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Genetic Services Laboratory (University of Chicago)

General information

Genetic Services Laboratory
University of Chicago
5841 S. Maryland Ave. Rm G701, MC0077
Chicago
Illinois
United States - 60637-6726
http://dnatesting.uchicago.edu/
Organization ID: 1238

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 24524

Gene

GeneSubmissionsLast Updated
A2ML11Jul 5, 2017
AAAS5Jan 24, 2022
AARS22Jan 24, 2022
ABCA11Jan 25, 2022
ABCA131Sep 15, 2015
ABCB112Jul 5, 2017
ABCB71Jan 23, 2022
ABCC62Jul 5, 2017
ABCC8203Mar 9, 2023
ABCC91Jul 5, 2017
ABCD12Jul 5, 2017
ABCD41Jan 24, 2022
ABCG514Mar 9, 2023
ABCG813Mar 9, 2023
ABHD123Jun 27, 2014
ABHD14A-ACY11Jan 24, 2022
ACADS1Jan 24, 2022
ACADVL1Jul 5, 2017
ACD32Mar 9, 2023
ACO22Jun 27, 2014
ACOX11Jan 24, 2022
ACSF31Jan 24, 2022
ACSL412Jan 25, 2022
ACTA110Jan 25, 2022
ACTB9Jan 25, 2022
ACTC11Jan 24, 2022
ACTG133Jan 25, 2022
ACTL6B2Jan 24, 2022
ACTN16Jan 25, 2022
ACTN44Mar 9, 2023
ACVRL13Jan 25, 2022
ACY11Jan 24, 2022
ADA8Mar 9, 2023
ADA29Mar 9, 2023
ADAMTS1312Feb 18, 2022
ADAR1Jan 24, 2022
ADAT315Jan 25, 2022
ADCY101Jan 25, 2022
ADCY33Jan 25, 2022
ADGRG150Jan 25, 2022
ADGRV191Jul 5, 2017
ADNP15Jan 25, 2022
ADRA2A3Jan 25, 2022
ADSL8Mar 9, 2023
AFF229Jan 25, 2022
AFF48Jan 25, 2022
AFG2A9Jan 25, 2022
AFG3L23Sep 15, 2015
AGMO8Jan 25, 2022
AGO11Jan 24, 2022
AGPAT211Jan 25, 2022
AGPS4Sep 11, 2014
AGRN52Jan 25, 2022
AGTR21Apr 30, 2014
AHDC16Jan 25, 2022
AHI121Mar 9, 2023
AIP2Mar 9, 2023
AIRE28Jan 25, 2022
AKR1C23Jan 25, 2022
AKT11Jul 5, 2017
AKT214Jan 25, 2022
AKT31Jan 25, 2022
ALAS221Mar 9, 2023
ALDH5A116Jan 25, 2022
ALDH7A110Mar 6, 2020
ALDOB1Jan 24, 2022
ALG121Jan 24, 2022
ALG135Jan 25, 2022
ALG143Jan 25, 2022
ALG622Jan 25, 2022
ALG82Mar 9, 2023
ALG95Mar 9, 2023
ALK16Mar 9, 2023
ALMS172Mar 9, 2023
ALPL5Jan 25, 2022
ALX12Jul 5, 2017
ALX31Sep 15, 2015
ALX42Mar 9, 2023
AMACR6Sep 15, 2015
AMH7Jan 25, 2022
AMHR26Jan 25, 2022
AMPD23Jul 5, 2017
ANGPT29Jul 5, 2017
ANK3146Jan 25, 2022
ANKLE21Mar 9, 2023
ANKRD1130Mar 9, 2023
ANKRD26107Mar 9, 2023
ANKS62Mar 9, 2023
ANLN2Mar 9, 2023
ANO1011Dec 5, 2022
ANO510Jan 25, 2022
ANOS11Jul 5, 2017
AOPEP33Mar 9, 2023
AP1S24Jul 5, 2017
AP2S12Jan 25, 2022
AP3B119Jan 25, 2022
AP3D13Jan 25, 2022
AP4B137Jan 25, 2022
AP4B1-AS127Jan 25, 2022
AP4E142Jan 25, 2022
AP4M127Jan 25, 2022
AP4S111Jan 25, 2022
AP5Z19Sep 15, 2015
APBA21Jul 5, 2017
APC66Mar 9, 2023
APOA15Mar 9, 2023
APOA1-AS4Mar 9, 2023
APOA24Mar 9, 2023
APOA51Jan 25, 2022
APOB20Jan 25, 2022
APOE1Jan 25, 2022
APOL11Jan 25, 2022
APPL19Mar 9, 2023
APTX2Jul 5, 2017
AR35Mar 9, 2023
ARFGEF12Jul 5, 2017
ARFGEF1-DT4Jan 23, 2022
ARFGEF291Jan 25, 2022
ARHGAP61Apr 30, 2014
ARHGEF153Jul 5, 2017
ARHGEF616Jan 25, 2022
ARHGEF910Jan 25, 2022
ARID1A87Mar 9, 2023
ARID1B148Jan 25, 2022
ARL13B6Mar 9, 2023
ARL14EP-DT1Jan 25, 2022
ARSA4Jan 24, 2022
ARSL13Jan 23, 2022
ARV11Jan 25, 2022
ARX67Jan 25, 2022
ASB142Jan 25, 2022
ASIC4-AS12Jan 25, 2022
ASL4Jan 24, 2022
ASNS7Jan 25, 2022
ASPA1Jan 24, 2022
ASPM265Mar 9, 2023
ASS13Jul 5, 2017
ASTN25Mar 9, 2023
ASXL23Jan 25, 2022
ASXL341Mar 9, 2023
ATAD3A1Jan 23, 2022
ATCAY2Jan 25, 2022
ATG2B24Mar 9, 2023
ATL12Jun 27, 2014
ATM227Mar 9, 2023
ATN18Mar 6, 2020
ATP13A221Jan 25, 2022
ATP1A212Jan 24, 2022
ATP1A314Jan 24, 2022
ATP2B31Jan 23, 2022
ATP6AP24Jun 27, 2014
ATP6V0A28Jan 25, 2022
ATP6V0A41Mar 9, 2023
ATP7A105Jul 5, 2017
ATP7B74Dec 5, 2022
ATP8A24Sep 15, 2015
ATR84Jan 25, 2022
ATRX56Mar 9, 2023
ATXN115Sep 15, 2015
ATXN25Sep 15, 2015
ATXN39Sep 15, 2015
ATXN74Jun 27, 2014
AUH1Jun 27, 2014
AXDND11Mar 9, 2023
AXIN13Mar 9, 2023
AXIN212Mar 9, 2023
B3GALNT26Jan 25, 2022
B3GLCT5Jan 25, 2022
B4GALNT11Jan 25, 2022
B4GAT13Jan 25, 2022
B9D12Jul 5, 2017
B9D21Jul 5, 2017
BAP131Mar 9, 2023
BARD125Jan 25, 2022
BBS124Jan 25, 2022
BBS1017Mar 9, 2023
BBS1216Mar 9, 2023
BBS25Jan 25, 2022
BBS46Jan 25, 2022
BBS59Jan 25, 2022
BBS79Mar 9, 2023
BBS923Mar 9, 2023
BCKDHA6Jan 24, 2022
BCKDHB2Jan 24, 2022
BCKDK6Jul 5, 2017
BCOR33Jan 25, 2022
BICD24Jan 25, 2022
BIN120Sep 15, 2015
BIVM-ERCC57Jan 24, 2022
BLK21Mar 9, 2023
BLM88Mar 9, 2023
BLOC1S37Jan 25, 2022
BLOC1S61Jul 5, 2017
BLTP11Jan 25, 2022
BMP42Jan 25, 2022
BMPR1A12Jan 25, 2022
BRAF2Jan 25, 2022
BRAT19Jan 25, 2022
BRCA1176Mar 9, 2023
BRCA2265Mar 9, 2023
BRD41Mar 9, 2023
BRIP166Mar 9, 2023
BRPF11Jan 24, 2022
BRWD318Jan 25, 2022
BSCL29Jan 25, 2022
BSND1Mar 9, 2023
BTD8Mar 9, 2023
BTK3Mar 9, 2023
BUB1B3Jan 25, 2022
C10orf1051Jan 24, 2022
C11orf6583Mar 9, 2023
C12orf431Mar 6, 2020
C12orf5711Jan 25, 2022
C17orf1077Jan 25, 2022
C19orf127Jul 5, 2017
C1QTNF3-AMACR6Sep 15, 2015
C23Jan 25, 2022
C322Mar 9, 2023
CA88Jan 25, 2022
CACNA1A49Mar 9, 2023
CACNA1D32Mar 9, 2023
CACNA1G1Jul 5, 2017
CACNA2D23Jan 25, 2022
CACNB46Mar 6, 2020
CACNG22Jul 5, 2017
CAMTA16Jul 5, 2017
CAPN12Jan 25, 2022
CAPN320Jan 25, 2022
CARD1125Mar 9, 2023
CARD11-AS12Jan 25, 2022
CASD11Jul 5, 2017
CASK48Mar 9, 2023
CASP106Mar 9, 2023
CASR15Mar 9, 2023
CAST11Jan 25, 2022
CAV12Jun 27, 2014
CAV35Jun 27, 2014
CAVIN14Jul 5, 2017
CBL50Jan 25, 2022
CBR41Sep 15, 2015
CC2D1A56Jan 25, 2022
CC2D2A42Mar 9, 2023
CCDC2221Dec 5, 2022
CCDC401Apr 30, 2014
CCDC788Oct 4, 2017
CCDC81Jan 25, 2022
CCDC88A1Mar 9, 2023
CCDC88C39Jan 25, 2022
CCND21Jan 25, 2022
CCNF1Mar 6, 2020
CD274Mar 9, 2023
CD27-AS14Mar 9, 2023
CD40LG1Mar 9, 2023
CD464Mar 9, 2023
CD701Jan 25, 2022
CDC611Jul 5, 2017
CDC735Jan 25, 2022
CDH138Mar 9, 2023
CDH1552Jan 25, 2022
CDH232Jan 24, 2022
CDK46Jan 25, 2022
CDK52Jul 5, 2017
CDK5RAP294Mar 9, 2023
CDK66Mar 9, 2023
CDKL564Jan 25, 2022
CDKN1B4Jan 25, 2022
CDKN1C17Mar 9, 2023
CDKN2A8Mar 9, 2023
CDT150Jan 25, 2022
CEBPA31Mar 9, 2023
CEL27Mar 9, 2023
CENPE24Jan 25, 2022
CENPF37Jan 25, 2022
CENPJ68Jan 25, 2022
CEP1041Jul 5, 2017
CEP1207Mar 9, 2023
CEP13542Jan 25, 2022
CEP15298Jan 25, 2022
CEP1642Mar 9, 2023
CEP29076Mar 9, 2023
CEP413Mar 9, 2023
CEP6330Dec 5, 2022
CEP831Jan 25, 2022
CFB4Jan 25, 2022
CFH4Jan 25, 2022
CFHR14Jan 25, 2022
CFHR32Jan 25, 2022
CFHR411Jan 25, 2022
CFHR59Jan 25, 2022
CFI8Jan 25, 2022
CFL22Sep 15, 2015
CFTR8Oct 4, 2017
CFTR-AS12Jul 5, 2017
CHAMP11Jul 5, 2017
CHAT17Jul 5, 2017
CHD29Jan 25, 2022
CHD44Mar 9, 2023
CHD7125Mar 9, 2023
CHD82Jan 25, 2022
CHEK258Mar 9, 2023
CHKB4Jan 25, 2022
CHKB-CPT1B4Jan 25, 2022
CHMP1A5Jul 5, 2017
CHMP2B1Jan 23, 2022
CHRNA14Jan 25, 2022
CHRNA27Jun 27, 2014
CHRNA413Jun 27, 2014
CHRNB14Jun 27, 2014
CHRNB24Oct 4, 2017
CHRND11Jan 25, 2022
CHRNE14Jan 25, 2022
CHST143Jul 5, 2017
CIC3Jan 25, 2022
CIDEC10Jan 25, 2022
CIT21Jan 25, 2022
CITED21Jan 23, 2022
CKAP2L1Mar 9, 2023
CLASP12Jan 25, 2022
CLCC14Jan 25, 2022
CLCN11Jan 23, 2022
CLCN48Jan 25, 2022
CLIC21Jul 5, 2017
CLIP126Jan 25, 2022
CLN36Jul 5, 2017
CLN513Jan 23, 2022
CLN68Jul 5, 2017
CLN86Jul 5, 2017
CLPB1Jan 24, 2022
CLRN11Sep 15, 2015
CNKSR22Jan 25, 2022
CNNM41Jul 5, 2017
CNOT11Jan 25, 2022
CNTN114Jul 5, 2017
CNTNAP278Dec 5, 2022
COA71Jan 24, 2022
COASY1Jan 24, 2022
COG43Jun 27, 2014
COG81Jan 24, 2022
COL11A21Jul 5, 2017
COL12A12Jan 25, 2022
COL13A12Jan 25, 2022
COL18A120Jan 25, 2022
COL3A13Jan 25, 2022
COL4A13Jan 24, 2022
COL4A21Jan 24, 2022
COL4A35Mar 9, 2023
COL4A42Mar 9, 2023
COL5A11Jul 5, 2017
COL6A137Jan 25, 2022
COL6A232Mar 9, 2023
COL6A365Jan 25, 2022
COLQ5Jul 5, 2017
COQ24Mar 9, 2023
COQ41Jun 27, 2014
COQ64Jul 5, 2017
COQ8A16Jan 24, 2022
COQ8B6Mar 9, 2023
COX151Jun 27, 2014
CP22Jan 25, 2022
CPA66Jan 23, 2022
CPLANE169Mar 9, 2023
CPS16Sep 15, 2015
CRADD3Jan 25, 2022
CRB215Mar 9, 2023
CRBN20Jan 25, 2022
CREBBP142Mar 9, 2023
CRIPT1Jan 25, 2022
CRPPA11Mar 6, 2020
CRPPA-AS13Sep 15, 2015
CRYAB1Jul 5, 2017
CSF3R54Mar 9, 2023
CSPP112Mar 9, 2023
CST33Mar 9, 2023
CSTB2Sep 15, 2015
CTBP11Jan 23, 2022
CTBP1-AS1Jan 23, 2022
CTC170Mar 9, 2023
CTCF13Jan 25, 2022
CTDP12Oct 4, 2017
CTLA43Mar 9, 2023
CTNNA14Mar 9, 2023
CTNNB119Mar 9, 2023
CTPS17Mar 9, 2023
CTSA1Sep 15, 2015
CTSD8Jun 27, 2014
CTSF2Jul 5, 2017
CUL4B11Jan 25, 2022
CUL72Jan 25, 2022
CWF19L14Jun 27, 2014
CXCR411Mar 9, 2023
CYB561D21Jan 25, 2022
CYB5A2Jan 25, 2022
CYBA1Jan 24, 2022
CYP11A16Jan 25, 2022
CYP11B15Jan 25, 2022
CYP17A14Jan 25, 2022
CYP21A21Jul 5, 2017
CYP24A12Jan 25, 2022
CYP27A12Jul 5, 2017
CYP7B12Jan 24, 2022
CZ1P-ASNS7Jan 25, 2022
D2HGDH54Dec 5, 2022
DAG19Jan 25, 2022
DARS23Jul 5, 2017
DBT5Jan 24, 2022
DCAF1710Mar 9, 2023
DCDC23Jan 25, 2022
DCLRE1B2Sep 11, 2014
DCPS1Jan 25, 2022
DCX112Jan 25, 2022
DDHD221Jan 25, 2022
DDX113Mar 9, 2023
DDX3X2Jan 25, 2022
DDX4182Mar 9, 2023
DEAF119Jan 25, 2022
DEPDC55Jan 24, 2022
DES14Jul 5, 2017
DGKE5Jan 25, 2022
DHCR245Jan 25, 2022
DHCR719Jan 25, 2022
DHFR4Mar 9, 2023
DHH3Jan 25, 2022
DHODH2Jun 27, 2014
DHX373Mar 9, 2023
DIAPH14Jan 25, 2022
DICER116Mar 9, 2023
DIPK1A15Mar 9, 2023
DIS311Mar 9, 2023
DIS3L29Mar 9, 2023
DKC120Jan 25, 2022
DLAT4Jul 5, 2017
DLG315Jan 25, 2022
DLG3-AS15Oct 4, 2017
DM1-AS2Mar 9, 2023
DMAC2L5Jan 25, 2022
DMD7Jan 25, 2022
DMP11Jul 5, 2017
DMPK4Jun 27, 2014
DMRTA25Jan 25, 2022
DNA24Jan 25, 2022
DNAI11Jan 25, 2022
DNAJB12Jul 5, 2017
DNAJB111Mar 9, 2023
DNAJC2127Mar 9, 2023
DNAJC32Jan 25, 2022
DNM13Jan 25, 2022
DNM229Oct 4, 2017
DNMT12Jan 23, 2022
DNMT3A12Jan 25, 2022
DNMT3B2Jan 25, 2022
DOCK61Jan 24, 2022
DOCK73Jan 25, 2022
DOCK846Mar 9, 2023
DOK720Jan 25, 2022
DOLK2Jan 24, 2022
DOP1A1Mar 9, 2023
DPAGT11Apr 30, 2014
DPM24Jun 27, 2014
DPYD4Jan 24, 2022
DPYD-AS11Jan 24, 2022
DSE2Mar 9, 2023
DSP1Jan 24, 2022
DTNBP111Jan 25, 2022
DUOX24Jan 25, 2022
DUT1Jan 25, 2022
DUT-AS11Jan 25, 2022
DVL11Jan 24, 2022
DYNC1H1136Jan 25, 2022
DYNC2H131Mar 9, 2023
DYNC2I11Jul 5, 2017
DYNC2LI111Jan 25, 2022
DYRK1A28Jan 25, 2022
DYRK1B10Jan 25, 2022
DYSF38Jan 25, 2022
DZIP1L2Mar 9, 2023
EBF33Jan 24, 2022
EBP35Jan 25, 2022
ECEL119Mar 6, 2020
EEF1A22Jan 25, 2022
EEF23Jul 5, 2017
EFCAB13-DT1Jan 25, 2022
EFHC120Jan 25, 2022
