Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine), LMM

General information

Laboratory for Molecular Medicine, LMM
Partners HealthCare Personalized Medicine
65 Landsdowne Street
Cambridge
Massachusetts
United States - 02139-4232
http://www.partners.org/personalizedmedicine/lmm
Organization ID: 21766

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 24470

Gene

GeneSubmissionsLast Updated
A2M1Apr 3, 2017
AAAS1Mar 21, 2019
AARS21Mar 21, 2019
ABCA101Apr 3, 2017
ABCA131Apr 3, 2017
ABCA333Jun 3, 2020
ABCA412May 27, 2021
ABCB111Apr 3, 2017
ABCB42Apr 3, 2017
ABCC22May 14, 2020
ABCC65Mar 21, 2019
ABCC81Apr 3, 2017
ABCC9101May 27, 2021
ABCG52May 27, 2021
ABCG81Mar 21, 2019
ACACB1Apr 3, 2017
ACADM5May 27, 2021
ACADS1Mar 21, 2019
ACADVL1Mar 21, 2019
ACAN1Apr 3, 2017
ACBD61Mar 6, 2015
ACE1Aug 18, 2015
ACKR11Mar 21, 2019
ACOX11Aug 18, 2015
ACP53Apr 3, 2017
ACR2Apr 3, 2017
ACSF31Mar 21, 2019
ACTA16Mar 21, 2019
ACTA27May 27, 2021
ACTA2-AS12May 27, 2021
ACTB1May 14, 2020
ACTC146May 27, 2021
ACTG174May 14, 2020
ACTN2117May 27, 2021
ACTR3C1Apr 3, 2017
ACVR2B3Apr 3, 2017
ACVRL17Mar 21, 2019
ADA7Mar 21, 2019
ADA24Apr 3, 2017
ADAM331Apr 3, 2017
ADAMTS134May 27, 2021
ADAMTSL42May 27, 2021
ADAMTSL4-AS21Mar 21, 2019
ADAR1Mar 21, 2019
ADCY121Jun 3, 2020
ADCY101Apr 3, 2017
ADGRG11Mar 6, 2015
ADGRV1495May 27, 2021
ADH1C1Apr 3, 2017
ADSL2Mar 21, 2019
AGA2Apr 3, 2017
AGGF11Apr 3, 2017
AGL3May 27, 2021
AGPS1May 27, 2021
AGRN1Mar 21, 2019
AGTR11May 27, 2021
AGXT2Mar 21, 2019
AGXT21Apr 3, 2017
AHCY1May 14, 2020
AHDC11Apr 3, 2017
AHI11May 27, 2021
AHNAK25Apr 3, 2017
AICDA3Apr 3, 2017
AIP2Mar 21, 2019
AIRE2May 14, 2020
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
ALDH7A11Mar 21, 2019
ALDOB1Mar 21, 2019
ALG12May 27, 2021
ALK7Apr 3, 2017
ALMS1134May 27, 2021
ALOX12B2Apr 3, 2017
ALOXE31Mar 21, 2019
ALPK37May 14, 2020
ALPL3May 27, 2021
ALS2CL1Apr 3, 2017
AMER11Mar 21, 2019
AMH1Apr 3, 2017
AMHR21May 27, 2021
AMT1Aug 18, 2015
ANAPC11Apr 3, 2017
ANAPC158Mar 21, 2019
ANK11Apr 3, 2017
ANK22Mar 21, 2019
ANKLE12Apr 3, 2017
ANKRD128Jun 3, 2020
ANKRD111Mar 21, 2019
ANKRD491Apr 3, 2017
ANO101Mar 21, 2019
ANO57Mar 21, 2019
ANTXR11Mar 21, 2019
AOPEP1Mar 21, 2019
AP1S31Apr 3, 2017
AP2S11Mar 21, 2019
AP3B119Mar 21, 2019
AP5Z11Apr 3, 2017
APC90May 27, 2021
APOB36May 27, 2021
APOE2Mar 21, 2019
APOL16May 27, 2021
APP1Jun 3, 2020
APTX7May 14, 2020
AQP21Mar 21, 2019
AQP5-AS11Mar 21, 2019
AQP76Apr 3, 2017
AR1Apr 3, 2017
ARHGAP312Apr 3, 2017
ARHGAP42Apr 3, 2017
ARHGAP61Apr 3, 2017
ARID1B2May 14, 2020
ARIH11Apr 3, 2017
ARL13B1May 27, 2021
ARL17B1Apr 3, 2017
ARL2BP1Apr 3, 2017
ARMC51Mar 21, 2019
ARSA1May 27, 2021
ARSB1Mar 6, 2015
ARSL1Mar 6, 2015
ASAH16Mar 21, 2019
ASB102Apr 3, 2017
ASCL19Mar 21, 2019
ASL1Mar 21, 2019
ASPA3Mar 21, 2019
ASPM2Mar 21, 2019
ASS11Mar 21, 2019
ASTN22Mar 21, 2019
ASXL11May 27, 2021
ASXL31Mar 21, 2019
ATF62May 14, 2020
ATG9B2Apr 3, 2017
ATM6May 14, 2020
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
ATP7A1Apr 3, 2017
ATP7B6Jun 3, 2020
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
BAAT1Apr 3, 2017
BAG365Mar 21, 2019
BAIAP2L12Apr 3, 2017
BARD13Apr 3, 2017
BBS13Mar 21, 2019
BBS103Mar 21, 2019
BBS21Aug 18, 2015
BCAN1Apr 3, 2017
BCAN-AS11Apr 3, 2017
BCHE2May 27, 2021
BCKDHA1Mar 21, 2019
BCL102Apr 3, 2017
BCL9L7Apr 3, 2017
BCLAF16Apr 3, 2017
BCS1L10May 27, 2021
BDNF4Mar 21, 2019
BDNF-AS2Mar 21, 2019
BDNF-AS12Mar 21, 2019
BEST12Mar 21, 2019
BICD12Apr 3, 2017
BICRA1Apr 3, 2017
BIN17Mar 21, 2019
BIVM-ERCC52Mar 21, 2019
BLK1Apr 3, 2017
BLM7May 27, 2021
BLNK2Apr 3, 2017
BLOC1S1-RDH51Aug 18, 2015
BLOC1S36Mar 21, 2019
BMP14Mar 21, 2019
BMPER1Apr 3, 2017
BMPR1A4Mar 21, 2019
BMPR25May 27, 2021
BNC21Apr 3, 2017
BPI5Apr 3, 2017
BRAF107May 14, 2020
BRCA196May 27, 2021
BRCA2147May 27, 2021
BRI32Apr 3, 2017
BRIP14Mar 21, 2019
BSND34Jun 3, 2020
BTBD71Apr 3, 2017
BTD4May 27, 2021
BTK3Apr 3, 2017
BUB1B2Apr 3, 2017
C10orf10554Jun 3, 2020
C11orf652May 14, 2020
C12orf603Apr 3, 2017
C17orf1073Mar 21, 2019
C19orf121Mar 21, 2019
C19orf711Apr 3, 2017
C1S3Apr 3, 2017
C26Apr 3, 2017
C2-AS12Apr 3, 2017
C21orf581Apr 3, 2017
C4B1Apr 3, 2017
C4BPA2Apr 3, 2017
C4BPB4Apr 3, 2017
C59Mar 21, 2019
C65Mar 21, 2019
C6orf892May 14, 2020
C8A5Apr 3, 2017
C8B2Mar 21, 2019
C92Apr 3, 2017
CABP210May 27, 2021
CACNA1A3Mar 21, 2019
CACNA1C4Mar 21, 2019
CACNA1C-AS13Apr 3, 2017
CACNA1D94May 27, 2021
CACNA1F2Apr 3, 2017
CACNA1S7Apr 3, 2017
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
CAVIN419May 14, 2020
CBL55May 14, 2020
CBLIF2Mar 21, 2019
CBS10Jun 3, 2020
CC2D1A1Mar 21, 2019
CC2D2A1Mar 21, 2019
CCBE11Apr 3, 2017
CCDC1035Mar 21, 2019
CCDC1151May 27, 2021
CCDC1401Mar 21, 2019
CCDC3921May 14, 2020
CCDC4044May 14, 2020
CCDC5036Jun 3, 2020
CCDC656Mar 21, 2019
CCDC661Apr 3, 2017
CCDC85C3Apr 3, 2017
CCN61Mar 21, 2019
CCNF1Jun 3, 2020
CCNK3Apr 3, 2017
CCNO2May 14, 2020
CCP1106Apr 3, 2017
CD1643Mar 21, 2019
CD192Apr 3, 2017
CD2071Apr 3, 2017
CD272Apr 3, 2017
CD27-AS12Apr 3, 2017
CD2AP1Apr 3, 2017
CD361May 27, 2021
CD3E1Apr 3, 2017
CD3G2Apr 3, 2017
CD401Apr 3, 2017
CD461Mar 21, 2019
CD79B1Apr 3, 2017
CD8A3Apr 3, 2017
CDAN11Mar 21, 2019
CDC14A21May 27, 2021
CDCA7L3Mar 21, 2019
CDH14Apr 3, 2017
CDH23543May 27, 2021
CDH23-AS115Mar 21, 2019
CDHR11Mar 21, 2019
CDKN1B1Apr 3, 2017
CDKN1C1Apr 3, 2017
CDKN2A3Apr 3, 2017
CDT11Mar 21, 2019
CDYL1Apr 3, 2017
CEACAM1638May 14, 2020
CELA12Apr 3, 2017
CEMIP22Mar 21, 2019
CENPJ2Mar 21, 2019
CEP1521Mar 21, 2019
CEP1641Apr 3, 2017
CEP7823Jun 3, 2020
CEP85L13Mar 21, 2019
CERS13Apr 3, 2017
CFAP2512Apr 3, 2017
CFB3Apr 3, 2017
CFD1Apr 3, 2017
CFHR52Mar 21, 2019
CFI1Apr 3, 2017
CFP1Apr 3, 2017
CFTR54May 27, 2021
CFTR-AS114Jun 3, 2020
CHAT7Mar 21, 2019
CHD768May 27, 2021
CHEK22May 27, 2021
CHI3L21Apr 3, 2017
CHPT11Mar 21, 2019
CHRM210Mar 21, 2019
CHRNA11Mar 21, 2019
CHRND1Apr 3, 2017
CHRNE4Mar 21, 2019
