Invitae, Invitae

General information

Invitae, Invitae

1400 16th Street
San Francisco
California
United States - 94103
https://www.invitae.com/
Organization ID: 500031

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 133573

Gene

GeneSubmissionsLast Updated
A2ML177Mar 14, 2017
AARS145Aug 29, 2018
ABAT46Aug 29, 2018
ABCC9121Aug 29, 2018
ABCD181Aug 29, 2018
ABCD410Aug 29, 2018
ABCG52Apr 2, 2018
ABRAXAS146Mar 14, 2017
ACAD813Aug 29, 2018
ACADM55Aug 29, 2018
ACADS35Aug 29, 2018
ACADSB15Aug 29, 2018
ACADVL129Aug 29, 2018
ACAT18Aug 29, 2018
ACD26Aug 29, 2018
ACOX15Aug 29, 2018
ACP518Aug 29, 2018
ACSF39Aug 29, 2018
ACTA155Aug 29, 2018
ACTA258Aug 29, 2018
ACTB21Aug 29, 2018
ACTC157Aug 29, 2018
ACTG110Apr 2, 2018
ACTN2206Aug 29, 2018
ACVR2B13Aug 29, 2018
ACVRL1114Aug 29, 2018
ADA25Aug 29, 2018
ADA237Aug 29, 2018
ADAM1725Aug 29, 2018
ADAMTS299Aug 29, 2018
ADAR33Aug 29, 2018
ADSL58Aug 29, 2018
AFF42Aug 29, 2018
AGA7Aug 29, 2018
AGK7Aug 29, 2018
AGL242Aug 29, 2018
AGRN261Aug 29, 2018
AHCY8Aug 29, 2018
AHI148Aug 29, 2018
AICDA13Aug 29, 2018
AIFM125Aug 29, 2018
AIPL17Aug 29, 2018
AIRE58Aug 29, 2018
AK216Aug 29, 2018
AKAP9257Aug 29, 2018
AKT1101Aug 29, 2018
AKT25Apr 2, 2018
AKT35Aug 29, 2018
ALDH18A129Aug 29, 2018
ALDH1A33Apr 2, 2018
ALDH4A115Aug 29, 2018
ALDH5A185Aug 29, 2018
ALDH7A184Aug 29, 2018
ALDOA4Aug 29, 2018
ALDOB3Aug 29, 2018
ALG113Aug 29, 2018
ALG1111Aug 29, 2018
ALG129Aug 29, 2018
ALG1369Aug 29, 2018
ALG1414Aug 29, 2018
ALG232Aug 29, 2018
ALG32Aug 29, 2018
ALG68Aug 29, 2018
ALG85Aug 29, 2018
ALG97Apr 2, 2018
ALK703Aug 29, 2018
ALMS1319Aug 29, 2018
ALS260Aug 29, 2018
AMACR3Aug 29, 2018
AMN8Aug 29, 2018
AMPD17Aug 29, 2018
AMPD213Aug 29, 2018
AMT27Aug 29, 2018
ANK2383Aug 29, 2018
ANKRD145Aug 29, 2018
ANKRD1113Aug 29, 2018
ANKS636Aug 29, 2018
ANO323Aug 29, 2018
ANO5108Aug 29, 2018
ANOS17Aug 29, 2018
AP3B138Aug 29, 2018
AP4B128Aug 29, 2018
AP4E127Aug 29, 2018
AP4M124Aug 29, 2018
AP4S110Aug 29, 2018
AP5Z188Aug 29, 2018
APC2498Aug 29, 2018
APOB292Aug 29, 2018
APP7Aug 29, 2018
AR54Aug 29, 2018
ARG113Aug 29, 2018
ARHGEF1587Aug 29, 2018
ARHGEF928Aug 29, 2018
ARL13B10Aug 29, 2018
ARL62Aug 29, 2018
ARL6IP15Aug 29, 2018
ARMC496Aug 29, 2018
ARSA27Aug 29, 2018
ARSB8Aug 29, 2018
ARSE3Oct 5, 2017
ARSI16Aug 29, 2018
ARX57Aug 29, 2018
ASL30Aug 29, 2018
ASPA6Aug 29, 2018
ASS148Aug 29, 2018
ATL148Aug 29, 2018
ATL345Aug 29, 2018
ATM3251Aug 29, 2018
ATP13A258Aug 29, 2018
ATP1A294Aug 29, 2018
ATP1A395Aug 29, 2018
ATP2A173Aug 29, 2018
ATP6AP215Aug 29, 2018
ATP6V0A29Aug 29, 2018
ATP7A87Aug 29, 2018
ATP7B96Aug 29, 2018
ATRX108Aug 29, 2018
AUH9Aug 29, 2018
AXIN2733Aug 29, 2018
B2M1Apr 2, 2018
B3GALNT246Aug 29, 2018
B3GALT66Aug 29, 2018
B3GAT34Aug 29, 2018
B3GLCT5Aug 29, 2018
B4GALNT125Aug 29, 2018
B4GALT71Apr 2, 2018
B4GAT126Aug 29, 2018
B9D19Apr 2, 2018
B9D25Oct 5, 2017
BAG3147Aug 29, 2018
BAP1333Aug 29, 2018
BARD1787Aug 29, 2018
BBS133Aug 29, 2018
BBS1028Aug 29, 2018
BBS1229Aug 29, 2018
BBS220Aug 29, 2018
BBS422Aug 29, 2018
BBS515Aug 29, 2018
BBS719Aug 29, 2018
BBS944Aug 29, 2018
BCKDHA15Aug 29, 2018
BCKDHB23Aug 29, 2018
BCKDK1Aug 29, 2018
BCL106Aug 29, 2018
BCOR43Aug 29, 2018
BFSP114Aug 29, 2018
BFSP26Apr 2, 2018
BICD284Aug 29, 2018
BIN162Aug 29, 2018
BLM555Aug 29, 2018
BLNK20Aug 29, 2018
BLOC1S66Aug 29, 2018
BMP43Apr 2, 2018
BMPR1A368Aug 29, 2018
BMPR1B5Aug 29, 2018
BMPR230Aug 29, 2018
BRAF60Aug 29, 2018
BRAT1171Aug 29, 2018
BRCA12086Nov 5, 2018
BRCA23729Aug 29, 2018
BRIP11072Aug 29, 2018
BSCL260Aug 29, 2018
BTD43Aug 29, 2018
BTK25Aug 29, 2018
BUB1B121Aug 29, 2018
C12orf5723Aug 29, 2018
C12orf653Aug 29, 2018
C19orf1214Aug 29, 2018
C1GALT1C11Oct 5, 2017
C1QTNF53Aug 29, 2018
CA5A4Aug 29, 2018
CACNA1A227Aug 29, 2018
CACNA1C381Aug 29, 2018
CACNA1C-AS11Apr 2, 2018
CACNA1H417Aug 29, 2018
CACNA1S220Aug 29, 2018
CACNA2D157Aug 29, 2018
CACNA2D2131Aug 29, 2018
CACNB285Aug 29, 2018
CACNB432Aug 29, 2018
CALM111Aug 29, 2018
CALM212Aug 29, 2018
CALM314Aug 29, 2018
CALR347Aug 29, 2018
CAPN3144Aug 29, 2018
CARD1166Aug 29, 2018
CARD1490Aug 29, 2018
CARD943Aug 29, 2018
CARS261Aug 29, 2018
CASK37Aug 29, 2018
CASP1031Aug 29, 2018
CASP814Aug 29, 2018
CASQ253Aug 29, 2018
CASR338Aug 29, 2018
CAV14Aug 29, 2018
CAV353Aug 29, 2018
CBL135Aug 29, 2018
CBLIF10Aug 29, 2018
CBS139Aug 29, 2018
CC2D2A51Aug 29, 2018
CCDC10317Aug 29, 2018
CCDC11481Aug 29, 2018
CCDC15143Aug 29, 2018
CCDC39109Aug 29, 2018
CCDC40162Aug 29, 2018
CCDC6534Aug 29, 2018
CCDC7878Aug 29, 2018
CCM211Aug 29, 2018
CCNO32Aug 29, 2018
CCT524Aug 29, 2018
CD24715Aug 29, 2018
CD2711Aug 29, 2018
CD3203Aug 29, 2018
CD3D8Apr 2, 2018
CD3E10Aug 29, 2018
CD3G11Aug 29, 2018
CD40LG13Aug 29, 2018
CD79A10Aug 29, 2018
CD79B7Aug 29, 2018
CD8A9Aug 29, 2018
CDC73155Aug 29, 2018
CDH1909Aug 29, 2018
CDK4121Aug 29, 2018
CDKL577Aug 29, 2018
CDKN1B122Aug 29, 2018
CDKN1C231Aug 29, 2018
CDKN2A289Aug 29, 2018
CDON11Apr 2, 2018
CEBPA141Aug 29, 2018
CEBPE11Aug 29, 2018
CEP10415Aug 29, 2018
CEP12016Aug 29, 2018
CEP16429Aug 29, 2018
CEP290119Aug 29, 2018
CEP416Aug 29, 2018
CEP5743Aug 29, 2018
CEP8311Aug 29, 2018
CERS133Aug 29, 2018
CFAP29828Aug 29, 2018
CFAP528Aug 29, 2018
CFAP537Apr 2, 2018
CFL27Aug 29, 2018
CFTR223Aug 29, 2018
CHAT78Aug 29, 2018
CHCHD1025Aug 29, 2018
CHD2138Aug 29, 2018
CHD7211Aug 29, 2018
CHEK2860Aug 29, 2018
CHIT16Aug 29, 2018
CHKB28Aug 29, 2018
CHMP2B4Aug 29, 2018
CHMP4B1Apr 2, 2018
CHRM215Aug 29, 2018
CHRNA143Aug 29, 2018
CHRNA274Aug 29, 2018
CHRNA4141Aug 29, 2018
CHRNB137Aug 29, 2018
CHRNB253Aug 29, 2018
CHRND50Aug 29, 2018
CHRNE78Aug 29, 2018
CHST1411Aug 29, 2018
CHST34Aug 29, 2018
CHST64Apr 2, 2018
CHSY17Aug 29, 2018
CIITA57Aug 29, 2018
CIZ126Aug 29, 2018
CLCN1134Aug 29, 2018
CLCN412Mar 14, 2017
CLN374Aug 29, 2018
CLN562Aug 29, 2018
CLN656Aug 29, 2018
CLN848Aug 29, 2018
CLPB37Aug 29, 2018
CNTN153Aug 29, 2018
CNTN268Aug 29, 2018
CNTNAP2195Aug 29, 2018
COASY4Aug 29, 2018
COG13Aug 29, 2018
COG25Aug 29, 2018
COG410Aug 29, 2018
COG513Aug 29, 2018
COG69Aug 29, 2018
COG73Aug 29, 2018
COG83Oct 5, 2017
COL12A1232Aug 29, 2018
COL1A1258Aug 29, 2018
COL1A2140Aug 29, 2018
COL3A1235Aug 29, 2018
COL5A1441Aug 29, 2018
COL5A2198Aug 29, 2018
COL6A1210Aug 29, 2018
COL6A2255Aug 29, 2018
COL6A3395Aug 29, 2018
COLQ44Aug 29, 2018
COPA28Aug 29, 2018
COQ438Aug 29, 2018
CORO1A13Aug 29, 2018
CP26Aug 29, 2018
CPA632Aug 29, 2018
CPLANE186Aug 29, 2018
CPS147Aug 29, 2018
CPT1A25Aug 29, 2018
CPT1C17Aug 29, 2018
CPT282Aug 29, 2018
CR250Aug 29, 2018
CRB113Aug 29, 2018
CREBBP48Aug 29, 2018
CRELD118Apr 2, 2018
CRPPA52Aug 29, 2018
CRTAP32Aug 29, 2018
CRX1Oct 5, 2017
CRYAA7Aug 29, 2018
CRYAB28Aug 29, 2018
CRYBA13Aug 29, 2018
CRYBA44Aug 29, 2018
CRYBB14Aug 29, 2018
CRYBB27Aug 29, 2018
CRYBB36Apr 2, 2018
CRYGB4Aug 29, 2018
CRYGC7Apr 2, 2018
CRYGD9Aug 29, 2018
CRYGS2Apr 2, 2018
CSF2RA23Aug 29, 2018
CSF3R35Aug 29, 2018
CSPP123Aug 29, 2018
CSRP359Aug 29, 2018
CSTB23Aug 29, 2018
CTC1106Aug 29, 2018
CTF117Aug 29, 2018
CTLA422Aug 29, 2018
CTNNA135Mar 14, 2017
CTNNA3105Aug 29, 2018
CTNS16Aug 29, 2018
CTPS114Aug 29, 2018
CTRC34Aug 29, 2018
CTSA6Aug 29, 2018
CTSC11Aug 29, 2018
CTSD71Aug 29, 2018
CTSF2Aug 29, 2018
CUBN51Aug 29, 2018
CUL4B9Aug 29, 2018
CXCR46Aug 29, 2018
CYBA21Aug 29, 2018
CYBB20Aug 29, 2018
CYP1B112Aug 29, 2018
CYP27A19Aug 29, 2018
CYP2U112Aug 29, 2018
CYP7B127Aug 29, 2018
D2HGDH6Aug 29, 2018
DAG177Aug 29, 2018
DBH9Aug 29, 2018
DBT21Aug 29, 2018
DCAF174Aug 29, 2018
DCDC210Aug 29, 2018
DCLRE1B16Aug 29, 2018
DCLRE1C41Aug 29, 2018
DCTN1131Aug 29, 2018
DDC5Aug 29, 2018
DDHD128Aug 29, 2018
DDHD226Aug 29, 2018
DDOST5Aug 29, 2018
DECR11Apr 2, 2018
DEPDC5232Aug 29, 2018
DES133Aug 29, 2018
DHCR726Aug 29, 2018
DHDDS4Aug 29, 2018
DHH2Apr 2, 2018
DHTKD18Aug 29, 2018
DIAPH170Aug 29, 2018
DICER11069Aug 29, 2018
DIS3L2381Aug 29, 2018
DKC122Aug 29, 2018
DLAT3Aug 29, 2018
DLD8Aug 29, 2018
DMD844Aug 29, 2018
DNAAF1102Aug 29, 2018
DNAAF288Aug 29, 2018
DNAAF375Aug 29, 2018
DNAAF441Aug 29, 2018
DNAAF5103Aug 29, 2018
DNAH1283Aug 29, 2018
DNAH11536Aug 29, 2018
DNAH5500Aug 29, 2018
DNAH8324Aug 29, 2018
DNAI175Aug 29, 2018
DNAI271Aug 29, 2018
DNAJB228Aug 29, 2018
DNAJB624Aug 29, 2018
DNAJC194Aug 29, 2018
DNAJC532Aug 29, 2018
DNAJC611Aug 29, 2018
DNAL114Aug 29, 2018
DNM155Aug 29, 2018
DNM2118Aug 29, 2018
DNMT1128Aug 29, 2018
DNMT3A20Aug 29, 2018
DNMT3B37Aug 29, 2018
DOCK278Aug 29, 2018
DOCK7134Aug 29, 2018
DOCK8132Aug 29, 2018
DOK7100Aug 29, 2018
DOLK57Aug 29, 2018
DPAGT118Aug 29, 2018
DPM130Aug 29, 2018
DPM28Aug 29, 2018
DPM36Aug 29, 2018
DRC170Aug 29, 2018
DRD212Aug 29, 2018
DSC2160Aug 29, 2018
DSE4Aug 29, 2018
DSG2182Aug 29, 2018
DSP497Aug 29, 2018
DST220Aug 29, 2018
DTNA44Aug 29, 2018
DYNC1H1365Aug 29, 2018
DYNC2H1103Aug 29, 2018
DYRK1A58Aug 29, 2018
DYSF283Aug 29, 2018
EDA52Aug 29, 2018
EDAR26Aug 29, 2018
EDARADD6Aug 29, 2018
EED3Aug 29, 2018
EEF1A244Aug 29, 2018
EFEMP261Aug 29, 2018
EFHC178Aug 29, 2018
EGFR1Aug 29, 2018
EGLN124Aug 29, 2018
EGR245Aug 29, 2018
EHMT1163Aug 29, 2018
ELAC262Aug 29, 2018
ELANE30Aug 29, 2018
ELN63Aug 29, 2018
ELP1124Aug 29, 2018
EMD50Aug 29, 2018
ENG222Aug 29, 2018
ENO35Aug 29, 2018
ENTPD16Apr 2, 2018
EOGT2Aug 29, 2018
EP30030Aug 29, 2018
EPCAM137Oct 25, 2018
EPG592Aug 29, 2018
EPHA228Aug 29, 2018
EPM2A58Aug 29, 2018
ERCC461Aug 29, 2018
ERF16Aug 29, 2018
ERLIN11Oct 5, 2017
ERLIN214Aug 29, 2018
ETFA9Aug 29, 2018
ETFB8Aug 29, 2018
ETFDH25Aug 29, 2018
ETHE16Aug 29, 2018
EVC39Aug 29, 2018
EVC246Aug 29, 2018
EXOSC36Aug 29, 2018
EXT149Aug 29, 2018
EXT234Aug 29, 2018
EYA119Aug 29, 2018
EYA469Aug 29, 2018
EZH233Aug 29, 2018
F21Aug 29, 2018
F53Aug 29, 2018
F912Aug 29, 2018
FA2H23Aug 29, 2018
FADD6Aug 29, 2018
FAH17Aug 29, 2018
FAM126A8Aug 29, 2018
FANCA338Aug 29, 2018
FANCB61Aug 29, 2018
FANCC247Aug 29, 2018
FANCD2106Aug 29, 2018
FANCE72Aug 29, 2018
FANCF50Aug 29, 2018
FANCG80Aug 29, 2018
FANCI180Aug 29, 2018
FANCL55Aug 29, 2018
FANCM134Aug 29, 2018
FARS243Aug 29, 2018
FAS17Aug 29, 2018
FASLG11Aug 29, 2018
FASN278Aug 29, 2018
FBN1816Aug 29, 2018
FBN2373Aug 29, 2018
FBP19Aug 29, 2018
FBXO3868Aug 29, 2018
FBXO75Apr 2, 2018
FERMT329Aug 29, 2018
FGD471Aug 29, 2018
FGFR123Aug 29, 2018
FGFR247Aug 29, 2018
FGFR358Aug 29, 2018
FH291Aug 29, 2018
FHL157Aug 29, 2018
FHL228Aug 29, 2018
FIG497Aug 29, 2018
FKBP1418Aug 29, 2018
FKRP114Aug 29, 2018
FKTN82Aug 29, 2018
FLCN330Aug 29, 2018
FLNA337Aug 29, 2018
FLNC700Aug 29, 2018
FLRT136Aug 29, 2018
FOLR122Aug 29, 2018
FOXC129Aug 29, 2018
FOXE31Oct 5, 2017
FOXG156Aug 29, 2018
FOXH124Aug 29, 2018
FOXN129Aug 29, 2018
FOXP313Aug 29, 2018
FPR116Aug 29, 2018
FRRS1L45Aug 29, 2018
FTCD19Aug 29, 2018
FTL3Aug 29, 2018
FUCA110Aug 29, 2018
FUS18Aug 29, 2018
FYCO129Apr 2, 2018
G6PC14Aug 29, 2018
G6PC313Aug 29, 2018
G6PD16Aug 29, 2018
GAA302Aug 29, 2018
GABBR241Aug 29, 2018
GABRA135Aug 29, 2018
GABRA610Oct 5, 2017
GABRB226Aug 29, 2018
GABRB354Aug 29, 2018
GABRD43Aug 29, 2018
GABRG244Aug 29, 2018
GAD13Aug 29, 2018
GAL16Aug 29, 2018
GALC29Aug 29, 2018
GALE6Aug 29, 2018
GALK18Aug 29, 2018
GALNS32Aug 29, 2018
GALNT1260Mar 14, 2017
GALT44Aug 29, 2018
GAMT62Aug 29, 2018
GAN66Aug 29, 2018
GARS96Aug 29, 2018
GAS838Aug 29, 2018
GATA115Aug 29, 2018
GATA2165Aug 29, 2018
GATA482Aug 29, 2018
GATA648Aug 29, 2018
GATAD119Aug 29, 2018
GATM27Aug 29, 2018
GBA238Aug 29, 2018
GBE118Aug 29, 2018
GCDH41Aug 29, 2018
GCH127Aug 29, 2018
GCNT26Aug 29, 2018
GCSH14Aug 29, 2018
GDAP164Aug 29, 2018
GDF126Aug 29, 2018
GDF215Aug 29, 2018
GDF32Apr 2, 2018
GDF63Apr 2, 2018
GFI122Aug 29, 2018
GFPT133Aug 29, 2018
GJA116Aug 29, 2018
GJA310Aug 29, 2018
GJA511Aug 29, 2018
GJA88Aug 29, 2018
GJB198Aug 29, 2018
GJB66Apr 2, 2018
GJC216Aug 29, 2018
GLA67Aug 29, 2018
GLB111Aug 29, 2018
GLDC132Aug 29, 2018
GLI218Aug 29, 2018
GLI361Aug 29, 2018
GLIS220Aug 29, 2018
GLRA160Aug 29, 2018
GLRB7Aug 29, 2018
GLUD15Aug 29, 2018
GLUL1Apr 2, 2018
GM2A1Apr 2, 2018
GMPPA2Aug 29, 2018
GMPPB44Aug 29, 2018
GNAL12Aug 29, 2018
GNAO136Aug 29, 2018
GNB431Aug 29, 2018
GNE54Aug 29, 2018
GNPTAB9Aug 29, 2018
GNS2Aug 29, 2018
GOSR228Aug 29, 2018
GPC3144Aug 29, 2018
GPD1L43Aug 29, 2018
GPHN42Aug 29, 2018
GREM15Aug 29, 2018
GRHL34Oct 5, 2017
GRIN156Aug 29, 2018
GRIN2A146Aug 29, 2018
GRIN2B115Aug 29, 2018
GRN18Aug 29, 2018
GSS1Aug 29, 2018
GUCY2D14Aug 29, 2018
GUSB10Aug 29, 2018
GYG17Aug 29, 2018
GYS16Aug 29, 2018
GYS216Aug 29, 2018
HADH2Apr 2, 2018
HADHA13Aug 29, 2018
HADHB13Aug 29, 2018
HAMP9Apr 2, 2018
HAND17Apr 2, 2018
HARS43Aug 29, 2018
HAX110Aug 29, 2018
HCFC19Aug 29, 2018
HCN183Aug 29, 2018
HCN4213Aug 29, 2018
HDAC85Aug 29, 2018
HESX12Apr 2, 2018
HEXA20Aug 29, 2018
HEXB13Aug 29, 2018
HFE20Aug 29, 2018
HGD2Aug 29, 2018
HGSNAT14Aug 29, 2018
HIBCH2Aug 29, 2018
HINT110Aug 29, 2018
HJV16Aug 29, 2018
HLCS26Aug 29, 2018
HMBS1Aug 29, 2018
HMGCL8Aug 29, 2018
HMGCS213Aug 29, 2018
HNRNPA2B114Aug 29, 2018
HNRNPDL32Aug 29, 2018
HNRNPU86Aug 29, 2018
HNRNPUL2-BSCL21Aug 29, 2018
HOXB131Mar 14, 2017
HPD16Aug 29, 2018
HPRT15Aug 29, 2018
HPS32Apr 2, 2018
HRAS83Aug 29, 2018
HSD17B47Aug 29, 2018
HSF410Aug 29, 2018
HSPB147Aug 29, 2018
HSPB39Aug 29, 2018
HSPB829Aug 29, 2018
HSPD122Apr 2, 2018
HYAL11Apr 2, 2018
IBA5711Aug 29, 2018
ICOS9Aug 29, 2018
IDH23Aug 29, 2018
IDS17Aug 29, 2018
IDUA29Aug 29, 2018
IER3IP18Aug 29, 2018
IFIH154Aug 29, 2018
IFNGR120Aug 29, 2018
IFNGR218Aug 29, 2018
IFT12214Aug 29, 2018
IFT14033Aug 29, 2018
IFT17218Aug 29, 2018
IFT8015Apr 2, 2018
IGHMBP2185Aug 29, 2018
IGLL131Aug 29, 2018
IKBKB23Aug 29, 2018
IL103Aug 29, 2018
IL10RA36Aug 29, 2018
IL10RB13Aug 29, 2018
IL12B19Aug 29, 2018
IL12RB140Aug 29, 2018
IL17F8Aug 29, 2018
IL17RA56Aug 29, 2018
IL17RC45Aug 29, 2018
IL1RN15Aug 29, 2018
IL21R26Aug 29, 2018
IL2RA14Aug 29, 2018
IL2RG25Aug 29, 2018
IL36RN11Aug 29, 2018
IL7R33Aug 29, 2018
ILK20Aug 29, 2018
INF2143Aug 29, 2018
INPP5E31Aug 29, 2018
INS3Apr 2, 2018
INVS46Aug 29, 2018
IQCB112Aug 29, 2018
IQSEC269Aug 29, 2018
IRAK420Aug 29, 2018
IRF624Aug 29, 2018
IRF723Aug 29, 2018
IRF828Aug 29, 2018
ISG159Aug 29, 2018
ITCH16Aug 29, 2018
ITGA2B2Aug 29, 2018
ITGA7123Aug 29, 2018
ITGB252Aug 29, 2018
ITK20Aug 29, 2018
ITPA39Aug 29, 2018
IVD27Aug 29, 2018
JAG177Aug 29, 2018
JAGN111Aug 29, 2018
JAK349Aug 29, 2018
JMJD1C138Aug 29, 2018
JPH280Aug 29, 2018
JUP142Aug 29, 2018
KANSL1133Aug 29, 2018
KAT6B6Aug 29, 2018
KBTBD1384Aug 29, 2018
KCNA117Aug 29, 2018
KCNA234Aug 29, 2018
KCNA562Aug 29, 2018
KCNB162Aug 29, 2018
KCNC156Aug 29, 2018
KCND227Aug 29, 2018
KCND335Aug 29, 2018
KCNE135Aug 29, 2018
KCNE219Aug 29, 2018
KCNE310Aug 29, 2018
KCNE510Aug 29, 2018
KCNH2431Aug 29, 2018
KCNH572Aug 29, 2018
KCNJ1038Aug 29, 2018
KCNJ252Aug 29, 2018
KCNJ531Aug 29, 2018
KCNJ815Aug 29, 2018
KCNK315Aug 29, 2018
KCNMA169Aug 29, 2018
KCNQ1255Aug 29, 2018
KCNQ2180Aug 29, 2018
KCNQ397Aug 29, 2018
KCNT1265Aug 29, 2018
KCTD175Aug 29, 2018
KCTD742Aug 29, 2018
KDM5C12Aug 29, 2018
KDM6A8Aug 29, 2018
KIAA058638Aug 29, 2018
KIF1A249Aug 29, 2018
KIF1B85Aug 29, 2018
KIF1C38Aug 29, 2018
KIF5A31Aug 29, 2018
KIF739Aug 29, 2018
KIT547Aug 29, 2018
KLHL4065Aug 29, 2018
KLHL4128Aug 29, 2018
KMT2D108Aug 29, 2018
KPNA718Mar 14, 2017
KPTN12Aug 29, 2018
KRAS21Aug 29, 2018
KRIT141Aug 29, 2018
L1CAM48Aug 29, 2018
L2HGDH8Aug 29, 2018
LAMA2342Aug 29, 2018
LAMA4155Aug 29, 2018
LAMB281Aug 29, 2018
LAMP262Aug 29, 2018
LARGE169Aug 29, 2018
LAS1L17Aug 29, 2018
LCK13Aug 29, 2018
LDB3154Aug 29, 2018
LDHA4Apr 2, 2018
LDLR286Aug 29, 2018
LDLRAP124Aug 29, 2018
LEFTY221Aug 29, 2018
LFNG4Apr 2, 2018
LGI144Aug 29, 2018
LIAS49Aug 29, 2018
LIG434Aug 29, 2018
LIM23Apr 2, 2018
LIMS237Aug 29, 2018
LIPA6Aug 29, 2018
LITAF31Aug 29, 2018
LMBRD17Aug 29, 2018
LMNA235Aug 29, 2018
LMNB259Aug 29, 2018
LMOD370Aug 29, 2018
LOC1005073461Oct 5, 2017
LPIN255Aug 29, 2018
LRBA137Aug 29, 2018
LRP480Aug 29, 2018
LRRC1027Aug 29, 2018
LRRC633Aug 29, 2018
LRRK244Aug 29, 2018
LRSAM1122Aug 29, 2018
LTBP316Aug 29, 2018
LYST145Aug 29, 2018
MAF9Aug 29, 2018
MAG20Aug 29, 2018
MAGT19Aug 29, 2018
MALT118Aug 29, 2018
MAN1B112Aug 29, 2018
MAN2B115Aug 29, 2018
MANBA11Aug 29, 2018
MAOA4Aug 29, 2018
MAP2K127Aug 29, 2018
MAP2K257Aug 29, 2018
MAP3K115Aug 29, 2018
MAP3K1428Aug 29, 2018
MAPT22Aug 29, 2018
MARS60Aug 29, 2018
MASP18Aug 29, 2018
MAT1A22Aug 29, 2018
MAT2A14Apr 2, 2018
MATR330Aug 29, 2018
MAX55Aug 29, 2018
MBD5136Aug 29, 2018
MC1R83Aug 29, 2018
MCCC149Aug 29, 2018
MCCC239Aug 29, 2018
MCEE3Apr 2, 2018
MCIDAS24Aug 29, 2018
MCOLN110Aug 29, 2018
MDM24Apr 2, 2018
MECP2144Aug 29, 2018
MED12101Aug 29, 2018
MED13L51Aug 29, 2018
MED231Oct 5, 2017
MED2588Aug 29, 2018
MEF2C20Aug 29, 2018
MEFV72Aug 29, 2018
MEGF1091Aug 29, 2018
MEGF860Aug 29, 2018
MEIS25Aug 29, 2018
MEN1475Aug 29, 2018
MET488Aug 29, 2018
MFN2152Aug 29, 2018
MFRP6Aug 29, 2018
MFSD860Aug 29, 2018
MGAT25Aug 29, 2018
MIP7Aug 29, 2018
MITF1Aug 29, 2018
MKKS11Aug 29, 2018
MKS131Aug 29, 2018
MLH11006Aug 29, 2018
MLH3155Aug 29, 2018
MLYCD25Aug 29, 2018
MMAA8Aug 29, 2018
MMAB11Aug 29, 2018
MMACHC24Aug 29, 2018
MMADHC6Apr 2, 2018
MMUT32Aug 29, 2018
MOCOS8Aug 29, 2018
MOCS16Aug 29, 2018
MOGS41Aug 29, 2018
MORC292Aug 29, 2018
MPDU15Aug 29, 2018
MPI9Aug 29, 2018
MPL23Aug 29, 2018
MPZ94Aug 29, 2018
MRE11275Aug 29, 2018
MSH21340Aug 29, 2018
MSH61923Aug 29, 2018
MSX112Aug 29, 2018
MSX24Aug 29, 2018
MTHFR13Aug 29, 2018
MTM134Aug 29, 2018
MTMR268Aug 29, 2018
MTO134Aug 29, 2018
MTOR37Mar 14, 2017
MTR21Aug 29, 2018
MTRR13Aug 29, 2018
MUSK70Aug 29, 2018
MUTYH574Aug 29, 2018
MVK31Aug 29, 2018
MYBPC3550Aug 29, 2018
MYD8812Aug 29, 2018
MYF614Aug 29, 2018
MYH11341Aug 29, 2018
MYH2117Aug 29, 2018
MYH6328Aug 29, 2018
MYH7628Aug 29, 2018
MYL265Aug 29, 2018
MYL341Aug 29, 2018
MYL418Aug 29, 2018
MYLK290Aug 29, 2018
MYLK258Aug 29, 2018
MYOM1221Aug 29, 2018
MYOT43Aug 29, 2018
MYOZ225Aug 29, 2018
MYPN186Aug 29, 2018
NADK25Aug 29, 2018
NAGA6Aug 29, 2018
NAGLU11Aug 29, 2018
NAGS8Aug 29, 2018
NBN727Aug 29, 2018
NCF228Aug 29, 2018
NCF425Aug 29, 2018
NDE129Aug 29, 2018
NDRG162Aug 29, 2018
NEB771Aug 29, 2018
NEBL124Aug 29, 2018
NECAP111Aug 29, 2018
NEDD4L21Mar 14, 2017
NEFL71Aug 29, 2018
NEK116Aug 29, 2018
NEK819Aug 29, 2018
NEXMIF68Aug 29, 2018
NEXN66Aug 29, 2018
NF12149Aug 29, 2018
NF2199Aug 29, 2018
NFAT531Aug 29, 2018
NFIX8Aug 29, 2018
NFKB236Aug 29, 2018
NFKBIA15Aug 29, 2018
NFU13Apr 2, 2018
NGF33Aug 29, 2018
NGLY167Aug 29, 2018
NHEJ110Aug 29, 2018
NHLRC134Aug 29, 2018
NHP217Aug 29, 2018
NHS25Aug 29, 2018
NIPA124Aug 29, 2018
NIPBL50Aug 29, 2018
NKX2-557Aug 29, 2018
NKX2-615Aug 29, 2018
NLRC435Aug 29, 2018
NLRP1285Aug 29, 2018
NLRP350Aug 29, 2018
NME844Aug 29, 2018
NMNAT14Aug 29, 2018
NOD284Aug 29, 2018
NODAL14Aug 29, 2018
NOP104Apr 2, 2018
NOTCH1510Aug 29, 2018
NOTCH241Aug 29, 2018
NPC152Aug 29, 2018
NPC21Apr 2, 2018
NPHP139Aug 29, 2018
NPHP370Aug 29, 2018
NPHP465Aug 29, 2018
NPPA20Aug 29, 2018
NPR29Aug 29, 2018
NPRL369Aug 29, 2018
NR0B15Aug 29, 2018
NR2F24Apr 2, 2018
NR5A17Aug 29, 2018
NRAS13Aug 29, 2018
NRXN1152Aug 29, 2018
NSD1144Aug 29, 2018
NT5C215Aug 29, 2018
NTRK1115Aug 29, 2018
NUS14Aug 29, 2018
OAT13Aug 29, 2018
OCRL13Aug 29, 2018
OFD162Aug 29, 2018
OGDH1Oct 5, 2017
OPA32Aug 29, 2018
OPLAH5Aug 29, 2018
OPTN11Aug 29, 2018
ORAI115Aug 29, 2018
OTC29Aug 29, 2018
OTX25Aug 29, 2018
OXCT12Aug 29, 2018
P3H174Aug 29, 2018
PACS17Oct 5, 2017
PAH114Aug 29, 2018
PALB21317Aug 29, 2018
PALLD151Aug 29, 2018
PANK224Aug 29, 2018
PAPSS26Aug 29, 2018
PARK77Aug 29, 2018
PARN21Aug 29, 2018
PAX25Aug 29, 2018
PAX633Aug 29, 2018
PAX97Aug 29, 2018
PC9Aug 29, 2018
PCBD11Apr 2, 2018
PCCA22Aug 29, 2018
PCCB22Aug 29, 2018
PCDH19107Aug 29, 2018
PCSK969Aug 29, 2018
PDCD1010Aug 29, 2018
PDE6D1Apr 2, 2018
PDGFRA621Aug 29, 2018
PDGFRB23Aug 29, 2018
PDHA16Aug 29, 2018
PDHB3Aug 29, 2018
PDK319Aug 29, 2018
PDLIM351Aug 29, 2018
PEX114Aug 29, 2018
PEX103Apr 2, 2018
PEX123Aug 29, 2018
PEX137Aug 29, 2018
PEX144Aug 29, 2018
PEX161Oct 5, 2017
PEX193Aug 29, 2018
PEX22Aug 29, 2018
PEX262Aug 29, 2018
PEX53Aug 29, 2018
PEX610Aug 29, 2018
PEX74Aug 29, 2018
PFKM7Aug 29, 2018
PGAM25Aug 29, 2018
PGAP115Aug 29, 2018
PGM112Aug 29, 2018
PGM318Aug 29, 2018
PHF64Apr 2, 2018
PHGDH6Aug 29, 2018
PHKA15Aug 29, 2018
PHKA224Aug 29, 2018
PHKB17Aug 29, 2018
PHKG214Aug 29, 2018
PHOX2B127Aug 29, 2018
PIGA24Aug 29, 2018
PIGG112Aug 29, 2018
PIGM1Oct 5, 2017
PIGN91Aug 29, 2018
PIGO100Aug 29, 2018
PIGQ78Aug 29, 2018
PIGT8Aug 29, 2018
PIGW6Aug 29, 2018
PIK3AP157Aug 29, 2018
PIK3CA114Aug 29, 2018
PIK3CD42Aug 29, 2018
PIK3R123Aug 29, 2018
PIK3R215Apr 2, 2018
PINK18Aug 29, 2018
PITX25Apr 2, 2018
PITX34Aug 29, 2018
