1Mar 21, 2019
Finnish congenital nephrotic syndrome2Apr 19, 2024
Fowler syndrome1Mar 21, 2019
Fraser syndrome 11Mar 21, 2019
Frasier syndrome2Apr 19, 2024
Friedreich ataxia 11Apr 19, 2024
GAPO syndrome1Mar 21, 2019
GM1 gangliosidosis1Mar 21, 2019
GNE myopathy2Apr 19, 2024
Galactosemia2Apr 19, 2024
Galactosylceramide beta-galactosidase deficiency3Apr 19, 2024
Gastrointestinal stromal tumor2Mar 21, 2019
Gaucher disease1Mar 21, 2019
Gaucher disease type I2May 27, 2021
Generalized juvenile polyposis/juvenile polyposis coli1Mar 21, 2019
Generalized pustular psoriasis1Apr 19, 2024
Glanzmann thrombasthenia4Apr 19, 2024
Glaucoma 3A2Apr 19, 2024
Glaucoma of childhood2Mar 21, 2019
Glomuvenous malformation2Mar 21, 2019
Glucocorticoid deficiency 21Aug 18, 2015
Glucocorticoid deficiency with achalasia1Mar 21, 2019
Glutamate formiminotransferase deficiency1Apr 19, 2024
Glutaric aciduria, type 15Apr 19, 2024
Glycogen storage disease15Apr 19, 2024
Glycogen storage disease type III2Apr 19, 2024
Glycogen storage disease, type I1May 27, 2021
Glycogen storage disease, type II12Apr 19, 2024
Glycogen storage disease, type V3Apr 19, 2024
Glycogen storage disease, type VI1Mar 6, 2015
Glycogen storage disease, type VII1Mar 6, 2015
Goldmann-Favre syndrome4May 27, 2021
Griscelli syndrome1Mar 21, 2019
Hb SS disease1Apr 19, 2024
Heart, malformation of3Mar 21, 2019
Hemolytic anemia due to glucophosphate isomerase deficiency1Mar 21, 2019
Hepatic methionine adenosyltransferase deficiency1Apr 19, 2024
Hepatic veno-occlusive disease-immunodeficiency syndrome1Mar 6, 2015
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11Mar 21, 2019
Hereditary angioneurotic edema1Mar 21, 2019
Hereditary ataxia1Mar 21, 2019
Hereditary breast ovarian cancer syndrome358Apr 19, 2024
Hereditary cancer-predisposing syndrome1Apr 19, 2024
Hereditary factor VIII deficiency disease5Apr 19, 2024
Hereditary factor XI deficiency disease3Apr 19, 2024
Hereditary fructosuria4Apr 19, 2024
Hereditary hemorrhagic telangiectasia5Apr 19, 2024
Hereditary intrinsic factor deficiency2Apr 19, 2024
Hereditary leiomyomatosis and renal cell cancer1Apr 19, 2024
Hereditary methemoglobinemia1Jun 3, 2020
Hereditary pancreatitis2May 27, 2021
Hereditary pheochromocytoma-paraganglioma28Apr 19, 2024
Hereditary spastic paraplegia10Apr 19, 2024
Hereditary spastic paraplegia 261Apr 19, 2024
Hereditary spastic paraplegia 5A1Mar 21, 2019
Hereditary spherocytosis1May 27, 2021
Hereditary von Willebrand disease10Apr 19, 2024
Hereditary xanthinuria type 12Mar 21, 2019
Hermansky-Pudlak syndrome4Apr 19, 2024
Hermansky-Pudlak syndrome 61Aug 18, 2015
Hidrotic ectodermal dysplasia syndrome1Mar 21, 2019
Holt-Oram syndrome1Mar 21, 2019
Homocystinuria without methylmalonic aciduria1Mar 21, 2019
Homozygous familial hypercholesterolemia130Apr 19, 2024
Hutchinson-Gilford syndrome2Mar 21, 2019
Hyaline body myopathy1Apr 19, 2024
Hyalinosis, Segmental Glomerular5May 27, 2021
Hydatidiform mole1Apr 19, 2024
Hydatidiform mole, recurrent, 21Aug 18, 2015
Hydrocephalus, nonsyndromic, autosomal recessive 21Aug 18, 2015
Hypercalcemia, infantile, 11Aug 18, 2015
Hypercholesterolemia, familial, 125Apr 19, 2024
Hyperekplexia 11Mar 21, 2019
Hyperimmunoglobulin D with periodic fever1Mar 21, 2019