EFL15Mar 9, 2023
EFNB16Jan 25, 2022
EFTUD212Jan 25, 2022
EGFR13Mar 9, 2023
EGLN11Jul 5, 2017
EHMT166Jan 25, 2022
EIF2AK324Jan 25, 2022
EIF2AK3-DT1Jan 25, 2022
EIF2B11Mar 9, 2023
EIF2B32Sep 15, 2015
EIF2B42Jun 27, 2014
EIF2B52Jan 24, 2022
EIF2S37Jan 25, 2022
ELAC21Jan 23, 2022
ELANE25Mar 9, 2023
ELOVL42Jan 24, 2022
ELOVL51Sep 15, 2015
EMD1Jul 5, 2017
EML11Jan 25, 2022
ENG13Mar 9, 2023
ENPP13Jan 25, 2022
ENTPD54Jul 5, 2017
EOMES1Sep 15, 2015
EP30049Mar 9, 2023
EPAS11Jul 5, 2017
EPB41L130Jan 25, 2022
EPCAM11Mar 9, 2023
EPG51Sep 15, 2015
EPHA21Jul 5, 2017
EPM2A5Oct 4, 2017
EPM2A-DT2Oct 4, 2017
ERCC21Jul 5, 2017
ERCC31Jan 24, 2022
ERCC453Mar 9, 2023
ERCC57Jan 24, 2022
ERCC619Mar 9, 2023
ERCC6L231Mar 9, 2023
ERCC81Jun 27, 2014
ERF2Jul 5, 2017
ERLIN211Jan 25, 2022
ERMARD10Jan 25, 2022
ESCO213Jan 25, 2022
ESR14Jul 5, 2017
ESR25Mar 6, 2020
ETHE12Jul 5, 2017
ETV643Mar 9, 2023
EVC4Jan 25, 2022
EVC24Jan 25, 2022
EXO11Jul 5, 2017
EXOSC311Jan 25, 2022
EYA13Mar 9, 2023
EZH215Jan 25, 2022
EZR21Jan 25, 2022
FA2H11Jan 25, 2022
FAM111A4Jan 25, 2022
FAM20A1Mar 9, 2023
FAM20C1Jan 25, 2022
FANCA166Mar 9, 2023
FANCB27Jan 25, 2022
FANCC52Mar 9, 2023
FANCD269Mar 9, 2023
FANCD2OS15Mar 9, 2023
FANCE26Mar 9, 2023
FANCF30Jan 25, 2022
FANCG26Jan 25, 2022
FANCI75Mar 9, 2023
FANCL28Mar 9, 2023
FANCM57Mar 9, 2023
FARS21Jan 24, 2022
FAS6Jan 25, 2022
FASLG1Jan 25, 2022
FAT22Jan 23, 2022
FAT425Mar 9, 2023
FBN16Mar 9, 2023
FBN237Jan 25, 2022
FBXL39Jan 23, 2022
FBXL41Jan 24, 2022
FBXO111Jan 25, 2022
FBXO319Jan 25, 2022
FEZF14Jan 25, 2022
FEZF1-AS11Jan 25, 2022
FGA7Mar 9, 2023
FGF122Jan 25, 2022
FGF171Jan 25, 2022
FGF82Jul 5, 2017
FGFR110Mar 9, 2023
FGFR29Mar 9, 2023
FGFR310Jan 25, 2022
FH15Mar 9, 2023
FHL11Jul 5, 2017
FIG44Mar 9, 2023
FIGLA1Jan 25, 2022
FKRP29Jan 25, 2022
FKTN15Jan 25, 2022
FLCN3Mar 9, 2023
FLI14Jan 25, 2022
FLNA109Mar 9, 2023
FLNC33Jan 25, 2022
FLNC-AS112Jan 25, 2022
FLVCR12Jun 27, 2014
FLVCR21Mar 9, 2023
FMN232Jan 25, 2022
FMR111Jan 25, 2022
FOLR15Jan 25, 2022
FOXA27Jan 25, 2022
FOXE11Jul 5, 2017
FOXG144Jan 25, 2022
FOXL22Mar 9, 2023
FOXP127Jan 25, 2022
FOXP22Jan 25, 2022
FOXP315Jan 25, 2022
FOXRED11Oct 4, 2017
FRAS128Mar 9, 2023
FREM216Jan 25, 2022
FRMPD427Jan 25, 2022
FSHB1Jan 25, 2022
FTCD6Jun 27, 2014
FTL3Jan 23, 2022
FTSJ16Jan 25, 2022
FXN3Jan 24, 2022
FXYD21Jan 25, 2022
FXYD6-FXYD21Jan 25, 2022
FYB14Mar 9, 2023
G6PC311Feb 18, 2022
GAA34Dec 5, 2022
GABRA16Jul 5, 2017
GABRB32Jan 23, 2022
GABRG25Jun 27, 2014
GALC3Jan 24, 2022
GALNT122Jan 25, 2022
GAMT7Jan 25, 2022
GAN1Jun 27, 2014
GANAB1Mar 9, 2023
GAREM23Jan 25, 2022
GATA110Jan 25, 2022
GATA270Mar 9, 2023
GATA2-AS18Jan 25, 2022
GATA32Jan 25, 2022
GATA413Jan 25, 2022
GATA612Jan 25, 2022
GATAD11Jan 25, 2022
GATAD2B16Jan 25, 2022
GATM2Jun 27, 2014
GBA11Sep 15, 2015
GBA22Jan 23, 2022
GBE13Mar 6, 2020
GCDH3Jan 24, 2022
GCK102Mar 9, 2023
GCM25Mar 9, 2023
GDI114Jan 25, 2022
GEN11Jul 5, 2017
GFAP1Jan 23, 2022
GFI127Mar 9, 2023
GFI1B8Jan 25, 2022
GFPT17Jul 5, 2017
GH-LCR23Oct 4, 2017
GJA16Jan 25, 2022
GJB236Oct 4, 2017
GJC21Jul 5, 2017
GJD2-DT1Jan 24, 2022
GLB14Jan 24, 2022
GLI25Jan 25, 2022
GLI321Jan 25, 2022
GLIS23Mar 9, 2023
GLIS322Mar 9, 2023
GLIS3-AS12Mar 9, 2023
GLUD119Dec 5, 2022
GMPPB4Jan 24, 2022
GNA115Jan 25, 2022
GNAO13Jan 25, 2022
GNAS15Jan 25, 2022
GNPAT2Sep 15, 2015
GNRHR4Mar 9, 2023
GOSR22Sep 15, 2015
GP1BA18Jan 25, 2022
GP1BB5Jan 25, 2022
GP92Jan 25, 2022
GPAA12Jan 24, 2022
GPC33Jan 25, 2022
GPC41Jan 25, 2022
GPD11Jan 25, 2022
GPLD11Jul 5, 2017
GPR1438Mar 9, 2023
GPR821Sep 11, 2014
GPSM27Jan 25, 2022
GREM11Jan 25, 2022
GRIA37Mar 6, 2020
GRIK232Jan 25, 2022
GRIK31Jul 5, 2017
GRIN121Jan 25, 2022
GRIN2A44Mar 9, 2023
GRIN2B42Jan 25, 2022
GRIP13Jan 25, 2022
GRM15Jun 27, 2014
GRN2Jan 23, 2022
GSEC1Jan 25, 2022
GSKIP1Mar 9, 2023
GSN14Mar 9, 2023
GTF3C2-AS22Jun 27, 2014
GYS11Sep 11, 2014
HADH9Jan 25, 2022
HADHA4Jan 25, 2022
HAX116Feb 18, 2022
HBB2Dec 5, 2022
HCCS5Jan 25, 2022
HCFC149Jan 25, 2022
HCN12Jan 25, 2022
HDAC814Mar 9, 2023
HEPACAM4Jan 25, 2022
HERC110Jan 25, 2022
HEXA6Mar 9, 2023
HEXB6Oct 4, 2017
HFE3Apr 26, 2018
HFE-AS11Apr 26, 2018
HFM12Jul 5, 2017
HIBCH1Jan 24, 2022
HIVEP28Jan 25, 2022
HLCS1Jun 27, 2014
HMBS1Apr 30, 2014
HNF1A81Mar 9, 2023
HNF1B18Mar 9, 2023
HNF4A62Mar 9, 2023
HNRNPU2Jan 25, 2022
HNRNPUL2-BSCL29Jan 25, 2022
HOGA11Mar 9, 2023
HOXA11Jan 25, 2022
HOXA113Mar 9, 2023
HOXA133Jan 25, 2022
HOXB133Mar 9, 2023
HPRT13Jan 25, 2022
HPS123Jan 25, 2022
HPS37Jan 25, 2022
HPS411Jan 25, 2022
HPS514Jan 25, 2022
HPS614Jan 25, 2022
HRAS2Mar 9, 2023
HSD11B11Jul 5, 2017
HSD11B1-AS11Jul 5, 2017
HSD17B106Jan 25, 2022
HSD17B38Jan 25, 2022
HSD17B3-AS15Jan 25, 2022
HSD17B41Jan 24, 2022
HSD3B24Mar 9, 2023
HSPD13Jun 27, 2014
HUWE157Jan 25, 2022
IDH220Dec 5, 2022
IDH2-DT1Jan 25, 2022
IER3IP13Jan 25, 2022
IFIH11Jul 5, 2017
IFT1229Jan 25, 2022
IFT14011Jan 25, 2022
IFT17224Mar 9, 2023
IFT748Mar 9, 2023
IGBP15Jan 25, 2022
IGF1R1Jan 25, 2022
IKZF117Feb 18, 2022
IL11RA3Jan 25, 2022
IL17RD5Mar 9, 2023
IL1RAPL16Jan 25, 2022
IL2RA3Jan 25, 2022
IL4I15Sep 15, 2015
INF26Mar 9, 2023
INPP5E25Mar 9, 2023
INS45Mar 9, 2023
INS-IGF232Mar 9, 2023
INSL618Mar 9, 2023
INSR74Mar 9, 2023
INVS4Mar 9, 2023
IQCB13Jan 25, 2022
IQCG2Jul 5, 2017
IQSEC230Jan 25, 2022
IRF2BPL1Jan 24, 2022
IRF61Jul 5, 2017
ITCH2Jan 25, 2022
ITGA2B13Jan 25, 2022
ITGA719Jul 5, 2017
ITGB317Jan 25, 2022
ITK9Mar 9, 2023
ITPA1Jan 25, 2022
ITPR113Jan 24, 2022
IYD2Jul 5, 2017
JAG16Mar 9, 2023
JAK218Mar 9, 2023
JMJD85Mar 9, 2023
KAAG11Jan 25, 2022
KANK11Jan 23, 2022
KAT6A3Jan 25, 2022
KAT6B1Sep 15, 2015
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PQBP16Jan 25, 2022
PRADX2Jun 27, 2014
PRDM93Jul 5, 2017
PREPL5Jan 25, 2022
PRF116Mar 9, 2023
PRICKLE110Sep 15, 2015
PRICKLE27Sep 15, 2015
PRICKLE2-AS31Jun 27, 2014
PRKACG3Jan 25, 2022
PRKAR1A5Mar 9, 2023
PRKCG8Jan 24, 2022
PRKCSH4Mar 9, 2023
PRKN2Jan 24, 2022
PRMT76Mar 9, 2023
PRNP2Jan 24, 2022
PROK22Jan 25, 2022
PROKR24Mar 9, 2023
PROP11Jul 5, 2017
PRPH21Jan 24, 2022
PRPS12Jan 25, 2022
PRRT26Oct 4, 2017
PRSS1239Jan 25, 2022
PRSS371Jul 5, 2017
PRX6Jun 27, 2014
PSAT11Jan 24, 2022
PSMB83Jan 25, 2022
PSMD121Jan 25, 2022
PTCH124Mar 9, 2023
PTCHD117Jan 25, 2022
PTEN59Mar 9, 2023
PTF1A5Jan 25, 2022
PTH1Jan 25, 2022
PTH1R2Mar 9, 2023
PTPN1120Jan 25, 2022
PTPRJ4Mar 9, 2023
PTS1Jul 5, 2017
PURA6Jan 25, 2022
PYCR28Jan 25, 2022
PYGM1Jan 25, 2022
QARS13Mar 9, 2023
QDPR2Jan 24, 2022
R3HDML-AS113Jan 25, 2022
RAB186Jan 25, 2022
RAB232Jul 5, 2017
RAB27A2Jul 5, 2017
RAB39B5Jul 5, 2017
RAB3GAP131Jan 25, 2022
RAB3GAP234Jan 25, 2022
RAB9B6Jan 25, 2022
RAC11Jan 24, 2022
RAD2114Jan 23, 2022
RAD5016Jan 25, 2022
RAD5113Jan 25, 2022
RAD51C20Mar 9, 2023
RAD51D14Mar 9, 2023
RAD51L3-RFFL14Mar 9, 2023
RAI183Mar 9, 2023
RAPSN7Jan 25, 2022
RARS217Jan 24, 2022
RASGRP15Mar 9, 2023
RB14Mar 9, 2023
RBBP625Mar 9, 2023
RBBP830Mar 9, 2023
RBM101Jul 5, 2017
RBM8A8Feb 18, 2022
RECQL468Mar 9, 2023
REEP11Jun 27, 2014
RELN121Jan 25, 2022
REN1Jan 25, 2022
RERE1Mar 9, 2023
RET44Mar 9, 2023
RFT11Jan 24, 2022
RFX622Mar 9, 2023
RIF122Jan 24, 2022
RIN217Jan 25, 2022
RIPK46Jan 25, 2022
RIT11Jan 25, 2022
RLIG11Jun 27, 2014
RLIM1Jul 5, 2017
RMND5B4Jan 25, 2022
RNASEH11Jan 23, 2022
RNASET21Jul 5, 2017
RNF1251Jul 5, 2017
RNF1354Jan 25, 2022
RNF179Sep 15, 2015
RNF1701Apr 30, 2014
RNF2162Sep 15, 2015
RNF434Jan 25, 2022
RNU4ATAC2Jan 25, 2022
ROGDI1Jun 27, 2014
ROR221Jan 25, 2022
RP1L11Jan 24, 2022
RPGRIP1L25Mar 9, 2023
RPL102Jun 27, 2014
RPL113Jan 25, 2022
RPL158Mar 9, 2023
RPL232Jan 25, 2022
RPL262Mar 9, 2023
RPL272Mar 9, 2023
RPL311Jan 25, 2022
RPL351Mar 9, 2023
RPL35A2Jul 5, 2017
RPL517Mar 9, 2023
RPS106Jan 25, 2022
RPS10-NUDT36Jan 25, 2022
RPS171Mar 9, 2023
RPS1912Mar 9, 2023
RPS249Jan 25, 2022
RPS267Jan 25, 2022
RPS271Jan 25, 2022
RPS6KA314Jan 25, 2022
RPS75Jan 25, 2022
RRM2B1Jan 24, 2022
RS110Jan 25, 2022
RSPO11Jan 25, 2022
RTEL176Mar 9, 2023
RTEL1-TNFRSF6B76Mar 9, 2023
RTN21Jun 27, 2014
RTN4IP11Jan 23, 2022
RTTN71Jan 25, 2022
RUBCN4Jun 27, 2014
RUNX144Jan 25, 2022
RUNX1-AS15Jan 25, 2022
RUNX24Jan 25, 2022
RUVBL11Mar 9, 2023
RXYLT13Jul 5, 2017
RYR1174Jan 25, 2022
RYR21Jan 24, 2022
SACS24Jan 25, 2022
SALL15Jan 25, 2022
SALL41Jan 23, 2022
SAMD9103Mar 9, 2023
SAMD9L75Mar 9, 2023
SASS67Jan 25, 2022
SATB23Jan 25, 2022
SBDS11Mar 9, 2023
SBF235Jan 25, 2022
SBF2-AS110Jan 25, 2022
SCAMP415Jan 25, 2022
SCARB21Jan 25, 2022
SCARF25Jan 25, 2022
SCN11A1Jul 5, 2017
SCN1A39Jan 25, 2022
SCN1A-AS127Jul 5, 2017
SCN1B7Jul 5, 2017
SCN2A72Jan 25, 2022
SCN4A31Jan 25, 2022
SCN5A1Jan 23, 2022
SCN8A26Jan 25, 2022
SCN9A30Jul 5, 2017
SCNN1B2Mar 9, 2023
SCO22Jun 27, 2014
SDCCAG817Jan 25, 2022
SDHA40Mar 9, 2023
SDHAF25Jan 25, 2022
SDHB9Jan 25, 2022
SDHC4Jan 25, 2022
SDHD10Mar 9, 2023
SEC23B1Jan 25, 2022
SEC61A11Mar 9, 2023
SEC631Mar 9, 2023
SELENON12Oct 4, 2017
SEMA3A3Jan 25, 2022
SEPSECS8Mar 6, 2020
SEPT5-GP1BB5Jan 25, 2022
SERPING11Mar 9, 2023
SETBP130Mar 9, 2023
SETD224Jan 25, 2022
SETD521Jan 25, 2022
SETX12Jan 23, 2022
SF3B410Jan 25, 2022
SFTA32Mar 6, 2020
SFXN41Jul 5, 2017
SGCA5Jul 5, 2017
SGCB2Jan 25, 2022
SGCD3Jun 27, 2014
SGCE1Jul 5, 2017
SGCG6Jan 25, 2022
SGPL12Mar 9, 2023
SH2B12Jan 25, 2022
SH2B313Mar 9, 2023
SH2D1A3Jan 25, 2022
SH3TC27Jan 24, 2022
SHANK244Jan 25, 2022
SHANK318Jan 25, 2022
SHH1Jul 5, 2017
SHLD21Jan 25, 2022
SHOC21Sep 15, 2015
SHROOM430Dec 5, 2022
SIL12Jan 25, 2022
SIM19Jan 25, 2022
SIM1-AS12Jan 25, 2022
SIN3A4Jan 25, 2022
SIX56Mar 9, 2023
SKI3Jan 25, 2022
SLA1Jul 5, 2017
SLC12A11Mar 9, 2023
SLC12A619Jul 5, 2017
SLC13A53Jan 25, 2022
SLC16A117Mar 9, 2023
SLC16A228Jan 25, 2022
SLC17A52Jan 24, 2022
SLC19A19Jan 25, 2022
SLC19A25Mar 9, 2023
SLC19A310Jan 24, 2022
SLC1A11Sep 15, 2015
SLC1A21Jan 25, 2022
SLC1A32Jul 5, 2017
SLC1A46Mar 9, 2023
SLC20A23Jan 23, 2022
SLC24A54Jan 25, 2022
SLC25A19Jan 25, 2022