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
CLDN163Mar 21, 2019
CLEC4D1Apr 3, 2017
CLEC7A2Apr 3, 2017
CLIC522Jun 3, 2020
CLNK2Apr 3, 2017
CLPP17May 27, 2021
CLPS1Apr 3, 2017
CLPTM1L1Apr 3, 2017
CLRN121Mar 21, 2019
CLRN1-AS13Mar 21, 2019
CLTCL11Apr 3, 2017
CNGA11Mar 21, 2019
CNGA34Mar 21, 2019
CNGB31Mar 21, 2019
CNOT11Apr 3, 2017
CNTN61Apr 3, 2017
CNTNAP3B1Apr 3, 2017
COCH29Jun 3, 2020
COG41Aug 18, 2015
COG51Apr 3, 2017
COG65Apr 3, 2017
COL11A11Apr 3, 2017
COL11A2156May 27, 2021
COL17A12Mar 21, 2019
COL18A14May 27, 2021
COL1A21Apr 3, 2017
COL2A13Mar 21, 2019
COL3A119May 27, 2021
COL4A356May 27, 2021
COL4A466Jun 3, 2020
COL4A523May 27, 2021
COL5A11Apr 3, 2017
COL5A21Apr 3, 2017
COL6A11Apr 3, 2017
COL6A23Mar 21, 2019
COL6A31Apr 3, 2017
COL6A51Apr 3, 2017
COL7A14May 14, 2020
COL9A31Apr 3, 2017
COLEC112Apr 3, 2017
COLQ1Mar 21, 2019
COQ21Apr 3, 2017
COQ8A2May 14, 2020
CORO1A1Apr 3, 2017
CP2Mar 21, 2019
CPLANE12May 27, 2021
CPN11Apr 3, 2017
CPT1A1Mar 21, 2019
CPT21Mar 21, 2019
CR26Apr 3, 2017
CRB12Mar 21, 2019
CREB3L11Apr 3, 2017
CRPPA4Mar 21, 2019
CRTAP1Aug 18, 2015
CRYAB15Mar 21, 2019
CRYGC1Apr 3, 2017
CRYM12Mar 21, 2019
CSF2RA15Mar 21, 2019
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
CTC12Mar 21, 2019
CTF118Mar 21, 2019
CTLA41Apr 3, 2017
CTNNB12May 14, 2020
CTNS4Mar 21, 2019
CTPS11Apr 3, 2017
CTSA3Apr 3, 2017
CTSC5Mar 21, 2019
CTSG1Apr 3, 2017
CTU21Apr 3, 2017
CUBN5Mar 21, 2019
CUL31Mar 21, 2019
CUZD12Apr 3, 2017
CYB5R31Jun 3, 2020
CYP11A11May 14, 2020
CYP11B12Mar 21, 2019
CYP11B26May 14, 2020
CYP17A11Mar 21, 2019
CYP1B15Mar 21, 2019
CYP21A23Mar 21, 2019
CYP24A13Mar 21, 2019
CYP26C11Mar 21, 2019
CYP27A12Mar 21, 2019
CYP2C81Apr 3, 2017
CYP2C93Jan 29, 2015
CYP2E12Apr 3, 2017
CYP2F11Apr 3, 2017
CYP2R11May 14, 2020
CYP3A41Mar 21, 2019
CYP4B11Apr 3, 2017
CYP4V23May 14, 2020
CYP7B11Mar 21, 2019
DAG14Mar 21, 2019
DBH1Aug 18, 2015
DBT1Mar 21, 2019
DCLRE1C4Apr 3, 2017
DEFB1262Apr 3, 2017
DES71Jun 3, 2020
DGAT13Apr 3, 2017
DGUOK1Mar 21, 2019
DHCR77May 27, 2021
DHDDS1Mar 21, 2019
DHFR2Apr 3, 2017
DHODH2Mar 21, 2019
DIABLO14May 14, 2020
DIAPH162Jun 3, 2020
DICER13May 14, 2020
DKC11Apr 3, 2017
DMD107Jun 3, 2020
DMP11Mar 21, 2019
DMPK1Apr 3, 2017
DMXL11Apr 3, 2017
DNAAF129May 14, 2020
DNAAF111Apr 3, 2017
DNAAF218May 14, 2020
DNAAF316Mar 21, 2019
DNAAF45Mar 21, 2019
DNAAF4-CCPG15Mar 21, 2019
DNAAF54Apr 3, 2017
DNAH114Mar 21, 2019
DNAH1018Apr 3, 2017
DNAH11114May 27, 2021
DNAH1214Apr 3, 2017
DNAH1425Apr 3, 2017
DNAH1736Apr 3, 2017
DNAH17-AS19Apr 3, 2017
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
DNAJB61Mar 21, 2019
DNAJC111Apr 3, 2017
DNAL14Mar 21, 2019
DNAL41Apr 3, 2017
DNASE1L14Mar 21, 2019
DNM22Mar 21, 2019
DNMT3B6Apr 3, 2017
DOCK61Mar 21, 2019
DOCK846May 14, 2020
DOCK91Apr 3, 2017
DOK71Mar 21, 2019
DOLK19Mar 21, 2019
DOP1A1Mar 21, 2019
DPAGT11Mar 21, 2019
DPY19L21Apr 3, 2017
DRC19Mar 21, 2019
DSC297May 27, 2021
DSC31Apr 3, 2017
DSCAS8Mar 21, 2019
DSG13Apr 3, 2017
DSG1-AS11Apr 3, 2017
DSG2118Jun 3, 2020
DSG2-AS147Jun 3, 2020
DSP290May 27, 2021
DSPP1Apr 3, 2017
DST2Apr 3, 2017
DTNA44May 14, 2020
DTNBP19Mar 21, 2019
DUOX11Apr 3, 2017
DUOX24May 27, 2021
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
DYRK1A1Mar 21, 2019
DYSF25Mar 21, 2019
EDA71Mar 21, 2019
EDAR6Mar 21, 2019
EDARADD1Aug 18, 2015
EDN311Mar 21, 2019
EDNRB28May 14, 2020
EDNRB-AS118May 14, 2020
EEA11Apr 3, 2017
EFCAB101Apr 3, 2017
EFEMP26Mar 21, 2019
EFHC11Apr 3, 2017
EGFR147May 14, 2020
EGFR-AS145Feb 23, 2018
EIF2AK412Mar 21, 2019
EIF2B21Jun 3, 2020
EIF2B51May 14, 2020
ELAC21Apr 3, 2017
ELANE1Mar 21, 2019
ELF41Apr 3, 2017
ELMOD24Mar 21, 2019
ELN43Mar 21, 2019
ELN-AS17Mar 21, 2019
ELP11Jun 3, 2020
EMD19Mar 21, 2019
EML51Apr 3, 2017
EN11Apr 3, 2017
ENG19Mar 21, 2019
ENPP12Mar 21, 2019
ENTPD51Apr 3, 2017
EP3002May 14, 2020
EPB41L11Apr 3, 2017
EPCAM3Mar 21, 2019
EPG55Mar 21, 2019
EPOR1May 14, 2020
EPS826Jun 3, 2020
ERAP11Apr 3, 2017
ERBB214Mar 21, 2019
ERCC28May 27, 2021
ERCC41Apr 3, 2017
ERCC52Mar 21, 2019
ERCC61May 27, 2021
ERCC6-PGBD31May 27, 2021
ERCC81May 27, 2021
ERN11Apr 3, 2017
ESCO21Aug 18, 2015
ESPN31May 27, 2021
ESRRB53May 14, 2020
ETFB1Apr 3, 2017
ETV61Mar 21, 2019
EVC22May 27, 2021
EVI2A1Apr 3, 2017
EVI54Apr 3, 2017
EXD31Apr 3, 2017
EXOSC31Mar 21, 2019
EYA162Jun 3, 2020
EYA450May 27, 2021
EYS5May 27, 2021
F112May 27, 2021
F124Mar 21, 2019
F21Jun 3, 2020
F53Jun 3, 2020
F72May 27, 2021
F84May 14, 2020
FA2H1May 14, 2020
FAH2Mar 21, 2019
FAM205A2Apr 3, 2017
FAM20C4Mar 21, 2019
FAM24B-CUZD12Apr 3, 2017
FAM83H1Apr 3, 2017
FANCA1Aug 18, 2015
FANCB1Apr 3, 2017
FANCC2Mar 21, 2019
FANCD21Mar 21, 2019
FANCE1Mar 21, 2019
FANCF1Aug 18, 2015
FANCG1Mar 21, 2019
FANCI1Apr 3, 2017
FANCL1Mar 21, 2019
FAS1Apr 3, 2017
FAT49Mar 21, 2019
FBLN56Mar 21, 2019
FBN1267May 27, 2021
FBN223May 14, 2020
FBXL42Mar 21, 2019
FCGR2A6Apr 3, 2017
FCGR3A6Apr 3, 2017
FCGR3B1Apr 3, 2017
FCN11Apr 3, 2017
FCRL61Apr 3, 2017
FDXR1Mar 21, 2019
FECH4May 14, 2020
FERMT34Apr 3, 2017
FGB1Mar 21, 2019
FGD14May 14, 2020
FGF232Mar 21, 2019
FGG2May 27, 2021
FH2Apr 3, 2017
FHL230Mar 21, 2019
FIG42May 27, 2021
FIP1L11Mar 21, 2019
FKBP141Apr 3, 2017
FKBP14-AS11Apr 3, 2017
FKRP3Mar 21, 2019
FKTN4Mar 21, 2019
FLACC11Apr 3, 2017
FLCN10May 27, 2021
FLG7Mar 21, 2019
FLG-AS11Mar 21, 2019
FLNC23Mar 21, 2019
FLNC-AS13Mar 21, 2019
FLT43Apr 3, 2017
FLVCR21Mar 21, 2019
FMO21Apr 3, 2017
FOCAD3Apr 3, 2017
FOXE31Mar 21, 2019
FOXF13Mar 21, 2019
FOXN15Apr 3, 2017
FOXP11May 14, 2020
FOXP31Apr 3, 2017
FOXRED11Aug 18, 2015
FPR16Apr 3, 2017
FREM21Mar 21, 2019
FRG2B2Apr 3, 2017
FRMPD41Apr 3, 2017
FRYL1Jun 3, 2020
FSCN21Apr 3, 2017
FSIP11Apr 3, 2017
FTCD1Apr 3, 2017
FUBP11Apr 3, 2017
FUCA11Apr 3, 2017
FUS1Apr 3, 2017
FUT82Apr 3, 2017
FZD43Mar 21, 2019
G6PC12May 27, 2021
G6PC31Apr 3, 2017
G6PD4Mar 21, 2019
GAA11May 27, 2021
GABRA41Apr 3, 2017
GALC1Mar 21, 2019