Hyperlipidemia due to hepatic triglyceride lipase deficiency1Aug 18, 2015
Hyperphosphatasia-intellectual disability syndrome3Mar 21, 2019
Hypertrophic cardiomyopathy466Apr 19, 2024
Hypobetalipoproteinemia7Apr 19, 2024
Hypohidrotic X-linked ectodermal dysplasia51Apr 19, 2024
Hypohidrotic ectodermal dysplasia1Apr 19, 2024
Hypokalemic periodic paralysis1Apr 19, 2024
Hypomyelinating leukodystrophy 101May 14, 2020
Hypophosphatemic rickets1Mar 21, 2019
Hypothyroidism due to TSH receptor mutations1Mar 6, 2015
Hypotonia, infantile, with psychomotor retardation and characteristic facies1Mar 21, 2019
Hypotrichosis simplex2May 27, 2021
Ichthyosis vulgaris3Mar 21, 2019
Idiopathic and/or familial pulmonary arterial hypertension3May 27, 2021
Idiopathic bronchiectasis1Mar 21, 2019
Imerslund-Grasbeck syndrome3Mar 21, 2019
Immunodeficiency 231Mar 21, 2019
Immunodeficiency 27A1Aug 18, 2015
Inborn aminoacylase deficiency1Apr 19, 2024
Inborn disorder of lysine and hydroxylysine metabolism1Apr 19, 2024
Inborn mitochondrial myopathy2Apr 19, 2024
Infantile hypophosphatasia1May 27, 2021
Infantile liver failure2Mar 21, 2019
Inherited bleeding disorder, platelet-type2Apr 19, 2024
Inherited hemoglobinopathy1Apr 19, 2024
Inherited renal tubular disease1Apr 19, 2024
Intellectual disability7Apr 19, 2024
Intellectual disability, autosomal dominant 91Apr 19, 2024
Intellectual disability, autosomal recessive 571May 27, 2021
Interstitial lung disease 21Jun 3, 2020
Iodotyrosyl coupling defect1Aug 18, 2015
Isolated congenital hypogonadotropic hypogonadism2Apr 19, 2024
Isolated ectopia lentis2Apr 19, 2024
Jervell and Lange-Nielsen syndrome7Apr 19, 2024
Johanson-Blizzard syndrome2Apr 19, 2024
Joubert syndrome 21May 14, 2020
Joubert syndrome 71Aug 18, 2015
Junctional epidermolysis bullosa3May 27, 2021
Junctional epidermolysis bullosa with pyloric atresia1Aug 18, 2015
Junctional epidermolysis bullosa, non-Herlitz type1Aug 18, 2015
Juvenile hemochromatosis3Apr 19, 2024
Juvenile myelomonocytic leukemia16May 14, 2020
Juvenile neuronal ceroid lipofuscinosis1Apr 19, 2024
Juvenile polyposis syndrome1Apr 19, 2024
KBG syndrome3Apr 19, 2024
Kabuki syndrome 21Apr 19, 2024
Kleefstra syndrome1Apr 19, 2024
Kleefstra syndrome due to a point mutation1Mar 21, 2019
Knobloch syndrome2May 27, 2021
Lamellar ichthyosis1Mar 21, 2019
Laminopathy6Apr 19, 2024
Late-infantile neuronal ceroid lipofuscinosis1Mar 21, 2019
Leber congenital amaurosis7Apr 19, 2024
Leber congenital amaurosis 31Mar 6, 2015
Left ventricular noncompaction8Mar 21, 2019
Legius syndrome2Apr 19, 2024
Leigh syndrome2Apr 19, 2024
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1May 14, 2020
Leukocyte adhesion deficiency type II1Aug 18, 2015
Li-Fraumeni syndrome33Apr 19, 2024
Limb-girdle muscular dystrophy4Apr 19, 2024
Loeys-Dietz syndrome17Apr 19, 2024
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Mar 21, 2019
Lynch syndrome196Apr 19, 2024
Lysosomal acid lipase deficiency1Aug 18, 2015
MHC class II deficiency2Mar 21, 2019
MYH7-related skeletal myopathy2May 27, 2021
Macular corneal dystrophy1Mar 21, 2019
Male infertility with spermatogenesis disorder5Apr 19, 2024
Malignant hyperthermia of anesthesia28Apr 19, 2024
Mandibuloacral dysplasia1Apr 19, 2024
Maple syrup urine disease4Apr 19, 2024
Marfan syndrome171Apr 19, 2024