PKD240Aug 29, 2018
PKHD1181Aug 29, 2018
PKP2257Aug 29, 2018
PLA2G624Aug 29, 2018
PLCB195Aug 29, 2018
PLCG293Aug 29, 2018
PLEC844Aug 29, 2018
PLEKHG5160Aug 29, 2018
PLEKHM286Aug 29, 2018
PLN17Aug 29, 2018
PLOD1118Aug 29, 2018
PLP116Aug 29, 2018
PMM217Aug 29, 2018
PMP2249Aug 29, 2018
PMS21121Aug 29, 2018
PNKD60Aug 29, 2018
PNKP119Aug 29, 2018
PNP16Aug 29, 2018
PNPLA270Aug 29, 2018
PNPLA664Aug 29, 2018
PNPO22Aug 29, 2018
POFUT15Aug 29, 2018
POLD11161Aug 29, 2018
POLE1981Aug 29, 2018
POLG233Aug 29, 2018
POMGNT156Aug 29, 2018
POMGNT265Aug 29, 2018
POMK35Aug 29, 2018
POMT195Aug 29, 2018
POMT286Aug 29, 2018
POR6Aug 29, 2018
POT1225Aug 29, 2018
PPM1K4Aug 29, 2018
PPT148Aug 29, 2018
PRDM1228Aug 29, 2018
PRDM16183Aug 29, 2018
PRDM850Aug 29, 2018
PREPL42Aug 29, 2018
PRF152Aug 29, 2018
PRICKLE183Aug 29, 2018
PRICKLE236Aug 29, 2018
PRIMA110Aug 29, 2018
PRKAG2110Aug 29, 2018
PRKAR1A103Aug 29, 2018
PRKCD22Aug 29, 2018
PRKDC156Aug 29, 2018
PRKG157Aug 29, 2018
PRKN58Aug 29, 2018
PRKRA10Aug 29, 2018
PRNP11Aug 29, 2018
PROC36Aug 29, 2018
PRODH23Aug 29, 2018
PROS133Aug 29, 2018
PRPH21Oct 5, 2017
PRPS111Aug 29, 2018
PRRT262Aug 29, 2018
PRSS149Aug 29, 2018
PRSS563Apr 2, 2018
PRX224Aug 29, 2018
PSAP4Aug 29, 2018
PSAT15Aug 29, 2018
PSEN117Aug 29, 2018
PSEN211Aug 29, 2018
PSMB820Aug 29, 2018
PSPH1Apr 2, 2018
PSTPIP144Aug 29, 2018
PTCH1877Aug 29, 2018
PTCH2105Aug 29, 2018
PTEN410Aug 29, 2018
PTPN1190Aug 29, 2018
PTPRC65Aug 29, 2018
PTS11Aug 29, 2018
PURA34Aug 29, 2018
PXDN19Aug 29, 2018
PYGL18Aug 29, 2018
PYGM31Aug 29, 2018
QARS110Aug 29, 2018
QDPR8Aug 29, 2018
RAB236Aug 29, 2018
RAB27A18Aug 29, 2018
RAB3GAP223Aug 29, 2018
RAB7A12Aug 29, 2018
RAC24Aug 29, 2018
RAD216Aug 29, 2018
RAD50991Aug 29, 2018
RAD51C414Aug 29, 2018
RAD51D329Aug 29, 2018
RAF180Aug 29, 2018
RAG140Aug 29, 2018
RAG221Aug 29, 2018
RANBP2167Aug 29, 2018
RANGRF11Apr 2, 2018
RAPSN39Aug 29, 2018
RARB5Aug 29, 2018
RASA173Aug 29, 2018
RAX1Oct 5, 2017
RB1368Aug 29, 2018
RBCK122Aug 29, 2018
RBFOX149Aug 29, 2018
RBFOX330Aug 29, 2018
RBM20243Aug 29, 2018
RBM8A3Aug 29, 2018
RD32Oct 5, 2017
RDH122Aug 29, 2018
RECQL4998Aug 29, 2018
REEP142Aug 29, 2018
REEP21Oct 5, 2017
RELN263Aug 29, 2018
RET577Aug 29, 2018
RETREG150Aug 29, 2018
RFT13Aug 29, 2018
RFX520Aug 29, 2018
RFXANK18Aug 29, 2018
RFXAP20Aug 29, 2018
RHOH6Aug 29, 2018
RINT197Mar 14, 2017
RIT121Aug 29, 2018
RMRP49Aug 29, 2018
RNASEH2A15Aug 29, 2018
RNASEH2B17Aug 29, 2018
RNASEH2C7Aug 29, 2018
RNF1255Aug 29, 2018
ROGDI76Aug 29, 2018
RORC11Aug 29, 2018
RPE6511Aug 29, 2018
RPGR42Apr 2, 2018
RPGRIP112Aug 29, 2018
RPGRIP1L42Aug 29, 2018
RPL1112Aug 29, 2018
RPL264Oct 5, 2017
RPL35A6Aug 29, 2018
RPL36A-HNRNPH22Aug 29, 2018
RPL520Aug 29, 2018
RPN25Aug 29, 2018
RPS107Aug 29, 2018
RPS1912Aug 29, 2018
RPS249Aug 29, 2018
RPS263Apr 2, 2018
RPS6KA36Aug 29, 2018
RPS76Aug 29, 2018
RRAS29Aug 29, 2018
RSPH155Aug 29, 2018
RSPH346Aug 29, 2018
RSPH4A54Aug 29, 2018
RSPH918Aug 29, 2018
RTEL1119Aug 29, 2018
RTN220Aug 29, 2018
RUNX1176Aug 29, 2018
RXYLT138Aug 29, 2018
RYR1749Aug 29, 2018
RYR2706Aug 29, 2018
RYR3382Aug 29, 2018
SACS135Aug 29, 2018
SALL123Aug 29, 2018
SALL49Aug 29, 2018
SAMHD118Aug 29, 2018
SATB255Aug 29, 2018
SBF2187Aug 29, 2018
SCARB257Aug 29, 2018
SCN10A220Aug 29, 2018
SCN11A181Aug 29, 2018
SCN1A348Aug 29, 2018
SCN1B73Aug 29, 2018
SCN2A162Aug 29, 2018
SCN2B14Aug 29, 2018
SCN3A41Mar 14, 2017
SCN3B9Aug 29, 2018
SCN4A221Aug 29, 2018
SCN4B13Aug 29, 2018
SCN5A616Aug 29, 2018
SCN8A140Aug 29, 2018
SCN9A373Aug 29, 2018
SDCCAG811Aug 29, 2018
SDHA546Aug 29, 2018
SDHAF266Aug 29, 2018
SDHB271Aug 29, 2018
SDHC138Aug 29, 2018
SDHD148Aug 29, 2018
SEC23A2Aug 29, 2018
SEC23B13Aug 29, 2018
SELENON59Aug 29, 2018
SEMA3E26Aug 29, 2018
SERAC13Aug 29, 2018
SERPINA113Aug 29, 2018
SERPINC127Aug 29, 2018
SERPINI136Aug 29, 2018
SETD2129Aug 29, 2018
SETX143Aug 29, 2018
SGCA45Aug 29, 2018
SGCB39Aug 29, 2018
SGCD54Aug 29, 2018
SGCE66Aug 29, 2018
SGCG32Aug 29, 2018
SGSH15Aug 29, 2018
SH2D1A5Aug 29, 2018
SH3BP240Aug 29, 2018
SH3TC2198Aug 29, 2018
SHH7Aug 29, 2018
SHOC225Aug 29, 2018
SIGMAR123Aug 29, 2018
SIK187Aug 29, 2018
SIL18Apr 2, 2018
SIX13Aug 29, 2018
SIX36Aug 29, 2018
SKI122Aug 29, 2018
SLC12A562Aug 29, 2018
SLC13A559Aug 29, 2018
SLC16A215Aug 29, 2018
SLC17A55Aug 29, 2018
SLC19A351Aug 29, 2018
SLC22A5122Aug 29, 2018
SLC25A1211Mar 14, 2017
SLC25A1311Aug 29, 2018
SLC25A156Aug 29, 2018
SLC25A208Aug 29, 2018
SLC25A2256Aug 29, 2018
SLC25A4642Aug 29, 2018
SLC26A29Aug 29, 2018
SLC29A338Aug 29, 2018
SLC2A1100Aug 29, 2018
SLC2A1079Aug 29, 2018
SLC2A211Aug 29, 2018
SLC33A111Aug 29, 2018
SLC35A13Aug 29, 2018
SLC35A225Aug 29, 2018
SLC35A322Aug 29, 2018
SLC35C117Aug 29, 2018
SLC35D11Aug 29, 2018
SLC37A432Aug 29, 2018
SLC39A1314Aug 29, 2018
SLC3A15Aug 29, 2018
SLC40A116Aug 29, 2018
SLC52A14Aug 29, 2018
SLC52A270Aug 29, 2018
SLC52A360Aug 29, 2018
SLC5A11Apr 2, 2018
SLC5A747Aug 29, 2018
SLC6A170Aug 29, 2018
SLC6A337Aug 29, 2018
SLC6A511Aug 29, 2018
SLC6A872Aug 29, 2018
SLC6A93Aug 29, 2018
SLC7A728Aug 29, 2018
SLC9A629Aug 29, 2018
SLMAP29Aug 29, 2018
SLX4297Aug 29, 2018
SMAD3101Aug 29, 2018
SMAD4294Aug 29, 2018
SMAD676Aug 29, 2018
SMAD95Apr 2, 2018
SMARCA41154Aug 29, 2018
SMARCAL137Aug 29, 2018
SMARCB1117Aug 29, 2018
SMARCE1104Aug 29, 2018
SMC1A43Aug 29, 2018
SMC310Aug 29, 2018
SMCHD141Aug 29, 2018
SMN14Aug 29, 2018
SMN21Apr 2, 2018
SMPD126Aug 29, 2018
SNAP259Aug 29, 2018
SNCA3Aug 29, 2018
SNTA158Aug 29, 2018
SNX2745Aug 29, 2018
SOD118Aug 29, 2018
SOS1107Aug 29, 2018
SOS269Aug 29, 2018
SOX211Aug 29, 2018
SOX96Apr 2, 2018
SP11026Aug 29, 2018
SPAG177Aug 29, 2018
SPART25Aug 29, 2018
SPAST126Aug 29, 2018
SPATA568Aug 29, 2018
SPATA72Apr 2, 2018
SPG11378Aug 29, 2018
SPG2110Aug 29, 2018
SPG776Aug 29, 2018
SPINK129Aug 29, 2018
SPINK559Aug 29, 2018
SPR15Aug 29, 2018
SPRED175Aug 29, 2018
SPTAN1208Aug 29, 2018
SPTLC144Aug 29, 2018
SPTLC253Aug 29, 2018
SQSTM147Aug 29, 2018
SRD5A225Aug 29, 2018
SRD5A33Aug 29, 2018
SRPX230Aug 29, 2018
SRY5Aug 29, 2018
SSUH21Aug 29, 2018
ST3GAL328Aug 29, 2018
ST3GAL533Aug 29, 2018
STAC324Aug 29, 2018
STAT130Aug 29, 2018
STAT228Aug 29, 2018
STAT326Aug 29, 2018
STAT5B24Aug 29, 2018
STIM169Aug 29, 2018
STK11552Aug 29, 2018
STK414Aug 29, 2018
STRA612Aug 29, 2018
STRADA41Aug 29, 2018
STT3B2Apr 2, 2018
STX1114Aug 29, 2018
STX1B22Aug 29, 2018
STXBP179Aug 29, 2018
STXBP249Aug 29, 2018
SUCLA26Aug 29, 2018
SUCLG15Aug 29, 2018
SUFU164Aug 29, 2018
SUMF12Aug 29, 2018
SUN167Aug 29, 2018
SUN249Aug 29, 2018
SUOX6Aug 29, 2018
SURF132Aug 29, 2018
SYN145Aug 29, 2018
SYNE1459Aug 29, 2018
SYNE2376Aug 29, 2018
SYNGAP1127Aug 29, 2018
SYNJ1133Aug 29, 2018
SZT282Mar 14, 2017
TAP149Aug 29, 2018
TAP239Aug 29, 2018
TAPBP18Aug 29, 2018
TARDBP8Aug 29, 2018
TAT1Oct 5, 2017
TAZ29Aug 29, 2018
TBC1D2498Aug 29, 2018
TBK129Aug 29, 2018
TBL1XR117Aug 29, 2018
TBX125Aug 29, 2018
TBX33Aug 29, 2018
TBX535Aug 29, 2018
TCAP45Aug 29, 2018
TCF463Aug 29, 2018
TCN13Aug 29, 2018
TCN234Aug 29, 2018
TCOF143Aug 29, 2018
TCTN120Aug 29, 2018
TCTN224Aug 29, 2018
TCTN38Aug 29, 2018
TDRD78Apr 2, 2018
TECPR253Aug 29, 2018
TERC40Aug 29, 2018
TERT431Aug 29, 2018
TFG39Aug 29, 2018
TFR243Aug 29, 2018
TGFB257Aug 29, 2018
TGFB387Aug 29, 2018
TGFBR180Aug 29, 2018
TGFBR2102Aug 29, 2018
TGIF14Apr 2, 2018
TH56Aug 29, 2018
THAP116Aug 29, 2018
TIA119Aug 29, 2018
TICAM138Aug 29, 2018
TINF228Aug 29, 2018
TLR331Aug 29, 2018
TMC653Aug 29, 2018
TMC839Aug 29, 2018
TMEM127113Aug 29, 2018
TMEM1384Aug 29, 2018
TMEM1651Aug 29, 2018
TMEM17319Aug 29, 2018
TMEM2166Aug 29, 2018
TMEM23120Aug 29, 2018
TMEM2376Aug 29, 2018
TMEM4399Aug 29, 2018
TMEM6730Aug 29, 2018
TMEM7020Aug 29, 2018
TMPO63Aug 29, 2018
TNFRSF13B37Aug 29, 2018
TNFRSF13C16Aug 29, 2018
TNFRSF1A22Aug 29, 2018
TNFRSF413Aug 29, 2018
TNFSF1211Aug 29, 2018
TNNC145Aug 29, 2018
TNNI389Aug 29, 2018
TNNT126Aug 29, 2018
TNNT2125Aug 29, 2018
TNPO334Aug 29, 2018
TOR1A4Aug 29, 2018
TOR1AIP133Aug 29, 2018
TP53639Aug 29, 2018
TP6317Aug 29, 2018
TPK112Aug 29, 2018
TPM171Aug 29, 2018
TPM222Aug 29, 2018
TPM316Aug 29, 2018
TPP197Aug 29, 2018
TPP233Aug 29, 2018
TRAF319Aug 29, 2018
TRAF3IP223Aug 29, 2018
TRAPPC1181Aug 29, 2018
TRDN121Aug 29, 2018
TREX118Aug 29, 2018
TRIM244Aug 29, 2018
TRIM3247Aug 29, 2018
TRIP1120Aug 29, 2018
TRNT111Aug 29, 2018
TRPM499Aug 29, 2018
TRPS118Aug 29, 2018
TRPV4150Aug 29, 2018
TSC1771Aug 29, 2018
TSC22019Aug 29, 2018
TTC21B43Aug 29, 2018
TTC7A55Aug 29, 2018
TTC815Aug 29, 2018
TTN5334Aug 29, 2018
TTN-AS12Apr 2, 2018
TTR48Aug 29, 2018
TUBB4A12Aug 29, 2018
TUSC32Apr 2, 2018
TWIST124Aug 29, 2018
TXNRD276Aug 29, 2018
TYK262Aug 29, 2018
UBA139Aug 29, 2018
UBE3A53Aug 29, 2018
UBQLN24Aug 29, 2018
UMPS3Apr 2, 2018
UNC13D77Aug 29, 2018
UNC93B133Aug 29, 2018
UNG12Aug 29, 2018
UPF3B3Aug 29, 2018
USP819Aug 29, 2018
VAMP12Apr 2, 2018
VANGL12Apr 2, 2018
VAPB21Aug 29, 2018
VAX13Oct 5, 2017
VCL166Aug 29, 2018
VCP44Aug 29, 2018
VHL298Aug 29, 2018
VIM3Aug 29, 2018
VMA219Aug 29, 2018
VPS13B166Aug 29, 2018
VPS356Aug 29, 2018
VPS37A12Aug 29, 2018
VPS4514Aug 29, 2018
VRK134Aug 29, 2018
VSX211Aug 29, 2018
WAS27Aug 29, 2018
WASHC548Aug 29, 2018
WDPCP18Aug 29, 2018
WDR1917Aug 29, 2018
WDR3413Aug 29, 2018
WDR3519Aug 29, 2018
WDR4524Aug 29, 2018
WDR6022Aug 29, 2018
WIPF115Aug 29, 2018
WNK1176Aug 29, 2018
WNT10A26Aug 29, 2018
WRN615Aug 29, 2018
WT1203Aug 29, 2018
WWOX156Aug 29, 2018
XDH12Aug 29, 2018
XIAP16Aug 29, 2018
XPNPEP310Aug 29, 2018
XRCC228Mar 14, 2017
XYLT18Aug 29, 2018
YARS48Aug 29, 2018
ZAP7028Aug 29, 2018
ZBTB2429Aug 29, 2018
ZDHHC920Aug 29, 2018
ZEB2119Aug 29, 2018
ZFPM234Aug 29, 2018
ZFR4Aug 29, 2018
ZFYVE26121Aug 29, 2018
ZFYVE2718Aug 29, 2018
ZIC25Aug 29, 2018
ZIC318Aug 29, 2018
ZMYND1031Aug 29, 2018
ZNF42344Aug 29, 2018

Condition

NameSubmissionsLast Updated
2,4-Dienoyl-CoA reductase deficiency6Aug 29, 2018
2-aminoadipic 2-oxoadipic aciduria8Aug 29, 2018
3 Methylcrotonyl-CoA carboxylase 1 deficiency49Aug 29, 2018
3-Methylglutaconic aciduria type 19Aug 29, 2018
3-Methylglutaconic aciduria type 229Aug 29, 2018
3-Methylglutaconic aciduria type 32Aug 29, 2018
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency25Aug 29, 2018
3-methylcrotonyl CoA carboxylase 2 deficiency39Aug 29, 2018
3-methylglutaconic aciduria type V4Aug 29, 2018
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia37Aug 29, 2018
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome3Aug 29, 2018
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency16Aug 29, 2018
4-Hydroxyphenylpyruvate dioxygenase deficiency16Aug 29, 2018
46,XY sex reversal 934Aug 29, 2018
46,XY sex reversal, type 15Aug 29, 2018
46,XY sex reversal, type 25Aug 29, 2018
46,XY sex reversal, type 37Aug 29, 2018
46,XY sex reversal, type 615Aug 29, 2018
46,XY sex reversal, type 72Apr 2, 2018
5-Oxoprolinase deficiency5Aug 29, 2018
6-pyruvoyl-tetrahydropterin synthase deficiency11Aug 29, 2018
ALG12-congenital disorder of glycosylation9Aug 29, 2018
ALG9 congenital disorder of glycosylation15Aug 29, 2018
ANKRD1-related dilated cardiomyopathy45Aug 29, 2018
ATR-X syndrome108Aug 29, 2018
Accelerated tumor formation, susceptibility to4Apr 2, 2018
Achondrogenesis, type IA20Aug 29, 2018
Achondrogenesis, type IB9Aug 29, 2018
Acne inversa, familial, 317Aug 29, 2018
Acrocallosal syndrome, Schinzel type39Aug 29, 2018
Acromesomelic dysplasia Maroteaux type9Aug 29, 2018
Acromesomelic dysplasia, Demirhan type5Aug 29, 2018
Acute myeloid leukemia141Aug 29, 2018
Adams-Oliver syndrome 42Aug 29, 2018
Adams-Oliver syndrome 5510Aug 29, 2018
Adenylosuccinate lyase deficiency58Aug 29, 2018
Adrenoleukodystrophy81Aug 29, 2018
Agammaglobulinemia 2, autosomal recessive31Aug 29, 2018
Agammaglobulinemia 3, autosomal recessive10Aug 29, 2018
Agammaglobulinemia 4, autosomal recessive20Aug 29, 2018
Agammaglobulinemia 6, autosomal recessive7Aug 29, 2018
Agammaglobulinemia 7, autosomal recessive23Aug 29, 2018
Aicardi Goutieres syndrome 118Aug 29, 2018
Aicardi Goutieres syndrome 217Aug 29, 2018
Aicardi Goutieres syndrome 37Aug 29, 2018
Aicardi Goutieres syndrome 415Aug 29, 2018
Aicardi Goutieres syndrome 518Aug 29, 2018
Aicardi-Goutieres syndrome 633Aug 29, 2018
Aicardi-Goutieres syndrome 754Aug 29, 2018
Alacrima, achalasia, and mental retardation syndrome2Aug 29, 2018
Alagille syndrome 177Aug 29, 2018
Alkaptonuria2Aug 29, 2018
Alpha-1-antitrypsin deficiency13Aug 29, 2018
Alpha-ketoglutarate dehydrogenase deficiency1Oct 5, 2017
Alpha-methylacyl-CoA racemase deficiency3Aug 29, 2018
Alstrom syndrome319Aug 29, 2018
Alzheimer disease, type 317Aug 29, 2018
Alzheimer disease, type 411Aug 29, 2018
Alzheimer's disease7Aug 29, 2018
Amyloidogenic transthyretin amyloidosis48Aug 29, 2018
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia39Aug 29, 2018
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia4Aug 29, 2018
Amyotrophic lateral sclerosis 16, juvenile23Aug 29, 2018
Amyotrophic lateral sclerosis 174Aug 29, 2018
Amyotrophic lateral sclerosis 2130Aug 29, 2018
Amyotrophic lateral sclerosis and/or frontotemporal dementia 147Aug 29, 2018
Amyotrophic lateral sclerosis type 1149Aug 29, 2018
Amyotrophic lateral sclerosis type 108Aug 29, 2018
Amyotrophic lateral sclerosis type 1211Aug 29, 2018
Amyotrophic lateral sclerosis type 4143Aug 29, 2018
Amyotrophic lateral sclerosis type 618Aug 29, 2018
Amyotrophic lateral sclerosis type 821Aug 29, 2018
Anauxetic dysplasia49Aug 29, 2018
Andersen Tawil syndrome52Aug 29, 2018
Androgen resistance syndrome54Aug 29, 2018
Anemia, nonspherocytic hemolytic, due to G6PD deficiency16Aug 29, 2018
Angelman syndrome71Aug 29, 2018
Angelman syndrome-like77Aug 29, 2018
Aniridia 133Aug 29, 2018
Anophthalmia-microphthalmia syndrome5Aug 29, 2018
Anterior segment dysgenesis 719Aug 29, 2018
Anterior segment mesenchymal dysgenesis4Aug 29, 2018
Aortic aneurysm, familial thoracic 4341Aug 29, 2018
Aortic aneurysm, familial thoracic 658Aug 29, 2018
Aortic aneurysm, familial thoracic 7290Aug 29, 2018
Aortic aneurysm, familial thoracic 857Aug 29, 2018
Aortic valve disease 246Aug 29, 2018
Arginase deficiency13Aug 29, 2018
Arginine:glycine amidinotransferase deficiency27Aug 29, 2018
Argininosuccinate lyase deficiency30Aug 29, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 10182Aug 29, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 11160Aug 29, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 12141Aug 29, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 599Aug 29, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 8497Aug 29, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 9257Aug 29, 2018
Arrhythmogenic right ventricular dysplasia, familial, 13105Aug 29, 2018
Arterial tortuosity syndrome79Aug 29, 2018
Arthrogryposis, mental retardation, and seizures22Aug 29, 2018
Aspartylglucosaminuria7Aug 29, 2018
Asphyxiating thoracic dystrophy 517Aug 29, 2018
Ataxia, spastic, 2, autosomal recessive38Aug 29, 2018
Ataxia-telangiectasia syndrome3251Aug 29, 2018
Ataxia-telangiectasia-like disorder 1182Aug 29, 2018
Atelosteogenesis type 29Aug 29, 2018
Atrial fibrillation, familial, 1111Aug 29, 2018
Atrial fibrillation, familial, 1414Aug 29, 2018
Atrial fibrillation, familial, 1818Aug 29, 2018
Atrial fibrillation, familial, 620Aug 29, 2018
Atrial fibrillation, familial, 762Aug 29, 2018
Atrial septal defect 557Aug 29, 2018
Atrial septal defect 7 with or without atrioventricular conduction defects57Aug 29, 2018
Atrial standstill 111Aug 29, 2018
Atrioventricular septal defect 218Apr 2, 2018
Atrioventricular septal defect 482Aug 29, 2018
Atrioventricular septal defect 548Aug 29, 2018
Autoimmune disease, syndromic multisystem16Aug 29, 2018
Autoimmune interstitial lung, joint, and kidney disease28Aug 29, 2018
Autoimmune lymphoproliferatiVe syndrome, type V22Aug 29, 2018
Autoimmune lymphoproliferative syndrome28Aug 29, 2018
Autoimmune lymphoproliferative syndrome type 231Aug 29, 2018
Autoimmune lymphoproliferative syndrome, type 2A31Aug 29, 2018
Autoimmune lymphoproliferative syndrome, type III22Aug 29, 2018
Autoinflammation with infantile enterocolitis35Aug 29, 2018
Autosomal dominant hypohidrotic ectodermal dysplasia26Aug 29, 2018
Autosomal dominant nocturnal frontal lobe epilepsy268Aug 29, 2018
Autosomal recessive axonal neuropathy with neuromyotonia10Aug 29, 2018
Autosomal recessive centronuclear myopathy62Aug 29, 2018
Autosomal recessive cutis laxa type 1B61Aug 29, 2018
Autosomal recessive dyskeratosis congenita16Aug 29, 2018
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome26Aug 29, 2018
Autosomal recessive polycystic kidney disease181Aug 29, 2018
Axenfeld-Rieger syndrome type 15Apr 2, 2018
Axenfeld-Rieger syndrome type 329Aug 29, 2018
Ayme-gripp syndrome9Aug 29, 2018
B-cell expansion with NFKB and T-cell anergy66Aug 29, 2018
Baller-Gerold syndrome998Aug 29, 2018
Baraitser-Winter Syndrome 210Apr 2, 2018
Baraitser-Winter syndrome 121Aug 29, 2018
Bardet-Biedl syndrome301Aug 29, 2018
Bardet-Biedl syndrome 1611Aug 29, 2018
Bardet-Biedl syndrome 32Aug 29, 2018
Bare lymphocyte syndrome 2115Aug 29, 2018
Bare lymphocyte syndrome type 1106Aug 29, 2018
Basal ganglia calcification, idiopathic, 422Aug 29, 2018
Beckwith-Wiedemann syndrome375Aug 29, 2018
Benign familial neonatal seizures97Aug 29, 2018
Benign familial neonatal-infantile seizures161Aug 29, 2018
Beta-D-mannosidosis11Aug 29, 2018
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Aug 29, 2018
Bethlem myopathy 1860Aug 29, 2018
Bethlem myopathy 2232Aug 29, 2018
Bifunctional peroxisomal enzyme deficiency7Aug 29, 2018
Biotin-thiamine-responsive basal ganglia disease51Aug 29, 2018
Biotinidase deficiency43Aug 29, 2018
Blau syndrome84Aug 29, 2018
Bloom syndrome555Aug 29, 2018
Borjeson-Forssman-Lehmann syndrome4Apr 2, 2018
Branched-chain keto acid dehydrogenase kinase deficiency1Aug 29, 2018
Branchiootic syndrome 33Aug 29, 2018
Breast-ovarian cancer, familial 4329Aug 29, 2018
Brody myopathy73Aug 29, 2018
Brown-Vialetto-Van Laere syndrome 160Aug 29, 2018
Brown-Vialetto-Van Laere syndrome 270Aug 29, 2018
Brugada syndrome990Aug 29, 2018
Brugada syndrome 485Aug 29, 2018
Brugada syndrome 573Aug 29, 2018
Brugada syndrome 610Aug 29, 2018
Brugada syndrome 79Aug 29, 2018
Brugada syndrome 8213Aug 29, 2018
Bulbo-spinal atrophy X-linked45Aug 29, 2018
CHARGE association237Aug 29, 2018
COG1 congenital disorder of glycosylation3Aug 29, 2018
COG7 congenital disorder of glycosylation3Aug 29, 2018
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm25Aug 29, 2018
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq5Aug 29, 2018
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa4Aug 29, 2018
Camptomelic dysplasia6Apr 2, 2018
Candidiasis, familial, 243Aug 29, 2018
Candidiasis, familial, 68Aug 29, 2018
Candidiasis, familial, 823Aug 29, 2018
Candidiasis, familial, 945Aug 29, 2018
Capillary malformation-arteriovenous malformation73Aug 29, 2018
Carbohydrate-deficient glycoprotein syndrome type I17Aug 29, 2018
Carbohydrate-deficient glycoprotein syndrome type II5Aug 29, 2018
Carbonic anhydrase VA deficiency, hyperammonemia due to4Aug 29, 2018
Carcinoma of colon18Apr 2, 2018
Cardiac arrhythmia11Apr 2, 2018
Cardiomyopathy, dilated, 2b19Aug 29, 2018
Cardiomyopathy, familial hypertrophic, 26694Aug 29, 2018
Carney complex, type 1103Aug 29, 2018
Carnitine acylcarnitine translocase deficiency8Aug 29, 2018
Carnitine palmitoyl transferase 1 deficiency25Aug 29, 2018
Carnitine palmitoyltransferase II deficiency82Aug 29, 2018
Carpenter syndrome 16Aug 29, 2018
Carpenter syndrome 260Aug 29, 2018
Caspase-8 deficiency14Aug 29, 2018
Cataract 18Aug 29, 2018
Cataract 114Aug 29, 2018
Cataract 12, multiple types6Apr 2, 2018
Cataract 13 with adult i phenotype6Aug 29, 2018
Cataract 15, multiple types7Aug 29, 2018
Cataract 19, multiple types3Apr 2, 2018
Cataract 21, multiple types9Aug 29, 2018
Cataract 23, multiple types4Aug 29, 2018
Cataract 3, multiple types7Aug 29, 2018
Cataract 303Aug 29, 2018
Cataract 33, multiple types14Aug 29, 2018
Cataract 39, multiple types4Aug 29, 2018
Cataract 49Aug 29, 2018
Cataract 6, multiple types28Aug 29, 2018
Cataract and cardiomyopathy7Aug 29, 2018
Cataract, autosomal dominant7Aug 29, 2018
Cataract, autosomal recessive congenital 229Apr 2, 2018
Cataract, autosomal recessive congenital 48Apr 2, 2018
Cataract, autosomal recessive congenital 56Aug 29, 2018
Cataract, congenital nuclear, autosomal recessive 26Apr 2, 2018