GALE1Apr 3, 2017
GALNS2Mar 21, 2019
GALT1Mar 21, 2019
GAREM21Mar 21, 2019
GAS85Apr 3, 2017
GATA23Apr 3, 2017
GATA32Mar 21, 2019
GATA46May 14, 2020
GATAD119Mar 21, 2019
GBA5May 27, 2021
GBE11May 27, 2021
GCH11Apr 3, 2017
GCK3Mar 21, 2019
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
GIPC348Jun 3, 2020
GJB2117Jun 3, 2020
GJB322Mar 21, 2019
GJB615Mar 21, 2019
GJC22Apr 3, 2017
GJD2-DT46May 27, 2021
GLA48Jun 3, 2020
GLB11Mar 21, 2019
GLDC2Mar 21, 2019
GLIS31Mar 21, 2019
GLMN2Mar 21, 2019
GLRA12Mar 21, 2019
GML2Mar 21, 2019
GMPPB2Jun 3, 2020
GNA111Mar 21, 2019
GNAS1Mar 21, 2019
GNB11May 14, 2020
GNE1Mar 21, 2019
GNPAT1Mar 21, 2019
GNPTAB2Mar 21, 2019
GNPTG3Mar 21, 2019
GNRHR1Mar 21, 2019
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
GRIP11Mar 21, 2019
GRXCR128May 14, 2020
GSAP1Apr 3, 2017
GSDMA1Apr 3, 2017
GSDMD1Apr 3, 2017
GSDME44May 14, 2020
GUCY2C3Apr 3, 2017
GUCY2D2Apr 3, 2017
GUSB1Apr 3, 2017
GYG13May 14, 2020
GYPE1Apr 3, 2017
GYS22Mar 21, 2019
H6PD1Apr 3, 2017
HADHA1Mar 21, 2019
HADHB1Apr 3, 2017
HARS115May 27, 2021
HARS222Mar 21, 2019
HAVCR11Apr 3, 2017
HBA21Apr 3, 2017
HBB2May 14, 2020
HBG11Apr 3, 2017
HCN23Apr 3, 2017
HCN42Apr 3, 2017
HDAC94Apr 3, 2017
HEATR11Apr 3, 2017
HERC23Apr 3, 2017
HESX11Mar 21, 2019
HEXA3Mar 21, 2019
HEXB1Apr 3, 2017
HEXD3Apr 3, 2017
HFE3Jun 3, 2020
HFE-AS11Jun 3, 2020
HGF29May 27, 2021
HIBCH2May 14, 2020
HIVEP14Apr 3, 2017
HIVEP21Apr 3, 2017
HIVEP38Apr 3, 2017
HJV1Mar 6, 2015
HLCS2Apr 3, 2017
HNF1A7May 27, 2021
HNF1B1Apr 3, 2017
HNF4A3May 14, 2020
HNRNPH21May 14, 2020
HOGA13Mar 21, 2019
HOPX2Mar 21, 2019
HOXA21May 27, 2021
HPS117May 14, 2020
HPS312Mar 21, 2019
HPS416May 14, 2020
HPS513Mar 21, 2019
HPS68Mar 21, 2019
HR2Mar 21, 2019
HRAS43Mar 21, 2019
HS6ST11Apr 3, 2017
HSD17B31Mar 21, 2019
HSD17B3-AS11Mar 21, 2019
HSD17B442May 27, 2021
HSD3B21Mar 21, 2019
HSPD11Apr 3, 2017
HSPH13Mar 21, 2019
HTT2Apr 3, 2017
HYDIN7Apr 3, 2017
IBA571May 14, 2020
ICOS3Mar 21, 2019
IDH12Apr 3, 2017
IDUA2Mar 21, 2019
IFNAR21Apr 3, 2017
IFNG1Apr 3, 2017
IFNGR14Apr 3, 2017
IFNGR21Apr 3, 2017
IFT1722May 14, 2020
IFT521Apr 3, 2017
IFT883Apr 3, 2017
IGF11Apr 3, 2017
IGHMBP211Mar 21, 2019
IGSF31Apr 3, 2017
IKBKB1Apr 3, 2017
IL10RA2Apr 3, 2017
IL10RB2Apr 3, 2017
IL11RA1Apr 3, 2017
IL12RB18Apr 3, 2017
IL17F1Apr 3, 2017
IL17RA5Apr 3, 2017
IL1RN4Apr 3, 2017
IL20RA2Apr 3, 2017
IL212Apr 3, 2017
IL21-AS11Apr 3, 2017
IL21R1Apr 3, 2017
IL23A1Apr 3, 2017
IL2RA2Apr 3, 2017
IL36RN1Mar 21, 2019
IL7R5Apr 3, 2017
ILDR162May 27, 2021
ILK12Mar 21, 2019
IMPG12May 27, 2021
INF21Apr 3, 2017
INHA1Apr 3, 2017
INMT1Apr 3, 2017
INMT-MINDY41Apr 3, 2017
INSL62Apr 3, 2017
INSR2Apr 3, 2017
INVS2Mar 21, 2019
IQCB11Mar 21, 2019
IRAK41Apr 3, 2017
IRF2BP24Apr 3, 2017
IRS11Apr 3, 2017
ISG151Apr 3, 2017
ITGA71Apr 3, 2017
ITGA93Apr 3, 2017
ITGB26Apr 3, 2017
ITGB41Aug 18, 2015
ITGB61Mar 21, 2019
JAG114Mar 21, 2019
JAG21Apr 3, 2017
JAK22Apr 3, 2017
JAK32Apr 3, 2017
JPH230May 27, 2021
JUP78Jun 3, 2020
KANK11Apr 3, 2017
KARS131May 27, 2021
KAT6B5May 27, 2021
KCNA52Apr 3, 2017
KCNE132May 27, 2021
KCNE21Mar 21, 2019
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TPRN20Jun 3, 2020
TPSB22Apr 3, 2017
TPTE21Apr 3, 2017
TRAF11Apr 3, 2017
TRAF3IP23Apr 3, 2017
TRAF3IP2-AS13Apr 3, 2017
TRAPPC111Mar 21, 2019
TRB3Mar 21, 2019
TRDN47May 14, 2020
TRDN-AS11Mar 21, 2019
TREX12Apr 3, 2017
TRIM322Mar 21, 2019
TRIO1May 14, 2020
TRIOBP146May 27, 2021
TRIP103Apr 3, 2017
TRIP113May 27, 2021
TRNT15Apr 3, 2017
TSC122Mar 21, 2019
TSC257May 27, 2021
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
TTC371Mar 21, 2019
TTC7A4Apr 3, 2017
TTC81Aug 18, 2015
TTLL15Apr 3, 2017
TTLL1-AS12Apr 3, 2017
TTN2836May 27, 2021
TTN-AS11526May 27, 2021
TTPA2Mar 21, 2019
TTR26May 27, 2021
TUBB81May 14, 2020
TUBGCP41Mar 21, 2019
TULP11Mar 21, 2019
TYK23Apr 3, 2017
TYMP2Mar 21, 2019
TYR5Mar 21, 2019
TYRP11Aug 18, 2015
UBA52Mar 21, 2019
UBE4A1Apr 3, 2017
UBR11Aug 18, 2015
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
UPB12May 27, 2021
USB12Apr 3, 2017
USH1C142May 27, 2021
USH1G37May 27, 2021
USH2A628May 27, 2021
USH2A-AS144May 14, 2020
USH2A-AS234Jun 3, 2020
UTP41Apr 3, 2017
VANGL14Mar 21, 2019
VAV13Apr 3, 2017
VCL99May 27, 2021
VCX3A1Apr 3, 2017
VDR2Mar 21, 2019
VHL27May 27, 2021
VKORC12Jan 26, 2015
VPS13A2May 14, 2020
VPS13B3Mar 21, 2019
VPS531Apr 3, 2017
VRK21Mar 21, 2019
VSIG101Apr 3, 2017
VSX12Apr 3, 2017
VWF8May 27, 2021
WDR351Mar 21, 2019
WDR361Apr 3, 2017
WDR621May 27, 2021
WDR721Mar 21, 2019
WFS1224May 27, 2021
WHRN112May 27, 2021
WIPF12Apr 3, 2017
WNT10A1Apr 3, 2017
WRAP533Apr 3, 2017
WRN2Mar 21, 2019
WT15Jun 3, 2020
WWC11Apr 3, 2017
XDH2Mar 21, 2019
XIAP2Apr 3, 2017
XIRP21Apr 3, 2017
XIRP2-AS11Apr 3, 2017
XRCC42May 27, 2021
YBEY4Apr 3, 2017
ZAN3Apr 3, 2017
ZAP703Apr 3, 2017
ZBTB221Apr 3, 2017
ZC3H141Apr 3, 2017
ZDHHC242Mar 21, 2019
ZFAT1Apr 3, 2017
ZFHX41May 14, 2020
ZFPM23Apr 3, 2017
ZFPM2-AS12Apr 3, 2017
ZIC31Apr 3, 2017
ZIC42Apr 3, 2017
ZIC51Apr 3, 2017
ZMPSTE241Mar 21, 2019
ZNF1412Apr 3, 2017
ZNF181Apr 3, 2017
ZNF2331Apr 3, 2017
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
Achondrogenesis, type IA2May 27, 2021
Achromatopsia5May 14, 2020
Achromatopsia 21Aug 18, 2015
Acrocallosal syndrome1Aug 18, 2015
Acroerythrokeratoderma1Mar 21, 2019
Acth-independent macronodular adrenal hyperplasia 21Mar 21, 2019
Adams-Oliver syndrome1Mar 21, 2019
Adenylosuccinate lyase deficiency1Mar 21, 2019
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1May 14, 2020
Afibrinogenemia, congenital1Mar 21, 2019
Aicardi Goutieres syndrome4Mar 21, 2019
Aicardi Goutieres syndrome 11Aug 18, 2015
Alpha-1-antitrypsin deficiency1Mar 21, 2019
Alpha-N-acetylgalactosaminidase deficiency type 11Mar 6, 2015
Alstrom syndrome1May 27, 2021
Alternating hemiplegia of childhood1Mar 21, 2019
Amelogenesis imperfecta1Mar 21, 2019