SLC25A1914Jan 25, 2022
SLC25A2220Jul 5, 2017
SLC26A21Jul 5, 2017
SLC26A43Jan 25, 2022
SLC26A5-AS119Jan 25, 2022
SLC29A316Sep 15, 2015
SLC2A146Jan 25, 2022
SLC2A27Jan 25, 2022
SLC30A61Jan 25, 2022
SLC33A11Jan 23, 2022
SLC34A11Mar 9, 2023
SLC34A33Jul 5, 2017
SLC35A11Jun 27, 2014
SLC35D2-HSD17B38Jan 25, 2022
SLC36A12Jan 23, 2022
SLC3A13Mar 9, 2023
SLC45A216Jan 25, 2022
SLC4A11Mar 9, 2023
SLC4A41Mar 9, 2023
SLC52A21Sep 15, 2015
SLC6A11Jan 24, 2022
SLC6A1714Jan 25, 2022
SLC6A17-AS11Jan 25, 2022
SLC6A195Jul 5, 2017
SLC6A824Jan 25, 2022
SLC9A625Jan 25, 2022
SLFN146Jan 25, 2022
SLX4146Mar 9, 2023
SMAD414Mar 9, 2023
SMAD61Jul 5, 2017
SMARCA241Jan 25, 2022
SMARCA483Mar 9, 2023
SMARCB110Jan 25, 2022
SMARCC21Jan 25, 2022
SMARCE14Jan 25, 2022
SMC1A44Jan 25, 2022
SMC336Jan 25, 2022
SMC51Mar 9, 2023
SMPD11Sep 15, 2015
SMPD42Mar 9, 2023
SMS3Sep 15, 2015
SNAP2910Jan 25, 2022
SNHG1479Mar 9, 2023
SNHG81Oct 4, 2017
SOBP34Jan 25, 2022
SOD11Jul 5, 2017
SON4Jan 25, 2022
SOS15Jan 25, 2022
SOX117Jan 25, 2022
SOX21Jan 25, 2022
SOX2-OT1Jan 25, 2022
SOX32Jan 25, 2022
SOX93Mar 9, 2023
SPART1Jun 27, 2014
SPAST4Jan 24, 2022
SPATA221Jan 24, 2022
SPATA6L1Sep 15, 2015
SPECC1L10Mar 9, 2023
SPECC1L-ADORA2A10Mar 9, 2023
SPEG5Mar 9, 2023
SPG1113Jan 24, 2022
SPG719Mar 9, 2023
SPR1Mar 9, 2023
SPRED11Jan 25, 2022
SPTAN177Jan 25, 2022
SPTBN212Jan 25, 2022
SQSTM11Jan 24, 2022
SRC6Jan 25, 2022
SRCAP14Mar 9, 2023
SRD5A211Mar 9, 2023
SRD5A34Jul 5, 2017
SRD5A3-AS11Sep 15, 2015
SRP543Jan 25, 2022
SRP7249Mar 9, 2023
SRPX216Jan 25, 2022
SRY3Jan 25, 2022
SSUH22Jun 27, 2014
ST3GAL325Jan 25, 2022
ST3GAL423Mar 6, 2020
ST3GAL54Jul 5, 2017
STAC31Jan 25, 2022
STAMBP17Jan 25, 2022
STAR2Jan 25, 2022
STAT13Jan 25, 2022
STAT36Mar 9, 2023
STIL39Jan 25, 2022
STK1118Mar 9, 2023
STON1-GTF2A1L8Mar 9, 2023
STRADA3Jan 25, 2022
STUB17Mar 9, 2023
STX162Jan 25, 2022
STX16-NPEPL12Jan 25, 2022
STXBP130Dec 5, 2022
STXBP214Mar 9, 2023
SUCLA21Mar 9, 2023
SUCLG11Sep 15, 2015
SUFU6Mar 9, 2023
SUOX2Jan 25, 2022
SURF11Jul 5, 2017
SUZ121Mar 9, 2023
SVIL1Mar 9, 2023
SYN122Jan 25, 2022
SYNE1117Mar 9, 2023
SYNE1-AS11Jul 5, 2017
SYNE277Jan 25, 2022
SYNGAP146Jan 25, 2022
SYNGAP1-AS135Jan 25, 2022
SYP4Jan 25, 2022
SYP-AS11Sep 15, 2015
SYT142Sep 15, 2015
SZT221Jan 25, 2022
TACR36Mar 9, 2023
TACR3-AS14Jan 25, 2022
TAF29Jan 25, 2022
TBC1D205Jan 25, 2022
TBC1D233Jan 25, 2022
TBC1D2422Jan 25, 2022
TBC1D432Jan 25, 2022
TBC1D73Jan 25, 2022
TBC1D7-LOC1001303573Jan 25, 2022
TBCD1Jan 23, 2022
TBCE4Jan 25, 2022
TBL1XR11Jan 25, 2022
TBP5Sep 15, 2015
TBX12Jan 25, 2022
TBX152Mar 9, 2023
TCAP4Oct 4, 2017
TCF123Jul 5, 2017
TCF205Jan 25, 2022
TCF453Jan 25, 2022
TCF4-AS13Jan 25, 2022
TCOF121Jan 25, 2022
TCTN111Mar 9, 2023
TCTN224Mar 9, 2023
TCTN310Mar 9, 2023
TECR15Mar 6, 2020
TELO23Jan 23, 2022
TERC23Mar 9, 2023
TERF2IP1Mar 9, 2023
TERT152Mar 9, 2023
TET229Mar 9, 2023
TET2-AS129Mar 9, 2023
TFG3Mar 9, 2023
TG11Jan 25, 2022
TGFBR11Jan 25, 2022
TGFBR21Jul 5, 2017
TGM11Jan 25, 2022
TGM66Jan 25, 2022
TH2LCRR1Jan 25, 2022
THAP11Jan 24, 2022
THBD4Jan 25, 2022
THG1L1Jan 24, 2022
THRA2Jan 25, 2022
THRB4Jan 25, 2022
TIA11Mar 9, 2023
TIMM501Jan 23, 2022
TIMMDC11Jan 23, 2022
TINF226Mar 9, 2023
TMEM1275Jan 25, 2022
TMEM1382Jul 5, 2017
TMEM1866Jan 25, 2022
TMEM2163Jan 24, 2022
TMEM23111Mar 9, 2023
TMEM2374Sep 15, 2015
TMEM2402Jul 5, 2017
TMEM436Jan 25, 2022
TMEM6724Jan 25, 2022
TMEM704Jun 27, 2014
TMEM942Jan 25, 2022
TMPPE2Jun 27, 2014
TMPRSS31Jul 5, 2017
TNFRSF13B5Jan 25, 2022
TNFRSF92Jan 25, 2022
TNNI27Jul 5, 2017
TNNI32Jun 27, 2014
TNNT14Jul 5, 2017
TNNT37Jul 5, 2017
TNXB3Jan 25, 2022
TOE18Jan 25, 2022
TP5346Mar 9, 2023
TP53BP14Dec 5, 2022
TPM23Jul 5, 2017
TPM32Sep 15, 2015
TPO4Jan 25, 2022
TPP112Mar 6, 2020
TPRKB1Jan 23, 2022
TRAF3IP11Mar 9, 2023
TRAIP2Jan 25, 2022
TRAPPC111Jul 5, 2017
TRAPPC9122Dec 5, 2022
TRIM325Mar 9, 2023
TRIM373Jan 25, 2022
TRIO11Jan 25, 2022
TRMT10A11Jan 25, 2022
TRNT13Mar 6, 2020
TSC120Mar 9, 2023
TSC271Mar 9, 2023
TSEN235Jan 25, 2022
TSEN3412Jan 25, 2022
TSEN5446Dec 5, 2022
TSHB1Dec 5, 2022
TSHR4Jan 25, 2022
TSPAN116Jan 25, 2022
TSPAN313Jan 25, 2022
TSPAN78Jan 25, 2022
TSPYL12Mar 9, 2023
TSTD312Mar 9, 2023
TTBK23Jan 24, 2022
TTC193Jan 24, 2022
TTC21B26Mar 9, 2023
TTC21B-AS14Oct 4, 2017
TTC36-AS11Sep 15, 2015
TTC87Jan 25, 2022
TTI215Jan 25, 2022
TTN455Mar 9, 2023
TTN-AS1234Mar 9, 2023
TTPA2Mar 9, 2023
TTR4Jan 25, 2022
TUBA1A52Jan 25, 2022
TUBA811Oct 4, 2017
TUBB2Jan 25, 2022
TUBB111Mar 9, 2023
TUBB2A6Jan 25, 2022
TUBB2B21Jan 25, 2022
TUBB328Jan 25, 2022
TUBB4A3Jan 25, 2022
TUBG17Jan 25, 2022
TUBGCP22Mar 9, 2023
TUBGCP417Dec 5, 2022
TUBGCP657Mar 9, 2023
TUSC312Jan 25, 2022
TWIST12Jan 25, 2022
TYMP3Jul 5, 2017
TYR47Jan 25, 2022
TYRP117Jan 25, 2022
UACA1Jul 5, 2017
UBA51Jan 24, 2022
UBE2A1Jul 5, 2017
UBE2T3Jan 25, 2022
UBE3A79Mar 9, 2023
UBR18Jan 25, 2022
UCP221Mar 9, 2023
UCP310Mar 9, 2023
UGT1A36Jan 25, 2022
UGT1A136Jan 25, 2022
UGT1A1036Jan 25, 2022
UGT1A336Jan 25, 2022
UGT1A436Jan 25, 2022
UGT1A536Jan 25, 2022
UGT1A636Jan 25, 2022
UGT1A736Jan 25, 2022
UGT1A836Jan 25, 2022
UGT1A936Jan 25, 2022
UIMC11Jul 5, 2017
UMOD3Mar 9, 2023
UNC13D26Mar 9, 2023
UPF3B6Jul 5, 2017
UROC13Sep 15, 2015
USB114Mar 9, 2023
USH1G1Jan 24, 2022
USP4512Mar 9, 2023
USP9X2Jan 25, 2022
UTP231Sep 11, 2014
VARS12Jan 23, 2022
VCP3Jan 25, 2022
VDR3Jan 25, 2022
VHL15Jan 25, 2022
VLDLR57Jan 25, 2022
VLDLR-AS18Jan 25, 2022
VPS13B146Mar 9, 2023
VPS13D2Jan 25, 2022
VPS33B1Jul 5, 2017
VPS4522Mar 9, 2023
VPS533Jan 25, 2022
VRK16Jul 5, 2017
VRK211Mar 9, 2023
VWF30Mar 9, 2023
WARS22Jan 24, 2022
WAS22Mar 9, 2023
WASHC421Jan 25, 2022
WASHC54Jan 23, 2022
WDPCP7Mar 9, 2023
WDR112Jan 25, 2022
WDR198Mar 9, 2023
WDR261Jan 23, 2022
WDR357Jul 5, 2017
WDR4510Jan 25, 2022
WDR62133Jan 25, 2022
WDR8116Jan 25, 2022
WFS154Mar 9, 2023
WNK41Mar 9, 2023
WNT41Jan 25, 2022
WNT5A7Oct 4, 2017
WRAP5330Mar 9, 2023
WRN30Mar 9, 2023
WT112Jan 25, 2022
WWOX24Mar 9, 2023
XDH1Mar 9, 2023
XPNPEP31Mar 9, 2023
XRCC29Mar 9, 2023
XRCC33Jan 25, 2022
ZBTB205Jan 25, 2022
ZBTB20-AS11Jan 25, 2022
ZC3H1425Jan 25, 2022
ZDHHC159Jan 25, 2022
ZDHHC2416Jan 25, 2022
ZDHHC92Jan 25, 2022
ZEB11Jul 5, 2017
ZEB266Jan 25, 2022
ZFP5716Mar 9, 2023
ZFPM212Jan 25, 2022
ZFPM2-AS111Jan 25, 2022
ZFYVE2611Jan 24, 2022
ZFYVE274Sep 15, 2015
ZIC23Jan 25, 2022
ZIC41Jun 27, 2014
ZMPSTE244Jan 25, 2022
ZMYND115Jan 25, 2022
ZNF27619Mar 9, 2023
ZNF33558Jan 25, 2022
ZNF40782Jan 25, 2022
ZNF412Jun 27, 2014
ZNF4233Mar 9, 2023
ZNF4313Jan 25, 2022
ZNF4695Jan 23, 2022
ZNF52625Jan 25, 2022
ZNF5923Sep 15, 2015
ZNF6746Jun 27, 2014
ZNF71110Jan 25, 2022
ZNF8118Jan 25, 2022
ZRANB36Mar 6, 2020
ZSWIM62Jan 25, 2022

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3Mar 6, 2020
46,XX sex reversal 11Jul 5, 2017
46,XY sex reversal 11Jul 5, 2017
46,XY sex reversal 33Jul 5, 2017
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1Jul 5, 2017
ALG6-congenital disorder of glycosylation 1C1Sep 15, 2015
Abetalipoproteinaemia1Jul 5, 2017
Abnormal cardiovascular system morphology4Sep 15, 2015
Abnormal cortical gyration10Sep 15, 2015
Acrodysostosis 2 with or without hormone resistance1Jul 5, 2017
Acute lymphoid leukemia1Jul 5, 2017
Acute myeloid leukemia4Dec 5, 2022
Adenylosuccinate lyase deficiency3Jul 5, 2017
Agenesis of the corpus callosum with peripheral neuropathy4Jul 5, 2017
Allan-Herndon-Dudley syndrome14Jul 5, 2017
Alpha-N-acetylgalactosaminidase deficiency1Jul 5, 2017
Alpha-thalassemia/intellectual disability syndrome1Oct 4, 2017
Alstrom syndrome5Jul 5, 2017
Alternating hemiplegia of childhood 27Jul 5, 2017
Amyotrophic lateral sclerosis type 11Jul 5, 2017
Androgen resistance syndrome2Jul 5, 2017
Angelman syndrome45Mar 6, 2020
Aortic aneurysm, familial thoracic 42Sep 15, 2015
Argininosuccinate lyase deficiency2Sep 15, 2015
Arthrogryposis, renal dysfunction, and cholestasis 11Jul 5, 2017
Arthyrgryposis, distal, type 2B2Sep 15, 2015
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2Jul 5, 2017
Ataxia-telangiectasia syndrome4Jul 5, 2017
Autism, susceptibility to, X-linked 41Jul 5, 2017
Autosomal dominant Robinow syndrome 16Oct 4, 2017
Autosomal dominant nocturnal frontal lobe epilepsy 31Sep 11, 2014
Autosomal dominant nocturnal frontal lobe epilepsy 51Apr 30, 2014
Autosomal dominant sensory ataxia 11Apr 30, 2014
Autosomal recessive Robinow syndrome4Sep 11, 2014
Autosomal recessive ataxia due to ubiquinone deficiency9Jul 5, 2017
Autosomal recessive ataxia, Beauce type9Jul 5, 2017
Autosomal recessive inherited pseudoxanthoma elasticum2Jul 5, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2A5Sep 15, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2B1Sep 15, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2D2Jul 5, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2L1Sep 15, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2N2Apr 30, 2014
Autosomal recessive nonsyndromic hearing loss 1A4Oct 4, 2017
Autosomal recessive nonsyndromic hearing loss 31Jul 5, 2017
Autosomal recessive nonsyndromic hearing loss 81Jul 5, 2017
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Jul 5, 2017
Autosomal recessive spinocerebellar ataxia 105Dec 5, 2022
Autosomal recessive spinocerebellar ataxia 163Jul 5, 2017
BAP1-related tumor predisposition syndrome1Jul 5, 2017
Baraitser-Winter syndrome 14Jul 5, 2017
Baraitser-winter syndrome 25Jul 5, 2017
Bardet-Biedl syndrome 12Jul 5, 2017
Bardet-Biedl syndrome 103Jul 5, 2017
Bardet-Biedl syndrome 122Jul 5, 2017
Bardet-Biedl syndrome 141Jul 5, 2017
Bardet-Biedl syndrome 51Jul 5, 2017
Beckwith-Wiedemann syndrome1Sep 15, 2015
Bernard-Soulier syndrome, type A11Jul 5, 2017
Bernard-Soulier syndrome, type B1Sep 11, 2014
Bilateral frontoparietal polymicrogyria23Sep 15, 2015
Biotinidase deficiency4Jul 5, 2017
Bleeding disorder, platelet-type, 211Jul 5, 2017