Cataract, congenital nuclear, autosomal recessive 34Aug 29, 2018
Cataract, congenital zonular, with sutural opacities3Aug 29, 2018
Cataract, coppock-like7Apr 2, 2018
Cataract, posterior polar, 31Apr 2, 2018
Catecholaminergic polymorphic ventricular tachycardia878Aug 29, 2018
Catecholaminergic polymorphic ventricular tachycardia type 12Jan 6, 2016
Caused by mutation in the TBC1 domain family, member 2498Aug 29, 2018
Cd8 deficiency, familial9Aug 29, 2018
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency37Aug 29, 2018
Cerebral cavernous malformation41Aug 29, 2018
Cerebral cavernous malformations 211Aug 29, 2018
Cerebral cavernous malformations 310Aug 29, 2018
Cerebral creatine deficiency syndrome62Aug 29, 2018
Cerebral folate deficiency22Aug 29, 2018
Cerebral palsy, spastic quadriplegic, 13Aug 29, 2018
Ceroid lipofuscinosis neuronal 148Aug 29, 2018
Ceroid lipofuscinosis neuronal 760Aug 29, 2018
Ceroid lipofuscinosis, neuronal, 1118Aug 29, 2018
Ceroid lipofuscinosis, neuronal, 132Aug 29, 2018
Charcot-Marie-Tooth Neuropathy X134Aug 29, 2018
Charcot-Marie-Tooth disease type 2C150Aug 29, 2018
Charcot-Marie-Tooth disease type 2E71Aug 29, 2018
Charcot-Marie-Tooth disease type 2F47Aug 29, 2018
Charcot-Marie-Tooth disease type 2P122Aug 29, 2018
Charcot-Marie-Tooth disease, X-linked dominant, 619Aug 29, 2018
Charcot-Marie-Tooth disease, axonal type 2V11Aug 29, 2018
Charcot-Marie-Tooth disease, axonal, type 2O365Aug 29, 2018
Charcot-Marie-Tooth disease, axonal, type 2R44Aug 29, 2018
Charcot-Marie-Tooth disease, axonal, type 2S185Aug 29, 2018
Charcot-Marie-Tooth disease, axonal, type 2b12Aug 29, 2018
Charcot-Marie-Tooth disease, axonal, type 2u60Aug 29, 2018
Charcot-Marie-Tooth disease, axonal, type 2z92Aug 29, 2018
Charcot-Marie-Tooth disease, dominant intermediate B118Aug 29, 2018
Charcot-Marie-Tooth disease, dominant intermediate C48Aug 29, 2018
Charcot-Marie-Tooth disease, dominant intermediate E143Aug 29, 2018
Charcot-Marie-Tooth disease, dominant intermediate F31Aug 29, 2018
Charcot-Marie-Tooth disease, recessive intermediate c160Aug 29, 2018
Charcot-Marie-Tooth disease, type 1C31Aug 29, 2018
Charcot-Marie-Tooth disease, type 2860Aug 29, 2018
Charcot-Marie-Tooth disease, type 2L29Aug 29, 2018
Charcot-Marie-Tooth disease, type 4A64Aug 29, 2018
Charcot-Marie-Tooth disease, type I188Aug 29, 2018
Charcot-Marie-Tooth disease, type IV907Aug 29, 2018
Chilblain lupus erythematosus18Aug 29, 2018
Childhood absence epilepsy10Oct 5, 2017
Chitotriosidase deficiency6Aug 29, 2018
Cholestanol storage disease9Aug 29, 2018
Chondrodysplasia punctata 1, X-linked recessive3Oct 5, 2017
Chondroectodermal dysplasia83Aug 29, 2018
Chops syndrome2Aug 29, 2018
Christianson syndrome29Aug 29, 2018
Chromosome 2q32-q33 deletion syndrome55Aug 29, 2018
Chromosome 9q deletion syndrome163Aug 29, 2018
Chronic granulomatous disease, X-linked20Aug 29, 2018
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 228Aug 29, 2018
Chédiak-Higashi syndrome145Aug 29, 2018
Ciliary dyskinesia2635Aug 29, 2018
Ciliary dyskinesia, primary, 1614Aug 29, 2018
Ciliary dyskinesia, primary, 1933Aug 29, 2018
Ciliary dyskinesia, primary, 2734Aug 29, 2018
Ciliary dyskinesia, primary, 2877Aug 29, 2018
Ciliary dyskinesia, primary, 3043Aug 29, 2018
Ciliary dyskinesia, primary, 3246Aug 29, 2018
Ciliary dyskinesia, primary, 3338Aug 29, 2018
Ciliary dyskinesia, primary, 37281Aug 29, 2018
Ciliary dyskinesia, primary, 644Aug 29, 2018
Citrin deficiency11Aug 29, 2018
Citrullinemia type I48Aug 29, 2018
Cleft palate, cardiac defects, and mental retardation5Aug 29, 2018
Cockayne syndrome61Aug 29, 2018
Coenzyme Q10 deficiency, primary, 738Aug 29, 2018
Coffin-Lowry syndrome6Aug 29, 2018
Cohen syndrome166Aug 29, 2018
Cohen-Gibson syndrome3Aug 29, 2018
Colorectal cancer10Aug 29, 2018
Colorectal cancer 11Jan 6, 2016
Colorectal cancer 101161Aug 29, 2018
Colorectal cancer, susceptibility to, 121981Aug 29, 2018
Combined cellular and humoral immune defects with granulomas56Aug 29, 2018
Combined deficiency of sialidase AND beta galactosidase6Aug 29, 2018
Combined malonic and methylmalonic aciduria9Aug 29, 2018
Combined oxidative phosphorylation deficiency25Aug 29, 2018
Combined oxidative phosphorylation deficiency 1034Aug 29, 2018
Combined oxidative phosphorylation deficiency 1443Aug 29, 2018
Combined oxidative phosphorylation deficiency 1762Aug 29, 2018
Combined oxidative phosphorylation deficiency 2761Aug 29, 2018
Combined oxidative phosphorylation deficiency 73Aug 29, 2018
Common variable immunodeficiency11Aug 29, 2018
Common variable immunodeficiency 19Aug 29, 2018
Common variable immunodeficiency 1036Aug 29, 2018
Common variable immunodeficiency 237Aug 29, 2018
Common variable immunodeficiency 416Aug 29, 2018
Common variable immunodeficiency 750Aug 29, 2018
Common variable immunodeficiency 8, with autoimmunity137Aug 29, 2018
Cone-rod dystrophy 1312Aug 29, 2018
Cone-rod dystrophy 21Oct 5, 2017
Cone-rod dystrophy 613Aug 29, 2018
Congenital adrenal hypoplasia, X-linked5Aug 29, 2018
Congenital amegakaryocytic thrombocytopenia23Aug 29, 2018
Congenital central hypoventilation127Aug 29, 2018
Congenital contractural arachnodactyly373Aug 29, 2018
Congenital disorder of deglycosylation67Aug 29, 2018
Congenital disorder of glycosylation5Aug 29, 2018
Congenital disorder of glycosylation type 1B9Aug 29, 2018
Congenital disorder of glycosylation type 1C8Aug 29, 2018
Congenital disorder of glycosylation type 1D2Aug 29, 2018
Congenital disorder of glycosylation type 1E30Aug 29, 2018
Congenital disorder of glycosylation type 1F5Aug 29, 2018
Congenital disorder of glycosylation type 1H5Aug 29, 2018
Congenital disorder of glycosylation type 1I32Aug 29, 2018
Congenital disorder of glycosylation type 1J18Aug 29, 2018
Congenital disorder of glycosylation type 1K13Aug 29, 2018
Congenital disorder of glycosylation type 1M57Aug 29, 2018
Congenital disorder of glycosylation type 1N3Aug 29, 2018
Congenital disorder of glycosylation type 1O6Aug 29, 2018
Congenital disorder of glycosylation type 1P10Aug 29, 2018
Congenital disorder of glycosylation type 1Q3Aug 29, 2018
Congenital disorder of glycosylation type 1t12Aug 29, 2018
Congenital disorder of glycosylation type 1u8Aug 29, 2018
Congenital disorder of glycosylation type 1x2Apr 2, 2018
Congenital disorder of glycosylation type 2B41Aug 29, 2018
Congenital disorder of glycosylation type 2C17Aug 29, 2018
Congenital disorder of glycosylation type 2F3Aug 29, 2018
Congenital disorder of glycosylation type 2H3Oct 5, 2017
Congenital disorder of glycosylation type 2J10Aug 29, 2018
Congenital disorder of glycosylation type 2L9Aug 29, 2018
Congenital disorder of glycosylation type 2i13Aug 29, 2018
Congenital disorder of glycosylation type 2k1Aug 29, 2018
Congenital disorder of glycosylation type Ir5Aug 29, 2018
Congenital dyserythropoietic anemia, type II13Aug 29, 2018
Congenital glaucoma7Aug 29, 2018
Congenital glucose-galactose malabsorption1Apr 2, 2018
Congenital heart defects, multiple types, 44Apr 2, 2018
Congenital hyperammonemia, type I47Aug 29, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A286Aug 29, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A752Aug 29, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B194Aug 29, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B286Aug 29, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B356Aug 29, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B669Aug 29, 2018
Congenital muscular hypertrophy-cerebral syndrome43Aug 29, 2018
Congenital myasthenic syndrome 1233Aug 29, 2018
Congenital myasthenic syndrome 1318Aug 29, 2018
Congenital myopathy with fiber type disproportion16Aug 29, 2018
Congenital myotonia, autosomal dominant form127Aug 29, 2018
Congenital myotonia, autosomal recessive form134Aug 29, 2018
Congenital primary aphakia1Oct 5, 2017
Congenital sensory neuropathy with selective loss of small myelinated fibers33Aug 29, 2018
Conotruncal heart malformations15Aug 29, 2018
Cornelia de Lange syndrome 150Aug 29, 2018
Cornelia de Lange syndrome 310Aug 29, 2018
Cornelia de Lange syndrome 46Aug 29, 2018
Cornelia de Lange syndrome 55Aug 29, 2018
Costello syndrome83Aug 29, 2018
Cowden syndrome117Aug 29, 2018
Cowden syndrome 3136Aug 29, 2018
Cowden syndrome 6101Aug 29, 2018
Cranioectodermal dysplasia 114Aug 29, 2018
Cranioectodermal dysplasia 219Aug 29, 2018
Craniolenticulosutural dysplasia2Aug 29, 2018
Craniosynostosis58Aug 29, 2018
Craniosynostosis 139Aug 29, 2018
Creatine deficiency, X-linked72Aug 29, 2018
Cryopyrin associated periodic syndrome50Aug 29, 2018
Culler-Jones syndrome18Aug 29, 2018
Curry-Hall syndrome78Aug 29, 2018
Cutaneous malignant melanoma 583Aug 29, 2018
Cutaneous malignant melanoma 81Aug 29, 2018
Cutis laxa, X-linked87Aug 29, 2018
Cutis laxa, autosomal dominant 328Aug 29, 2018
Cutis laxa-corneal clouding-oligophrenia syndrome29Aug 29, 2018
Cyclical neutropenia30Aug 29, 2018
Cystic fibrosis223Aug 29, 2018
Cystinosis, ocular nonnephropathic16Aug 29, 2018
Cystinuria5Aug 29, 2018
D-2-hydroxyglutaric aciduria 16Aug 29, 2018
D-2-hydroxyglutaric aciduria 23Aug 29, 2018
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1069Aug 29, 2018
Dandy-Walker like malformation with atrioventricular septal defect32Aug 29, 2018
Danon disease62Aug 29, 2018
Deafness, autosomal dominant 170Aug 29, 2018
Deafness, autosomal dominant 2010Apr 2, 2018
Deafness, autosomal dominant 233Aug 29, 2018
Deafness, autosomal dominant 3b6Apr 2, 2018
Deafness, autosomal dominant 6598Aug 29, 2018
Deafness, autosomal recessive 1A6Apr 2, 2018
Deafness, autosomal recessive 1b6Apr 2, 2018
Deafness, autosomal recessive 6610Aug 29, 2018
Deficiency of 2-methylbutyryl-CoA dehydrogenase15Aug 29, 2018
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2Apr 2, 2018
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase44Aug 29, 2018
Deficiency of acetyl-CoA acetyltransferase8Aug 29, 2018
Deficiency of alpha-mannosidase15Aug 29, 2018
Deficiency of aromatic-L-amino-acid decarboxylase5Aug 29, 2018
Deficiency of butyryl-CoA dehydrogenase35Aug 29, 2018
Deficiency of ferroxidase26Aug 29, 2018
Deficiency of galactokinase8Aug 29, 2018
Deficiency of hyaluronoglucosaminidase1Apr 2, 2018
Deficiency of hydroxymethylglutaryl-CoA lyase8Aug 29, 2018
Deficiency of isobutyryl-CoA dehydrogenase13Aug 29, 2018
Deficiency of malonyl-CoA decarboxylase25Aug 29, 2018
Deficiency of phosphoserine phosphatase1Apr 2, 2018
Deficiency of pyrroline-5-carboxylate reductase15Aug 29, 2018
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency164Aug 29, 2018
Desbuquois dysplasia 18Aug 29, 2018
DiGeorge sequence25Aug 29, 2018
Diabetes mellitus type 25Apr 2, 2018
Diamond-Blackfan anemia79Aug 29, 2018
Diamond-Blackfan anemia 103Apr 2, 2018
Diamond-Blackfan anemia 56Aug 29, 2018
Diamond-Blackfan anemia 86Aug 29, 2018
Diarrhea 5, with tufting enteropathy, congenital2Oct 25, 2018
Diastrophic dysplasia9Aug 29, 2018
Dihydropteridine reductase deficiency8Aug 29, 2018
Dilated Cardiomyopathy, Dominant759Aug 29, 2018
Dilated Cardiomyopathy, Recessive86Aug 29, 2018
Dilated cardiomyopathy 1AA206Aug 29, 2018
Dilated cardiomyopathy 1CC66Aug 29, 2018
Dilated cardiomyopathy 1DD243Aug 29, 2018
Dilated cardiomyopathy 1G5328Aug 29, 2018
Dilated cardiomyopathy 1HH147Aug 29, 2018
Dilated cardiomyopathy 1II28Aug 29, 2018
Dilated cardiomyopathy 1J69Aug 29, 2018
Dilated cardiomyopathy 1JJ155Aug 29, 2018
Dilated cardiomyopathy 1KK186Aug 29, 2018
Dilated cardiomyopathy 1M59Aug 29, 2018
Dilated cardiomyopathy 1N45Aug 29, 2018
Dilated cardiomyopathy 1O121Aug 29, 2018
Dilated cardiomyopathy 1P17Aug 29, 2018
Dilated cardiomyopathy 1R57Aug 29, 2018
Dilated cardiomyopathy 1W166Aug 29, 2018
Dilated cardiomyopathy 1Z44Aug 29, 2018
Dilated cardiomyopathy with woolly hair and keratoderma479Aug 29, 2018
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency6Aug 29, 2018
Disseminated atypical mycobacterial infection20Aug 29, 2018
Distal arthrogryposis type 1A22Aug 29, 2018
Distal hereditary motor neuronopathy 2D68Aug 29, 2018
Distal hereditary motor neuronopathy type 2C9Aug 29, 2018
Distal hereditary motor neuronopathy type 7B131Aug 29, 2018
Distal spinal muscular atrophy, X-linked 386Aug 29, 2018
Distal spinal muscular atrophy, autosomal recessive 223Aug 29, 2018
Distal spinal muscular atrophy, autosomal recessive 4160Aug 29, 2018
Dopamine beta hydroxylase deficiency9Aug 29, 2018
Dowling-Degos disease 25Aug 29, 2018
Drash syndrome203Aug 29, 2018
Duane-radial ray syndrome9Aug 29, 2018
Duchenne muscular dystrophy844Aug 29, 2018
Dysferlinopathy283Aug 29, 2018
Dyskeratosis congenita173Aug 29, 2018
Dyskeratosis congenita autosomal dominant40Aug 29, 2018
Dyskeratosis congenita autosomal recessive 14Apr 2, 2018
Dyskeratosis congenita, autosomal dominant 626Aug 29, 2018
Dyskeratosis congenita, autosomal dominant, 2431Aug 29, 2018
Dyskeratosis congenita, autosomal recessive 621Aug 29, 2018
Dyskeratosis congenita, autosomal recessive, 5119Aug 29, 2018
Dystonia148Aug 29, 2018
Dystonia 1062Aug 29, 2018
Dystonia 1295Aug 29, 2018
Dystonia 1610Aug 29, 2018
Dystonia 26, myoclonic5Aug 29, 2018
Dystonia 5, Dopa-responsive type27Aug 29, 2018
Dystonia 6, torsion16Aug 29, 2018
EGFR-related lung cancer1Aug 29, 2018
EPIDERMODYSPLASIA VERRUCIFORMIS92Aug 29, 2018
Early infantile epileptic encephalopathy1448Aug 29, 2018
Early infantile epileptic encephalopathy 11161Aug 29, 2018
Early infantile epileptic encephalopathy 12214Aug 29, 2018
Early infantile epileptic encephalopathy 14265Aug 29, 2018
Early infantile epileptic encephalopathy 277Aug 29, 2018
Early infantile epileptic encephalopathy 2111Aug 29, 2018
Early infantile epileptic encephalopathy 3462Aug 29, 2018
Early infantile epileptic encephalopathy 828Aug 29, 2018
Early infantile epileptic encephalopathy 9107Aug 29, 2018
Early myoclonic encephalopathy165Aug 29, 2018
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant6Aug 29, 2018
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive6Aug 29, 2018
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant15Aug 29, 2018
Ehlers-Danlos syndrome progeroid type1Apr 2, 2018
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss18Aug 29, 2018
Ehlers-Danlos syndrome, classic type779Aug 29, 2018
Ehlers-Danlos syndrome, hydroxylysine-deficient118Aug 29, 2018
Ehlers-Danlos syndrome, musculocontractural type11Aug 29, 2018
Ehlers-Danlos syndrome, musculocontractural type 24Aug 29, 2018
Ehlers-Danlos syndrome, progeroid type, 26Aug 29, 2018
Ehlers-Danlos syndrome, type 4235Aug 29, 2018
Ehlers-Danlos syndrome, type vii, autosomal recessive99Aug 29, 2018
Eichsfeld type congenital muscular dystrophy59Aug 29, 2018
Emery-Dreifuss muscular dystrophy117Aug 29, 2018
Emery-Dreifuss muscular dystrophy 1, X-linked50Aug 29, 2018
Emery-Dreifuss muscular dystrophy 4, autosomal dominant457Aug 29, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant376Aug 29, 2018
Encephalopathy, acute, infection-induced, 3, suceptibility to167Aug 29, 2018
Encephalopathy, familial, with neuroserpin inclusion bodies36Aug 29, 2018
Endplate acetylcholinesterase deficiency44Aug 29, 2018
Enlarged parietal foramina2Aug 29, 2018
Epidermolysa bullosa simplex and limb girdle muscular dystrophy844Aug 29, 2018
Epidermolysis bullosa simplex with nail dystrophy844Aug 29, 2018
Epidermolysis bullosa simplex with pyloric atresia844Aug 29, 2018
Epidermolysis bullosa simplex, Ogna type844Aug 29, 2018
Epidermolysis bullosa simplex, autosomal recessive 2220Aug 29, 2018
Epilepsy78Aug 29, 2018
Epilepsy juvenile absence77Aug 29, 2018
Epilepsy, X-linked, with variable learning disabilities and behavior disorders45Aug 29, 2018
Epilepsy, childhood absence 154Aug 29, 2018
Epilepsy, childhood absence 244Aug 29, 2018
Epilepsy, childhood absence 434Aug 29, 2018
Epilepsy, childhood absence 554Aug 29, 2018
Epilepsy, familial adult myoclonic, 568Aug 29, 2018
Epilepsy, familial focal, with variable foci 1232Aug 29, 2018
Epilepsy, familial focal, with variable foci 369Aug 29, 2018
Epilepsy, familial temporal lobe, 7263Aug 29, 2018
Epilepsy, familial temporal lobe, 816Aug 29, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation146Aug 29, 2018
Epilepsy, hearing loss, and mental retardation syndrome68Aug 29, 2018
Epilepsy, juvenile myoclonic 535Aug 29, 2018
Epilepsy, lateral temporal lobe, autosomal dominant44Aug 29, 2018
Epilepsy, nocturnal frontal lobe, 5264Aug 29, 2018
Epilepsy, progressive myoclonic 342Aug 29, 2018
Epilepsy, progressive myoclonic 536Aug 29, 2018
Epilepsy, progressive myoclonic 756Aug 29, 2018
Epilepsy, progressive myoclonic 832Aug 29, 2018
Epilepsy, progressive myoclonic, 1050Aug 29, 2018
Epilepsy, progressive myoclonic, 959Aug 29, 2018
Epileptic encephalopathy701Aug 29, 2018
Epileptic encephalopathy, childhood-onset138Aug 29, 2018
Epileptic encephalopathy, early infantile, 1311Aug 29, 2018
Epileptic encephalopathy, early infantile, 23134Aug 29, 2018
Epileptic encephalopathy, early infantile, 2559Aug 29, 2018
Epileptic encephalopathy, early infantile, 2662Aug 29, 2018
Epileptic encephalopathy, early infantile, 27115Aug 29, 2018
Epileptic encephalopathy, early infantile, 3087Aug 29, 2018
Epileptic encephalopathy, early infantile, 3155Aug 29, 2018
Epileptic encephalopathy, early infantile, 3234Aug 29, 2018
Epileptic encephalopathy, early infantile, 3344Aug 29, 2018
Epileptic encephalopathy, early infantile, 3669Aug 29, 2018
Epileptic encephalopathy, early infantile, 3745Aug 29, 2018
Epileptic encephalopathy, early infantile, 42227Aug 29, 2018
Epileptic encephalopathy, early infantile, 53133Aug 29, 2018
Epileptic encephalopathy, early infantile, 5424Nov 9, 2017
Epiphyseal chondrodysplasia, miura type9Aug 29, 2018
Episodic ataxia type 117Aug 29, 2018
Episodic ataxia type 2227Aug 29, 2018
Episodic pain syndrome, familial, 3181Aug 29, 2018
Erythrocytosis, familial, 2274Aug 29, 2018
Erythrocytosis, familial, 324Aug 29, 2018
Essential thrombocythemia23Aug 29, 2018
Ethylmalonic encephalopathy6Aug 29, 2018
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency33Aug 29, 2018
FG syndrome101Aug 29, 2018
FGFR2 related craniosynostosis47Aug 29, 2018
Fabry disease67Aug 29, 2018
Facioscapulohumeral muscular dystrophy 241Aug 29, 2018
Factor V deficiency3Aug 29, 2018
Familial Mediterranean fever72Aug 29, 2018
Familial adenomatous polyposis 12498Aug 29, 2018
Familial cancer of breast4039Aug 29, 2018
Familial cold autoinflammatory syndrome 285Aug 29, 2018
Familial cold autoinflammatory syndrome 393Aug 29, 2018
Familial cold autoinflammatory syndrome 435Aug 29, 2018
Familial colorectal cancer5Aug 29, 2018
Familial dysautonomia124Aug 29, 2018
Familial febrile seizures 844Aug 29, 2018
Familial hemiplegic migraine94Aug 29, 2018
Familial hypercholesterolemia286Aug 29, 2018
Familial hypertrophic cardiomyopathy 158Aug 29, 2018
Familial hypertrophic cardiomyopathy 1065Aug 29, 2018
Familial hypertrophic cardiomyopathy 1157Aug 29, 2018
Familial hypertrophic cardiomyopathy 1259Aug 29, 2018
Familial hypertrophic cardiomyopathy 1345Aug 29, 2018
Familial hypertrophic cardiomyopathy 14328Aug 29, 2018
Familial hypertrophic cardiomyopathy 1947Aug 29, 2018
Familial hypertrophic cardiomyopathy 2125Aug 29, 2018
Familial hypertrophic cardiomyopathy 2066Aug 29, 2018
Familial infantile myasthenia78Aug 29, 2018
Familial platelet disorder with associated myeloid malignancy176Aug 29, 2018
Familial restrictive cardiomyopathy 3118Aug 29, 2018
Fanconi anemia1545Aug 29, 2018
Fanconi anemia, complementation group E72Aug 29, 2018
Fanconi anemia, complementation group J1024Aug 29, 2018
Fanconi anemia, complementation group O414Aug 29, 2018
Fanconi anemia, complementation group Q61Aug 29, 2018
Fanconi-Bickel syndrome11Aug 29, 2018
Febrile seizures, familial, 1132Aug 29, 2018
Fibrous dysplasia of jaw40Aug 29, 2018
Focal segmental glomerulosclerosis 5142Aug 29, 2018
Focal segmental glomerulosclerosis 75Aug 29, 2018
Frasier syndrome203Aug 29, 2018
Frontometaphyseal dysplasia333Aug 29, 2018
Frontotemporal Dementia, Chromosome 3-Linked4Aug 29, 2018
Frontotemporal dementia39Aug 29, 2018
Frontotemporal dementia and/or amyotrophic lateral sclerosis 225Aug 29, 2018