Maturity onset diabetes mellitus in young30Apr 19, 2024
Meckel-Gruber syndrome3Apr 19, 2024
Medium-chain acyl-coenzyme A dehydrogenase deficiency5Apr 19, 2024
Megalencephalic leukoencephalopathy with subcortical cysts1Apr 19, 2024
Meier-Gorlin syndrome2Mar 21, 2019
Melanoma2Jun 3, 2020
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1Apr 19, 2024
Merosin deficient congenital muscular dystrophy1Mar 6, 2015
Metachondromatosis1Mar 21, 2019
Metachromatic leukodystrophy1May 27, 2021
Methylcrotonyl-CoA carboxylase deficiency3Apr 19, 2024
Methylmalonic acidemia7Apr 19, 2024
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1Aug 18, 2015
Methylmalonic aciduria, cblB type1Aug 18, 2015
Microcephalic osteodysplastic primordial dwarfism type II1Mar 21, 2019
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2Apr 19, 2024
Microcephaly, normal intelligence and immunodeficiency2May 14, 2020
Microcephaly, short stature, and limb abnormalities1Apr 19, 2024
Miller syndrome1Mar 21, 2019
Mitochondrial DNA depletion syndrome4Mar 21, 2019
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1Mar 21, 2019
Mitochondrial complex I deficiency4Apr 19, 2024
Mitochondrial complex III deficiency nuclear type 11Aug 18, 2015
Mitochondrial neurogastrointestinal encephalomyopathy1Mar 21, 2019
Mitochondrial oxidative phosphorylation disorder5Mar 21, 2019
Mitochondrial proton-transporting ATP synthase complex deficiency1Mar 21, 2019
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1Apr 19, 2024
Morquio syndrome6Apr 19, 2024
Mucolipidosis4Mar 21, 2019
Mucolipidosis type II1Aug 18, 2015
Mucopolysaccharidosis type 12Mar 21, 2019
Mucopolysaccharidosis type 61Mar 6, 2015
Mucopolysaccharidosis, MPS-II1Apr 19, 2024
Mucopolysaccharidosis, MPS-III-C2Apr 19, 2024
Multiple congenital anomalies-hypotonia-seizures syndrome2Mar 21, 2019
Multiple endocrine neoplasia, type 15Apr 19, 2024
Multiple endocrine neoplasia, type 27Apr 19, 2024
Multiple mitochondrial dysfunctions syndrome 31May 14, 2020
Multiple sulfatase deficiency1Apr 19, 2024
Muscular dystrophy7Apr 19, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Mar 21, 2019
Myeloperoxidase deficiency1Mar 6, 2015
Myhre syndrome1May 14, 2020
Myopathy, proximal, and ophthalmoplegia1Aug 18, 2015
NAFLD11May 27, 2021
Nanophthalmia1May 14, 2020
Naxos disease2Apr 19, 2024
Nemaline myopathy7Apr 19, 2024
Neonatal diabetes mellitus with congenital hypothyroidism1Mar 21, 2019
Neonatal-onset encephalopathy with rigidity and seizures1Apr 19, 2024
Neoplasm of the large intestine1Mar 21, 2019
Nephrogenic diabetes insipidus1Apr 19, 2024
Nephronophthisis5Apr 19, 2024
Nephrotic syndrome, type 21Aug 18, 2015
Netherton syndrome2Mar 21, 2019
Neurodegeneration with brain iron accumulation 42Apr 19, 2024
Neurodevelopmental disorder16Apr 19, 2024
Neurofibromatosis, type 115Apr 19, 2024
Neurofibromatosis, type 21Apr 19, 2024
Neuromuscular disease24Apr 19, 2024
Neutral 1 amino acid transport defect1Mar 21, 2019
Niemann-Pick disease, type A1Mar 21, 2019
Niemann-Pick disease, type C7Apr 19, 2024
Non-ketotic hyperglycinemia4Apr 19, 2024
Non-small cell lung carcinoma74Apr 19, 2024
Non-syndromic X-linked intellectual disability1Apr 19, 2024
Non-syndromic male infertility due to sperm motility disorder1Mar 21, 2019