Brachydactyly, type B1Robinow syndrome, autosomal recessive2Sep 11, 2014
Brain small vessel disease 1 with or without ocular anomalies1Jul 5, 2017
Brain-lung-thyroid syndrome1Jul 5, 2017
Branched-chain keto acid dehydrogenase kinase deficiency1Jul 5, 2017
Breast cancer, early-onset5Dec 5, 2022
Breast cancer, susceptibility to7Dec 5, 2022
Breast-ovarian cancer, familial, susceptibility to, 110Dec 5, 2022
Breast-ovarian cancer, familial, susceptibility to, 25Jul 5, 2017
Breast-ovarian cancer, familial, susceptibility to, 31Jul 5, 2017
Brown-Vialetto-van Laere syndrome 21Sep 15, 2015
Brugada syndrome 91Jul 5, 2017
CHARGE association46Dec 5, 2022
CHIME syndrome19Sep 11, 2014
Centronuclear myopathy13Sep 11, 2014
Cerebellar ataxia1Sep 15, 2015
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12Sep 15, 2015
Cerebral folate transport deficiency1Jul 5, 2017
Ceroid lipofuscinosis, neuronal, 6A1Sep 15, 2015
Charcot-Marie-Tooth disease type 4K1Jul 5, 2017
Charlevoix-Saguenay spastic ataxia3Sep 15, 2015
Child syndrome7Sep 15, 2015
Cholestanol storage disease1Jul 5, 2017
Chondrodysplasia punctata 2 X-linked dominant32Sep 15, 2015
Christianson syndrome6Jul 5, 2017
Chromosome 1p32-p31 deletion syndrome1Jul 5, 2017
Chromosome 2q32-q33 deletion syndrome1Jul 5, 2017
Chédiak-Higashi syndrome1Jul 5, 2017
Citrullinemia type I2Jul 5, 2017
Coats plus syndrome2Mar 6, 2020
Cobalamin C disease1Jul 5, 2017
Cockayne syndrome type 26Jul 5, 2017
Coffin Siris/Intellectual Disability6Feb 24, 2014
Coffin-Siris syndrome 117Jul 5, 2017
Cohen syndrome6Jul 5, 2017
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas1Jul 5, 2017
Colorectal cancer, hereditary nonpolyposis, type 21Sep 15, 2015
Combined oxidative phosphorylation defect type 151Jul 5, 2017
Complex cortical dysplasia with other brain malformations 18Jul 5, 2017
Complex cortical dysplasia with other brain malformations 31Jul 5, 2017
Complex cortical dysplasia with other brain malformations 52Jul 5, 2017
Complex cortical dysplasia with other brain malformations 710Jul 5, 2017
Congenital amegakaryocytic thrombocytopenia4Jul 5, 2017
Congenital generalized lipodystrophy type 12Sep 15, 2015
Congenital generalized lipodystrophy type 23Jul 5, 2017
Congenital malabsorptive diarrhea 41Jul 5, 2017
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome3Jul 5, 2017
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies2Jul 5, 2017
Congenital muscular dystrophy due to integrin alpha-7 deficiency1Apr 30, 2014
Congenital muscular dystrophy due to partial LAMA2 deficiency1Jul 5, 2017
Congenital muscular hypertrophy-cerebral syndrome27Sep 15, 2015
Congenital myasthenic syndrome1Jul 5, 2017
Congenital myasthenic syndrome 104Jul 5, 2017
Congenital myasthenic syndrome 4C2Sep 15, 2015
Congenital myopathy 231Jul 5, 2017
Congenital myopathy with fiber type disproportion2Jul 5, 2017
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1Jul 5, 2017
Corneal dystrophy1Jul 5, 2017
Cornelia de Lange syndrome 1262Dec 5, 2022
Cornelia de Lange syndrome 323Oct 4, 2017
Cornelia de Lange syndrome 46Jul 5, 2017
Cornelia de Lange syndrome 58Sep 15, 2015
Cowden syndrome 12Jul 5, 2017
Craniofrontonasal syndrome4Jul 5, 2017
Craniosynostosis syndrome3Sep 15, 2015
Creatine transporter deficiency1Jul 5, 2017
Crigler-Najjar syndrome4Jul 5, 2017
Currarino triad1Jul 5, 2017
Cystic fibrosis1Jul 5, 2017
Cystic leukoencephalopathy without megalencephaly1Jul 5, 2017
D-2-hydroxyglutaric aciduria2Sep 15, 2015
D-2-hydroxyglutaric aciduria 13Dec 5, 2022
D-2-hydroxyglutaric aciduria 21Dec 5, 2022
DDX41-related hematologic malignancy predisposition syndrome5Dec 5, 2022
DYRK1A-related intellectual disability syndrome7Jul 5, 2017
Deficiency of ferroxidase1Jul 5, 2017
Deficiency of steroid 17-alpha-monooxygenase2Jul 5, 2017
Desmin-related myofibrillar myopathy1Jul 5, 2017
Desmosterolosis1Jul 5, 2017
Developmental and epileptic encephalopathy, 114Oct 4, 2017
Developmental and epileptic encephalopathy, 134Jul 5, 2017
Developmental and epileptic encephalopathy, 172Jul 5, 2017
Developmental and epileptic encephalopathy, 181Jul 5, 2017
Developmental and epileptic encephalopathy, 231Jul 5, 2017
Developmental and epileptic encephalopathy, 271Jul 5, 2017
Developmental and epileptic encephalopathy, 331Sep 15, 2015
Developmental and epileptic encephalopathy, 48Dec 5, 2022
Developmental and epileptic encephalopathy, 523Jul 5, 2017
Developmental and epileptic encephalopathy, 73Oct 4, 2017
Developmental and epileptic encephalopathy, 913Dec 5, 2022
Diabetes mellitus8Sep 11, 2014
Diabetes mellitus type 12Dec 5, 2022
Diabetes mellitus, transient neonatal, 22Dec 5, 2022
Diamond-Blackfan anemia 11Dec 5, 2022
Diamond-Blackfan anemia 101Sep 15, 2015
Dilated cardiomyopathy 1A6Jul 5, 2017
Distal arthrogryposis type 2B13Jul 5, 2017
Distal arthrogryposis type 5D6Jul 5, 2017
Donnai-Barrow syndrome1Sep 15, 2015
Duchenne muscular dystrophy1Sep 15, 2015
Dyskeratosis congenita6Dec 5, 2022
Dyskeratosis congenita, X-linked1Jul 5, 2017
Dyskeratosis congenita, autosomal dominant 12Jul 5, 2017
Dyskeratosis congenita, autosomal dominant 21Oct 4, 2017
Dyskeratosis congenita, autosomal dominant 31Sep 15, 2015
Dyskeratosis congenita, autosomal recessive 62Jul 5, 2017
EAST syndrome1Sep 15, 2015
Early myoclonic encephalopathy8Jul 5, 2017
Ectopic tissue90Sep 11, 2014
Ehlers-Danlos syndrome, musculocontractural type1Jul 5, 2017
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Dec 5, 2022
Encephalopathy due to GLUT1 deficiency13Sep 15, 2015
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome3Sep 11, 2014
Epidermolysis bullosa simplex 1C, localized1Jul 5, 2017
Epilepsy1Jul 5, 2017
Epilepsy, childhood absence, susceptibility to, 51Jul 5, 2017
Episodic ataxia type 24Jul 5, 2017
Ethylmalonic encephalopathy2Jul 5, 2017
Familial hypocalciuric hypercalcemia 31Jul 5, 2017
Familial infantile myasthenia2Jul 5, 2017
Familial infantile myoclonic epilepsy2Jul 5, 2017
Familial meningioma2Sep 15, 2015
Familial partial lipodystrophy, Dunnigan type9Dec 5, 2022
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1Jul 5, 2017
Fanconi anemia complementation group A9Oct 4, 2017
Fanconi anemia complementation group D21Jul 5, 2017
Fanconi anemia complementation group I1Jul 5, 2017
Fanconi anemia complementation group L1Jul 5, 2017
Fanconi anemia complementation group N1Sep 15, 2015
Febrile seizures, familial, 48Sep 11, 2014
Floating-Harbor syndrome2Sep 11, 2014
Fluorouracil response2Jul 5, 2017
Fraser syndrome 12Jul 5, 2017
Freeman-Sheldon syndrome1Dec 5, 2022
GLUT1 deficiency syndrome2Jul 5, 2017
Galactosylceramide beta-galactosidase deficiency1Sep 15, 2015
Gaucher disease type I1Sep 15, 2015
Generalized epilepsy with febrile seizures plus, type 12Jul 5, 2017
Generalized epilepsy with febrile seizures plus, type 22Apr 30, 2014
Gestational diabetes5Dec 5, 2022
Gilbert syndrome1Oct 4, 2017
Glucocorticoid deficiency with achalasia1Jul 5, 2017
Glycogen storage disease, type II2Dec 5, 2022
Glycogen storage disease, type IV1Jul 5, 2017
Goldberg-Shprintzen syndrome2Sep 11, 2014
Gray platelet syndrome2Jul 5, 2017
Greig cephalopolysyndactyly syndrome1Jul 5, 2017
Griscelli syndrome type 22Jul 5, 2017
H syndrome4Sep 15, 2015
Hb SS disease1Dec 5, 2022
Hearing impairment25Sep 11, 2014
Hemochromatosis type 12Apr 26, 2018
Hereditary spastic paraplegia 181Jul 5, 2017
Hereditary spastic paraplegia 475Jul 5, 2017
Hereditary spastic paraplegia 501Sep 15, 2015
Hereditary spastic paraplegia 78Dec 5, 2022
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11Jul 5, 2017
Hermansky-Pudlak syndrome 12Jul 5, 2017
Hermansky-Pudlak syndrome 51Jul 5, 2017
Hermansky-Pudlak syndrome 62Jul 5, 2017
Hermansky-Pudlak syndrome 71Jul 5, 2017
Holoprosencephaly 51Jul 5, 2017
Hutchinson-Gilford syndrome2Jul 5, 2017
Hydranencephaly with abnormal genitalia1Jul 5, 2017
Hydrocephalus due to aqueductal stenosis6Dec 5, 2022
Hydrocephalus, nonsyndromic, autosomal recessive 21Sep 15, 2015
Hyperbilirubinemia16Sep 15, 2015
Hyperimmunoglobulin D with periodic fever1Jul 5, 2017
Hyperinsulinemia2Dec 5, 2022
Hyperinsulinemic hypoglycemia, familial, 128Dec 5, 2022
Hyperinsulinemic hypoglycemia, familial, 28Jul 5, 2017
Hyperinsulinism due to HNF4A deficiency2Jul 5, 2017
Hyperinsulinism due to INSR deficiency1Sep 15, 2015
Hyperinsulinism due to glucokinase deficiency2Jul 5, 2017
Hyperinsulinism-hyperammonemia syndrome4Dec 5, 2022
Hypobetalipoproteinemia4Jul 5, 2017
Hypogonadotropic hypogonadism 1 with or without anosmia1Jul 5, 2017
Hypogonadotropic hypogonadism 2 with or without anosmia2Jul 5, 2017
Hypogonadotropic hypogonadism 4 with or without anosmia1Jul 5, 2017
Hypogonadotropic hypogonadism 6 with or without anosmia1Jul 5, 2017
Hypomyelinating leukodystrophy 101Jul 5, 2017
Hypomyelinating leukodystrophy 21Jul 5, 2017
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2Sep 15, 2015
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1Apr 30, 2014
Hypothyroidism due to TSH receptor mutations2Jul 5, 2017
Hypothyroidism, congenital, nongoitrous, 21Jul 5, 2017
Immunodeficiency, common variable, 21Jul 5, 2017
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1Apr 30, 2014
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3Jul 5, 2017
Intellectual disability, X-linked 12Jul 5, 2017
Intellectual disability, X-linked 191Sep 15, 2015
Intellectual disability, X-linked 721Jul 5, 2017
Intellectual disability, autosomal dominant 133Jul 5, 2017
Intellectual disability, autosomal dominant 145Jul 5, 2017
Intellectual disability, autosomal dominant 151Sep 15, 2015
Intellectual disability, autosomal dominant 163Oct 4, 2017
Intellectual disability, autosomal dominant 205Sep 15, 2015