Amyloidogenic transthyretin amyloidosis7May 27, 2021
Analbuminemia1Mar 21, 2019
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Mar 21, 2019
Argininosuccinate lyase deficiency1Mar 21, 2019
Arrhythmogenic right ventricular cardiomyopathy90May 27, 2021
Arteriohepatic dysplasia1Mar 21, 2019
Ataxia-oculomotor apraxia type 14May 14, 2020
Ataxia-telangiectasia syndrome1May 14, 2020
Atrichia with papular lesions1Mar 21, 2019
Atypical hemolytic uremic syndrome1Mar 21, 2019
Auditory neuropathy-optic atrophy syndrome1Mar 21, 2019
Autosomal dominant hypohidrotic ectodermal dysplasia2Mar 21, 2019
Autosomal erythropoietic protoporphyria2May 14, 2020
Autosomal recessive DOPA responsive dystonia1Aug 18, 2015
Autosomal recessive axonal hereditary motor and sensory neuropathy1Mar 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 infantile hypercalcemia1May 14, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D1May 14, 2020
Autosomal recessive osteopetrosis 11Mar 6, 2015
Autosomal recessive polycystic kidney disease3May 27, 2021
Autosomal recessive pseudohypoaldosteronism type 11May 27, 2021
Autosomal recessive spastic ataxia3May 14, 2020
Bardet-Biedl syndrome4May 14, 2020
Bardet-Biedl syndrome 101Mar 6, 2015
Bardet-Biedl syndrome 21Aug 18, 2015
Bardet-Biedl syndrome 81Aug 18, 2015
Bare lymphocyte syndrome 22Mar 21, 2019
Bestrophinopathy, autosomal recessive3Mar 21, 2019
Beta-hydroxyisobutyryl-CoA deacylase deficiency2May 14, 2020
Bietti crystalline corneoretinal dystrophy3May 14, 2020
Biotinidase deficiency4May 27, 2021
Bloom syndrome3May 27, 2021
Bohring-Opitz syndrome1May 27, 2021
Brachyolmia1Mar 21, 2019
Brody myopathy1Mar 21, 2019
Brown-Vialetto-Van Laere syndrome 21Aug 18, 2015
Brugada syndrome18May 27, 2021
CCDC115-CDG1May 27, 2021
CHARGE association3May 14, 2020
CHEK2-Related Cancer Susceptibility1Mar 21, 2019
CHEK2-related cancer risk1May 27, 2021
Café-au-lait macules with pulmonary stenosis1Mar 21, 2019
Cardiac arrhythmia, ankyrin B-related1Aug 18, 2015
Cardio-facio-cutaneous syndrome54Jun 3, 2020
Cardiomyopathy6Mar 21, 2019
Carney complex1Mar 21, 2019
Carnitine palmitoyltransferase 1A deficiency1Mar 21, 2019
Carnitine palmitoyltransferase II deficiency1Mar 21, 2019
Catecholaminergic polymorphic ventricular tachycardia8Mar 21, 2019
Central core myopathy2Jun 3, 2020
Centronuclear myopathy2Mar 21, 2019
Cerebroretinal microangiopathy with calcifications and cysts1Mar 21, 2019
Charcot-Marie-Tooth disease, demyelinating, type 4F1Aug 18, 2015
Charcot-Marie-Tooth disease, type 2A2A1Jun 3, 2020
Charcot-Marie-Tooth disease, type 4C1Mar 21, 2019
Charcot-Marie-Tooth disease, type 4J2May 27, 2021
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia1May 14, 2020
Cholestanol storage disease1Mar 21, 2019
Choreoacanthocytosis2May 14, 2020
Chronic mucocutaneous candidiasis1Mar 21, 2019
Chronic obstructive pulmonary disease1Jun 3, 2020
Chylomicron retention disease1Mar 21, 2019
Ciliary dyskinesia, primary, 72Aug 18, 2015
Citrullinemia type I1Mar 21, 2019
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Mar 21, 2019
Classic homocystinuria2Jun 3, 2020
Cobalamin C disease2Mar 21, 2019
Cockayne syndrome B1May 27, 2021
Cockayne syndrome type A1May 27, 2021
Coenzyme Q10 deficiency, primary 11May 14, 2020
Coffin-Siris syndrome1May 14, 2020
Cohen syndrome1Mar 21, 2019
Colorectal cancer1May 14, 2020
Combined malonic and methylmalonic aciduria1Mar 21, 2019
Combined oxidative phosphorylation deficiency 11Mar 21, 2019
Combined oxidative phosphorylation deficiency 311May 14, 2020
Combined oxidative phosphorylation deficiency 71Mar 21, 2019
Combined oxidative phosphorylation deficiency 81Mar 21, 2019
Complement component 2 deficiency1Mar 6, 2015
Complement component 5 deficiency1Mar 21, 2019
Complement component 6 deficiency4Mar 21, 2019
Congenital amegakaryocytic thrombocytopenia1Mar 21, 2019
Congenital bilateral aplasia of vas deferens from CFTR mutation4Mar 21, 2019
Congenital central hypoventilation2Mar 21, 2019
Congenital disorder of glycosylation2May 27, 2021
Congenital disorder of glycosylation type 2J1Aug 18, 2015
Congenital disorder of glycosylation, type Ia1Mar 21, 2019
Congenital dyserythropoietic anemia1Mar 21, 2019
Congenital hereditary endothelial dystrophy of the cornea2Mar 21, 2019
Congenital hydrocephalus1Mar 21, 2019
Congenital hypothyroidism2May 27, 2021
Congenital long QT syndrome37Jun 10, 2021
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization1Mar 21, 2019
Congenital microvillous atrophy1Mar 21, 2019
Congenital myasthenic syndrome6Mar 21, 2019
Congenital myasthenic syndrome 4C2Mar 6, 2015
Congenital myotonia, autosomal dominant form1Mar 21, 2019
Congenital primary aphakia1Mar 21, 2019
Congenital secretory diarrhea, chloride type1Mar 21, 2019
Congenital stationary night blindness3Mar 21, 2019
Corticosterone 18-monooxygenase deficiency1May 14, 2020
Costello syndrome12Mar 21, 2019
Cranioectodermal dysplasia1Mar 21, 2019
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome2May 27, 2021
Crigler-Najjar syndrome, type II1May 27, 2021
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1Mar 6, 2015
Cystic fibrosis12May 27, 2021
Cystinosis1Mar 21, 2019
Cystinuria5Mar 21, 2019
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1May 14, 2020
Danon disease16Mar 21, 2019
Deafness dystonia syndrome1May 14, 2020
Deafness, autosomal dominant 101Aug 18, 2015
Deafness-infertility syndrome1Mar 21, 2019
Deficiency of alpha-mannosidase2May 27, 2021
Deficiency of butyryl-CoA dehydrogenase1Mar 21, 2019
Deficiency of butyrylcholine esterase2May 27, 2021
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
Diabetes mellitus, neonatal, with congenital hypothyroidism1Mar 21, 2019
Diastrophic dysplasia1Mar 21, 2019
Diffuse interstitial pulmonary fibrosis3Mar 21, 2019
Dihydropteridine reductase deficiency1Mar 21, 2019