Nonsyndromic genetic hearing loss20Apr 19, 2024
Noonan syndrome169Apr 19, 2024
Noonan syndrome with multiple lentigines14Apr 19, 2024
Obesity due to melanocortin 4 receptor deficiency16Apr 19, 2024
Oculocutaneous albinism7Apr 19, 2024
Oculocutaneous albinism type 31Aug 18, 2015
Oocyte maturation defect 21May 27, 2021
Ornithine aminotransferase deficiency1Apr 19, 2024
Ornithine carbamoyltransferase deficiency2Apr 19, 2024
Orofacial-digital syndrome IV1Aug 18, 2015
Orthostatic hypotension 11Aug 18, 2015
Osteogenesis imperfecta type 71Aug 18, 2015
Osteopathia striata with cranial sclerosis1Mar 21, 2019
Ovarian neoplasm6Apr 26, 2016
PLA2G6-associated neurodegeneration2May 14, 2020
PMM2-congenital disorder of glycosylation2Apr 19, 2024
POLG-Related Spectrum Disorders2Mar 21, 2019
PTEN hamartoma tumor syndrome14Apr 19, 2024
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation1Mar 21, 2019
Papillon-Lefèvre syndrome1Mar 21, 2019
Parkinson disease2May 27, 2021
Partial congenital absence of teeth2Mar 21, 2019
Permanent neonatal diabetes mellitus1Apr 19, 2024
Peroxisome biogenesis disorder2Apr 19, 2024
Perrault syndrome1Apr 19, 2024
Persistent Mullerian duct syndrome1May 27, 2021
Phenylketonuria25Apr 19, 2024
Phytanic acid storage disease2Apr 19, 2024
Pierson syndrome2Apr 19, 2024
Pigmentary pallidal degeneration1Mar 21, 2019
Pigmentary retinal dystrophy1Aug 18, 2015
Pitt-Hopkins syndrome2Apr 19, 2024
Polycystic kidney disease3Apr 19, 2024
Polyglandular autoimmune syndrome, type 12Apr 19, 2024
Polyglucosan body myopathy type 22Mar 21, 2019
Polymerase proofreading-related adenomatous polyposis1Apr 19, 2024
Pontoneocerebellar hypoplasia3Apr 19, 2024
Porokeratosis 7, multiple types1Apr 19, 2024
Posterior column ataxia-retinitis pigmentosa syndrome1Apr 19, 2024
Preimplantation embryonic lethality 21Apr 19, 2024
Primary ciliary dyskinesia32Apr 19, 2024
Primary ciliary dyskinesia 72Aug 18, 2015
Primary degenerative dementia of the Alzheimer type, presenile onset2Jun 3, 2020
Primary dilated cardiomyopathy348Apr 19, 2024
Primary hyperoxaluria type 32Mar 21, 2019
Primary hyperoxaluria, type I1Mar 21, 2019
Primary hyperoxaluria, type II1Mar 21, 2019
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies4Mar 21, 2019
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11Aug 18, 2015
Progressive familial intrahepatic cholestasis type 31Aug 18, 2015
Progressive pseudorheumatoid dysplasia1Mar 21, 2019
Prolidase deficiency1Mar 21, 2019
Propionic acidemia2Apr 19, 2024
Proximal myopathy with extrapyramidal signs1May 27, 2021
Pseudohypoaldosteronism, type IB1, autosomal recessive1May 27, 2021
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1Apr 19, 2024
Pulmonary venoocclusive disease 11Mar 21, 2019
Purine-nucleoside phosphorylase deficiency1Mar 21, 2019
Pyridoxal phosphate-responsive seizures1Apr 19, 2024
Pyridoxine-dependent epilepsy1Apr 19, 2024
Pyruvate kinase deficiency of red cells1Apr 19, 2024
Qualitative or quantitative defects of collagen 61Mar 21, 2019
Qualitative or quantitative defects of dysferlin2Apr 19, 2024
Radial aplasia-thrombocytopenia syndrome2Apr 19, 2024
Rare genetic deafness812Apr 19, 2024
Rare isolated myopia1Mar 21, 2019
Rare syndromic intellectual disability4Apr 19, 2024
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Mar 21, 2019