Frontotemporal dementia and/or amyotrophic lateral sclerosis 429Aug 29, 2018
Frontotemporal dementia, ubiquitin-positive18Aug 29, 2018
Fructose-biphosphatase deficiency9Aug 29, 2018
Fucosidosis10Aug 29, 2018
Fumarase deficiency291Aug 29, 2018
GATA-1-related thrombocytopenia with dyserythropoiesis15Aug 29, 2018
GLUT1 deficiency syndrome 1, autosomal recessive100Aug 29, 2018
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY16Aug 29, 2018
GM1 gangliosidosis11Aug 29, 2018
GTP cyclohydrolase I deficiency23Aug 29, 2018
Galactosylceramide beta-galactosidase deficiency29Aug 29, 2018
Gamma-aminobutyric acid transaminase deficiency46Aug 29, 2018
Gastrointestinal stroma tumor1560Aug 29, 2018
Generalized epilepsy and paroxysmal dyskinesia69Aug 29, 2018
Generalized epilepsy with febrile seizures plus, type 7373Aug 29, 2018
Generalized epilepsy with febrile seizures plus, type 922Aug 29, 2018
Genitopatellar syndrome6Aug 29, 2018
Giant axonal neuropathy66Aug 29, 2018
Glanzmann thrombasthenia2Aug 29, 2018
Glaucoma 1, open angle, e11Aug 29, 2018
Glaucoma 3, primary congenital, A5Oct 5, 2017
Glucose-6-phosphate transport defect32Aug 29, 2018
Glutamine deficiency, congenital1Apr 2, 2018
Glutaric aciduria, type 141Aug 29, 2018
Glutaric aciduria, type 242Aug 29, 2018
Gluthathione synthetase deficiency1Aug 29, 2018
Glycine encephalopathy with normal serum glycine3Aug 29, 2018
Glycogen storage disease 0, muscle6Aug 29, 2018
Glycogen storage disease IV, classic hepatic18Aug 29, 2018
Glycogen storage disease IXb17Aug 29, 2018
Glycogen storage disease IXc14Aug 29, 2018
Glycogen storage disease IXd5Aug 29, 2018
Glycogen storage disease XV7Aug 29, 2018
Glycogen storage disease of heart, lethal congenital110Aug 29, 2018
Glycogen storage disease type 135Aug 29, 2018
Glycogen storage disease type 1A14Aug 29, 2018
Glycogen storage disease type III242Aug 29, 2018
Glycogen storage disease type IXa124Aug 29, 2018
Glycogen storage disease type X5Aug 29, 2018
Glycogen storage disease, type II301Aug 29, 2018
Glycogen storage disease, type IV18Aug 29, 2018
Glycogen storage disease, type V31Aug 29, 2018
Glycogen storage disease, type VI18Aug 29, 2018
Glycogen storage disease, type VII7Aug 29, 2018
Glycosylphosphatidylinositol deficiency1Oct 5, 2017
Gnathodiaphyseal dysplasia104Aug 29, 2018
Gorlin syndrome1146Aug 29, 2018
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative21Aug 29, 2018
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III25Aug 29, 2018
Greig cephalopolysyndactyly syndrome61Aug 29, 2018
Griscelli syndrome type 218Aug 29, 2018
Growth hormone deficiency with pituitary anomalies2Apr 2, 2018
Growth hormone insensitivity with immunodeficiency24Aug 29, 2018
Gyrate atrophy13Aug 29, 2018
HNSHA due to aldolase A deficiency4Aug 29, 2018
Haim-Munk syndrome11Aug 29, 2018
Hajdu-Cheney syndrome41Aug 29, 2018
Hemochromatosis type 122Mar 14, 2017
Hemochromatosis type 2A16Aug 29, 2018
Hemochromatosis type 2B1Dec 10, 2015
Hemochromatosis type 416Aug 29, 2018
Hemophagocytic lymphohistiocytosis, familial, 252Aug 29, 2018
Hemophagocytic lymphohistiocytosis, familial, 377Aug 29, 2018
Hemophagocytic lymphohistiocytosis, familial, 414Aug 29, 2018
Hemophagocytic lymphohistiocytosis, familial, 549Aug 29, 2018
Hepatic methionine adenosyltransferase deficiency22Aug 29, 2018
Hepatic venoocclusive disease with immunodeficiency26Aug 29, 2018
Hereditary Paraganglioma-Pheochromocytoma Syndromes234Aug 29, 2018
Hereditary breast and ovarian cancer syndrome5812Nov 5, 2018
Hereditary cancer-predisposing syndrome1084Aug 29, 2018
Hereditary cutaneous melanoma410Aug 29, 2018
Hereditary diffuse gastric cancer909Aug 29, 2018
Hereditary factor IX deficiency disease12Aug 29, 2018
Hereditary fructosuria3Aug 29, 2018
Hereditary hemochromatosis49Aug 29, 2018
Hereditary hemorrhagic telangiectasia type 2114Aug 29, 2018
Hereditary insensitivity to pain with anhidrosis115Aug 29, 2018
Hereditary nonpolyposis colon cancer4480Aug 29, 2018
Hereditary orotic aciduria, type 13Apr 2, 2018
Hereditary pancreatitis112Aug 29, 2018
Hereditary sensory and autonomic neuropathy type IC53Aug 29, 2018
Hereditary sensory and autonomic neuropathy type IIA549Aug 29, 2018
Hereditary sensory and autonomic neuropathy type IIB50Aug 29, 2018
Hereditary sensory and autonomic neuropathy type IIC247Aug 29, 2018
Hereditary sensory neuropathy type IE128Aug 29, 2018
Hereditary sensory neuropathy type IF45Aug 29, 2018
Hereditary spastic paraplegia19Aug 29, 2018
Hermansky Pudlak syndrome 238Aug 29, 2018
Hermansky-Pudlak syndrome 96Aug 29, 2018
Herpes simplex encephalitis 164Aug 29, 2018
Herpes simplex encephalitis, susceptibility to, 319Aug 29, 2018
Herpes simplex encephalitis, susceptibility to, 438Aug 29, 2018
Heterotaxia24Aug 29, 2018
Heterotaxy, visceral, 4, autosomal13Aug 29, 2018
Heterotaxy, visceral, 6, autosomal7Apr 2, 2018
Heterotaxy, visceral, X-linked18Aug 29, 2018
Hidrotic ectodermal dysplasia syndrome6Apr 2, 2018
Histiocytosis-lymphadenopathy plus syndrome38Aug 29, 2018
Holocarboxylase synthetase deficiency26Aug 29, 2018
Holoprosencephaly 1111Apr 2, 2018
Holoprosencephaly 26Aug 29, 2018
Holoprosencephaly 37Aug 29, 2018
Holoprosencephaly 44Apr 2, 2018
Holoprosencephaly 55Aug 29, 2018
Holoprosencephaly 918Aug 29, 2018
Holoprosencephaly sequence24Aug 29, 2018
Holt-Oram syndrome57Aug 29, 2018
Homocysteinemia due to MTHFR deficiency13Aug 29, 2018
Homocystinuria due to CBS deficiency139Aug 29, 2018
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type13Aug 29, 2018
Hoyeraal Hreidarsson syndrome16Aug 29, 2018
Huntington disease-like 111Aug 29, 2018
Hyperaldosteronism, familial, type IV417Aug 29, 2018
Hyperammonemia, type III8Aug 29, 2018
Hypercholesterolemia, autosomal dominant, 369Aug 29, 2018
Hypercholesterolemia, autosomal dominant, type B286Aug 29, 2018
Hypercholesterolemia, autosomal recessive24Aug 29, 2018
Hyperekplexia 27Aug 29, 2018
Hyperekplexia 311Aug 29, 2018
Hyperekplexia hereditary60Aug 29, 2018
Hyperferritinemia cataract syndrome2Aug 29, 2018
Hyperimmunoglobulin D with periodic fever29Aug 29, 2018
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive132Aug 29, 2018
Hyperimmunoglobulin E syndrome26Aug 29, 2018
Hyperinsulinism-hyperammonemia syndrome5Aug 29, 2018
Hyperkalemic Periodic Paralysis Type 1221Aug 29, 2018
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency8Aug 29, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome6Aug 29, 2018
Hyperphenylalaninemia, BH4-deficient, D1Apr 2, 2018
Hyperphosphatasia with mental retardation syndrome 2100Aug 29, 2018
Hyperphosphatasia with mental retardation syndrome 56Aug 29, 2018
Hypertrophic cardiomyopathy1755Aug 29, 2018
Hypobetalipoproteinemia, familial, 1292Aug 29, 2018
Hypocalcemia, autosomal dominant 1337Aug 29, 2018
Hypocalciuric hypercalcemia, familial, type 1338Aug 29, 2018
Hypoglycemia with deficiency of glycogen synthetase in the liver16Aug 29, 2018
Hypoglycemia, neonatal, simulating foetopathia diabetica5Apr 2, 2018
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities4Aug 29, 2018
Hypohidrotic X-linked ectodermal dysplasia52Aug 29, 2018
Hypokalemic periodic paralysis 1220Aug 29, 2018
Hypomyelination and Congenital Cataract8Aug 29, 2018
Hypoplastic enamel-onycholysis-hypohidrosis syndrome12Aug 29, 2018
Hypoplastic left heart syndrome4Apr 2, 2018
Hypoplastic left heart syndrome 13Mar 14, 2017
Hypoproteinemia, hypercatabolic1Apr 2, 2018
I cell disease9Aug 29, 2018
IL21R immunodeficiency26Aug 29, 2018
IRAK4 deficiency20Aug 29, 2018
Idiopathic fibrosing alveolitis, chronic form430Aug 29, 2018
Idiopathic generalized epilepsy605Aug 29, 2018
Immune dysfunction with T-cell inactivation due to calcium entry defect 115Aug 29, 2018
Immune dysfunction with T-cell inactivation due to calcium entry defect 268Aug 29, 2018
Immunodeficiency31Aug 29, 2018
Immunodeficiency 1166Aug 29, 2018
Immunodeficiency 1218Aug 29, 2018
Immunodeficiency 1442Aug 29, 2018
Immunodeficiency 1523Aug 29, 2018
Immunodeficiency 1613Aug 29, 2018
Immunodeficiency 1711Aug 29, 2018
Immunodeficiency 1810Aug 29, 2018
Immunodeficiency 198Apr 2, 2018
Immunodeficiency 2213Aug 29, 2018
Immunodeficiency 2318Aug 29, 2018
Immunodeficiency 2414Aug 29, 2018
Immunodeficiency 26 with or without neurologic abnormalities156Aug 29, 2018
Immunodeficiency 2818Aug 29, 2018
Immunodeficiency 2919Aug 29, 2018
Immunodeficiency 3040Aug 29, 2018
Immunodeficiency 31C30Aug 29, 2018
Immunodeficiency 31a30Aug 29, 2018
Immunodeficiency 32a28Aug 29, 2018
Immunodeficiency 32b28Aug 29, 2018
Immunodeficiency 3623Aug 29, 2018
Immunodeficiency 376Aug 29, 2018
Immunodeficiency 38 with basal ganglia calcification9Aug 29, 2018
Immunodeficiency 3923Aug 29, 2018
Immunodeficiency 4078Aug 29, 2018
Immunodeficiency 4211Aug 29, 2018
Immunodeficiency 4428Aug 29, 2018
Immunodeficiency 5156Aug 29, 2018
Immunodeficiency 813Aug 29, 2018
Immunodeficiency due to defect in cd3-zeta15Aug 29, 2018
Immunodeficiency with hyper IgM type 113Aug 29, 2018
Immunodeficiency with hyper IgM type 213Aug 29, 2018
Immunodeficiency with hyper IgM type 512Aug 29, 2018
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia9Aug 29, 2018
Immunodeficiency-centromeric instability-facial anomalies syndrome 229Aug 29, 2018
Inclusion body myopathy 254Aug 29, 2018
Inclusion body myopathy 3117Aug 29, 2018
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia39Aug 29, 2018
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 214Aug 29, 2018
Infantile Parkinsonism-dystonia37Aug 29, 2018
Infantile myofibromatosis 123Aug 29, 2018
Infantile neuroaxonal dystrophy24Aug 29, 2018
Infantile spasms57Aug 29, 2018
Infantile-onset ascending hereditary spastic paralysis60Aug 29, 2018
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations6Aug 29, 2018
Inflammatory bowel disease3Aug 29, 2018
Inflammatory bowel disease 184Aug 29, 2018
Inflammatory bowel disease 25, autosomal recessive13Aug 29, 2018
Inflammatory bowel disease 28, autosomal recessive36Aug 29, 2018
Inflammatory skin and bowel disease, neonatal 125Aug 29, 2018
Inosine triphosphatase deficiency39Aug 29, 2018
Insulin-dependent diabetes mellitus secretory diarrhea syndrome13Aug 29, 2018
Intellectual disability26Aug 29, 2018
Interleukin 2 receptor, alpha, deficiency of14Aug 29, 2018
Interstitial lung and liver disease60Aug 29, 2018
Intrinsic factor deficiency10Aug 29, 2018
Irido-corneo-trabecular dysgenesis33Aug 29, 2018
Iridogoniodysgenesis, dominant type5Apr 2, 2018
Isovaleryl-CoA dehydrogenase deficiency27Aug 29, 2018
Jeune thoracic dystrophy161Aug 29, 2018
Joubert syndrome477Aug 29, 2018
Joubert syndrome 146Aug 29, 2018
Joubert syndrome 156Aug 29, 2018
Joubert syndrome 164Aug 29, 2018
Joubert syndrome 1786Aug 29, 2018
Joubert syndrome 188Aug 29, 2018
Joubert syndrome 2020Aug 29, 2018
Joubert syndrome 2123Aug 29, 2018
Joubert syndrome 221Apr 2, 2018
Joubert syndrome 2338Aug 29, 2018
Joubert syndrome 2515Aug 29, 2018
Joubert syndrome 810Aug 29, 2018
Juvenile myoclonic epilepsy78Aug 29, 2018
Juvenile nephropathic cystinosis16Aug 29, 2018
Juvenile polyposis syndrome662Aug 29, 2018
KBG syndrome13Aug 29, 2018
Kabuki syndrome108Aug 29, 2018
Kabuki syndrome 28Aug 29, 2018
Kallmann syndrome 17Aug 29, 2018
Kallmann syndrome 223Aug 29, 2018
Klippel-Feil syndrome 1, autosomal dominant3Apr 2, 2018
Klippel-Feil syndrome 3, autosomal dominant2Apr 2, 2018
Kohlschutter's syndrome76Aug 29, 2018
Koolen-de Vries syndrome133Aug 29, 2018
Kosaki overgrowth syndrome22Aug 29, 2018
L-2-hydroxyglutaric aciduria8Aug 29, 2018
Lactate dehydrogenase deficiency type A4Apr 2, 2018
Lafora disease34Aug 29, 2018
Lamellar cataract10Aug 29, 2018
Laminin alpha 2-related dystrophy342Aug 29, 2018
Leber congenital amaurosis 114Aug 29, 2018
Leber congenital amaurosis 122Oct 5, 2017
Leber congenital amaurosis 132Aug 29, 2018
Leber congenital amaurosis 173Apr 2, 2018
Leber congenital amaurosis 211Aug 29, 2018
Leber congenital amaurosis 32Apr 2, 2018
Leber congenital amaurosis 47Aug 29, 2018
Leber congenital amaurosis 612Aug 29, 2018
Leber congenital amaurosis 71Oct 5, 2017
Leber congenital amaurosis 813Aug 29, 2018
Leber congenital amaurosis 94Aug 29, 2018
Left ventricular noncompaction 144Aug 29, 2018
Left ventricular noncompaction 6119Aug 29, 2018
Left ventricular noncompaction 8183Aug 29, 2018
Left-right axis malformations21Aug 29, 2018
Legius syndrome75Aug 29, 2018
Leigh syndrome32Aug 29, 2018
Lesch-Nyhan syndrome5Aug 29, 2018
Lethal multiple pterygium syndrome93Aug 29, 2018
Leukocyte adhesion deficiency type 152Aug 29, 2018
Leukocyte adhesion deficiency, type III29Aug 29, 2018
Leukodystrophy, hypomyelinating, 612Aug 29, 2018
Lewy body dementia3Aug 29, 2018
Li-Fraumeni syndrome639Aug 29, 2018
Lig4 syndrome34Aug 29, 2018
Limb-girdle muscular dystrophy, type 1E24Aug 29, 2018
Limb-girdle muscular dystrophy, type 1F34Aug 29, 2018
Limb-girdle muscular dystrophy, type 1G32Aug 29, 2018
Limb-girdle muscular dystrophy, type 2A144Aug 29, 2018
Limb-girdle muscular dystrophy, type 2D45Aug 29, 2018
Limb-girdle muscular dystrophy, type 2E38Aug 29, 2018
Limb-girdle muscular dystrophy, type 2F54Aug 29, 2018
Limb-girdle muscular dystrophy, type 2J5242Aug 29, 2018
Limb-girdle muscular dystrophy, type 2L108Aug 29, 2018
Limb-girdle muscular dystrophy, type 2Q844Aug 29, 2018
Limb-girdle muscular dystrophy, type 2S81Aug 29, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C194Aug 29, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C286Aug 29, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C356Aug 29, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C977Aug 29, 2018
Lipodystrophy, partial, acquired, susceptibility to59Aug 29, 2018
Lissencephaly 2263Aug 29, 2018
Loeys-Dietz syndrome 263Aug 29, 2018
Loeys-Dietz syndrome 365Aug 29, 2018
Loeys-Dietz syndrome 487Aug 29, 2018
Long QT syndrome1884Aug 29, 2018
Long QT syndrome 126Aug 29, 2018
Long QT syndrome 1013Aug 29, 2018
Long QT syndrome 1411Aug 29, 2018
Long QT syndrome 619Aug 29, 2018
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency13Aug 29, 2018
Lowe syndrome13Aug 29, 2018
Luscan-lumish syndrome129Aug 29, 2018
Lymphedema, primary, with myelodysplasia165Aug 29, 2018
Lymphoproliferative syndrome 120Aug 29, 2018
Lymphoproliferative syndrome 1, X-linked5Aug 29, 2018
Lymphoproliferative syndrome 211Aug 29, 2018
Lymphoproliferative syndrome 2, X-linked16Aug 29, 2018
Lynch syndrome1045Jun 19, 2017
Lysinuric protein intolerance28Aug 29, 2018
Lysosomal acid lipase deficiency6Aug 29, 2018
METHYLCOBALAMIN DEFICIENCY, cblG TYPE21Aug 29, 2018
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE7Aug 29, 2018
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE10Aug 29, 2018
MLH3-Related Lynch Syndrome155Aug 29, 2018
MYH-associated polyposis574Aug 29, 2018
Macular corneal dystrophy Type I4Apr 2, 2018
Majeed syndrome55Aug 29, 2018
Malignant hyperthermia susceptibility type 5220Aug 29, 2018
Maple syrup urine disease59Aug 29, 2018
Maple syrup urine disease, mild variant4Aug 29, 2018
Maple syrup urine disease, type 38Aug 29, 2018
Marfan syndrome816Aug 29, 2018
Marinesco-Sjögren syndrome8Apr 2, 2018
Marshall-Smith syndrome8Aug 29, 2018
Martsolf syndrome23Aug 29, 2018
Mast syndrome10Aug 29, 2018
McKusick Kaufman syndrome11Aug 29, 2018
Meckel syndrome, type 1120Aug 29, 2018
Meckel-Gruber syndrome322Aug 29, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency55Aug 29, 2018
Medulloblastoma164Aug 29, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 115Apr 2, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 25Aug 29, 2018
Megaloblastic anemia due to inborn errors of metabolism59Aug 29, 2018
Melanoma, cutaneous malignant, susceptibility to, 10225Aug 29, 2018
Melnick-Fraser syndrome19Aug 29, 2018
Melnick-Needles syndrome333Aug 29, 2018
Membranous cataract2Apr 2, 2018
Meningioma, familial104Aug 29, 2018
Menkes kinky-hair syndrome87Aug 29, 2018
Mental retardation 3, X-linked9Aug 29, 2018
Mental retardation, CASK-related, X-linked37Aug 29, 2018
Mental retardation, X-linked 169Aug 29, 2018
Mental retardation, X-linked 196Aug 29, 2018
Mental retardation, X-linked 9868Aug 29, 2018
Mental retardation, X-linked, syndromic 1318Mar 14, 2017
Mental retardation, X-linked, syndromic, Hedera type15Aug 29, 2018
Mental retardation, X-linked, syndromic, Raymond type20Aug 29, 2018
Mental retardation, autosomal dominant 1136Aug 29, 2018
Mental retardation, autosomal dominant 3134Aug 29, 2018
Mental retardation, autosomal dominant 5127Aug 29, 2018
Mental retardation, autosomal dominant 6115Aug 29, 2018
Mental retardation, autosomal dominant 758Aug 29, 2018
Mental retardation, autosomal dominant 9249Aug 29, 2018
Mental retardation, autosomal recessive 1512Aug 29, 2018
Mental retardation, autosomal recessive 4112Aug 29, 2018
Mental retardation, autosomal recessive 4215Aug 29, 2018
Mental retardation, autosomal recessive 53112Aug 29, 2018
Mental retardation, autosomal recessive 72Apr 2, 2018
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations20Aug 29, 2018
Mental retardation, syndromic 14, X-linked3Aug 29, 2018
Mental retardation, with or without seizures, ARX-related, X-linked57Aug 29, 2018
Metachromatic leukodystrophy27Aug 29, 2018
Methylmalonic acidemia with homocystinuria24Aug 29, 2018
Methylmalonic acidemia with homocystinuria cblD6Apr 2, 2018
Methylmalonic aciduria cblA type8Aug 29, 2018
Methylmalonic aciduria cblB type11Aug 29, 2018
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency32Aug 29, 2018
Methylmalonic aciduria due to transcobalamin receptor defect3Aug 29, 2018
Methylmalonyl-CoA epimerase deficiency3Apr 2, 2018
Mevalonic aciduria29Aug 29, 2018
Michels syndrome8Aug 29, 2018
Microcephaly, epilepsy, and diabetes syndrome8Aug 29, 2018
Microcephaly, normal intelligence and immunodeficiency727Aug 29, 2018
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy110Aug 29, 2018
Microphthalmia syndromic 311Aug 29, 2018
Microphthalmia syndromic 63Apr 2, 2018
Microphthalmia syndromic 912Aug 29, 2018
Microphthalmia, isolated 211Aug 29, 2018
Microphthalmia, isolated 31Oct 5, 2017
Microphthalmia, isolated 43Apr 2, 2018
Microphthalmia, isolated 56Aug 29, 2018
Microphthalmia, isolated 63Apr 2, 2018
Microphthalmia, isolated 83Apr 2, 2018
Microphthalmia, isolated, with coloboma 63Apr 2, 2018
Microphthalmia, syndromic 113Oct 5, 2017
Microphthalmia, syndromic 125Aug 29, 2018
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)6Aug 29, 2018
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)5Aug 29, 2018
Mitochondrial complex II deficiency544Aug 29, 2018
Mitochondrial trifunctional protein deficiency26Aug 29, 2018
Molybdenum cofactor deficiency, complementation group A6Aug 29, 2018
Molybdenum cofactor deficiency, complementation group C42Aug 29, 2018
Monoamine oxidase A deficiency4Aug 29, 2018
Mosaic variegated aneuploidy syndrome101Aug 29, 2018
Mosaic variegated aneuploidy syndrome 120Mar 14, 2017
Mosaic variegated aneuploidy syndrome 243Aug 29, 2018
Mowat-Wilson syndrome119Aug 29, 2018
Mucolipidosis type IV7Aug 29, 2018
Mucopolysaccharidosis type I29Aug 29, 2018
Mucopolysaccharidosis type VI8Aug 29, 2018
Mucopolysaccharidosis type VII10Aug 29, 2018
Mucopolysaccharidosis, MPS-II17Aug 29, 2018
Mucopolysaccharidosis, MPS-III-A15Aug 29, 2018
Mucopolysaccharidosis, MPS-III-B11Aug 29, 2018
Mucopolysaccharidosis, MPS-III-C14Aug 29, 2018
Mucopolysaccharidosis, MPS-III-D2Aug 29, 2018
Mucopolysaccharidosis, MPS-IV-A32Aug 29, 2018
Mucopolysaccharidosis, MPS-IV-B11Aug 29, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 191Aug 29, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 224Aug 29, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 38Aug 29, 2018
Multiple congenital exostosis49Aug 29, 2018
Multiple endocrine neoplasia, type 1475Aug 29, 2018
Multiple endocrine neoplasia, type 2577Aug 29, 2018
Multiple endocrine neoplasia, type 4122Aug 29, 2018
Multiple epiphyseal dysplasia 49Aug 29, 2018
Multiple exostoses type 234Aug 29, 2018
Multiple fibrofolliculomas330Aug 29, 2018
Multiple gastrointestinal atresias55Aug 29, 2018
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects4Aug 29, 2018
Multiple mitochondrial dysfunctions syndrome 13Apr 2, 2018
Multiple mitochondrial dysfunctions syndrome 311Aug 29, 2018