Dilated cardiomyopathy 1G1Aug 18, 2015
Disseminated atypical mycobacterial infection1Aug 18, 2015
Distal spinal muscular atrophy2Mar 21, 2019
Dubin-Johnson syndrome2May 14, 2020
Dyskeratosis congenita4May 14, 2020
Dystrophic epidermolysis bullosa3Mar 21, 2019
Early infantile epileptic encephalopathy with suppression bursts2Mar 21, 2019
Ectodermal dysplasia1Mar 21, 2019
Ectopia lentis1Mar 21, 2019
Ehlers-Danlos syndrome due to tenascin-X deficiency1Aug 18, 2015
Ehlers-Danlos syndrome, type 46May 27, 2021
Eichsfeld type congenital muscular dystrophy1Mar 21, 2019
Ellis-van Creveld syndrome2May 27, 2021
Epidermolysis bullosa junctionalis with pyloric atresia1Aug 18, 2015
Episodic ataxia type 21Mar 21, 2019
Fabry disease12May 14, 2020
Factor V deficiency2Jun 3, 2020
Factor VII deficiency1May 27, 2021
Familial Mediterranean fever2Mar 21, 2019
Familial dysautonomia1Jun 3, 2020
Familial exudative vitreoretinopathy1Mar 21, 2019
Familial hemophagocytic lymphohistiocytosis1Mar 21, 2019
Familial hypercholesterolemia 12Jun 10, 2021
Familial hypokalemia-hypomagnesemia1Aug 18, 2015
Familial idiopathic steroid-resistant nephrotic syndrome1Mar 21, 2019
Familial isolated deficiency of vitamin E2Mar 21, 2019
Familial multiple polyposis syndrome18Jun 3, 2020
Familial thoracic aortic aneurysm and aortic dissection9May 27, 2021
Familial thyroid dyshormonogenesis2Jun 3, 2020
Fanconi anemia5Mar 21, 2019
Fanconi anemia, complementation group A1Aug 18, 2015
Fanconi anemia, complementation group F1Aug 18, 2015
Farber disease1Mar 21, 2019
Fatty liver disease, nonalcoholic 11May 27, 2021
Fraser syndrome 11Mar 21, 2019
Frasier syndrome1Jun 3, 2020
Fukuyama congenital muscular dystrophy1Mar 21, 2019
GAPO syndrome1Mar 21, 2019
GM1 gangliosidosis1Mar 21, 2019
GNE myopathy1Mar 21, 2019
Galactosemia1Mar 21, 2019
Galactosylceramide beta-galactosidase deficiency1Mar 21, 2019
Gastrointestinal stromal tumor2Mar 21, 2019
Gaucher disease1Mar 21, 2019
Gaucher disease type I2May 27, 2021
Generalized juvenile polyposis/juvenile polyposis coli1Mar 21, 2019
Glaucoma 3, primary congenital, A1Mar 6, 2015
Glaucoma of childhood2Mar 21, 2019
Glomuvenous malformations2Mar 21, 2019
Glucocorticoid deficiency 21Aug 18, 2015
Glucocorticoid deficiency with achalasia1Mar 21, 2019
Glycogen storage disease9May 27, 2021
Glycogen storage disease type III1May 27, 2021
Glycogen storage disease, type I1May 27, 2021
Glycogen storage disease, type II3May 27, 2021
Glycogen storage disease, type V2Mar 21, 2019
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 disease1Mar 21, 2019
Heart, malformation of3Mar 21, 2019
Hemochromatosis type 21Jun 3, 2020
Hemochromatosis type 2A1Mar 6, 2015
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1Mar 21, 2019
Hepatic lipase deficiency1Aug 18, 2015
Hepatic veno-occlusive disease-immunodeficiency syndrome1Mar 6, 2015
Hereditary Paraganglioma-Pheochromocytoma Syndromes18Jun 3, 2020
Hereditary angioneurotic edema1Mar 21, 2019
Hereditary ataxia1Mar 21, 2019
Hereditary breast and ovarian cancer syndrome145May 27, 2021
Hereditary factor VIII deficiency disease2May 14, 2020
Hereditary factor XI deficiency disease1May 14, 2020
Hereditary fructosuria2Mar 21, 2019
Hereditary methemoglobinemia1Jun 3, 2020
Hereditary pancreatitis2May 27, 2021
Hereditary renal hypouricemia1Mar 21, 2019
Hereditary spastic paraplegia6May 27, 2021
Hereditary spastic paraplegia 5A1Mar 21, 2019
Hereditary spherocytosis1May 27, 2021
Hereditary xanthinuria type 12Mar 21, 2019
Hermansky-Pudlak syndrome4Mar 21, 2019
Hermansky-Pudlak syndrome 61Aug 18, 2015
Heterotaxia2Mar 21, 2019
Hidrotic ectodermal dysplasia syndrome1Mar 21, 2019
Hirschsprung disease2Mar 21, 2019
Holt-Oram syndrome1Mar 21, 2019
Homocystinuria without methylmalonic aciduria1Mar 21, 2019
Homozygous familial hypercholesterolemia66May 27, 2021
Hutchinson-Gilford syndrome2Mar 21, 2019
Hyalinosis, Segmental Glomerular5May 27, 2021
Hydatidiform mole, recurrent, 11Mar 6, 2015
Hydatidiform mole, recurrent, 21Aug 18, 2015
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1Aug 18, 2015
Hypercalcemia, infantile, 11Aug 18, 2015
Hyperekplexia 11Mar 21, 2019
Hyperimmunoglobulin D with periodic fever1Mar 21, 2019
Hyperphosphatasia-intellectual disability syndrome3Mar 21, 2019
Hypertrophic cardiomyopathy393May 27, 2021
Hypobetalipoproteinemia1Mar 21, 2019
Hypohidrotic X-linked ectodermal dysplasia48Mar 21, 2019
Hypophosphatemic rickets1Mar 21, 2019
Hypothyroidism, congenital, nongoitrous, 11Mar 6, 2015
Hypotonia-speech impairment-severe cognitive delay syndrome1Mar 21, 2019
Hypotrichosis simplex2May 27, 2021
Ichthyosis vulgaris3Mar 21, 2019
Idiopathic Pulmonary Fibrosis1Jun 3, 2020
Idiopathic and/or familial pulmonary arterial hypertension3May 27, 2021
Idiopathic bronchiectasis1Mar 21, 2019
Idiopathic nephrotic syndrome1Aug 18, 2015
Imerslund-Gräsbeck syndrome3Mar 21, 2019
Immunodeficiency 231Mar 21, 2019
Immunodeficiency 501Mar 21, 2019
Indifference to pain, congenital, autosomal recessive1Mar 21, 2019
Infantile hypophosphatasia1May 27, 2021
Infantile liver failure2Mar 21, 2019
Inherited bleeding disorder, platelet-type1May 27, 2021
Intrinsic factor deficiency2Mar 21, 2019
Iodotyrosyl coupling defect1Aug 18, 2015
Isolated congenital hypogonadotropic hypogonadism1Mar 21, 2019
Isolated ectopia lentis1May 27, 2021
Jervell and Lange-Nielsen syndrome5Mar 21, 2019
Johanson-Blizzard syndrome1Aug 18, 2015
Joubert syndrome8May 27, 2021
Joubert syndrome 21May 14, 2020
Joubert syndrome 71Aug 18, 2015
Junctional epidermolysis bullosa3May 27, 2021
Junctional epidermolysis bullosa, non-Herlitz type1Aug 18, 2015
Juvenile myelomonocytic leukemia16May 14, 2020
KBG syndrome1Mar 21, 2019
Kleefstra syndrome due to a point mutation1Mar 21, 2019
Knobloch syndrome 12May 27, 2021