Renal carnitine transport defect2Mar 21, 2019
Renal dysplasia and retinal aplasia1Mar 21, 2019
Renal tubular dysgenesis2May 27, 2021
Restrictive cardiomyopathy8Jun 3, 2020
Reticular dysgenesis1Mar 21, 2019
Retinal cone dystrophy 41Aug 18, 2015
Retinitis pigmentosa12Apr 19, 2024
Retinitis pigmentosa 252Aug 18, 2015
Retinitis pigmentosa 411Aug 18, 2015
Retinoblastoma4Apr 19, 2024
Rett syndrome1Mar 21, 2019
Rhizomelic chondrodysplasia punctata type 21Mar 21, 2019
Rhizomelic chondrodysplasia punctata type 31May 27, 2021
Rippling muscle disease 21Mar 21, 2019
Roberts-SC phocomelia syndrome1Aug 18, 2015
Rothmund-Thomson syndrome1Mar 21, 2019
Rubinstein-Taybi syndrome1May 14, 2020
Seckel syndrome1Mar 21, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency2Mar 21, 2019
Severe intellectual disability-progressive spastic diplegia syndrome1May 14, 2020
Short rib-polydactyly syndrome2Apr 19, 2024
Short stature, microcephaly, and endocrine dysfunction2May 27, 2021
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Mar 6, 2015
Short-rib thoracic dysplasia 10 with or without polydactyly1Aug 18, 2015
Short-rib thoracic dysplasia 6 with or without polydactyly1Aug 18, 2015
Shwachman syndrome1Apr 19, 2024
Shwachman-Diamond syndrome 11Mar 21, 2019
Sitosterolemia3May 27, 2021
Situs inversus1Apr 19, 2024
Sjögren-Larsson syndrome1Mar 21, 2019
Skin fragility-woolly hair-palmoplantar keratoderma syndrome1Apr 19, 2024
Smith-Lemli-Opitz syndrome3Apr 19, 2024
Sotos syndrome1Apr 19, 2024
Spastic paraplegia-Paget disease of bone syndrome1Mar 21, 2019
Spinal muscular atrophy1Apr 19, 2024
Spinal muscular atrophy with congenital bone fractures 11Apr 19, 2024
Spondyloepimetaphyseal dysplasia, PAPSS2 type1Aug 18, 2015
Spondyloepiphyseal dysplasia1Mar 21, 2019
Spondyloepiphyseal dysplasia with congenital joint dislocations1Apr 19, 2024
Spondyloperipheral dysplasia1Aug 18, 2015
Spongy degeneration of central nervous system4Apr 19, 2024
Stargardt disease14Apr 19, 2024
Stickler syndrome2Apr 19, 2024
Stuve-Wiedemann syndrome2Mar 21, 2019
Succinate-semialdehyde dehydrogenase deficiency1Mar 21, 2019
Sucrase-isomaltase deficiency4Apr 19, 2024
Sudden cardiac failure, infantile1May 27, 2021
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1Aug 18, 2015
Supravalvar aortic stenosis26Apr 19, 2024
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency1Apr 19, 2024
Tatton-Brown-Rahman overgrowth syndrome1Apr 19, 2024
Tay-Sachs disease3Apr 19, 2024
Testosterone 17-beta-dehydrogenase deficiency1Mar 21, 2019
Thyroid hormone metabolism, abnormal 11May 27, 2021
Trichohepatoenteric syndrome1Mar 21, 2019
Triosephosphate isomerase deficiency1Mar 21, 2019
Tuberous sclerosis syndrome29Apr 19, 2024
Tyrosinase-positive oculocutaneous albinism6Apr 19, 2024
Tyrosine kinase inhibitor response53Apr 26, 2016
Tyrosinemia type I2Mar 21, 2019
Undetermined early-onset epileptic encephalopathy2Apr 19, 2024
Upshaw-Schulman syndrome2May 27, 2021
Usher syndrome28Apr 19, 2024
Usher syndrome type 2A2Aug 18, 2015
Van Maldergem syndrome1Mar 21, 2019
Vanishing white matter disease2Jun 3, 2020
Variegate porphyria1Mar 6, 2015
Venous thromboembolism1Jun 3, 2020
Very long chain acyl-CoA dehydrogenase deficiency6Apr 19, 2024
Vici syndrome1Mar 21, 2019