Multiple sulfatase deficiency2Aug 29, 2018
Muscle AMP deaminase deficiency7Aug 29, 2018
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency123Aug 29, 2018
Muscular dystrophy, congenital, megaconial type28Aug 29, 2018
Muscular dystrophy, limb-girdle, type 2R129Aug 29, 2018
Muscular dystrophy, limb-girdle, type 2W37Aug 29, 2018
Muscular dystrophy, limb-girdle, type 2y33Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1038Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1146Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1235Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1326Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1444Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 865Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 977Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1444Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1235Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1444Aug 29, 2018
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 752Aug 29, 2018
Myasthenia, limb-girdle, familial100Aug 29, 2018
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency39Aug 29, 2018
Myasthenic syndrome, congenital, 1432Aug 29, 2018
Myasthenic syndrome, congenital, 1514Aug 29, 2018
Myasthenic syndrome, congenital, 1780Aug 29, 2018
Myasthenic syndrome, congenital, 189Aug 29, 2018
Myasthenic syndrome, congenital, 20, presynaptic47Aug 29, 2018
Myasthenic syndrome, congenital, 2242Aug 29, 2018
Myasthenic syndrome, congenital, 2a, slow-channel37Aug 29, 2018
Myasthenic syndrome, congenital, 4a, slow-channel78Aug 29, 2018
Myasthenic syndrome, congenital, 8261Aug 29, 2018
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency70Aug 29, 2018
Mycobacterial and viral infections, susceptibility to, autosomal recessive30Aug 29, 2018
Myd88 deficiency12Aug 29, 2018
Myoclonic dystonia66Aug 29, 2018
Myoclonic-atonic epilepsy70Aug 29, 2018
Myofibrillar myopathy 1133Aug 29, 2018
Myofibrillar myopathy 343Aug 29, 2018
Myofibrillar myopathy, BAG3-related141Aug 29, 2018
Myofibrillar myopathy, ZASP-related154Aug 29, 2018
Myofibrillar myopathy, filamin C-related694Aug 29, 2018
Myopathy with postural muscle atrophy, X-linked57Aug 29, 2018
Myopathy with tubular aggregates69Aug 29, 2018
Myopathy, X-linked, with excessive autophagy9Aug 29, 2018
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset91Aug 29, 2018
Myopathy, centronuclear, 314Aug 29, 2018
Myopathy, centronuclear, 478Aug 29, 2018
Myopathy, congenital, compton-north53Aug 29, 2018
Myopathy, distal, 4694Aug 29, 2018
Myopathy, isolated mitochondrial, autosomal dominant25Aug 29, 2018
Myopathy, tubular aggregate, 214Aug 29, 2018
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB42Aug 29, 2018
NIK deficiency28Aug 29, 2018
Nakajo syndrome20Aug 29, 2018
Nance-Horan syndrome25Aug 29, 2018
Native American myopathy24Aug 29, 2018
Naxos disease142Aug 29, 2018
Nemaline myopathy 116Aug 29, 2018
Nemaline myopathy 1070Aug 29, 2018
Nemaline myopathy 2771Aug 29, 2018
Nemaline myopathy 355Aug 29, 2018
Nemaline myopathy 526Aug 29, 2018
Nemaline myopathy 684Aug 29, 2018
Nemaline myopathy 77Aug 29, 2018
Nemaline myopathy 865Aug 29, 2018
Nemaline myopathy 928Aug 29, 2018
Neonatal adrenoleucodystrophy3Aug 29, 2018
Nephronophthisis411Aug 29, 2018
Nephronophthisis 1444Aug 29, 2018
Nephronophthisis 1529Aug 29, 2018
Nephronophthisis 1636Aug 29, 2018
Nephronophthisis 1811Aug 29, 2018
Nephronophthisis 919Aug 29, 2018
Nephronophthisis-like nephropathy 110Aug 29, 2018
Nephropathic cystinosis16Aug 29, 2018
Nephrotic syndrome, type 5, with or without ocular abnormalities81Aug 29, 2018
Netherton syndrome59Aug 29, 2018
Neu-laxova syndrome 25Aug 29, 2018
Neuroblastoma 3703Aug 29, 2018
Neurodegeneration with brain iron accumulation 524Aug 29, 2018
Neurodegeneration with brain iron accumulation 64Aug 29, 2018
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant56Aug 29, 2018
Neuroferritinopathy2Aug 29, 2018
Neurofibromatosis, type 12149Aug 29, 2018
Neurofibromatosis, type 2199Aug 29, 2018
Neuronal ceroid lipofuscinosis440Aug 29, 2018
Neuronopathy, distal hereditary motor, type viia47Aug 29, 2018
Neuropathy hereditary sensory and autonomic type 144Aug 29, 2018
Neuropathy, hereditary motor and sensory, Okinawa type39Aug 29, 2018
Neuropathy, hereditary sensory and autonomic, type VI220Aug 29, 2018
Neuropathy, hereditary sensory and autonomic, type VII181Aug 29, 2018
Neuropathy, hereditary sensory and autonomic, type VIII28Aug 29, 2018
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive24Aug 29, 2018
Neutral lipid storage disease with myopathy70Aug 29, 2018
Neutropenia, severe congenital, 7, autosomal recessive35Aug 29, 2018
Neutrophil immunodeficiency syndrome4Aug 29, 2018
Niemann-Pick disease type C152Aug 29, 2018
Niemann-Pick disease type C21Apr 2, 2018
Niemann-Pick disease, type A26Aug 29, 2018
Niemann-Pick disease, type B26Aug 29, 2018
Nocturnal frontal lobe epilepsy10Aug 29, 2018
Non-ketotic hyperglycinemia173Aug 29, 2018
Noonan syndrome29Aug 29, 2018
Noonan syndrome 821Aug 29, 2018
Noonan syndrome 969Aug 29, 2018
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 220Aug 29, 2018
Oculodentodigital dysplasia, autosomal recessive16Aug 29, 2018
Oculofaciocardiodental syndrome43Aug 29, 2018
Odontoonychodermal dysplasia26Aug 29, 2018
Oligodontia-colorectal cancer syndrome733Aug 29, 2018
Oligosynaptic infertility7Aug 29, 2018
Optic atrophy and cataract, autosomal dominant2Aug 29, 2018
Oral-facial-digital syndrome62Aug 29, 2018
Ornithine carbamoyltransferase deficiency29Aug 29, 2018
Orofacial cleft 113Apr 2, 2018
Orofacial cleft 6, susceptibility to20Aug 29, 2018
Orofacial-digital syndrome IV8Aug 29, 2018
Orofaciodigital syndrome 680Aug 29, 2018
Osler hemorrhagic telangiectasia syndrome222Aug 29, 2018
Osteogenesis imperfecta type 732Aug 29, 2018
Osteogenesis imperfecta type 874Aug 29, 2018
Osteogenesis imperfecta type I398Aug 29, 2018
Osteomyelitis, sterile multifocal, with periostitis and pustulosis15Aug 29, 2018
Oto-palato-digital syndrome, type II334Aug 29, 2018
PRPH2-Related Disorders1Oct 5, 2017
PTEN hamartoma tumor syndrome410Aug 29, 2018
Paget disease of bone 2, early-onset47Aug 29, 2018
Pallister-Hall syndrome61Aug 29, 2018
Pancreatic adenocarcinoma151Aug 29, 2018
Papillon-Lefèvre syndrome11Aug 29, 2018
Paraganglioma and gastric stromal sarcoma139Aug 29, 2018
Paragangliomas 1148Aug 29, 2018
Paragangliomas 3138Aug 29, 2018
Paragangliomas 4271Aug 29, 2018
Paragangliomas 5546Aug 29, 2018
Parathyroid carcinoma155Aug 29, 2018
Parietal foramina 12Oct 5, 2017
Parkinson disease 13Aug 29, 2018
Parkinson disease 155Apr 2, 2018
Parkinson disease 176Aug 29, 2018
Parkinson disease 19a, juvenile-onset11Aug 29, 2018
Parkinson disease 258Aug 29, 2018
Parkinson disease 20, early-onset133Aug 29, 2018
Parkinson disease 6, autosomal recessive early-onset8Aug 29, 2018
Parkinson disease 77Aug 29, 2018
Parkinson disease 8, autosomal dominant44Aug 29, 2018
Parkinson disease 958Aug 29, 2018
Paroxysmal nonkinesigenic dyskinesia 160Aug 29, 2018
Partial congenital absence of teeth7Aug 29, 2018
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency5Aug 29, 2018
Pena-Shokeir syndrome type I209Aug 29, 2018
Periodontitis16Aug 29, 2018
Periodontitis, aggressive, 111Aug 29, 2018
Peripheral neuropathy36Aug 29, 2018
Periventricular nodular heterotopia 1336Aug 29, 2018
Peroxisome biogenesis disorder 11A7Aug 29, 2018
Peroxisome biogenesis disorder 12A3Aug 29, 2018
Peroxisome biogenesis disorder 3A3Aug 29, 2018
Peroxisome biogenesis disorder 5a (zellweger)2Aug 29, 2018
Peroxisome biogenesis disorder 7A2Aug 29, 2018
Peroxisome biogenesis disorder 7B2Aug 29, 2018
Peroxisome biogenesis disorder 9B4Aug 29, 2018
Peroxisome biogenesis disorder, complementation group 73Apr 2, 2018
Peroxisome biogenesis disorder, complementation group K4Aug 29, 2018
Peroxisome biogenesis disorders, Zellweger syndrome spectrum11Aug 29, 2018
Perrault syndrome3Aug 29, 2018
Perrault syndrome 14Oct 5, 2017
Perry syndrome131Aug 29, 2018
Peters plus syndrome5Aug 29, 2018
Peutz-Jeghers syndrome552Aug 29, 2018
Pfeiffer syndrome23Aug 29, 2018
Phenylketonuria114Aug 29, 2018
Pheochromocytoma401Aug 29, 2018
Phosphoglycerate dehydrogenase deficiency6Aug 29, 2018
Pick's disease17Aug 29, 2018
Pierpont syndrome17Aug 29, 2018
Pierson syndrome81Aug 29, 2018
Pigmentary pallidal degeneration24Aug 29, 2018
Pitt-Hopkins syndrome63Aug 29, 2018
Pitt-Hopkins-like syndrome 1195Aug 29, 2018
Pitt-Hopkins-like syndrome 2152Aug 29, 2018
Pityriasis rubra pilaris90Aug 29, 2018
Polyagglutinable erythrocyte syndrome1Oct 5, 2017
Polyarteritis nodosa, childhoood-onset37Aug 29, 2018
Polycystic kidney disease, autosomal dominant40Aug 29, 2018
Polyglandular autoimmune syndrome, type 158Aug 29, 2018
Polyglucosan body myopathy 1 with or without immunodeficiency22Aug 29, 2018
Polyglucosan body myopathy 27Aug 29, 2018
Polyhydramnios, megalencephaly, and symptomatic epilepsy41Aug 29, 2018
Pontocerebellar hypoplasia type 124Aug 29, 2018
Pontocerebellar hypoplasia type 1A10Apr 2, 2018
Pontocerebellar hypoplasia, type 1b6Aug 29, 2018
Pontocerebellar hypoplasia, type 913Aug 29, 2018
Popliteal pterygium syndrome20Aug 29, 2018
Porokeratosis, disseminated superficial actinic 129Aug 29, 2018
Premature aging syndrome, Penttinen type22Aug 29, 2018
Primary ciliary dyskinesia 2396Aug 29, 2018
Primary dilated cardiomyopathy279Aug 29, 2018
Primary familial hypertrophic cardiomyopathy271Aug 29, 2018
Primary open angle glaucoma11Aug 29, 2018
Primary pulmonary hypertension30Aug 29, 2018
Primary pulmonary hypertension 25Apr 2, 2018
Primary pulmonary hypertension 34Aug 29, 2018
Primary pulmonary hypertension 415Aug 29, 2018
Progressive familial heart block type 1B99Aug 29, 2018
Progressive myoclonic epilepsy166Aug 29, 2018
Progressive myoclonus epilepsy with ataxia83Aug 29, 2018
Progressive sclerosing poliodystrophy233Aug 29, 2018
Proline dehydrogenase deficiency23Aug 29, 2018
Propionyl-CoA carboxylase deficiency44Aug 29, 2018
Prothrombin deficiency, congenital1Aug 29, 2018
Pseudo-Hurler polydystrophy9Aug 29, 2018
Pseudohypoaldosteronism type 2C176Aug 29, 2018
Pseudoneonatal adrenoleukodystrophy5Aug 29, 2018
Psoriasis susceptibility 290Aug 29, 2018
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3119Aug 29, 2018
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 421Aug 29, 2018
Pure or complex autosomal recessive spastic paraplegia4Aug 29, 2018
Purine-nucleoside phosphorylase deficiency16Aug 29, 2018
Pustular psoriasis, generalized11Aug 29, 2018
Pyogenic arthritis, pyoderma gangrenosum and acne44Aug 29, 2018
Pyridoxal 5'-phosphate-dependent epilepsy22Aug 29, 2018
Pyridoxine-dependent epilepsy84Aug 29, 2018
Pyruvate carboxylase deficiency9Aug 29, 2018
Pyruvate dehydrogenase E1-alpha deficiency6Aug 29, 2018
Pyruvate dehydrogenase E1-beta deficiency3Aug 29, 2018
Pyruvate dehydrogenase E2 deficiency3Aug 29, 2018
Pyruvate dehydrogenase lipoic acid synthetase deficiency49Aug 29, 2018
RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE12Aug 29, 2018
RYR1-Related Disorders749Aug 29, 2018
Radial aplasia-thrombocytopenia syndrome3Aug 29, 2018
Rasopathy615Aug 29, 2018
Reduced antithrombin III activity27Aug 29, 2018
Renal carnitine transport defect122Aug 29, 2018
Renal cell carcinoma, papillary, 1488Aug 29, 2018
Renal coloboma syndrome5Aug 29, 2018
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia33Aug 29, 2018
Renal hamartomas nephroblastomatosis and fetal gigantism381Aug 29, 2018
Reticular dysgenesis16Aug 29, 2018
Retinitis pigmentosa 1213Aug 29, 2018
Retinitis pigmentosa 2011Aug 29, 2018
Retinitis pigmentosa 552Aug 29, 2018
Retinitis pigmentosa 594Aug 29, 2018
Retinitis pigmentosa 7118Aug 29, 2018
Retinitis pigmentosa 7314Aug 29, 2018
Retinoblastoma368Aug 29, 2018
Rett syndrome18Mar 14, 2017
Rett syndrome, congenital variant56Aug 29, 2018
Rhabdoid tumor predisposition syndrome 1117Aug 29, 2018
Rhabdoid tumor predisposition syndrome 21154Aug 29, 2018
Rigidity and multifocal seizure syndrome, lethal neonatal171Aug 29, 2018
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked30Aug 29, 2018
Rubinstein-Taybi syndrome48Aug 29, 2018
Rubinstein-Taybi syndrome 230Aug 29, 2018
SHORT syndrome23Aug 29, 2018
SPERMATOGENIC FAILURE 18283Aug 29, 2018
STAT3 gain of function26Aug 29, 2018
Saethre-Chotzen syndrome24Aug 29, 2018
Salla disease5Aug 29, 2018
Salt and pepper developmental regression syndrome33Aug 29, 2018
Sandhoff disease13Aug 29, 2018
Schimke immunoosseous dysplasia37Aug 29, 2018
Schindler disease, type 16Aug 29, 2018
Schneckenbecken dysplasia1Aug 29, 2018
Schuurs-hoeijmakers syndrome7Oct 5, 2017
Schwannomatosis10Mar 14, 2017
Sclerosing cholangitis, neonatal10Aug 29, 2018
Sclerosteosis 280Aug 29, 2018
SeSAME syndrome38Aug 29, 2018
Seizures, cortical blindness, and microcephaly syndrome70Aug 29, 2018
Senior-Loken syndrome 711Aug 29, 2018
Senior-Loken syndrome 817Aug 29, 2018
Septo-optic dysplasia sequence2Apr 2, 2018
Severe X-linked myotubular myopathy34Aug 29, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type32Aug 29, 2018
Severe combined immunodeficiency due to ADA deficiency25Aug 29, 2018
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10Aug 29, 2018
Severe combined immunodeficiency with sensitivity to ionizing radiation41Aug 29, 2018
Severe combined immunodeficiency, atypical18Apr 2, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative49Aug 29, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive98Aug 29, 2018
Severe congenital neutropenia 2, autosomal dominant22Aug 29, 2018
Severe congenital neutropenia 3, autosomal recessive10Aug 29, 2018
Severe congenital neutropenia 4, autosomal recessive13Aug 29, 2018
Severe congenital neutropenia 5, autosomal recessive14Aug 29, 2018
Severe congenital neutropenia 6, autosomal recessive11Aug 29, 2018
Severe congenital neutropenia X-linked27Aug 29, 2018
Severe congenital neutropenia autosomal dominant30Aug 29, 2018
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive61Aug 29, 2018
Severe myoclonic epilepsy in infancy45Aug 29, 2018
Severe neonatal-onset encephalopathy with microcephaly126Aug 29, 2018
Shaheen syndrome9Aug 29, 2018
Short QT syndrome 345Aug 29, 2018
Short rib polydactyly syndrome 519Aug 29, 2018
Short rib-polydactyly syndrome, Majewski type16Aug 29, 2018
Short-rib thoracic dysplasia 10 with or without polydactyly18Aug 29, 2018
Short-rib thoracic dysplasia 11 with or without polydactyly13Aug 29, 2018
Short-rib thoracic dysplasia 13 with or without polydactyly16Aug 29, 2018
Short-rib thoracic dysplasia 14 with polydactyly38Aug 29, 2018
Short-rib thoracic dysplasia 8 with or without polydactyly22Aug 29, 2018
Shprintzen-Goldberg syndrome122Aug 29, 2018
Sialuria51Aug 29, 2018
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay11Aug 29, 2018
Singleton-Merten syndrome 154Aug 29, 2018
Sitosterolemia2Apr 2, 2018
Situs inversus totalis8Aug 29, 2018
Smith-Lemli-Opitz syndrome26Aug 29, 2018
Sotos syndrome 28Aug 29, 2018
Spastic paraplegia662Aug 29, 2018
Spastic paraplegia 11, autosomal recessive378Aug 29, 2018
Spastic paraplegia 216Aug 29, 2018
Spastic paraplegia 28, autosomal recessive28Aug 29, 2018
Spastic paraplegia 348Aug 29, 2018
Spastic paraplegia 30, autosomal recessive247Aug 29, 2018
Spastic paraplegia 31, autosomal dominant42Aug 29, 2018
Spastic paraplegia 3964Aug 29, 2018
Spastic paraplegia 4, autosomal dominant126Aug 29, 2018
Spastic paraplegia 43, autosomal recessive14Aug 29, 2018
Spastic paraplegia 45, autosomal recessive15Aug 29, 2018
Spastic paraplegia 47, autosomal recessive28Aug 29, 2018
Spastic paraplegia 48, autosomal recessive88Aug 29, 2018
Spastic paraplegia 49, autosomal recessive53Aug 29, 2018
Spastic paraplegia 50, autosomal recessive24Aug 29, 2018
Spastic paraplegia 53, autosomal recessive12Aug 29, 2018
Spastic paraplegia 54, autosomal recessive26Aug 29, 2018
Spastic paraplegia 57, autosomal recessive39Aug 29, 2018
Spastic paraplegia 624Aug 29, 2018
Spastic paraplegia 61, autosomal recessive5Aug 29, 2018
Spastic paraplegia 62, autosomal recessive1Oct 5, 2017
Spastic paraplegia 63, autosomal recessive13Aug 29, 2018
Spastic paraplegia 64, autosomal recessive6Apr 2, 2018
Spastic paraplegia 776Aug 29, 2018
Spastic paraplegia 72, autosomal recessive1Oct 5, 2017
Spastic paraplegia 73, autosomal dominant17Aug 29, 2018
Spastic paraplegia 74, autosomal recessive11Aug 29, 2018
Spastic paraplegia 75, autosomal recessive20Aug 29, 2018
Spastic paraplegia 78, autosomal recessive56Aug 29, 2018
Spastic paraplegia 832Aug 29, 2018
Spastic paraplegia 928Aug 29, 2018
Specific granule deficiency11Aug 29, 2018
Sphingolipid activator protein 1 deficiency4Aug 29, 2018
Spinal muscular atrophy4Aug 29, 2018
Spinal muscular atrophy, X-linked 239Aug 29, 2018
Spinal muscular atrophy, distal, autosomal recessive, 1185Aug 29, 2018
Spinal muscular atrophy, distal, autosomal recessive, 528Aug 29, 2018
Spinal muscular atrophy, jokela type25Aug 29, 2018
Spinal muscular atrophy, late-onset, finkel type21Aug 29, 2018
Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant84Aug 29, 2018
Spinocerebellar ataxia 1935Aug 29, 2018
Spinocerebellar ataxia autosomal recessive 1143Aug 29, 2018
Spinocerebellar ataxia, autosomal recessive 12156Aug 29, 2018
Spinocerebellar ataxia, autosomal recessive 8459Aug 29, 2018
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like14Aug 29, 2018
Spondylocostal dysostosis 34Apr 2, 2018
Spondyloenchondrodysplasia with immune dysregulation18Aug 29, 2018
Spondyloepimetaphyseal dysplasia with joint laxity6Aug 29, 2018
Spondyloepimetaphyseal dysplasia, pakistani type6Aug 29, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations4Aug 29, 2018
Spongy degeneration of central nervous system6Aug 29, 2018
Sting-associated vasculopathy, infantile-onset19Aug 29, 2018
Stormorken syndrome69Aug 29, 2018
Succinate-semialdehyde dehydrogenase deficiency85Aug 29, 2018
Succinyl-CoA acetoacetate transferase deficiency2Aug 29, 2018
Sulfite oxidase deficiency6Aug 29, 2018
Supravalvar aortic stenosis63Aug 29, 2018
Surfactant metabolism dysfunction, pulmonary, 423Aug 29, 2018
Symmetrical dyschromatosis of extremities33Aug 29, 2018
Syndactyly Cenani Lenz type80Aug 29, 2018
Syndromic X-linked mental retardation, Cabezas type9Aug 29, 2018
T-cell immunodeficiency with epidermodysplasia verruciformis6Aug 29, 2018
T-cell immunodeficiency, congenital alopecia and nail dystrophy29Aug 29, 2018
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations14Aug 29, 2018
TARDBP-related frontotemporal dementia8Aug 29, 2018
TNF receptor-associated periodic fever syndrome (TRAPS)22Aug 29, 2018
TP63-Related Spectrum Disorders17Aug 29, 2018
Tatton-Brown-rahman syndrome20Aug 29, 2018
Tay-Sachs disease20Aug 29, 2018
Tay-Sachs disease, variant AB1Apr 2, 2018
Telangiectasia, hereditary hemorrhagic, type 515Aug 29, 2018
Temtamy preaxial brachydactyly syndrome7Aug 29, 2018
Temtamy syndrome23Aug 29, 2018
Tenorio syndrome5Aug 29, 2018
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)12Aug 29, 2018
Thoracic aortic aneurysm and aortic dissection1039Aug 29, 2018
Thrombocytopenia, X-linked27Aug 29, 2018
Thrombophilia due to protein S deficiency, autosomal recessive33Aug 29, 2018
Thrombophilia, X-linked, due to factor IX defect10Aug 29, 2018
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant36Aug 29, 2018
Tietz syndrome1Aug 29, 2018
Tooth agenesis, selective, 426Aug 29, 2018
Townes syndrome23Aug 29, 2018
Transcobalamin I deficiency3Aug 29, 2018
Transcobalamin II deficiency34Aug 29, 2018
Transposition of the great arteries, dextro-looped 151Aug 29, 2018
Treacher Collins syndrome 143Aug 29, 2018
Tremor, hereditary essential, 418Aug 29, 2018
Trichorhinophalangeal dysplasia type I18Aug 29, 2018
Trichorhinophalangeal syndrome type 318Aug 29, 2018
Troyer syndrome25Aug 29, 2018
Tuberous sclerosis 1771Aug 29, 2018
Tuberous sclerosis 22019Aug 29, 2018
Tumor susceptibility linked to germline BAP1 mutations333Aug 29, 2018
Type A2 brachydactyly5Aug 29, 2018
Tyrosine kinase 2 deficiency62Aug 29, 2018
Tyrosinemia type 21Oct 5, 2017
Tyrosinemia type I17Aug 29, 2018
UDPglucose-4-epimerase deficiency6Aug 29, 2018