Lamellar ichthyosis1Mar 21, 2019
Laminopathy6Jun 3, 2020
Late-infantile neuronal ceroid lipofuscinosis1Mar 21, 2019
Leber congenital amaurosis3Mar 21, 2019
Leber congenital amaurosis 31Mar 6, 2015
Left ventricular noncompaction8Mar 21, 2019
Legius syndrome1Mar 21, 2019
Leukocyte adhesion deficiency type II1Aug 18, 2015
Leukodystrophy, hypomyelinating, 101May 14, 2020
Leukoencephalopathy with vanishing white matter2Jun 3, 2020
Li-Fraumeni syndrome18Jun 3, 2020
Lig4 syndrome1Mar 21, 2019
Limb-girdle muscular dystrophy3Mar 21, 2019
Limb-girdle muscular dystrophy, type 2A1Aug 18, 2015
Limb-girdle muscular dystrophy, type 2L1Aug 18, 2015
Loeys-Dietz syndrome12May 27, 2021
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Mar 21, 2019
Lynch syndrome76Jun 10, 2021
Lysosomal acid lipase deficiency1Aug 18, 2015
MYH-associated polyposis9Jun 3, 2020
Macular corneal dystrophy1Mar 21, 2019
Male infertility with spermatogenesis disorder1May 27, 2021
Malignant hyperthermia susceptibility10May 27, 2021
Maple syrup urine disease2Mar 21, 2019
Marfan syndrome138May 27, 2021
Maturity onset diabetes mellitus in young3Mar 21, 2019
Meckel-Gruber syndrome2Mar 21, 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency4May 14, 2020
Meier-Gorlin syndrome2Mar 21, 2019
Melanoma2Jun 3, 2020
Mental Retardation, Psychosocial1Mar 21, 2019
Mental retardation, autosomal dominant 191May 14, 2020
Mental retardation, autosomal dominant 71Mar 21, 2019
Mental retardation, autosomal recessive 571May 27, 2021
Merosin deficient congenital muscular dystrophy1Mar 6, 2015
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration1Mar 21, 2019
Metachondromatosis1Mar 21, 2019
Metachromatic leukodystrophy1May 27, 2021
Methylcrotonyl-CoA carboxylase deficiency1Mar 21, 2019
Methylmalonic acidemia3May 27, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1Aug 18, 2015
Microcephalic osteodysplastic primordial dwarfism type II1Mar 21, 2019
Microcephaly, normal intelligence and immunodeficiency2May 14, 2020
Miller syndrome1Mar 21, 2019
Mitochondrial DNA depletion syndrome4Mar 21, 2019
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Mar 21, 2019
Mitochondrial complex I deficiency2Aug 18, 2015
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
Molybdenum cofactor deficiency, complementation group B1Aug 18, 2015
Morquio syndrome2Mar 21, 2019
Mucolipidosis4Mar 21, 2019
Mucolipidosis type II1Aug 18, 2015
Mucopolysaccharidosis type 12Mar 21, 2019
Mucopolysaccharidosis type 61Mar 6, 2015
Multiple congenital anomalies-hypotonia-seizures syndrome2Mar 21, 2019
Multiple endocrine neoplasia, type 13Mar 21, 2019
Multiple endocrine neoplasia, type 26May 27, 2021
Multiple fibrofolliculomas3May 27, 2021
Multiple mitochondrial dysfunctions syndrome 31May 14, 2020
Muscular dystrophy6Jun 3, 2020
Myeloperoxidase deficiency1Mar 6, 2015
Myhre syndrome1May 14, 2020
Myofibrillar myopathy 16Mar 21, 2019
Myopathy with extrapyramidal signs1May 27, 2021
Myopathy, distal, 12May 27, 2021
Myopathy, proximal, and ophthalmoplegia1Aug 18, 2015
Nanophthalmos1May 14, 2020
Nemaline myopathy 21Aug 18, 2015
Neoplasm of ovary6Apr 26, 2016
Neoplasm of the large intestine1Mar 21, 2019
Nephronophthisis3May 14, 2020
Netherton syndrome2Mar 21, 2019
Neurodegeneration with brain iron accumulation 41Mar 21, 2019
Neurodevelopmental disorder7May 14, 2020
Neurofibromatosis, type 19Mar 21, 2019
Neuromuscular disease19May 27, 2021
Neutral 1 amino acid transport defect1Mar 21, 2019
Niemann-Pick disease, type A1Mar 21, 2019
Niemann-Pick disease, type C6May 27, 2021
Non-ketotic hyperglycinemia3Mar 21, 2019
Non-small cell lung cancer74Mar 21, 2019
Non-syndromic male infertility due to sperm motility disorder1Mar 21, 2019
Nonsyndromic hearing loss and deafness6May 27, 2021
Noonan syndrome166Jun 3, 2020
Noonan syndrome with multiple lentigines14Mar 21, 2019
Oculocutaneous albinism5Mar 21, 2019
Oculocutaneous albinism type 31Aug 18, 2015
Oocyte maturation defect 21May 27, 2021
Orofacial-digital syndrome IV1Aug 18, 2015
Orthostatic hypotension 11Aug 18, 2015
Osteogenesis imperfecta type 71Aug 18, 2015
Osteopathia striata with cranial sclerosis1Mar 21, 2019
PLA2G6-associated neurodegeneration2May 14, 2020
POLG-Related Spectrum Disorders2Mar 21, 2019
PTEN hamartoma tumor syndrome9Jun 10, 2021
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation1Mar 21, 2019
Papillon-Lefèvre syndrome1Mar 21, 2019
Parkinson disease2May 27, 2021
Parkinson disease 6, autosomal recessive early-onset1Mar 6, 2015
Partial congenital absence of teeth2Mar 21, 2019
Peroxisomal acyl-CoA oxidase deficiency1Aug 18, 2015
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1Mar 21, 2019
Persistent Mullerian duct syndrome1May 27, 2021
Phenylketonuria5Mar 21, 2019
Phytanic acid storage disease1Aug 18, 2015
Pierson syndrome1Mar 21, 2019
Pigmentary pallidal degeneration1Mar 21, 2019
Pigmentary retinal dystrophy1Aug 18, 2015
Pigmented nodular adrenocortical disease, primary, 21Aug 18, 2015
Polyglandular autoimmune syndrome, type 12May 14, 2020
Polyglucosan body myopathy 22Mar 21, 2019
Polymicrogyria, bilateral frontoparietal1Mar 6, 2015
Pontoneocerebellar hypoplasia2Mar 21, 2019
Poretti-Boltshauser syndrome1Mar 21, 2019
Primary autosomal recessive microcephaly2Mar 21, 2019
Primary autosomal recessive microcephaly 21May 27, 2021
Primary ciliary dyskinesia30May 14, 2020
Primary degenerative dementia of the Alzheimer type, presenile onset2Jun 3, 2020
Primary dilated cardiomyopathy276May 27, 2021
Primary hyperoxaluria, type I1Mar 21, 2019
Primary hyperoxaluria, type II1Mar 21, 2019
Primary hyperoxaluria, type III2Mar 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 31Aug 18, 2015
Progressive pseudorheumatoid dysplasia1Mar 21, 2019
Prolidase deficiency1Mar 21, 2019
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome1Mar 21, 2019