Intellectual disability, autosomal dominant 59Jul 5, 2017
Intellectual disability, autosomal dominant 81Jul 5, 2017
Intellectual disability, autosomal dominant 94Oct 4, 2017
Intellectual disability, autosomal recessive 133Jul 5, 2017
Intellectual disability, autosomal recessive 271Jul 5, 2017
Intellectual disability, autosomal recessive 422Jul 5, 2017
Intellectual disability, autosomal recessive 441Jul 5, 2017
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Jul 5, 2017
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Jul 5, 2017
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Oct 4, 2017
Iodotyrosyl coupling defect1Jul 5, 2017
Iron accumulation in brain53Sep 11, 2014
Jalili syndrome1Jul 5, 2017
Joubert syndrome 132Sep 15, 2015
Joubert syndrome 179Jul 5, 2017
Joubert syndrome 213Jul 5, 2017
Joubert syndrome 231Jul 5, 2017
Joubert syndrome 251Jul 5, 2017
Joubert syndrome 32Sep 15, 2015
Joubert syndrome 62Sep 15, 2015
Joubert syndrome 71Sep 15, 2015
Joubert syndrome 93Jul 5, 2017
KBG syndrome2Jul 5, 2017
Kabuki syndrome 183May 9, 2021
Kabuki syndrome 24Sep 15, 2015
Kleefstra syndrome 11Jul 5, 2017
Knobloch syndrome1Sep 15, 2015
L-2-hydroxyglutaric aciduria5Jul 5, 2017
LIPE-related familial partial lipodystrophy1Jul 5, 2017
Leigh syndrome due to mitochondrial complex IV deficiency1Jul 5, 2017
Leprechaunism syndrome1Sep 15, 2015
Leukemia, acute myeloid, susceptibility to5Jul 5, 2017
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3Jul 5, 2017
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1Jul 5, 2017
Li-Fraumeni syndrome4Jul 5, 2017
Li-Fraumeni syndrome 11Apr 26, 2018
Lipodystrophy1Sep 11, 2014
Lissencephaly 47Jul 5, 2017
Lissencephaly due to LIS1 mutation95Dec 5, 2022
Lissencephaly due to TUBA1A mutation28Oct 4, 2017
Lissencephaly type 1 due to doublecortin gene mutation2Jul 5, 2017
Long QT syndrome 11Sep 15, 2015
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Jul 5, 2017
Lynch syndrome 41Jul 5, 2017
Lynch syndrome 52Jul 5, 2017
METHYLMALONIC ACIDURIA, mut(0) TYPE2Jul 5, 2017
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES1Jul 5, 2017
Macrocephaly-autism syndrome1Sep 15, 2015
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1Jul 5, 2017
Malformation of the heart and great vessels2Sep 11, 2014
Mandibulofacial dysostosis-microcephaly syndrome4Jul 5, 2017
Maple syrup urine disease type 1A1Jul 5, 2017
Maple syrup urine disease type 1B1Sep 15, 2015
Maple syrup urine disease type 21Sep 15, 2015
Marshall-Smith syndrome3Jul 5, 2017
Maturity-onset diabetes of the young type 12Jul 5, 2017
Maturity-onset diabetes of the young type 216Dec 5, 2022
Maturity-onset diabetes of the young type 35Jul 5, 2017
Maturity-onset diabetes of the young type 43Jul 5, 2017
Meckel syndrome, type 12Jul 5, 2017
Meckel syndrome, type 112Jul 5, 2017
Meckel syndrome, type 43Jul 5, 2017
Meckel syndrome, type 62Jul 5, 2017
Meckel syndrome, type 82Sep 15, 2015
Meckel syndrome, type 91Jul 5, 2017
Meckel-Gruber syndrome12Dec 5, 2022
Meier-Gorlin syndrome 23Sep 15, 2015
Meier-Gorlin syndrome 33Jul 5, 2017
Meier-Gorlin syndrome 41Apr 30, 2014
Menkes kinky-hair syndrome85Sep 15, 2015
Metachromatic leukodystrophy3Jul 5, 2017
Microcephalic osteodysplastic primordial dwarfism type II66Jul 5, 2017
Microcephalic primordial dwarfism due to ZNF335 deficiency1Sep 15, 2015
Microcephalic primordial dwarfism, Alazami type1Sep 15, 2015
Microcephaly 1, primary, autosomal recessive33Mar 6, 2020
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations38Jul 5, 2017
Microcephaly 3, primary, autosomal recessive31Dec 5, 2022
Microcephaly 4, primary, autosomal recessive2Jul 5, 2017
Microcephaly 5, primary, autosomal recessive132Jul 5, 2017
Microcephaly 6, primary, autosomal recessive19Sep 11, 2014
Microcephaly 7, primary, autosomal recessive14Sep 11, 2014
Microcephaly 9, primary, autosomal recessive41Jul 5, 2017
Microcephaly and chorioretinopathy 32Dec 5, 2022
Microcephaly and chorioretinopathy with or without intellectual disability2Sep 15, 2015
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability8Oct 4, 2017
Microcephaly, normal intelligence and immunodeficiency3Jul 5, 2017
Microcephaly, seizures, and developmental delay24Jul 5, 2017
Microcephaly-capillary malformation syndrome7Jul 5, 2017
Mitochondrial DNA depletion syndrome 11Jul 5, 2017
Mitochondrial DNA depletion syndrome 91Sep 15, 2015
Mitochondrial complex I deficiency1Jul 5, 2017
Mitochondrial complex III deficiency nuclear type 21Jul 5, 2017
Mosaic variegated aneuploidy syndrome 11Jul 5, 2017
Mowat-Wilson syndrome24Sep 7, 2018
Multiple endocrine neoplasia type 2A1Sep 15, 2015
Multiple endocrine neoplasia, type 11Jul 5, 2017
Muscular dystrophy20Jul 5, 2017
Muscular dystrophy-dystroglycanopathy6Jul 5, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31Sep 15, 2015
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Jul 5, 2017
Myoclonic dystonia 111Jul 5, 2017
Myoclonic epilepsy, juvenile, susceptibility to, 11Sep 15, 2015
Myopathy16Sep 15, 2015
Myopathy, centronuclear, 25Sep 11, 2014
Nager syndrome4Sep 15, 2015
Nemaline myopathy 28Jul 5, 2017
Nemaline myopathy 3, autosomal dominant or recessive3Jul 5, 2017
Neonatal insulin-dependent diabetes mellitus6Sep 11, 2014
Neonatal-onset encephalopathy with rigidity and seizures2Jul 5, 2017
Nephronophthisis 12Jul 5, 2017
Neurodegeneration with brain iron accumulation 2B4Jul 5, 2017
Neurodegeneration with brain iron accumulation 45Jul 5, 2017
Neurodegeneration with brain iron accumulation 55Sep 15, 2015
Neuroferritinopathy1Sep 11, 2014
Neurofibromatosis, type 11Jul 5, 2017
Neuronal ceroid lipofuscinosis1Jul 5, 2017
Neuronal ceroid lipofuscinosis 11Jul 5, 2017
Neuronal ceroid lipofuscinosis 132Jul 5, 2017
Neuronal ceroid lipofuscinosis 22Jul 5, 2017
Neuronal ceroid lipofuscinosis 53Jul 5, 2017
Neuronal ceroid lipofuscinosis 81Sep 15, 2015
Neutral 1 amino acid transport defect1Jul 5, 2017
Nicolaides-Baraitser syndrome5Mar 6, 2020
Niemann-Pick disease, type A1Sep 15, 2015
Niemann-Pick disease, type C15Jul 5, 2017
Nijmegen breakage syndrome-like disorder1Jul 5, 2017
Noonan syndrome1Jul 5, 2017
Noonan syndrome-like disorder with loose anagen hair 11Sep 15, 2015
Norman-Roberts syndrome5Sep 15, 2015
Obesity due to pro-opiomelanocortin deficiency1Jul 5, 2017
Obesity, autosomal dominant4Jul 5, 2017
Oculocutaneous albinism type 32Jul 5, 2017
Oculocutaneous albinism type 44Jul 5, 2017
Oculocutaneous albinism type 61Jul 5, 2017
Oculodentodigital dysplasia4Jul 5, 2017
Olivopontocerebellar hypoplasia9Sep 11, 2014
Orofaciodigital syndrome I2Sep 11, 2014
PMM2-congenital disorder of glycosylation1Dec 5, 2022
PPARG-related familial partial lipodystrophy7Jul 5, 2017
Pancreatic agenesis 13Jul 5, 2017
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1Sep 15, 2015
Paragangliomas 41Jul 5, 2017
Peripheral neuropathy1Sep 11, 2014
Periventricular heterotopia with microcephaly, autosomal recessive1Jul 5, 2017
Permanent neonatal diabetes mellitus7Jul 5, 2017
Peroxisome biogenesis disorder1Jul 5, 2017
Persistent truncus arteriosus1Apr 30, 2014
Pettigrew syndrome3Jul 5, 2017
Pfeiffer syndrome1Jul 5, 2017
Phelan-McDermid syndrome1Jul 5, 2017
Phenylketonuria1Jul 5, 2017
Pheochromocytoma1Sep 15, 2015
Pitt-Hopkins syndrome23Jul 5, 2017
Pituitary hypothyroidism1Dec 5, 2022
Polymicrogyria with optic nerve hypoplasia1Sep 11, 2014
Pontocerebellar hypoplasia type 1B4Jul 5, 2017
Pontocerebellar hypoplasia type 2A3Sep 15, 2015
Pontocerebellar hypoplasia type 2B8Sep 15, 2015
Pontocerebellar hypoplasia type 2C1Sep 11, 2014
Pontocerebellar hypoplasia type 62Jul 5, 2017
Pontocerebellar hypoplasia type 81Sep 15, 2015
Progressive myoclonic epilepsy type 61Sep 15, 2015
Pseudo-TORCH syndrome 16Jul 5, 2017
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12Jul 5, 2017
Pulmonary hypertension, primary, 31Apr 30, 2014
Pyruvate carboxylase deficiency1Jul 5, 2017
Pyruvate dehydrogenase E2 deficiency1Jul 5, 2017
Rafiq syndrome1Sep 15, 2015
Rett syndrome50Oct 4, 2017
Rett syndrome, congenital variant21Mar 6, 2020
Rhabdoid tumor predisposition syndrome 23Sep 15, 2015
Rhizomelic chondrodysplasia punctata type 16Jul 5, 2017
Roberts-SC phocomelia syndrome8Sep 15, 2015
Rothmund-Thomson syndrome1Jul 5, 2017
Rubinstein-Taybi syndrome due to CREBBP mutations81Oct 4, 2017
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency8Sep 15, 2015
SHORT syndrome2Dec 5, 2022
Sandhoff disease2Jul 5, 2017
Schinzel-Giedion syndrome13Sep 15, 2015
Schizophrenia1Sep 15, 2015
Schuurs-Hoeijmakers syndrome1Jul 5, 2017
Seckel syndrome 115Jul 5, 2017
Seckel syndrome 21Apr 30, 2014
Seckel syndrome 49Sep 15, 2015
Seckel syndrome 61Sep 15, 2015
Seckel syndrome 71Sep 15, 2015
Seizure11Jul 5, 2017
Seizures, benign familial infantile, 33Apr 30, 2014
Senior-Loken syndrome 73Sep 15, 2015
Severe X-linked myotubular myopathy138Jul 5, 2017
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Sep 15, 2015
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome3Jul 5, 2017
Severe intellectual disability-progressive spastic diplegia syndrome1Jul 5, 2017
Short-rib thoracic dysplasia 8 with or without polydactyly1Jul 5, 2017
Shprintzen-Goldberg syndrome1Jul 5, 2017
Shwachman-Diamond syndrome 12Dec 5, 2022
Sialidosis1Jul 5, 2017
Simpson-Golabi-Behmel syndrome type 11Sep 15, 2015
Smith-Lemli-Opitz syndrome1Mar 6, 2020
Sotos syndrome198Jul 5, 2017
Spinal muscular atrophy, lower extremity-predominant, 2, AD1Sep 15, 2015
Spinocerebellar ataxia type 131Jul 5, 2017
Spinocerebellar ataxia type 142Jul 5, 2017
Spinocerebellar ataxia type 19/221Sep 15, 2015
Spinocerebellar ataxia type 211Jul 5, 2017
Spinocerebellar ataxia type 341Jul 5, 2017
Spinocerebellar ataxia type 421Jul 5, 2017