Ullrich congenital muscular dystrophy 2232Aug 29, 2018
Ulnar-mammary syndrome3Aug 29, 2018
Usher syndrome, type 3B43Aug 29, 2018
Van der Woude syndrome24Aug 29, 2018
Van der Woude syndrome 24Oct 5, 2017
Vasculopathy, retinal, with cerebral leukodystrophy18Aug 29, 2018
Ventricular tachycardia, catecholaminergic polymorphic, 411Aug 29, 2018
Verloes Bourguignon syndrome16Aug 29, 2018
Very long chain acyl-CoA dehydrogenase deficiency129Aug 29, 2018
Vici syndrome92Aug 29, 2018
Visceral heterotaxy 5, autosomal14Aug 29, 2018
Vitamin B2 deficiency4Aug 29, 2018
Von Hippel-Lindau syndrome298Aug 29, 2018
Waardenburg syndrome type 2A1Aug 29, 2018
Walker-Warburg congenital muscular dystrophy290Aug 29, 2018
Warburg micro syndrome 223Aug 29, 2018
Warts, hypogammaglobulinemia, infections, and myelokathexis6Aug 29, 2018
Weaver syndrome33Aug 29, 2018
Welander distal myopathy19Aug 29, 2018
Werner syndrome615Aug 29, 2018
Wilms tumor 1347Aug 29, 2018
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome201Aug 29, 2018
Wilson disease96Aug 29, 2018
Wilson-Turner X-linked mental retardation syndrome17Aug 29, 2018
Wiskott-Aldrich syndrome27Aug 29, 2018
Wiskott-Aldrich syndrome 215Aug 29, 2018
X-linked agammaglobulinemia with growth hormone deficiency25Aug 29, 2018
X-linked severe combined immunodeficiency25Aug 29, 2018
Xanthinuria type 220Aug 29, 2018
Xeroderma pigmentosum, group F61Aug 29, 2018
ZAP70-Related Severe Combined Immunodeficiency10Aug 29, 2018
Zellweger syndrome14Aug 29, 2018
Zonular pulverulent cataract 310Aug 29, 2018
heterogeneous nuclear ribonucleoprotein G, human62Aug 29, 2018
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency13Aug 29, 2018
not provided2Mar 14, 2017
not specified561Mar 14, 2017

Testing in GTR

Disease nameNumber of tests
2,4-Dienoyl-CoA reductase deficiency1 test
2-methyl-3-hydroxybutyric aciduria4 tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency5 tests
3-Methylglutaconic aciduria type 15 tests
3-Methylglutaconic aciduria type 28 tests
3-Methylglutaconic aciduria type 34 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
3-methylcrotonyl CoA carboxylase 2 deficiency5 tests
3-methylglutaconic aciduria type V4 tests
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia4 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome4 tests
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency3 tests
4-Hydroxyphenylpyruvate dioxygenase deficiency3 tests
46,XX sex reversal, type 11 test
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy1 test
46,XY sex reversal, type 11 test
46,XY sex reversal, type 21 test
46,XY sex reversal, type 31 test
46,XY sex reversal, type 61 test
46,XY sex reversal, type 71 test
5-Oxoprolinase deficiency1 test
6-pyruvoyl-tetrahydropterin synthase deficiency5 tests
ADULT syndrome1 test
ALG12-congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
ANO5-Related Muscle Diseases4 tests
ATR-X syndrome3 tests
Aase syndrome2 tests
Achondrogenesis, type IA1 test
Achondroplasia1 test
Acrocallosal syndrome, Schinzel type2 tests
Acrocephalosyndactyly type I1 test
Acromesomelic dysplasia Maroteaux type1 test
Acute intermittent porphyria1 test
Acute lymphoid leukemia4 tests
Acute myeloid leukemia4 tests
Adams-Oliver syndrome2 tests
Adams-Oliver syndrome 52 tests
Adenylosuccinate lyase deficiency3 tests
Adolescent nephronophthisis4 tests
Adrenocortical carcinoma, hereditary1 test
Adrenoleukodystrophy4 tests
Adult neuronal ceroid lipofuscinosis3 tests
Adult proximal spinal muscular atrophy, autosomal dominant3 tests
Agammaglobulinemia1 test
Agammaglobulinemia 2, autosomal recessive2 tests
Agammaglobulinemia 3, autosomal recessive2 tests
Agammaglobulinemia 4, autosomal recessive2 tests
Agammaglobulinemia 6, autosomal recessive2 tests
Agammaglobulinemia 7, autosomal recessive5 tests
Aicardi Goutieres syndrome3 tests
Aicardi Goutieres syndrome 12 tests
Aicardi Goutieres syndrome 22 tests
Aicardi Goutieres syndrome 32 tests
Aicardi Goutieres syndrome 42 tests
Aicardi Goutieres syndrome 53 tests
Aicardi-Goutieres syndrome 63 tests
Aicardi-Goutieres syndrome 72 tests
Alacrima, achalasia, and mental retardation syndrome1 test
Alagille syndrome 13 tests
Alagille syndrome 22 tests
Alkaptonuria1 test
Allan-Herndon-Dudley syndrome2 tests
Alpha thalassemia-mental retardation syndrome3 tests
Alpha-B crystallinopathy4 tests
Alpha-ketoglutarate dehydrogenase deficiency1 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity5 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood2 tests
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 22 tests
Alzheimer disease, type 32 tests
Alzheimer disease, type 42 tests
Alzheimer's disease2 tests
Amish lethal microcephaly1 test
Amyloidogenic transthyretin amyloidosis6 tests
Amyotrophic lateral sclerosis3 tests
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia3 tests
Amyotrophic lateral sclerosis 182 tests
Amyotrophic lateral sclerosis 214 tests
Amyotrophic lateral sclerosis type 13 tests
Amyotrophic lateral sclerosis type 103 tests
Amyotrophic lateral sclerosis type 122 tests
Amyotrophic lateral sclerosis type 22 tests
Amyotrophic lateral sclerosis type 52 tests
Amyotrophic lateral sclerosis type 63 tests
Amyotrophic lateral sclerosis type 82 tests
Anauxetic dysplasia 13 tests
Andersen Tawil syndrome3 tests
Androgen resistance syndrome2 tests
Anemia without thromobocytopenia, X-linked3 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency5 tests
Angelman syndrome2 tests
Angelman syndrome-like3 tests
Aniridia 16 tests
Anophthalmia-microphthalmia syndrome6 tests
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 61 test
Anterior segment mesenchymal dysgenesis1 test
Antley-Bixler syndrome1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic valve disease 21 test
Aortic valve disorder2 tests
Aplastic anemia7 tests
Arginase deficiency5 tests
Arginine:glycine amidinotransferase deficiency3 tests
Argininosuccinate lyase deficiency4 tests
Arrhythmia7 tests
Arrhythmogenic right ventricular cardiomyopathy5 tests
Arrhythmogenic right ventricular cardiomyopathy, type 105 tests
Arrhythmogenic right ventricular cardiomyopathy, type 115 tests
Arrhythmogenic right ventricular cardiomyopathy, type 125 tests
Arrhythmogenic right ventricular cardiomyopathy, type 55 tests
Arrhythmogenic right ventricular cardiomyopathy, type 85 tests
Arrhythmogenic right ventricular cardiomyopathy, type 95 tests
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arrhythmogenic right ventricular dysplasia, familial, 26 tests
Arteriohepatic dysplasia3 tests
Aspartylglucosaminuria3 tests
Asphyxiating thoracic dystrophy 22 tests
Asphyxiating thoracic dystrophy 42 tests
Asphyxiating thoracic dystrophy 53 tests
Ataxia, spastic, 1, autosomal dominant2 tests
Ataxia, spastic, 2, autosomal recessive2 tests
Ataxia-telangiectasia syndrome9 tests
Atrial fibrillation2 tests
Atrial fibrillation, familial, 12 tests
Atrial fibrillation, familial, 72 tests
Atrial septal defect2 tests
Atrial septal defect 22 tests
Atrial septal defect 31 test
Atrial septal defect 52 tests
Atrial septal defect 7 with or without atrioventricular conduction defects2 tests
Atrial septal defect 91 test
Atrioventricular septal defect2 tests
Atrioventricular septal defect 21 test
Atrioventricular septal defect 42 tests
Atrioventricular septal defect 51 test
Atrioventricular septal defect and common atrioventricular junction2 tests
Attenuated FAP7 tests
Atypical mycobacteriosis, familial, X-linked 25 tests
Autoimmune disease, multisystem, infantile-onset, 16 tests
Autoimmune disease, multisystem, infantile-onset, 24 tests
Autoimmune disease, syndromic multisystem2 tests
Autoimmune interstitial lung, joint, and kidney disease2 tests
Autoimmune lymphoproliferatiVe syndrome, type V5 tests
Autoimmune lymphoproliferative syndrome3 tests
Autoimmune lymphoproliferative syndrome, type 1b3 tests
Autoimmune lymphoproliferative syndrome, type 2A2 tests
Autoimmune lymphoproliferative syndrome, type III4 tests
Autoinflammation with infantile enterocolitis5 tests
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated6 tests
Autosomal dominant hypohidrotic ectodermal dysplasia1 test
Autosomal dominant nocturnal frontal lobe epilepsy1 test
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11 test
Autosomal dominant torsion dystonia 41 test
Autosomal recessive axonal neuropathy with neuromyotonia4 tests
Autosomal recessive centronuclear myopathy5 tests
Autosomal recessive cutis laxa type 1B1 test
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome1 test
Autosomal recessive polycystic kidney disease3 tests
Axenfeld-Rieger syndrome type 13 tests
Axenfeld-Rieger syndrome type 21 test
Axenfeld-Rieger syndrome type 33 tests
Ayme-gripp syndrome1 test
B-cell expansion with NFKB and T-cell anergy3 tests
Baller-Gerold syndrome1 test
Bannayan-Riley-Ruvalcaba syndrome13 tests
Baraitser-Winter Syndrome 21 test
Baraitser-Winter syndrome 12 tests
Bardet-Biedl syndrome5 tests
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 102 tests
Bardet-Biedl syndrome 112 tests
Bardet-Biedl syndrome 122 tests
Bardet-Biedl syndrome 133 tests
Bardet-Biedl syndrome 143 tests
Bardet-Biedl syndrome 152 tests
Bardet-Biedl syndrome 164 tests
Bardet-Biedl syndrome 22 tests
Bardet-Biedl syndrome 32 tests
Bardet-Biedl syndrome 42 tests
Bardet-Biedl syndrome 52 tests
Bardet-Biedl syndrome 62 tests
Bardet-Biedl syndrome 72 tests
Bardet-Biedl syndrome 82 tests
Bardet-Biedl syndrome 92 tests
Bare lymphocyte syndrome 24 tests
Bare lymphocyte syndrome type 13 tests
Basal cell carcinoma, multiple4 tests
Becker muscular dystrophy1 test
Beckwith-Wiedemann syndrome6 tests
Benign Rolandic epilepsy1 test
Benign familial neonatal seizures2 tests
Benign familial neonatal seizures 12 tests
Benign familial neonatal seizures 22 tests
Benign familial neonatal-infantile seizures2 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy5 tests
Beta-D-mannosidosis2 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency2 tests
Beta-propeller protein-associated neurodegeneration1 test
Bethlem myopathy 12 tests
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral right-sidedness sequence2 tests
Bile acid synthesis defect, congenital, 41 test
Biotin-Responsive Multiple Carboxylase Deficiencies7 tests
Biotin-thiamine-responsive basal ganglia disease3 tests
Biotinidase deficiency7 tests
Bladder cancer, somatic3 tests
Bladder carcinoma2 tests
Blau syndrome2 tests
Bloom syndrome3 tests
Bone marrow failure syndrome 11 test
Borjeson-Forssman-Lehmann syndrome1 test
Branchiootic syndrome1 test
Branchiootic syndrome 31 test
Branchiootorenal Spectrum Disorders1 test
Breast and/or ovarian cancer2 tests
Breast cancer, early-onset8 tests
Breast cancer, familial male3 tests
Breast cancer, lobular8 tests
Breast cancer, susceptibility to11 tests
Breast-ovarian cancer, familial 110 tests
Breast-ovarian cancer, familial 211 tests
Breast-ovarian cancer, familial 34 tests
Breast-ovarian cancer, familial 42 tests
Brody myopathy3 tests
Brown-Vialetto-Van Laere syndrome1 test
Brown-Vialetto-Van Laere syndrome 13 tests
Brown-Vialetto-Van Laere syndrome 23 tests
Brugada syndrome3 tests
Brugada syndrome 13 tests
Brugada syndrome 23 tests
Brugada syndrome 35 tests
Brugada syndrome 43 tests
Brugada syndrome 83 tests
Bulbo-spinal atrophy X-linked1 test
CDC73-Related Disorders3 tests
CHARGE association5 tests
CHRNA1-Related Congenital Myasthenic Syndrome2 tests
COACH syndrome2 tests
COG1 congenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation1 test
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm1 test
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq1 test
Café-au-lait macules with pulmonary stenosis3 tests
Camptodactyly, tall stature, and hearing loss syndrome1 test
Camptomelic dysplasia1 test
Candidiasis, familial, 21 test
Candidiasis, familial, 62 tests
Candidiasis, familial, 82 tests
Candidiasis, familial, 92 tests
Capillary malformation-arteriovenous malformation3 tests
Carbohydrate-deficient glycoprotein syndrome type I2 tests
Carbohydrate-deficient glycoprotein syndrome type II1 test
Carcinoid tumor of intestine5 tests
Carcinoma of colon12 tests
Carcinoma of pancreas4 tests
Cardiac arrhythmia7 tests
Cardiac arrhythmia, ankyrin B-related4 tests
Cardiac valvular dysplasia, X-linked1 test
Cardio-facio-cutaneous syndrome3 tests
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 24 tests
Cardiofaciocutaneous syndrome 35 tests
Cardiofaciocutaneous syndrome 45 tests
Cardiomyopathy7 tests
Cardiomyopathy, dilated, 1NN4 tests
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis4 tests
Cardiomyopathy, familial hypertrophic, 265 tests
Carney complex6 tests
Carney complex, type 16 tests
Carnitine acylcarnitine translocase deficiency3 tests
Carnitine palmitoyltransferase I deficiency3 tests
Carnitine palmitoyltransferase II deficiency5 tests
Carnitine palmitoyltransferase II deficiency, infantile5 tests
Carnitine palmitoyltransferase II deficiency, lethal neonatal5 tests
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced6 tests
Carpal tunnel syndrome1 test
Carpenter syndrome 12 tests
Carpenter syndrome 22 tests
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders3 tests
Caspase-8 deficiency3 tests
Cataract1 test
Cataract 11 test
Cataract 111 test
Cataract 12, multiple types1 test
Cataract 13 with adult i phenotype1 test
Cataract 15, multiple types1 test
Cataract 16, multiple types1 test
Cataract 21, multiple types1 test
Cataract 33, multiple types1 test
Cataract 41 test
Cataract 401 test
Cataract and cardiomyopathy1 test
Cataract, autosomal dominant1 test
Cataract, autosomal recessive congenital 21 test
Cataract, autosomal recessive congenital 51 test
Cataract, congenital nuclear, autosomal recessive 21 test
Cataract, congenital nuclear, autosomal recessive 31 test
Cataract, congenital zonular, with sutural opacities1 test
Cataract, coppock-like1 test
Catecholaminergic polymorphic ventricular tachycardia5 tests
Catecholaminergic polymorphic ventricular tachycardia type 11 test
Cd8 deficiency, familial4 tests
Celiac disease5 tests
Celiac disease 35 tests
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency3 tests
Cerebellar ataxia infantile with progressive external ophthalmoplegia1 test
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss2 tests
Cerebral amyloid angiopathy, APP-related2 tests
Cerebral cavernous malformation1 test
Cerebral cavernous malformations 11 test
Cerebral cavernous malformations 21 test
Cerebral cavernous malformations 31 test
Cerebral creatine deficiency syndrome3 tests
Cerebral folate deficiency2 tests
Cerebral palsy, spastic quadriplegic, 11 test
Cerebroretinal microangiopathy with calcifications and cysts 14 tests
Ceroid lipofuscinosis neuronal 13 tests
Ceroid lipofuscinosis neuronal 102 tests
Ceroid lipofuscinosis neuronal 24 tests
Ceroid lipofuscinosis neuronal 53 tests
Ceroid lipofuscinosis neuronal 63 tests
Ceroid lipofuscinosis neuronal 73 tests
Ceroid lipofuscinosis neuronal 83 tests
Ceroid lipofuscinosis, neuronal, 113 tests
Ceroid lipofuscinosis, neuronal, 131 test
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant3 tests
Charcot-Marie-Tooth Neuropathy Type 2H/2K4 tests
Charcot-Marie-Tooth Neuropathy X3 tests
Charcot-Marie-Tooth disease5 tests
Charcot-Marie-Tooth disease and deafness3 tests
Charcot-Marie-Tooth disease dominant intermediate 33 tests
Charcot-Marie-Tooth disease type 2B14 tests
Charcot-Marie-Tooth disease type 2B23 tests
Charcot-Marie-Tooth disease type 2C3 tests
Charcot-Marie-Tooth disease type 2D3 tests
Charcot-Marie-Tooth disease type 2E4 tests
Charcot-Marie-Tooth disease type 2F3 tests
Charcot-Marie-Tooth disease type 2H2 tests
Charcot-Marie-Tooth disease type 2I3 tests
Charcot-Marie-Tooth disease type 2J3 tests
Charcot-Marie-Tooth disease type 2K4 tests
Charcot-Marie-Tooth disease type 2P4 tests
Charcot-Marie-Tooth disease, X-linked recessive, type 53 tests
Charcot-Marie-Tooth disease, axonal type 2X3 tests
Charcot-Marie-Tooth disease, axonal, type 2O3 tests
Charcot-Marie-Tooth disease, axonal, type 2R3 tests
Charcot-Marie-Tooth disease, axonal, type 2S3 tests
Charcot-Marie-Tooth disease, axonal, type 2T3 tests
Charcot-Marie-Tooth disease, axonal, type 2b4 tests
Charcot-Marie-Tooth disease, axonal, type 2w3 tests
Charcot-Marie-Tooth disease, axonal, type 2z3 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1b3 tests
Charcot-Marie-Tooth disease, demyelinating, type 1d4 tests
Charcot-Marie-Tooth disease, demyelinating, type 1f4 tests
Charcot-Marie-Tooth disease, demyelinating, type 4f3 tests
Charcot-Marie-Tooth disease, dominant intermediate B3 tests
Charcot-Marie-Tooth disease, dominant intermediate C3 tests
Charcot-Marie-Tooth disease, dominant intermediate E3 tests
Charcot-Marie-Tooth disease, dominant intermediate F3 tests
Charcot-Marie-Tooth disease, recessive intermediate A3 tests
Charcot-Marie-Tooth disease, recessive intermediate c3 tests
Charcot-Marie-Tooth disease, type 1C3 tests
Charcot-Marie-Tooth disease, type 24 tests
Charcot-Marie-Tooth disease, type 2A2 tests
Charcot-Marie-Tooth disease, type 2A2A4 tests
Charcot-Marie-Tooth disease, type 2L3 tests
Charcot-Marie-Tooth disease, type 2N3 tests
Charcot-Marie-Tooth disease, type 4A4 tests
Charcot-Marie-Tooth disease, type 4B13 tests
Charcot-Marie-Tooth disease, type 4B23 tests
Charcot-Marie-Tooth disease, type 4C3 tests
Charcot-Marie-Tooth disease, type 4D3 tests
Charcot-Marie-Tooth disease, type 4H3 tests
Charcot-Marie-Tooth disease, type 4J3 tests
Charcot-Marie-Tooth disease, type I3 tests
Charcot-Marie-Tooth disease, type IA3 tests
Charcot-Marie-Tooth disease, type IV3 tests
Chilblain lupus 12 tests
Chilblain lupus 23 tests
Child syndrome1 test
Cholestanol storage disease2 tests
Chondrodysplasia punctata 1, X-linked recessive1 test
Chondroectodermal dysplasia3 tests
Chondrosarcoma2 tests
Chops syndrome1 test
Choroidal dystrophy, central areolar 21 test
Choroideremia1 test
Christianson syndrome2 tests
Chromosome 2q32-q33 deletion syndrome3 tests
Chromosome 9q deletion syndrome2 tests
Chronic granulomatous disease5 tests
Chronic granulomatous disease, X-linked5 tests
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 24 tests
Chronic infantile neurological, cutaneous and articular syndrome3 tests
Chronic mucocutaneous candidiasis1 test
Chédiak-Higashi syndrome3 tests
Ciliary dyskinesia3 tests
Ciliary dyskinesia, primary, 103 tests
Ciliary dyskinesia, primary, 113 tests
Ciliary dyskinesia, primary, 123 tests
Ciliary dyskinesia, primary, 133 tests
Ciliary dyskinesia, primary, 143 tests
Ciliary dyskinesia, primary, 153 tests
Ciliary dyskinesia, primary, 163 tests
Ciliary dyskinesia, primary, 173 tests
Ciliary dyskinesia, primary, 183 tests
Ciliary dyskinesia, primary, 193 tests
Ciliary dyskinesia, primary, 23 tests
Ciliary dyskinesia, primary, 203 tests
Ciliary dyskinesia, primary, 213 tests
Ciliary dyskinesia, primary, 223 tests
Ciliary dyskinesia, primary, 263 tests
Ciliary dyskinesia, primary, 273 tests
Ciliary dyskinesia, primary, 283 tests
Ciliary dyskinesia, primary, 293 tests
Ciliary dyskinesia, primary, 33 tests
Ciliary dyskinesia, primary, 303 tests
Ciliary dyskinesia, primary, 323 tests
Ciliary dyskinesia, primary, 333 tests
Ciliary dyskinesia, primary, 63 tests
Ciliary dyskinesia, primary, 73 tests
Ciliary dyskinesia, primary, 93 tests
Citrin deficiency4 tests
Citrullinemia type I4 tests
Citrullinemia type II4 tests
Cleft palate, cardiac defects, and mental retardation2 tests
Coffin-Lowry syndrome1 test
Cohen syndrome3 tests
Collagen VI-related myopathy4 tests
Coloboma of optic disc3 tests
Colorectal cancer 103 tests
Colorectal cancer, susceptibility to, 123 tests
Combined cellular and humoral immune defects with granulomas5 tests
Combined d-2- and l-2-hydroxyglutaric aciduria2 tests
Combined deficiency of sialidase AND beta galactosidase2 tests
Combined immunodeficiency12 tests
Combined immunodeficiency, X-linked7 tests
Combined malonic and methylmalonic aciduria2 tests
Combined molybdoflavoprotein enzyme deficiency4 tests
Combined saposin deficiency3 tests
Common variable immunodeficiency2 tests