Propionic acidemia1Mar 21, 2019
Pseudoxanthoma elasticum2Mar 21, 2019
Pulmonary venoocclusive disease 1, autosomal dominant1Mar 21, 2019
Purine-nucleoside phosphorylase deficiency1Mar 21, 2019
Pustular psoriasis, generalized1Mar 21, 2019
Pyridoxine-dependent epilepsy1Mar 21, 2019
Pyruvate kinase deficiency of red cells1Jun 3, 2020
Qualitative or quantitative defects of collagen 61Mar 21, 2019
Qualitative or quantitative defects of dysferlin1Mar 21, 2019
Radial aplasia-thrombocytopenia syndrome2Mar 21, 2019
Rare genetic deafness743May 27, 2021
Rare isolated myopia1Mar 21, 2019
Rare syndromic intellectual disability1May 14, 2020
Renal carnitine transport defect2Mar 21, 2019
Renal dysplasia2May 27, 2021
Renal dysplasia and retinal aplasia1Mar 21, 2019
Restrictive cardiomyopathy8Jun 3, 2020
Reticular dysgenesis1Mar 21, 2019
Retinal cone dystrophy 41Aug 18, 2015
Retinitis pigmentosa9May 27, 2021
Retinitis pigmentosa 252Aug 18, 2015
Retinitis pigmentosa 411Aug 18, 2015
Retinoblastoma1Mar 21, 2019
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 autosomal recessive muscular dystrophy of childhood - North African type2Aug 18, 2015
Severe combined immunodeficiency due to ADA deficiency2Mar 21, 2019
Short Rib Polydactyly Syndrome1Mar 21, 2019
Short rib-polydactyly syndrome, Majewski type1Aug 18, 2015
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
Shwachman-Diamond syndrome 12Mar 21, 2019
Sitosterolemia3May 27, 2021
Sjögren-Larsson syndrome1Mar 21, 2019
Smith-Lemli-Opitz syndrome3Mar 21, 2019
Spastic paraplegia-Paget disease of bone syndrome1Mar 21, 2019
Spinal muscular atrophy, distal, autosomal recessive, 11Mar 21, 2019
Spinocerebellar ataxia, autosomal recessive 81Aug 18, 2015
Spondyloepimetaphyseal dysplasia, pakistani type1Aug 18, 2015
Spondyloepiphyseal dysplasia1Mar 21, 2019
Spondyloperipheral dysplasia-short ulna syndrome1Aug 18, 2015
Spongy degeneration of central nervous system3Mar 21, 2019
Stargardt disease10May 27, 2021
Stickler syndrome1Mar 21, 2019
Stüve-Wiedemann syndrome2Mar 21, 2019
Succinate-semialdehyde dehydrogenase deficiency1Mar 21, 2019
Sucrase-isomaltase deficiency3Jun 3, 2020
Sudden cardiac failure, infantile1May 27, 2021
Supravalvar aortic stenosis24Mar 21, 2019
Tay-Sachs disease2Mar 21, 2019
Testosterone 17-beta-dehydrogenase deficiency1Mar 21, 2019
Thyroid dyshormonogenesis 61Mar 6, 2015
Thyroid hormone metabolism, abnormal1May 27, 2021
Trichohepatoenteric syndrome1Mar 21, 2019
Triosephosphate isomerase deficiency1Mar 21, 2019
Tuberous sclerosis syndrome13Mar 21, 2019
Tumoral calcinosis, hyperphosphatemic, familial1Aug 18, 2015
Tyrosinase-negative oculocutaneous albinism1Aug 18, 2015
Tyrosinase-positive oculocutaneous albinism3Mar 21, 2019
Tyrosine kinase inhibitor response53Apr 26, 2016
Tyrosinemia type I2Mar 21, 2019
Undetermined early-onset epileptic encephalopathy1Mar 21, 2019
Upshaw-Schulman syndrome2May 27, 2021
Usher syndrome28May 27, 2021
Usher syndrome, type 2A2Aug 18, 2015
Van Maldergem syndrome1Mar 21, 2019
Variegate porphyria1Mar 6, 2015
Venous thromboembolism1Jun 3, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Mar 21, 2019
Vici syndrome1Mar 21, 2019
Vitamin B12-responsive methylmalonic acidemia type cblB1Aug 18, 2015
Vitamin D-dependent rickets, type 11May 14, 2020
Von Hippel-Lindau syndrome19May 14, 2020
Waardenburg syndrome4Jun 3, 2020
Walker-Warburg congenital muscular dystrophy3May 27, 2021
Warburg micro syndrome 21Aug 18, 2015
Warfarin response5Jan 29, 2015
Weill-Marchesani syndrome1Mar 21, 2019
Werner syndrome2Mar 21, 2019
Wilson disease5Jun 3, 2020
Wolfram syndrome 14May 14, 2020
X-linked severe congenital neutropenia1Mar 21, 2019
Xeroderma pigmentosum4May 14, 2020
Xeroderma pigmentosum, group G1Aug 18, 2015
Young-onset Parkinson disease2Jun 3, 2020
beta Thalassemia1May 14, 2020
not provided1May 14, 2020
not specified21055May 27, 2021
von Willebrand disorder4May 27, 2021

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 21 test
Aarskog syndrome1 test
Alpha-1-antitrypsin deficiency1 test
Alpha-B crystallinopathy1 test
Alport syndrome1 test
Alstrom syndrome1 test
Alveolar capillary dysplasia with pulmonary venous misalignment1 test
Amyloidogenic transthyretin amyloidosis2 tests
Arrhythmogenic right ventricular cardiomyopathy, type 101 test
Arrhythmogenic right ventricular cardiomyopathy, type 111 test
Arrhythmogenic right ventricular cardiomyopathy, type 121 test
Arrhythmogenic right ventricular cardiomyopathy, type 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial, 21 test
Atrial fibrillation, familial, 121 test
Auditory neuropathy1 test
Autoimmune disease, multisystem, infantile-onset, 11 test
Autosomal dominant nonsyndromic deafness 62 tests
Autosomal recessive cutis laxa type 1B1 test
Autosomal recessive cutis laxa type IA1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Baraitser-Winter Syndrome 21 test
Baraitser-Winter syndrome 11 test
Becker muscular dystrophy1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Branchiootorenal Spectrum Disorders1 test
Bronchiectasis with or without elevated sweat chloride 11 test
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brown-Vialetto-Van Laere syndrome1 test
Brugada syndrome 11 test
CHARGE association1 test
Cardio-facio-cutaneous syndrome1 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy, dilated, 1NN1 test
Cardiomyopathy, dilated, 2b1 test
Catecholaminergic polymorphic ventricular tachycardia type 11 test
Centronuclear myopathy1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
Chronic obstructive pulmonary disease1 test
Chudley-McCullough syndrome1 test
Ciliary dyskinesia, primary, 101 test
Ciliary dyskinesia, primary, 111 test
Ciliary dyskinesia, primary, 121 test
Ciliary dyskinesia, primary, 131 test