Visceral heterotaxy2Mar 21, 2019
Vitamin D-dependent rickets, type 11Apr 19, 2024
Von Hippel-Lindau syndrome21Apr 19, 2024
Waardenburg syndrome4Jun 3, 2020
Walker-Warburg congenital muscular dystrophy5Apr 19, 2024
Warburg micro syndrome 21Aug 18, 2015
Warfarin response5Jan 29, 2015
Weill-Marchesani syndrome1Mar 21, 2019
Werner syndrome2Mar 21, 2019
Wilson disease84Apr 19, 2024
Wolfram syndrome1Apr 19, 2024
Wolfram syndrome 14May 14, 2020
X-linked agammaglobulinemia1Apr 19, 2024
X-linked severe congenital neutropenia1Mar 21, 2019
Xeroderma pigmentosum5Apr 19, 2024
Xeroderma pigmentosum, group G1Aug 18, 2015
Young-onset Parkinson disease11Apr 19, 2024
Zellweger spectrum disorders3Apr 19, 2024
alpha Thalassemia9Apr 19, 2024
beta Thalassemia21Apr 19, 2024
not provided282Apr 19, 2024
not specified20975Apr 19, 2024

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 21 test
Alport syndrome1 test
Alstrom syndrome1 test
Amyloidosis, hereditary systemic 12 tests
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Atrial fibrillation, familial, 121 test
Auditory neuropathy1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Becker muscular dystrophy1 test
Branchiootorenal Spectrum Disorders1 test
Brown-Vialetto-van Laere syndrome 11 test
Brugada syndrome 11 test
CHARGE syndrome1 test
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 51 test
Centronuclear myopathy1 test
Chudley-McCullough syndrome1 test
Cone-rod dystrophy and hearing loss1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Danon disease1 test
Deafness dystonia syndrome1 test
Desmin-related myofibrillar myopathy1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1NN1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 2B1 test
Dilated cardiomyopathy 3B1 test
Distal myopathy, Tateyama type1 test
Duchenne muscular dystrophy1 test
Early-onset myopathy with fatal cardiomyopathy1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Enlarged vestibular aqueduct syndrome1 test
Fabry disease1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Hereditary disease2 tests
Hereditary hearing loss and deafness2 tests
Hypertrophic cardiomyopathy1 test
Hypertrophic cardiomyopathy 11 test
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Jervell and Lange-Nielsen syndrome1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 101 test
Left ventricular noncompaction 81 test
Lethal congenital glycogen storage disease of heart1 test
MYH7-related skeletal myopathy1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Mutilating keratoderma1 test
Myofibrillar myopathy 21 test
Myofibrillar myopathy 41 test
Myofibrillar myopathy 61 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myosin storage myopathy1 test
Naxos disease1 test
Noonan syndrome 11 test
Noonan syndrome 51 test
Palmoplantar keratoderma-deafness syndrome1 test
Pendred syndrome1 test
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Primary dilated cardiomyopathy1 test
Rippling muscle disease1 test
Rippling muscle disease 21 test
Tibial muscular dystrophy1 test
Usher syndrome1 test
Waardenburg syndrome1 test
Wolff-Parkinson-White pattern1 test
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked dystonia-parkinsonism1 test
X-linked mixed hearing loss with perilymphatic gusher1 test