Common variable immunodeficiency 16 tests
Common variable immunodeficiency 103 tests
Common variable immunodeficiency 116 tests
Common variable immunodeficiency 26 tests
Common variable immunodeficiency 43 tests
Common variable immunodeficiency 73 tests
Common variable immunodeficiency 8, with autoimmunity6 tests
Complex V deficiency3 tests
Cone-rod dystrophy1 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 61 test
Cone-rod dystrophy, X-linked 12 tests
Congenital Cataracts, Facial Dysmorphism, and Neuropathy1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital amegakaryocytic thrombocytopenia2 tests
Congenital aneurysm of ascending aorta1 test
Congenital bilateral absence of the vas deferens3 tests
Congenital cataract1 test
Congenital cataracts, hearing loss, and neurodegeneration1 test
Congenital disorder of deglycosylation2 tests
Congenital disorder of glycosylation8 tests
Congenital disorder of glycosylation type 1B1 test
Congenital disorder of glycosylation type 1C1 test
Congenital disorder of glycosylation type 1D1 test
Congenital disorder of glycosylation type 1E1 test
Congenital disorder of glycosylation type 1F1 test
Congenital disorder of glycosylation type 1H1 test
Congenital disorder of glycosylation type 1I1 test
Congenital disorder of glycosylation type 1J1 test
Congenital disorder of glycosylation type 1K1 test
Congenital disorder of glycosylation type 1M1 test
Congenital disorder of glycosylation type 1N1 test
Congenital disorder of glycosylation type 1O1 test
Congenital disorder of glycosylation type 1P1 test
Congenital disorder of glycosylation type 1Q1 test
Congenital disorder of glycosylation type 1t1 test
Congenital disorder of glycosylation type 1u1 test
Congenital disorder of glycosylation type 1y1 test
Congenital disorder of glycosylation type 2B2 tests
Congenital disorder of glycosylation type 2C3 tests
Congenital disorder of glycosylation type 2F1 test
Congenital disorder of glycosylation type 2H1 test
Congenital disorder of glycosylation type 2J1 test
Congenital disorder of glycosylation type 2L1 test
Congenital disorder of glycosylation type 2i1 test
Congenital disorder of glycosylation type 2k1 test
Congenital dyserythropoietic anemia1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital glucose-galactose malabsorption1 test
Congenital heart block2 tests
Congenital heart defects2 tests
Congenital heart defects, multiple types, 42 tests
Congenital heart disease2 tests
Congenital hepatic fibrosis1 test
Congenital hyperammonemia, type I4 tests
Congenital hypomyelinating neuropathy 1, autosomal recessive4 tests
Congenital muscular dystrophy5 tests
Congenital muscular dystrophy due to partial LAMA2 deficiency4 tests
Congenital muscular dystrophy, LMNA-related5 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B55 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A25 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A61 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A75 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B15 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B35 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B65 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B45 tests
Congenital muscular hypertrophy-cerebral syndrome3 tests
Congenital myasthenic syndrome6 tests
Congenital myasthenic syndrome 123 tests
Congenital myasthenic syndrome 132 tests
Congenital myasthenic syndrome 1B, fast-channel2 tests
Congenital myasthenic syndrome, acetazolamide-responsive2 tests
Congenital myopathy4 tests
Congenital myopathy with fiber type disproportion6 tests
Congenital myotonia, autosomal dominant form2 tests
Congenital myotonia, autosomal recessive form2 tests
Congenital primary aphakia1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Conotruncal heart malformations2 tests
Copper Transport Disorders1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Costello syndrome7 tests
Cowchock syndrome3 tests
Cowden syndrome11 tests
Cowden syndrome 17 tests
Cowden syndrome 34 tests
Cranioectodermal dysplasia3 tests
Cranioectodermal dysplasia 12 tests
Cranioectodermal dysplasia 22 tests
Cranioectodermal dysplasia 43 tests
Craniosynostosis 11 test
Craniosynostosis 21 test
Craniosynostosis syndrome1 test
Creatine deficiency, X-linked3 tests
Crouzon syndrome1 test
Crouzon syndrome with acanthosis nigricans2 tests
Curry-Hall syndrome3 tests
Cutaneous leiomyoma1 test
Cutaneous malignant melanoma 11 test
Cutaneous malignant melanoma 24 tests
Cutaneous malignant melanoma 32 tests
Cutaneous malignant melanoma 82 tests
Cutaneous malignant melanoma 91 test
Cutaneous melanoma2 tests
Cutis Gyrata syndrome of Beare and Stevenson1 test
Cutis laxa with osteodystrophy1 test
Cutis laxa, X-linked4 tests
Cutis laxa, autosomal dominant 31 test
Cutis laxa-corneal clouding-oligophrenia syndrome1 test
Cyclical neutropenia6 tests
Cystic fibrosis3 tests
Cystinosis2 tests
Cystinosis, ocular nonnephropathic2 tests
Cystinuria1 test
D-2-hydroxyglutaric aciduria 12 tests
D-2-hydroxyglutaric aciduria 22 tests
Danon disease13 tests
De Lange syndrome3 tests
Deafness, autosomal recessive 661 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase4 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2 tests
Deficiency of acetyl-CoA acetyltransferase5 tests
Deficiency of alpha-mannosidase3 tests
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of ferroxidase3 tests
Deficiency of galactokinase3 tests
Deficiency of guanidinoacetate methyltransferase3 tests
Deficiency of hyaluronoglucosaminidase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase6 tests
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase4 tests
Deficiency of phosphoserine phosphatase3 tests
Deficiency of pyrroline-5-carboxylate reductase3 tests
Deficiency of xanthine oxidase1 test
Dejerine-Sottas disease4 tests
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency7 tests
Desmoid disease, hereditary8 tests
DiGeorge sequence2 tests
Diabetes mellitus type 13 tests
Diabetes mellitus type 22 tests
Diabetes mellitus, insulin-dependent, 104 tests
Diabetes mellitus, insulin-dependent, 125 tests
Diamond-Blackfan anemia2 tests
Diamond-Blackfan anemia 12 tests
Diamond-Blackfan anemia 102 tests
Diamond-Blackfan anemia 112 tests
Diamond-Blackfan anemia 32 tests
Diamond-Blackfan anemia 52 tests
Diamond-Blackfan anemia 72 tests
Diamond-Blackfan anemia 82 tests
Diamond-Blackfan anemia 92 tests
Diffuse mesangial sclerosis4 tests
Dihydropteridine reductase deficiency5 tests
Dilated cardiomyopathy 1A5 tests
Dilated cardiomyopathy 1AA5 tests
Dilated cardiomyopathy 1BB5 tests
Dilated cardiomyopathy 1DD5 tests
Dilated cardiomyopathy 1E5 tests
Dilated cardiomyopathy 1F5 tests
Dilated cardiomyopathy 1FF5 tests
Dilated cardiomyopathy 1G5 tests
Dilated cardiomyopathy 1HH4 tests
Dilated cardiomyopathy 1I5 tests
Dilated cardiomyopathy 1II4 tests
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L3 tests
Dilated cardiomyopathy 1M4 tests
Dilated cardiomyopathy 1N4 tests
Dilated cardiomyopathy 1O5 tests
Dilated cardiomyopathy 1P5 tests
Dilated cardiomyopathy 1R4 tests
Dilated cardiomyopathy 1S4 tests
Dilated cardiomyopathy 1W4 tests
Dilated cardiomyopathy 1X4 tests
Dilated cardiomyopathy 1Y4 tests
Dilated cardiomyopathy 1Z4 tests
Dilated cardiomyopathy 2A5 tests
Dilated cardiomyopathy 3B5 tests
Dilated cardiomyopathy with woolly hair and keratoderma4 tests
Disorder of amino acid metabolism4 tests
Disorder of fatty acid metabolism20 tests
Disorder of organic acid metabolism10 tests
Disorder of the urea cycle metabolism11 tests
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
Disorders of Intracellular Cobalamin Metabolism4 tests
Disseminated atypical mycobacterial infection2 tests
Distal hereditary motor neuronopathy2 tests
Distal hereditary motor neuronopathy 2D2 tests
Distal hereditary motor neuronopathy type 2A2 tests
Distal hereditary motor neuronopathy type 2B2 tests
Distal hereditary motor neuronopathy type 54 tests
Distal hereditary motor neuronopathy type 5B2 tests
Distal hereditary motor neuronopathy type 7B3 tests
Distal myopathy4 tests
Distal myopathy Markesbery-Griggs type1 test
Distal myopathy, Tateyama type4 tests
Distal spinal muscular atrophy, X-linked 36 tests
Distal spinal muscular atrophy, autosomal recessive 22 tests
Distal spinal muscular atrophy, autosomal recessive 42 tests
Distal spinal muscular atrophy, congenital nonprogressive2 tests
Dopamine beta hydroxylase deficiency1 test
Drash syndrome6 tests
Duane-radial ray syndrome1 test
Duchenne muscular dystrophy1 test
Dyskeratosis congenita8 tests
Dyskeratosis congenita X-linked5 tests
Dyskeratosis congenita autosomal dominant7 tests
Dyskeratosis congenita autosomal recessive 14 tests
Dyskeratosis congenita, autosomal dominant 62 tests
Dyskeratosis congenita, autosomal dominant, 27 tests
Dyskeratosis congenita, autosomal dominant, 34 tests
Dyskeratosis congenita, autosomal recessive 24 tests
Dyskeratosis congenita, autosomal recessive 62 tests
Dyskeratosis congenita, autosomal recessive, 32 tests
Dyskeratosis congenita, autosomal recessive, 53 tests
Dysostosis multiplex6 tests
Dystonia1 test
Dystonia 11 test
Dystonia 101 test
Dystonia 122 tests
Dystonia 162 tests
Dystonia 241 test
Dystonia 251 test
Dystonia 5, Dopa-responsive type4 tests
Dystonia 6, torsion1 test
Dystransthyretinemic euthyroidal hyperthyroxinemia1 test
Dystrophinopathies1 test
EGFR-related lung cancer1 test
EPIDERMODYSPLASIA VERRUCIFORMIS2 tests
Early infantile epileptic encephalopathy2 tests
Early infantile epileptic encephalopathy 102 tests
Early infantile epileptic encephalopathy 112 tests
Early infantile epileptic encephalopathy 122 tests
Early infantile epileptic encephalopathy 133 tests
Early infantile epileptic encephalopathy 142 tests
Early infantile epileptic encephalopathy 172 tests
Early infantile epileptic encephalopathy 182 tests
Early infantile epileptic encephalopathy 23 tests
Early infantile epileptic encephalopathy 43 tests
Early infantile epileptic encephalopathy 52 tests
Early infantile epileptic encephalopathy 72 tests
Early infantile epileptic encephalopathy 84 tests
Early infantile epileptic encephalopathy 92 tests
Early myoclonic encephalopathy3 tests
Early-Onset Familial Alzheimer Disease2 tests
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant4 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form1 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
Ehlers-Danlos syndrome, musculocontractural type2 tests
Ehlers-Danlos syndrome, procollagen proteinase deficient1 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 42 tests
Ehlers-Danlos syndrome, type vii, autosomal recessive1 test
Ellis-van Creveld Syndrome1 test
Emery-Dreifuss muscular dystrophy5 tests
Emery-Dreifuss muscular dystrophy 1, X-linked6 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive5 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
Encephalopathy, familial, with neuroserpin inclusion bodies1 test
Endometrial carcinoma6 tests
Endometrial neoplasm5 tests
Endplate acetylcholinesterase deficiency2 tests
Epidermal nevus3 tests
Epidermal nevus syndrome2 tests
Epidermolysis bullosa1 test
Epilepsy juvenile absence2 tests
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
Epilepsy, childhood absence 12 tests
Epilepsy, childhood absence 21 test
Epilepsy, childhood absence 42 tests
Epilepsy, childhood absence 52 tests
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, hearing loss, and mental retardation syndrome1 test
Epilepsy, idiopathic generalized 81 test
Epilepsy, juvenile myoclonic 52 tests
Epilepsy, lateral temporal lobe, autosomal dominant1 test
Epilepsy, nocturnal frontal lobe, 52 tests
Epilepsy, nocturnal frontal lobe, type 11 test
Epilepsy, nocturnal frontal lobe, type 31 test
Epilepsy, nocturnal frontal lobe, type 41 test
Epilepsy, progressive myoclonic 33 tests
Epilepsy, progressive myoclonic 4, with or without renal failure1 test
Epilepsy, progressive myoclonic 61 test
Epilepsy, progressive myoclonic 71 test
Epileptic encephalopathy, early infantile, 13 tests
Epileptic encephalopathy, early infantile, 192 tests
Epileptic encephalopathy, early infantile, 242 tests
Epileptic encephalopathy, early infantile, 253 tests
Epileptic encephalopathy, early infantile, 262 tests
Epileptic encephalopathy, early infantile, 272 tests
Epileptic encephalopathy, early infantile, 282 tests
Epileptic encephalopathy, early infantile, 312 tests
Epileptic encephalopathy, early infantile, 322 tests
Epileptic encephalopathy, early infantile, 332 tests
Epileptic encephalopathy, early infantile, 351 test
Epileptic encephalopathy, early infantile, 361 test
Epileptic encephalopathy, early infantile, 372 tests
Epileptic encephalopathy, early infantile, 531 test
Epiphyseal chondrodysplasia, miura type1 test
Episodic pain syndrome, familial, 32 tests
Ethylmalonic encephalopathy5 tests
FG syndrome1 test
FG syndrome 21 test
Fabry disease9 tests
Fabry disease, cardiac variant5 tests
Facial dysmorphism, immunodeficiency, livedo, and short stature2 tests
Familial Mediterranean fever5 tests
Familial adenomatous polyposis 19 tests
Familial amyloid nephropathy with urticaria AND deafness4 tests
Familial aortopathy2 tests
Familial cancer of breast12 tests
Familial chronic mucocutaneous candidiasis1 test
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 24 tests
Familial cold autoinflammatory syndrome 36 tests
Familial cold autoinflammatory syndrome 45 tests
Familial cold urticaria4 tests
Familial colorectal cancer11 tests
Familial dilated cardiomyopathy6 tests
Familial dysautonomia3 tests
Familial episodic pain syndrome 12 tests
Familial febrile seizures 81 test
Familial hemiplegic migraine1 test
Familial hemiplegic migraine type 22 tests
Familial hemophagocytic lymphohistiocytosis4 tests
Familial hypercholesterolemia1 test
Familial hypercholesterolemias1 test
Familial hyperinsulinism1 test
Familial hypertrophic cardiomyopathy 15 tests
Familial hypertrophic cardiomyopathy 104 tests
Familial hypertrophic cardiomyopathy 114 tests
Familial hypertrophic cardiomyopathy 124 tests
Familial hypertrophic cardiomyopathy 134 tests
Familial hypertrophic cardiomyopathy 154 tests
Familial hypertrophic cardiomyopathy 185 tests
Familial hypertrophic cardiomyopathy 25 tests
Familial hypertrophic cardiomyopathy 34 tests
Familial hypertrophic cardiomyopathy 44 tests
Familial hypertrophic cardiomyopathy 65 tests
Familial hypertrophic cardiomyopathy 75 tests
Familial hypertrophic cardiomyopathy 84 tests
Familial hypertrophic cardiomyopathy 94 tests
Familial infantile myasthenia2 tests
Familial mediterranean fever, autosomal dominant5 tests
Familial medullary thyroid carcinoma5 tests
Familial multiple polyposis syndrome9 tests
Familial pancreatic carcinoma4 tests
Familial platelet disorder with associated myeloid malignancy5 tests
Familial prostate cancer1 test
Familial visceral amyloidosis, Ostertag type3 tests
Fanconi anemia2 tests
Fanconi anemia, complementation group A2 tests
Fanconi anemia, complementation group B2 tests
Fanconi anemia, complementation group C2 tests
Fanconi anemia, complementation group D12 tests
Fanconi anemia, complementation group D22 tests
Fanconi anemia, complementation group E2 tests
Fanconi anemia, complementation group F2 tests
Fanconi anemia, complementation group G2 tests
Fanconi anemia, complementation group I2 tests
Fanconi anemia, complementation group J2 tests
Fanconi anemia, complementation group L2 tests
Fanconi anemia, complementation group M2 tests
Fanconi anemia, complementation group N4 tests
Fanconi anemia, complementation group O4 tests
Fanconi anemia, complementation group P2 tests
Fanconi anemia, complementation group Q2 tests
Fanconi-Bickel syndrome2 tests
Farber disease2 tests
Fatal familial insomnia2 tests
Febrile seizures, familial, 12 tests
Fibrous dysplasia of jaw2 tests
Focal segmental glomerulosclerosis 71 test
Follicular lymphoma 11 test
Follicular thyroid carcinoma3 tests
Foveal hypoplasia and presenile cataract syndrome3 tests
Frasier syndrome6 tests
Frontometaphyseal dysplasia1 test
Frontotemporal dementia3 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 23 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 44 tests
Frontotemporal dementia, ubiquitin-positive3 tests
Fructose-biphosphatase deficiency4 tests
Fucosidosis3 tests
Fumarase deficiency5 tests
GARS-Associated Axonal Neuropathy3 tests
GATA-1-related thrombocytopenia with dyserythropoiesis3 tests
GLUT1 deficiency syndrome 11 test
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY2 tests
GM1 gangliosidosis2 tests
GM1 gangliosidosis type 22 tests
GTP cyclohydrolase I deficiency6 tests
Galactosemia2 tests
Galactosylceramide beta-galactosidase deficiency3 tests
Gamma-aminobutyric acid transaminase deficiency1 test
Gangliosidosis GM1 type 32 tests
Gardner syndrome8 tests
Gastric lymphoma1 test
Gastrointestinal stroma tumor6 tests
Gaucher disease3 tests
Gaucher disease, atypical, due to saposin C deficiency3 tests
Generalized epilepsy with febrile seizures plus2 tests
Generalized epilepsy with febrile seizures plus 31 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 22 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy with febrile seizures plus, type 91 test
Genetic prion diseases2 tests
Genitopatellar syndrome1 test
Gerstmann-Straussler-Scheinker syndrome2 tests
Giant axonal neuropathy1 test
Gillespie syndrome3 tests
Gillessen-Kaesbach-Nishimura syndrome1 test
Glaucoma1 test
Glaucoma 3, primary congenital, A1 test
Glaucoma 3, primary infantile, b1 test
Glioma2 tests
Glioma susceptibility 13 tests
Glioma susceptibility 22 tests
Glioma susceptibility 91 test
Glucose 6 phosphate dehydrogenase deficiency2 tests
Glucose-6-phosphate transport defect5 tests
Glutaric acidemia1 test
Glutaric aciduria, type 15 tests
Glutaric aciduria, type 26 tests
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to2 tests
Gluthathione synthetase deficiency2 tests
Glycine N-methyltransferase deficiency2 tests
Glycine encephalopathy with normal serum glycine2 tests
Glycogen phosphorylase kinase deficiency3 tests
Glycogen storage disease8 tests
Glycogen storage disease 0, muscle2 tests
Glycogen storage disease IXb3 tests
Glycogen storage disease IXc2 tests
Glycogen storage disease IXd2 tests
Glycogen storage disease XI2 tests
Glycogen storage disease XV2 tests
Glycogen storage disease type 132 tests
Glycogen storage disease type 1A2 tests
Glycogen storage disease type III3 tests
Glycogen storage disease type IXa12 tests
Glycogen storage disease type X2 tests
Glycogen storage disease, type I5 tests
Glycogen storage disease, type II8 tests
Glycogen storage disease, type IV3 tests
Glycogen storage disease, type V2 tests
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII2 tests
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors2 tests
Gorlin syndrome6 tests
Graft-versus-host disease, susceptibility to4 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative4 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III4 tests
Greig cephalopolysyndactyly syndrome2 tests
Griscelli syndrome type 23 tests
Growth hormone insensitivity with immunodeficiency3 tests
HNSHA due to aldolase A deficiency2 tests
Haim-Munk syndrome2 tests
Hajdu-Cheney syndrome1 test
Hamartoma of hypothalamus2 tests
Hashimoto thyroiditis5 tests
Hay-Wells syndrome of ectodermal dysplasia1 test
Heimler syndrome 21 test
Helicobacter pylori infection, susceptibility to2 tests
Hematologic neoplasm2 tests
Hemochromatosis type 11 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemophagocytic lymphohistiocytosis, familial, 23 tests
Hemophagocytic lymphohistiocytosis, familial, 33 tests
Hemophagocytic lymphohistiocytosis, familial, 43 tests
Hemophagocytic lymphohistiocytosis, familial, 54 tests
Hepatic methionine adenosyltransferase deficiency2 tests
Hepatic venoocclusive disease with immunodeficiency2 tests
Hepatitis b virus, susceptibility to5 tests
Hepatitis c virus, susceptibility to3 tests
Hepatocellular carcinoma1 test
Hereditary Nephrotic Syndromes, Autosomal Dominant2 tests
Hereditary Paraganglioma-Pheochromocytoma Syndromes7 tests