Ciliary dyskinesia, primary, 141 test
Ciliary dyskinesia, primary, 151 test
Ciliary dyskinesia, primary, 161 test
Ciliary dyskinesia, primary, 31 test
Ciliary dyskinesia, primary, 61 test
Ciliary dyskinesia, primary, 71 test
Ciliary dyskinesia, primary, 91 test
Cone-rod dystrophy and hearing loss1 test
Congenital central hypoventilation1 test
Congenital muscular dystrophy, LMNA-related1 test
Costello syndrome2 tests
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1 test
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 21 test
Cystic fibrosis1 test
Danon disease1 test
Deafness dystonia syndrome1 test
Deafness, X-linked 21 test
Deafness, autosomal dominant 3a1 test
Deafness, autosomal recessive 1A1 test
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct2 tests
Deafness, nonsyndromic sensorineural, mitochondrial1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 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 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 3B1 test
Dilated cardiomyopathy with woolly hair and keratoderma1 test
Distal myopathy, Tateyama type1 test
Duchenne muscular dystrophy1 test
Dyskeratosis congenita, autosomal dominant 11 test
Dyskeratosis congenita, autosomal dominant, 21 test
Emery-Dreifuss muscular dystrophy 1, X-linked1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Fabry disease1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial hypertrophic cardiomyopathy 11 test
Familial hypertrophic cardiomyopathy 101 test
Familial hypertrophic cardiomyopathy 111 test
Familial hypertrophic cardiomyopathy 121 test
Familial hypertrophic cardiomyopathy 131 test
Familial hypertrophic cardiomyopathy 141 test
Familial hypertrophic cardiomyopathy 151 test
Familial hypertrophic cardiomyopathy 161 test
Familial hypertrophic cardiomyopathy 171 test
Familial hypertrophic cardiomyopathy 181 test
Familial hypertrophic cardiomyopathy 21 test
Familial hypertrophic cardiomyopathy 201 test
Familial hypertrophic cardiomyopathy 31 test
Familial hypertrophic cardiomyopathy 41 test
Familial hypertrophic cardiomyopathy 61 test
Familial hypertrophic cardiomyopathy 71 test
Familial hypertrophic cardiomyopathy 81 test
Familial hypertrophic cardiomyopathy 91 test
Familial restrictive cardiomyopathy 11 test
Familial restrictive cardiomyopathy 31 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Genitopatellar syndrome1 test
Genome Screening1 test
Glycogen storage disease of heart, lethal congenital1 test
Hereditary disease2 tests
Hereditary hearing loss and deafness6 tests
Hereditary hemorrhagic telangiectasia1 test
Hermansky-Pudlak syndrome1 test
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 31 test
Hermansky-Pudlak syndrome 41 test
Hermansky-Pudlak syndrome 51 test
Hermansky-Pudlak syndrome 61 test
Hermansky-Pudlak syndrome 71 test
Hermansky-Pudlak syndrome 81 test
Hermansky-Pudlak syndrome 91 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
Hypertrophic cardiomyopathy1 test
Hypertrophic cardiomyopathy 251 test
Idiopathic Pulmonary Fibrosis1 test
Jervell and Lange-Nielsen syndrome1 test
Kartagener syndrome1 test
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
LEOPARD syndrome 12 tests
LEOPARD syndrome 22 tests
LEOPARD syndrome 31 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 101 test
Left ventricular noncompaction 61 test
Left ventricular noncompaction 81 test
Legius syndrome1 test
Limb-girdle muscular dystrophy, type 1B1 test
Limb-girdle muscular dystrophy, type 2J1 test
Lymphangiomyomatosis1 test
MASS syndrome1 test
MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Marfan syndrome1 test
Multiple fibrofolliculomas1 test
Muscular dystrophy, limb-girdle, type 2R1 test
Mutilating keratoderma1 test
Myofibrillar myopathy 11 test
Myofibrillar myopathy, BAG3-related1 test
Myofibrillar myopathy, ZASP-related1 test
Myopathy, distal, 11 test
Myopathy, early-onset, with fatal cardiomyopathy1 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myosin storage myopathy1 test
Naxos disease1 test
Neurofibromatosis, type 12 tests
Neurofibromatosis-Noonan syndrome1 test
Noonan syndrome1 test
Noonan syndrome 12 tests
Noonan syndrome 111 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 52 tests
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome-like disorder with loose anagen hair1 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Palmoplantar keratoderma-deafness syndrome1 test
Pendred syndrome2 tests
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Pneumothorax, primary spontaneous1 test
Primary ciliary dyskinesia1 test
Primary ciliary dyskinesia 241 test
Primary dilated cardiomyopathy1 test
Primary pulmonary hypertension 11 test
Primary pulmonary hypertension 21 test
Pulmonary alveolar proteinosis1 test
Pulmonary fibrosis1 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 21 test
Pulmonary surfactant metabolism dysfunction1 test
Pulmonary venoocclusive disease1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Rippling muscle disease1 test
Rippling muscle disease 21 test
Surfactant metabolism dysfunction, pulmonary, 11 test
Surfactant metabolism dysfunction, pulmonary, 21 test
Surfactant metabolism dysfunction, pulmonary, 31 test
Surfactant metabolism dysfunction, pulmonary, 41 test
Surfactant metabolism dysfunction, pulmonary, 51 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Tibial muscular dystrophy1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Type 2 diabetes mellitus1 test
Usher syndrome1 test
Ventricular tachycardia, catecholaminergic polymorphic, 21 test
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1 test
Waardenburg syndrome1 test
Wolff-Parkinson-White pattern1 test
Wolfram syndrome1 test
Wolfram-like syndrome, autosomal dominant1 test
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