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Sep 15, 2015
Subcortical laminar heterotopia, X-linked2Jul 5, 2017
Succinate-semialdehyde dehydrogenase deficiency1Jul 5, 2017
Syndromic X-linked intellectual disability Claes-Jensen type2Sep 15, 2015
Syndromic X-linked intellectual disability Najm type22Jul 5, 2017
Syndromic X-linked intellectual disability Nascimento type1Jul 5, 2017
TARP syndrome1Jul 5, 2017
TCF12-related craniosynostosis1Jul 5, 2017
Tay-Sachs disease1Sep 15, 2015
Telangiectasia, hereditary hemorrhagic, type 11Jul 5, 2017
Testosterone 17-beta-dehydrogenase deficiency2Jul 5, 2017
Thrombocytopenia 21Jul 5, 2017
Thrombocytopenia 51Jul 5, 2017
Thyroid hormone resistance syndrome2Jul 5, 2017
Tibial muscular dystrophy4Apr 30, 2014
Treacher Collins syndrome 13Jul 5, 2017
Type 1 diabetes mellitus 21Apr 30, 2014
Tyrosinase-negative oculocutaneous albinism37Jul 5, 2017
Tyrosinase-positive oculocutaneous albinism20Mar 6, 2020
Unverricht-Lundborg syndrome1Sep 15, 2015
Upshaw-Schulman syndrome1Jul 5, 2017
Usher syndrome type 31Sep 15, 2015
Very long chain acyl-CoA dehydrogenase deficiency1Jul 5, 2017
Vici syndrome1Sep 15, 2015
Von Hippel-Lindau syndrome1Jul 5, 2017
Warburg micro syndrome 12Jul 5, 2017
Warburg micro syndrome 21Jul 5, 2017
Weaver syndrome5Sep 15, 2015
Wiedemann-Steiner syndrome10Jul 5, 2017
Wilson disease25Dec 5, 2022
Wolcott-Rallison dysplasia2Jul 5, 2017
Wolfram syndrome7Jul 5, 2017
Woodhouse-Sakati syndrome1Sep 15, 2015
X-linked chondrodysplasia punctata 12Sep 11, 2014
X-linked intellectual disability, Cantagrel type2Jul 5, 2017
X-linked intellectual disability-cerebellar hypoplasia syndrome3Sep 11, 2014
X-linked lissencephaly with abnormal genitalia22Jul 5, 2017
Xeroderma pigmentosum, type F/Cockayne syndrome1Jul 5, 2017
beta Thalassemia1Jul 5, 2017
epileptic encephalopathy, early infanitle, 110Sep 11, 2014
not provided1434Mar 9, 2023
not specified19713Mar 9, 2023

Testing in GTR

Disease nameNumber of tests
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-M syndrome1 test
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
3-methylglutaconic aciduria type 12 tests
3-methylglutaconic aciduria, type VIIB1 test
46,XX sex reversal 11 test
46,XX sex reversal 41 test
46,XY disorder of sex development2 tests
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 12 tests
46,XY sex reversal 21 test
46,XY sex reversal 62 tests
46,XY sex reversal 72 tests
46,XY sex reversal 92 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
ADan amyloidosis1 test
Abdominal obesity-metabolic syndrome 32 tests
Acampomelic campomelic dysplasia with autosomal sex reversal1 test
Acquired hemoglobin H disease1 test
Acquired partial lipodystrophy3 tests
Acrocallosal syndrome1 test
Acrodysostosis 1 with or without hormone resistance2 tests
Acrodysostosis 2 with or without hormone resistance2 tests
Acromelic frontonasal dysostosis1 test
Actin accumulation myopathy3 tests
Action myoclonus-renal failure syndrome1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute myeloid leukemia5 tests
Adenylosuccinate lyase deficiency2 tests
Adrenal hypoplasia, congenital, with precocious puberty1 test
Adrenoleukodystrophy2 tests
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi Goutieres syndrome1 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Albinism1 test
Albright hereditary osteodystrophy1 test
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease1 test
Allan-Herndon-Dudley syndrome4 tests
Alpha mannosidosis type II1 test
Alpha thalassemia-X-linked intellectual disability syndrome4 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha-thalassemia/intellectual disability syndrome1 test
Alstrom syndrome1 test
Alternating hemiplegia of childhood2 tests
Alzheimer disease 31 test
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
Amelocerebrohypohidrotic syndrome1 test
Aminoacylase 1 deficiency1 test
Amish lethal microcephaly1 test
Amyotrophic lateral sclerosis type 11 test
Androgen resistance syndrome2 tests
Angelman syndrome7 tests
Aniridia 12 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aplastic anemia1 test
Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus1 test
Argininosuccinate lyase deficiency1 test
Aromatase deficiency2 tests
Aromatase excess syndrome1 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B1 test
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome1 test
Asphyxiating thoracic dystrophy 32 tests
Asphyxiating thoracic dystrophy 51 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
Ataxia - oculomotor apraxia type 42 tests
Ataxia with oculomotor apraxia type 31 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia-pancytopenia syndrome5 tests
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder1 test
Atypical hemolytic-uremic syndrome1 test
Autoimmune disease1 test
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
Autoimmune lymphoproliferative syndrome type 2A1 test
Autoimmune lymphoproliferative syndrome, type 1a1 test
Autoimmune lymphoproliferative syndrome, type 1b1 test
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia1 test
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant Opitz G/BBB syndrome1 test
Autosomal dominant aplasia and myelodysplasia1 test
Autosomal dominant centronuclear myopathy3 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
Autosomal dominant limb-girdle muscular dystrophy type 1G2 tests
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant polycystic kidney disease2 tests
Autosomal dominant polycystic liver disease1 test
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive Dejerine-Sottas syndrome1 test
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive Robinow syndrome3 tests
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive infantile hypercalcemia1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2T2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
Autosomal recessive limb-girdle muscular dystrophy type R182 tests
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive primary microcephaly1 test
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 111 test
Autosomal recessive spinocerebellar ataxia 121 test
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 151 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 171 test
Autosomal recessive spinocerebellar ataxia 181 test
Autosomal recessive spinocerebellar ataxia 21 test
Autosomal recessive spinocerebellar ataxia 201 test
Azorean disease1 test
Bailey-Bloch congenital myopathy2 tests
Baller-Gerold syndrome1 test
Bamforth-Lazarus syndrome1 test
Band heterotopia of brain1 test
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome4 tests
Bardet-Biedl syndrome 112 tests
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 61 test
Bartsocas-Papas syndrome 11 test
Basal ganglia calcification, idiopathic, 61 test
Beckwith-Wiedemann syndrome2 tests
Benign hereditary chorea1 test
Bernard Soulier syndrome1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Beta-thalassemia-X-linked thrombocytopenia syndrome2 tests
Bethlem myopathy 1A2 tests
Bethlem myopathy 22 tests
Bilateral frontoparietal polymicrogyria2 tests
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency1 test
Bloom syndrome2 tests
Bone marrow failure syndrome 32 tests
Bone marrow failure syndrome 51 test
Borjeson-Forssman-Lehmann syndrome2 tests
Brain small vessel disease 1 with or without ocular anomalies1 test
Brain-lung-thyroid syndrome1 test
Branchiootorenal Spectrum Disorders1 test
Breast and/or ovarian cancer3 tests
Breast cancer, susceptibility to3 tests
Breast neoplasm5 tests
Breast-ovarian cancer, familial, susceptibility to, 21 test
Breast-ovarian cancer, familial, susceptibility to, 41 test
C syndrome1 test
C3 deficiency1 test
CADDS1 test
CARASIL syndrome1 test
CEDNIK syndrome1 test
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED1 test
CHARGE association4 tests
CHIME syndrome1 test
Campomelic dysplasia with autosomal sex reversal1 test
Carcinoma of colon1 test
Carcinoma of pancreas1 test
Cardiac valvular dysplasia, X-linked1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Carney complex1 test
Carney-Stratakis syndrome1 test
Carpenter syndrome1 test
Cayman type cerebellar ataxia1 test
Central core myopathy3 tests
Central hypothyroidism1 test
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency1 test
Cerebellar ataxia and hypergonadotropic hypogonadism1 test
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome2 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
Cerebellar ataxia-hypogonadism syndrome1 test
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1 test
Cerebral creatine deficiency syndrome2 tests
Cerebral folate transport deficiency2 tests
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease type 2B11 test
Charlevoix-Saguenay spastic ataxia2 tests
Child syndrome1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2 tests
Childhood onset GLUT1 deficiency syndrome 22 tests
Cholestanol storage disease2 tests
Chorea-acanthocytosis1 test
Christianson syndrome3 tests
Chronic mucocutaneous candidiasis1 test
Chédiak-Higashi syndrome1 test
Citrullinemia type I1 test
Classic Hodgkin lymphoma1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Cleidocranial dysostosis1 test
Coats plus syndrome2 tests
Cobblestone lissencephaly without muscular or ocular involvement1 test
Cockayne syndrome1 test
Coenzyme Q10 deficiency1 test
Coenzyme Q10 deficiency, primary, 11 test
Coffin-Siris syndrome1 test
Coffin-Siris syndrome 12 tests
Coffin-Siris syndrome 51 test
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2 tests
Cognitive impairment with or without cerebellar ataxia1 test