Hereditary breast and ovarian cancer syndrome11 tests
Hereditary cancer-predisposing syndrome6 tests
Hereditary coproporphyria1 test
Hereditary cutaneous melanoma4 tests
Hereditary diffuse gastric cancer8 tests
Hereditary disease1 test
Hereditary fructosuria1 test
Hereditary hearing loss and deafness3 tests
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary hemorrhagic telangiectasia type 22 tests
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary mixed polyposis syndrome 27 tests
Hereditary multiple osteochondromas2 tests
Hereditary myopathy with early respiratory failure3 tests
Hereditary nephrotic syndrome2 tests
Hereditary neutrophilia2 tests
Hereditary nonpolyposis colorectal cancer type 47 tests
Hereditary nonpolyposis colorectal cancer type 57 tests
Hereditary nonpolyposis colorectal cancer type 89 tests
Hereditary ovarian carcinoma6 tests
Hereditary pancreatitis1 test
Hereditary sensory and autonomic neuropathy type IC2 tests
Hereditary sensory and autonomic neuropathy type II3 tests
Hereditary sensory and autonomic neuropathy type IIA3 tests
Hereditary sensory and autonomic neuropathy type IIB2 tests
Hereditary sensory and autonomic neuropathy type IIC2 tests
Hereditary sensory neuropathy type 1D2 tests
Hereditary sensory neuropathy type IE2 tests
Hereditary sensory neuropathy type IF2 tests
Hereditary spastic paraplegia4 tests
Hereditary thrombophilia1 test
Hermansky Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome3 tests
Hermansky-Pudlak syndrome 93 tests
Herpes simplex encephalitis 12 tests
Herpes simplex encephalitis, susceptibility to, 32 tests
Herpes simplex encephalitis, susceptibility to, 42 tests
Heterotaxy, visceral, 4, autosomal2 tests
Heterotaxy, visceral, 6, autosomal1 test
Heterotaxy, visceral, X-linked2 tests
Histiocytic medullary reticulosis6 tests
Histiocytosis-lymphadenopathy plus syndrome2 tests
Holocarboxylase synthetase deficiency5 tests
Holoprosencephaly 21 test
Holoprosencephaly 32 tests
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 91 test
Holoprosencephaly sequence4 tests
Holt-Oram syndrome3 tests
Homocysteinemia due to MTHFR deficiency2 tests
Homocystinuria due to CBS deficiency4 tests
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type3 tests
Hoyeraal Hreidarsson syndrome3 tests
Human immunodeficiency virus type 1, susceptibility to5 tests
Huntington disease-like 12 tests
Hydrolethalus syndrome 22 tests
Hyperammonemia, type III4 tests
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, autosomal recessive1 test
Hyperekplexia4 tests
Hyperekplexia 22 tests
Hyperekplexia 32 tests
Hyperekplexia hereditary4 tests
Hyperferritinemia cataract syndrome1 test
Hyperimmunoglobulin D with periodic fever5 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive6 tests
Hyperimmunoglobulin E syndrome6 tests
Hyperimmunoglobulin M syndrome1 test
Hyperinsulinemic hypoglycemia, familial, 43 tests
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperkalemic Periodic Paralysis Type 12 tests
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency2 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3 tests
Hyperparathyroidism2 tests
Hyperparathyroidism 13 tests
Hyperphenylalaninemia, BH4-deficient, D5 tests
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency3 tests
Hyperphosphatasia with mental retardation syndrome 22 tests
Hyperphosphatasia-intellectual disability syndrome2 tests
Hyperprolinemia3 tests
Hypocalcemia, autosomal dominant 11 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypochondroplasia1 test
Hypoglycemia with deficiency of glycogen synthetase in the liver2 tests
Hypoglycemia, neonatal, simulating foetopathia diabetica1 test
Hypogonadism with anosmia1 test
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypohidrotic ectodermal dysplasia1 test
Hypokalemic periodic paralysis2 tests
Hypokalemic periodic paralysis 12 tests
Hypokalemic periodic paralysis, type 22 tests
Hypomyelination and Congenital Cataract1 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic left heart syndrome 12 tests
Hypoplastic left heart syndrome 22 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration2 tests
Hypoproteinemia, hypercatabolic3 tests
Hypospadias 1, X-linked1 test
I cell disease2 tests
IL21R immunodeficiency5 tests
IRAK4 deficiency2 tests
IVIC syndrome1 test
Idiopathic fibrosing alveolitis, chronic form2 tests
Idiopathic generalized epilepsy2 tests
Idiopathic growth hormone deficiency5 tests
Idiopathic livedo reticularis with systemic involvement4 tests
Ige responsiveness, atopic8 tests
Immune dysfunction with T-cell inactivation due to calcium entry defect 13 tests
Immune dysfunction with T-cell inactivation due to calcium entry defect 24 tests
Immunodeficiency 113 tests
Immunodeficiency 123 tests
Immunodeficiency 145 tests
Immunodeficiency 153 tests
Immunodeficiency 163 tests
Immunodeficiency 174 tests
Immunodeficiency 184 tests
Immunodeficiency 194 tests
Immunodeficiency 223 tests
Immunodeficiency 233 tests
Immunodeficiency 243 tests
Immunodeficiency 26 with or without neurologic abnormalities5 tests
Immunodeficiency 27b2 tests
Immunodeficiency 282 tests
Immunodeficiency 292 tests
Immunodeficiency 302 tests
Immunodeficiency 31C4 tests
Immunodeficiency 31a4 tests
Immunodeficiency 32a2 tests
Immunodeficiency 32b2 tests
Immunodeficiency 365 tests
Immunodeficiency 373 tests
Immunodeficiency 38 with basal ganglia calcification2 tests
Immunodeficiency 391 test
Immunodeficiency 403 tests
Immunodeficiency 421 test
Immunodeficiency 442 tests
Immunodeficiency 512 tests
Immunodeficiency 84 tests
Immunodeficiency due to defect in CD3-gamma4 tests
Immunodeficiency due to defect in cd3-zeta4 tests
Immunodeficiency due to defect in mapbp-interacting protein2 tests
Immunodeficiency with hyper IgM type 16 tests
Immunodeficiency with hyper IgM type 24 tests
Immunodeficiency with hyper IgM type 53 tests
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia6 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 23 tests
Immunoglobulin A deficiency 23 tests
Inclusion body myopathy 25 tests
Inclusion body myopathy 32 tests
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia7 tests
Indifference to pain, congenital, autosomal recessive1 test
Infantile GM1 gangliosidosis2 tests
Infantile Parkinsonism-dystonia3 tests
Infantile Refsum's disease1 test
Infantile cortical hyperostosis1 test
Infantile nephronophthisis4 tests
Infantile neuroaxonal dystrophy1 test
Infantile neuronal ceroid lipofuscinosis2 tests
Infantile-onset ascending hereditary spastic paralysis4 tests
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations2 tests
Inflammatory bowel disease 14 tests
Inflammatory bowel disease 25, autosomal recessive4 tests
Inflammatory bowel disease 28, autosomal recessive4 tests
Inflammatory skin and bowel disease, neonatal 13 tests
Inosine triphosphatase deficiency1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3 tests
Interleukin 2 receptor, alpha, deficiency of4 tests
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked1 test
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1 test
Intrinsic factor deficiency2 tests
Invasive pneumococcal disease, recurrent isolated, 12 tests
Irido-corneo-trabecular dysgenesis4 tests
Iridogoniodysgenesis, dominant type2 tests
Isolated Nonsyndromic Congenital Heart Disease/Defects2 tests
Isolated coronal synostosis2 tests
Isovaleryl-CoA dehydrogenase deficiency4 tests
Jackson-Weiss syndrome1 test
Jakob-Creutzfeldt disease2 tests
Jankovic Rivera syndrome2 tests
Jervell and Lange-Nielsen syndrome3 tests
Jervell and Lange-Nielsen syndrome 23 tests
Jeune thoracic dystrophy3 tests
Joubert syndrome4 tests
Joubert syndrome 12 tests
Joubert syndrome 104 tests
Joubert syndrome 133 tests
Joubert syndrome 143 tests
Joubert syndrome 152 tests
Joubert syndrome 162 tests
Joubert syndrome 172 tests
Joubert syndrome 182 tests
Joubert syndrome 23 tests
Joubert syndrome 202 tests
Joubert syndrome 213 tests
Joubert syndrome 222 tests
Joubert syndrome 232 tests
Joubert syndrome 252 tests
Joubert syndrome 33 tests
Joubert syndrome 42 tests
Joubert syndrome 53 tests
Joubert syndrome 62 tests
Joubert syndrome 72 tests
Joubert syndrome 82 tests
Joubert syndrome 93 tests
Juvenile amyotrophic lateral sclerosis2 tests
Juvenile hemochromatosis1 test
Juvenile myelomonocytic leukemia4 tests
Juvenile myoclonic epilepsy2 tests
Juvenile nephropathic cystinosis2 tests
Juvenile neuronal ceroid lipofuscinosis3 tests
Juvenile polyposis syndrome7 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome8 tests
Juvenile primary lateral sclerosis2 tests
Juvenile-onset dystonia1 test
KBG syndrome1 test
KCNQ2-Related Disorders2 tests
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kallmann syndrome 11 test
Kallmann syndrome 21 test
Kallmann syndrome 52 tests
Kanzaki disease2 tests
Kartagener syndrome3 tests
Keratitis, hereditary3 tests
Klippel Feil syndrome2 tests
Klippel-Feil syndrome 1, autosomal dominant2 tests
Kohlschutter's syndrome1 test
Koolen-de Vries syndrome2 tests
Krabbe disease atypical due to Saposin A deficiency3 tests
Kugelberg-Welander disease3 tests
Kuru, susceptibility to2 tests
L-2-hydroxyglutaric aciduria2 tests
L-ferritin deficiency1 test
LEOPARD syndrome 14 tests
LEOPARD syndrome 24 tests
LEOPARD syndrome 34 tests
Lafora disease1 test
Lambdoidal craniosynostosis1 test
Lamellar cataract1 test
Laminin alpha 2-related dystrophy4 tests
Langer-Giedion syndrome1 test
Leber congenital amaurosis2 tests
Leber congenital amaurosis 11 test
Leber congenital amaurosis 102 tests
Leber congenital amaurosis 121 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 172 tests
Leber congenital amaurosis 21 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
Leber congenital amaurosis 91 test
Left ventricular noncompaction1 test
Left ventricular noncompaction 104 tests
Left ventricular noncompaction 64 tests
Legius syndrome3 tests
Leigh syndrome8 tests
Lenz microphthalmia syndrome3 tests
Lesch-Nyhan syndrome3 tests
Leukocyte adhesion deficiency type 13 tests
Leukocyte adhesion deficiency, type III2 tests
Levy-Hollister syndrome1 test
Lewy body dementia2 tests
Li-Fraumeni syndrome18 tests
Li-Fraumeni syndrome 122 tests
Li-Fraumeni syndrome 27 tests
Lig4 syndrome6 tests
Limb-girdle muscular dystrophy5 tests
Limb-girdle muscular dystrophy, type 1A4 tests
Limb-girdle muscular dystrophy, type 1B5 tests
Limb-girdle muscular dystrophy, type 1C4 tests
Limb-girdle muscular dystrophy, type 1E4 tests
Limb-girdle muscular dystrophy, type 2A5 tests
Limb-girdle muscular dystrophy, type 2B4 tests
Limb-girdle muscular dystrophy, type 2D4 tests
Limb-girdle muscular dystrophy, type 2E4 tests
Limb-girdle muscular dystrophy, type 2F4 tests
Limb-girdle muscular dystrophy, type 2J4 tests
Limb-girdle muscular dystrophy, type 2L4 tests
Limb-girdle muscular dystrophy, type 2Q4 tests
Limb-girdle muscular dystrophy, type 2S4 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C15 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C25 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C35 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C45 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C55 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C95 tests
Limb-mammary syndrome1 test
Lissencephaly 2, X-linked2 tests
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
Long QT syndrome3 tests
Long QT syndrome 13 tests
Long QT syndrome 143 tests
Long QT syndrome 153 tests
Long QT syndrome 23 tests
Long QT syndrome 33 tests
Long QT syndrome 53 tests
Long QT syndrome 63 tests
Long QT syndrome 93 tests
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency3 tests
Lowe syndrome1 test
Lung cancer2 tests
Luscan-lumish syndrome1 test
Lymphedema, primary, with myelodysplasia7 tests
Lymphoproliferative syndrome 15 tests
Lymphoproliferative syndrome 1, X-linked4 tests
Lymphoproliferative syndrome 26 tests
Lymphoproliferative syndrome 2, X-linked4 tests
Lynch syndrome17 tests
Lynch syndrome I15 tests
Lynch syndrome II17 tests
Lysinuric protein intolerance3 tests
Lysosomal acid lipase deficiency3 tests
METHYLCOBALAMIN DEFICIENCY, cblG TYPE3 tests
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE3 tests
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE2 tests
MORM syndrome1 test
MYH-associated polyposis5 tests
Macrocephalus1 test
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies2 tests
Macrocephaly/autism syndrome1 test
Macular degeneration, X-linked atrophic2 tests
Macular dystrophy, vitelliform, adult-onset1 test
Majeed syndrome3 tests
Malignant hyperthermia1 test
Malignant hyperthermia susceptibility4 tests
Malignant hyperthermia susceptibility type 53 tests
Malignant hyperthermia, susceptibility to, 13 tests
Malignant melanoma of skin2 tests
Malignant rhabdoid tumor, somatic1 test
Malignant tumor of prostate1 test
Malignant tumor of testis3 tests
Mammalian Susceptibility to Mycobacterial Disease1 test
Maple syrup urine disease5 tests
Maple syrup urine disease type 1B5 tests
Maple syrup urine disease, mild variant5 tests
Maple syrup urine disease, type 35 tests
Marfan syndrome2 tests
Marinesco-Sjögren syndrome1 test
Marshall-Smith syndrome1 test
Mast syndrome2 tests
McKusick Kaufman syndrome1 test
Meacham syndrome4 tests
Meckel syndrome type 13 tests
Meckel syndrome type 23 tests
Meckel syndrome type 32 tests
Meckel syndrome type 43 tests
Meckel syndrome type 51 test
Meckel syndrome type 63 tests
Meckel syndrome type 74 tests
Meckel syndrome type 82 tests
Meckel syndrome, type 102 tests
Meckel syndrome, type 112 tests
Meckel syndrome, type 92 tests
Meckel-Gruber syndrome5 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
Medulloblastoma4 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
Megaloblastic anemia due to inborn errors of metabolism2 tests
Melanoma astrocytoma syndrome4 tests
Melanoma, cutaneous malignant, susceptibility to, 102 tests
Melanoma-pancreatic cancer syndrome5 tests
Melnick-Fraser syndrome1 test
Melnick-Needles syndrome1 test
Membranous cataract1 test
Meningioma, familial4 tests
Menkes kinky-hair syndrome4 tests
Mental retardation 3, X-linked2 tests
Mental retardation and microcephaly with pontine and cerebellar hypoplasia2 tests
Mental retardation, X-linked 12 tests
Mental retardation, X-linked 981 test
Mental retardation, X-linked, syndromic 101 test
Mental retardation, X-linked, syndromic, Raymond type1 test
Mental retardation, autosomal dominant 12 tests
Mental retardation, autosomal dominant 21 test
Mental retardation, autosomal dominant 312 tests
Mental retardation, autosomal dominant 382 tests
Mental retardation, autosomal dominant 72 tests
Mental retardation, autosomal recessive 151 test
Mental retardation, autosomal recessive 411 test
Mental retardation, autosomal recessive 71 test
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1 test
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations2 tests
Mental retardation, syndromic, Claes-Jensen type, X-linked2 tests
Mental retardation, with or without seizures, ARX-related, X-linked2 tests
Mental retardation-hypotonic facies syndrome X-linked, 13 tests
Merosin deficient congenital muscular dystrophy4 tests
Mesothelioma, malignant7 tests
Metabolic disease1 test
Metabolic myopathy5 tests
Metachromatic leukodystrophy3 tests
Metaphyseal chondrodysplasia, McKusick type3 tests
Metaphyseal dysplasia without hypotrichosis3 tests
Methylcrotonyl-CoA carboxylase deficiency5 tests
Methylmalonic acidemia6 tests
Methylmalonic acidemia with homocystinuria5 tests
Methylmalonic acidemia with homocystinuria cblD6 tests
Methylmalonic aciduria cblA type5 tests
Methylmalonic aciduria cblB type5 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5 tests
Methylmalonic aciduria due to transcobalamin receptor defect2 tests
Methylmalonyl-CoA epimerase deficiency3 tests
Mevalonic aciduria5 tests
Microcephaly, epilepsy, and diabetes syndrome2 tests
Microcephaly, normal intelligence and immunodeficiency6 tests
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1 test
Microphthalmia syndromic 31 test
Microphthalmia syndromic 52 tests
Microphthalmia syndromic 61 test
Microphthalmia syndromic 91 test
Microphthalmia, isolated 22 tests
Microphthalmia, isolated 31 test
Microphthalmia, isolated 42 tests
Microphthalmia, isolated 51 test
Microphthalmia, isolated 61 test
Microphthalmia, isolated 81 test
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, isolated, with coloboma 51 test
Microphthalmia, isolated, with coloboma 62 tests
Microvascular complications of diabetes 42 tests
Migraine1 test
Minicore myopathy1 test
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 4B, MNGIE type1 test
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)3 tests
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)3 tests
Mitochondrial diseases1 test
Mitochondrial pyruvate carrier deficiency1 test
Mitochondrial trifunctional protein deficiency3 tests
Miyoshi muscular dystrophy 14 tests
Molybdenum cofactor deficiency, complementation group A2 tests
Molybdenum cofactor deficiency, complementation group C3 tests
Monoamine oxidase A deficiency1 test
Morquio syndrome3 tests
Mowat-Wilson syndrome2 tests
Mucolipidosis III Gamma2 tests
Mucolipidosis type IV2 tests
Mucopolysaccharidosis1 test
Mucopolysaccharidosis type I6 tests
Mucopolysaccharidosis type VI2 tests
Mucopolysaccharidosis type VII3 tests
Mucopolysaccharidosis, MPS-I-H/S6 tests
Mucopolysaccharidosis, MPS-I-S6 tests
Mucopolysaccharidosis, MPS-II5 tests
Mucopolysaccharidosis, MPS-III-A4 tests
Mucopolysaccharidosis, MPS-III-B3 tests
Mucopolysaccharidosis, MPS-III-C3 tests
Mucopolysaccharidosis, MPS-III-D3 tests
Mucopolysaccharidosis, MPS-IV-A3 tests
Mucopolysaccharidosis, MPS-IV-B3 tests
Muenke syndrome2 tests
Muir-Torré syndrome14 tests
Multiminicore Disease3 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 12 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
Multiple congenital exostosis2 tests
Multiple cutaneous leiomyomas1 test
Multiple endocrine neoplasia2 tests
Multiple endocrine neoplasia, type 19 tests
Multiple endocrine neoplasia, type 25 tests
Multiple endocrine neoplasia, type 2a5 tests
Multiple endocrine neoplasia, type 2b5 tests
Multiple endocrine neoplasia, type 42 tests
Multiple exostoses type 21 test
Multiple fibrofolliculomas1 test
Multiple gastrointestinal atresias3 tests
Multiple mitochondrial dysfunctions syndrome 12 tests
Multiple myeloma2 tests
Multiple sclerosis, susceptibility to, 51 test
Multiple sulfatase deficiency3 tests
Muscle AMP deaminase deficiency1 test
Muscular Diseases5 tests
Muscular dystrophy5 tests
Muscular dystrophy, congenital, due to ITGA7 deficiency4 tests
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency4 tests
Muscular dystrophy, congenital, megaconial type4 tests
Muscular dystrophy-dystroglycanopathy5 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 141 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91 test
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 141 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 125 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 141 test
Myasthenia, limb-girdle, familial2 tests
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency2 tests
Myasthenic syndrome, congenital, 142 tests
Myasthenic syndrome, congenital, 221 test
Myasthenic syndrome, congenital, 2a, slow-channel2 tests
Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency2 tests
Myasthenic syndrome, congenital, 3a, slow-channel2 tests
Myasthenic syndrome, congenital, 3b, fast-channel2 tests
Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency2 tests
Myasthenic syndrome, congenital, 4b, fast-channel2 tests
Myasthenic syndrome, congenital, 82 tests
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency2 tests
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency4 tests
Myasthenic syndrome, slow-channel congenital2 tests
Mycobacterial and viral infections, susceptibility to, autosomal recessive4 tests
Mycobacterium tuberculosis, susceptibility to3 tests
Myd88 deficiency2 tests
Myelodysplastic syndrome7 tests