Cohen syndrome1 test
Cohen-Gibson syndrome1 test
Cole-Carpenter syndrome 21 test
Collagen IV-related nephropathies1 test
Colorectal cancer4 tests
Colorectal cancer, hereditary nonpolyposis, type 61 test
Colorectal cancer, susceptibility to, 121 test
Combined immunodeficiency1 test
Combined immunodeficiency due to LRBA deficiency2 tests
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation deficiency1 test
Combined pituitary hormone deficiencies, genetic form1 test
Common variable immunodeficiency1 test
Complete trisomy 21 syndrome2 tests
Complex cortical dysplasia with other brain malformations1 test
Complex cortical dysplasia with other brain malformations 11 test
Complex cortical dysplasia with other brain malformations 21 test
Complex cortical dysplasia with other brain malformations 41 test
Complex cortical dysplasia with other brain malformations 62 tests
Compton-North congenital myopathy3 tests
Congenital adrenal hyperplasia2 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
Congenital amegakaryocytic thrombocytopenia3 tests
Congenital bile acid synthesis defect 31 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital cerebellar hypoplasia1 test
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay2 tests
Congenital defect of folate absorption1 test
Congenital disorder of glycosylation5 tests
Congenital disorder of glycosylation type 1E2 tests
Congenital dyserythropoietic anemia, type II1 test
Congenital generalized lipodystrophy type 13 tests
Congenital generalized lipodystrophy type 24 tests
Congenital generalized lipodystrophy type 34 tests
Congenital generalized lipodystrophy type 42 tests
Congenital hyperammonemia, type I1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital multicore myopathy with external ophthalmoplegia3 tests
Congenital muscular dystrophy due to LMNA mutation2 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
Congenital myasthenic syndrome3 tests
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 123 tests
Congenital myasthenic syndrome 133 tests
Congenital myasthenic syndrome 143 tests
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 163 tests
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 192 tests
Congenital myasthenic syndrome 4A2 tests
Congenital myasthenic syndrome 4C3 tests
Congenital myasthenic syndrome 53 tests
Congenital myasthenic syndrome 72 tests
Congenital myasthenic syndrome 82 tests
Congenital myopathy3 tests
Congenital myopathy 233 tests
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion2 tests
Congenital myopathy with internal nuclei and atypical cores3 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Cortical dysplasia-focal epilepsy syndrome1 test
Cowden syndrome5 tests
Cranioectodermal dysplasia1 test
Cranioectodermal dysplasia 41 test
Craniofrontonasal syndrome3 tests
Craniosynostosis 62 tests
Craniosynostosis and dental anomalies1 test
Craniosynostosis syndrome1 test
Crigler-Najjar syndrome1 test
Cryptophthalmos syndrome1 test
Currarino triad1 test
Curry-Hall syndrome1 test
Cutis laxa1 test
Cyclical neutropenia1 test
Cystic leukoencephalopathy without megalencephaly1 test
Cytochrome c oxidase I deficiency1 test
D-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 21 test
DDX41-related hematologic malignancy predisposition syndrome1 test
DICER1-related tumor predisposition1 test
DNA ligase IV deficiency3 tests
DOORS syndrome2 tests
DPM3-congenital disorder of glycosylation2 tests
DYRK1A-related intellectual disability syndrome4 tests
Dandy-Walker syndrome1 test
Danon disease2 tests
De Lange syndrome2 tests
Deafness dystonia syndrome1 test
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of ferroxidase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of steroid 17-alpha-monooxygenase2 tests
Dentatorubral-pallidoluysian atrophy1 test
Desmin-related myofibrillar myopathy2 tests
Desmosterolosis1 test
Developmental and epileptic encephalopathy 943 tests
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 112 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 142 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 163 tests
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 192 tests
Developmental and epileptic encephalopathy, 23 tests
Developmental and epileptic encephalopathy, 212 tests
Developmental and epileptic encephalopathy, 242 tests
Developmental and epileptic encephalopathy, 252 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 272 tests
Developmental and epileptic encephalopathy, 283 tests
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 312 tests
Developmental and epileptic encephalopathy, 322 tests
Developmental and epileptic encephalopathy, 42 tests
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 511 test
Developmental and epileptic encephalopathy, 72 tests
Developmental and epileptic encephalopathy, 82 tests
Developmental and epileptic encephalopathy, 93 tests
Developmental delay with autism spectrum disorder and gait instability2 tests
Developmental delay with short stature, dysmorphic facial features, and sparse hair1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
DiGeorge syndrome1 test
Diabetes mellitus2 tests
Diabetes mellitus, transient neonatal, 11 test
Diamond-Blackfan anemia3 tests
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 112 tests
Diamond-Blackfan anemia 122 tests
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 82 tests
Diamond-Blackfan anemia 91 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
Dihydropteridine reductase deficiency1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Distal arthrogryposis1 test
Distal arthrogryposis type 2B11 test
Distal arthrogryposis type 5D1 test
Donnai-Barrow syndrome1 test
Dopa-responsive dystonia1 test
Drash syndrome3 tests
Dyskeratosis congenita5 tests
Dyskeratosis congenita, autosomal dominant 63 tests
Dyskeratosis congenita, autosomal recessive 11 test
Dyskeratosis congenita, autosomal recessive 52 tests
Dyskinesia with orofacial involvement, autosomal dominant1 test
Dyssynergia1 test
Dystonia 161 test
Dystonia 241 test
Dystonia 251 test
Dystonia 28, childhood-onset1 test
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
Dystonic disorder3 tests
EAST syndrome1 test
Early infantile epileptic encephalopathy with suppression bursts4 tests
Early myoclonic encephalopathy2 tests
Early-onset Lafora body disease1 test
Early-onset myopathy with fatal cardiomyopathy1 test
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1 test
Ehlers-Danlos syndrome3 tests
Ehlers-Danlos syndrome, kyphoscoliotic type, 22 tests
Ehlers-Danlos syndrome, musculocontractural type3 tests
Eichsfeld type congenital muscular dystrophy2 tests
Emery-Dreifuss muscular dystrophy2 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency3 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
Endocrine-cerebro-osteodysplasia syndrome1 test
Epilepsy2 tests
Epilepsy, childhood absence, susceptibility to, 52 tests
Epilepsy, progressive myoclonic, 2b1 test
Ethylmalonic encephalopathy3 tests
Exercise-induced hyperinsulinism1 test
Exudative vitreoretinopathy 71 test
FG syndrome 13 tests
FG syndrome 21 test
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1 test
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 23 tests
Familial aplasia of the vermis5 tests
Familial cancer of breast5 tests
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hyperinsulinism2 tests
Familial hypocalciuric hypercalcemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypoparathyroidism1 test
Familial infantile myasthenia1 test
Familial infantile myoclonic epilepsy3 tests
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 11 test
Familial melanoma2 tests
Familial multiple polyposis syndrome3 tests
Familial partial lipodystrophy3 tests
Familial partial lipodystrophy, Dunnigan type3 tests
Familial partial lipodystrophy, Kobberling type3 tests
Familial thoracic aortic aneurysm and aortic dissection1 test
Fanconi anemia3 tests
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group B1 test
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group D11 test
Fanconi anemia complementation group D21 test
Fanconi anemia complementation group E1 test
Fanconi anemia complementation group F1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group I1 test
Fanconi anemia complementation group J2 tests
Fanconi anemia complementation group L1 test
Fanconi anemia complementation group N4 tests
Fanconi anemia complementation group O3 tests
Fanconi anemia complementation group P1 test
Fanconi anemia complementation group Q1 test
Fanconi anemia complementation group R2 tests
Fanconi anemia complementation group T2 tests
Fanconi anemia complementation group U1 test
Fanconi anemia, complementation group S1 test
Feingold syndrome1 test
Floating-Harbor syndrome1 test
Focal segmental glomerulosclerosis1 test
Fragile X-associated tremor/ataxia syndrome2 tests
Freeman-Sheldon syndrome1 test
Friedreich ataxia2 tests
Friedreich ataxia 11 test
Friedreich ataxia 21 test
Frontometaphyseal dysplasia1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 22 tests
Fucosidosis1 test
Fumarase deficiency1 test
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis3 tests
GM1 gangliosidosis1 test
GM1 gangliosidosis type 31 test
GM2-gangliosidosis, B, B1, AB variant1 test
GM3 synthase deficiency2 tests
GNE myopathy2 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Galactosialidosis, adult1 test
Galactosylceramide beta-galactosidase deficiency1 test
Galloway-Mowat syndrome 11 test
Gamma-glutamylcysteine synthetase deficiency1 test
Gastrointestinal stromal tumor1 test
Gaucher disease due to saposin C deficiency1 test
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
Generalized juvenile polyposis/juvenile polyposis coli3 tests
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Glanzmann thrombasthenia1 test
Glioma susceptibility 95 tests
Glucocorticoid deficiency with achalasia1 test
Glutaric aciduria, type 11 test
Glutathione synthetase deficiency without 5-oxoprolinuria1 test
Glycogen storage disease2 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease, type II2 tests
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V2 tests
Goldberg-Shprintzen syndrome2 tests
Gray platelet syndrome1 test
Greig cephalopolysyndactyly syndrome2 tests
Griscelli syndrome type 11 test
Griscelli syndrome type 21 test
Griscelli syndrome type 31 test
Hand-foot-genital syndrome1 test
Hecht syndrome1 test
Hemolytic anemia1 test
Hemolytic anemia due to glucophosphate isomerase deficiency1 test
Hemolytic-uremic syndrome1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary amyloidosis1 test
Hereditary breast ovarian cancer syndrome9 tests
Hereditary diffuse gastric adenocarcinoma3 tests
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary episodic ataxia1 test
Hereditary hemorrhagic telangiectasia1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary nonpolyposis colon cancer7 tests
Hereditary pheochromocytoma-paraganglioma2 tests
Hereditary sideroblastic anemia2 tests
Hereditary spastic paraplegia1 test
Hereditary spastic paraplegia 171 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 561 test
Hereditary spastic paraplegia 571 test
Hereditary spastic paraplegia 621 test
Hereditary spastic paraplegia 751 test
Hereditary spastic paraplegia 771 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hermansky-Pudlak syndrome1 test
Heterotopia, periventricular, X-linked dominant1 test
Hogue-Janssens syndrome 11 test
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly sequence1 test
Homocystinuria1 test
Hoyeraal-Hreidarsson syndrome1 test
Hydrocephalus1 test
Hydrolethalus syndrome 21 test
Hyper-IgE recurrent infection syndrome 3, autosomal recessive1 test
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinemic hypoglycemia, familial, 21 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperkalemic periodic paralysis1 test
Hypermanganesemia with dystonia 21 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
Hyperparathyroidism1 test
Hyperphenylalaninemia due to DNAJC12 deficiency1 test
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency2 tests
Hypertensive disorder1 test
Hypertrichosis cubiti-short stature syndrome1 test
Hypertrophic cardiomyopathy2 tests
Hypertrophic cardiomyopathy 91 test
Hypobetalipoproteinemia1 test
Hypocalcemia1 test
Hypocalcemia, autosomal dominant, with bartter syndrome1 test
Hypoceruloplasminemia2 tests
Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia2 tests
Hypogonadotropic hypogonadism 18 with or without anosmia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 20 with or without anosmia1 test
Hypogonadotropic hypogonadism 22 with or without anosmia2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy3 tests
Hypoparathyroidism1 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatemic rickets2 tests
Hypospadias 2, X-linked1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hypotonia1 test
Hypotonia, ataxia, and delayed development syndrome1 test
IMAGe syndrome2 tests
Idiopathic basal ganglia calcification 11 test
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 141 test
Immunodeficiency 231 test
Immunodeficiency, common variable, 21 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia2 tests
Infantile bilateral striatal necrosis2 tests
Infantile cerebellar-retinal degeneration1 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile convulsions and choreoathetosis1 test
Infantile neuroaxonal dystrophy2 tests
Infantile onset spinocerebellar ataxia1 test
Infantile-onset ascending hereditary spastic paralysis2 tests
Inherited bone marrow failure syndrome1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder with autism and macrocephaly1 test
Intellectual disability1 test
Intellectual disability, CASK-related, X-linked2 tests
Intellectual disability, X-linked, syndromic, 352 tests
Intellectual disability, X-linked, syndromic, Bain type1 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Intellectual disability, autosomal dominant 12 tests
Intellectual disability, autosomal dominant 132 tests
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 271 test
Intellectual disability, autosomal dominant 401 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 431 test
Intellectual disability, autosomal dominant 52 tests
Intellectual disability, autosomal recessive 132 tests
Intellectual disability, autosomal recessive 341 test
Intellectual disability, autosomal recessive 432 tests
Intellectual disability, autosomal recessive 461 test
Intellectual disability, autosomal recessive 531 test
Intellectual disability, profound4 tests
Interstitial lung disease 22 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Irinotecan response1 test
Johanson-Blizzard syndrome2 tests
Joubert syndrome 11 test
Joubert syndrome 102 tests
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 152 tests
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 183 tests
Joubert syndrome 21 test
Joubert syndrome 201 test
Joubert syndrome 212 tests
Joubert syndrome 221 test
Joubert syndrome 231 test
Joubert syndrome 31 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Juberg-Marsidi syndrome1 test
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile myelomonocytic leukemia1 test
Juvenile myoclonic epilepsy2 tests
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome2 tests
KBG syndrome2 tests
Kabuki syndrome2 tests
Kabuki syndrome 11 test
Keppen-Lubinsky syndrome3 tests
Kleefstra syndrome 11 test
Knobloch syndrome1 test
Kufor-Rakeb syndrome3 tests
L-2-hydroxyglutaric aciduria3 tests
LEOPARD syndrome 11 test
LIPE-related familial partial lipodystrophy2 tests
Landau-Kleffner syndrome2 tests
Leigh syndrome2 tests
Lesch-Nyhan syndrome1 test
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome2 tests
Lethal osteosclerotic bone dysplasia1 test
Leukemia, acute lymphoblastic, susceptibility to1 test
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukodystrophy2 tests
Leukoencephalopathy1 test
Leukoencephalopathy with mild cerebellar ataxia and white matter edema1 test
Leukoencephalopathy, progressive, with ovarian failure2 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
Leydig cell agenesis2 tests
Leydig cell hypoplasia, type II1 test
Li-Fraumeni syndrome8 tests
Li-Fraumeni syndrome 21 test
Li-fraumeni-like syndrome1 test
Lichtenstein-Knorr syndrome1 test
Limb-girdle muscular dystrophy3 tests
Limb-girdle muscular dystrophy due to POMK deficiency2 tests
Linear skin defects with multiple congenital anomalies 13 tests
Lipoyl transferase 1 deficiency1 test
Lissencephaly2 tests
Lissencephaly 42 tests
Lissencephaly 6 with microcephaly2 tests
Lissencephaly 7 with cerebellar hypoplasia1 test
Lissencephaly 81 test
Loeys-Dietz syndrome 21 test
Luscan-Lumish syndrome1 test
Lymphoma1 test
Lymphoma, non-Hodgkin, familial1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 21 test
MEGF10-related myopathy2 tests
MEHMO syndrome1 test
MERRF syndrome1 test
MIRAGE syndrome4 tests
MYH7-related skeletal myopathy2 tests
Macrocephaly1 test
Macrocephaly and epileptic encephalopathy1 test
Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
Malan overgrowth syndrome1 test
Malignant hyperthermia of anesthesia1 test
Malignant hyperthermia, susceptibility to, 12 tests
Malignant tumor of esophagus1 test
Malignant tumor of thyroid gland1 test
Mandibular hypoplasia-deafness-progeroid syndrome3 tests
Mandibuloacral dysplasia with type B lipodystrophy3 tests
Mandibulofacial dysostosis-microcephaly syndrome2 tests
Maple syrup urine disease1 test
Marinesco-Sjögren syndrome3 tests
Marshall-Smith syndrome1 test
Mast syndrome2 tests
Maturity onset diabetes mellitus in young2 tests
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 22 tests
Maturity-onset diabetes of the young type 31 test
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome1 test
Meckel syndrome, type 12 tests
Meckel syndrome, type 102 tests
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 42 tests
Meckel syndrome, type 52 tests
Meckel syndrome, type 62 tests
Meckel syndrome, type 82 tests
Meckel syndrome, type 92 tests
Meckel-Gruber syndrome4 tests
Megaconial type congenital muscular dystrophy3 tests
Megalencephalic leukoencephalopathy with subcortical cysts3 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Meier-Gorlin syndrome2 tests
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Meier-Gorlin syndrome 71 test
Melanoma2 tests
Melnick-Needles syndrome1 test
Menkes kinky-hair syndrome1 test
Merosin deficient congenital muscular dystrophy3 tests
Metachromatic leukodystrophy2 tests
Metaphyseal chondrodysplasia, Jansen type1 test
Methemoglobinemia type 42 tests
Methylmalonic acidemia1 test
Mevalonic aciduria1 test
Microcephalic osteodysplastic primordial dwarfism type II2 tests
Microcephalic primordial dwarfism due to RTTN deficiency1 test
Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
Microcephalic primordial dwarfism, Alazami type1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 13, primary, autosomal recessive1 test
Microcephaly 14, primary, autosomal recessive1 test
Microcephaly 15, primary, autosomal recessive1 test
Microcephaly 17, primary, autosomal recessive2 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive2 tests
Microcephaly 6, primary, autosomal recessive