GeneReviews

General information

GeneReviews (Organization ID: 500062)

Personnel

  • Director: Roberta Pagon

Summary of submissions to ClinVar

Total submissions: 4000

Gene

GeneSubmissionsLast Updated
ABCB75Apr 29, 2015
ABCC813Apr 29, 2015
ACADS3Apr 29, 2015
ACADVL14Apr 29, 2015
ACTA17Apr 29, 2015
ADAMTSL25Apr 29, 2015
ADAR2Apr 29, 2015
AFG3L212Apr 29, 2015
AGL9Apr 29, 2015
AGXT13Apr 29, 2015
AIP68Apr 29, 2015
AIPL17Apr 29, 2015
AKT11Apr 29, 2015
ALAS23Apr 29, 2015
ALK8Apr 29, 2015
ALS217Apr 29, 2015
ALX41Apr 29, 2015
AMT3Apr 29, 2015
ANO57Apr 29, 2015
AP3B15Apr 29, 2015
APC4Apr 30, 2015
APP4Apr 29, 2015
APRT7Apr 29, 2015
AR4Apr 29, 2015
ARSA15Apr 29, 2015
ARSE6Apr 29, 2015
ASL3Apr 29, 2015
ASPM103Apr 29, 2015
ATL112Apr 29, 2015
ATN14Apr 29, 2015
ATP1A351Apr 29, 2015
ATP6V0A211Apr 29, 2015
ATP7B2Apr 29, 2015
ATP8B15Apr 29, 2015
ATRX1Apr 29, 2015
ATXN106Apr 29, 2015
ATXN22Apr 29, 2015
B3GALTL3Apr 29, 2015
BAAT2Apr 29, 2015
BAG31Apr 29, 2015
BBIP11Apr 29, 2015
BBS13Apr 29, 2015
BBS415Apr 29, 2015
BCKDHA1Apr 29, 2015
BCKDHB3Apr 29, 2015
BCOR1Apr 29, 2015
BLM34Apr 29, 2015
BLOC1S31Apr 29, 2015
BRAF2Apr 29, 2015
BRCA12Apr 29, 2015
BRCA22Apr 29, 2015
BTD5Apr 29, 2015
C10orf25Apr 29, 2015
C15orf412Apr 29, 2015
C19orf124Apr 29, 2015
C5orf426Apr 29, 2015
CACNA1C4Apr 29, 2015
CACNA1C-AS12Apr 29, 2015
CACNA1F1Apr 29, 2015
CACNA1S7Apr 29, 2015
CACNB21Apr 29, 2015
CALM12Apr 29, 2015
CAPN35Apr 29, 2015
CASP103Apr 29, 2015
CASQ23Apr 29, 2015
CATSPER12Apr 29, 2015
CCDC1071Apr 29, 2015
CCDC394Apr 29, 2015
CCDC402Apr 29, 2015
CDAN110Apr 29, 2015
CDC737Apr 29, 2015
CDK5RAP218Apr 29, 2015
CDKN1C5Apr 29, 2015
CEBPA9Apr 29, 2015
CENPJ11Apr 29, 2015
CEP2902Apr 29, 2015
CFH2Apr 29, 2015
CFI1Apr 29, 2015
CFL21Apr 29, 2015
CFTR9Apr 29, 2015
CHMP2B7Apr 29, 2015
CHRNA21Apr 29, 2015
CHRNA45Apr 29, 2015
CHRNB27Apr 29, 2015
CIB21Apr 29, 2015
CLCF14Apr 29, 2015
CLCN124Apr 29, 2015
CLCN59Apr 29, 2015
CLCN74Apr 29, 2015
CLN32Apr 29, 2015
CLN52Apr 29, 2015
CLN63Apr 29, 2015
CLN81Apr 29, 2015
CNGB32Apr 29, 2015
COL1A11Apr 29, 2015
COL2A12Apr 29, 2015
COL4A111Apr 29, 2015
COL4A53Apr 29, 2015
COL5A12Apr 29, 2015
COL9A11Apr 29, 2015
COL9A21Apr 29, 2015
COMP22Apr 29, 2015
CP42Apr 29, 2015
CPT1A33Apr 29, 2015
CRB11Apr 29, 2015
CRLF112Apr 29, 2015
CRX1Apr 29, 2015
CRYAB3Apr 29, 2015
CSF1R43Apr 29, 2015
CTDP11Apr 29, 2015
CTNS9Apr 29, 2015
CTRC5Apr 29, 2015
CYP21A217Apr 29, 2015
CYP27A169Apr 29, 2015
CYP4V233Apr 29, 2015
DARS23Apr 29, 2015
DCN3Apr 29, 2015
DCTN16Apr 29, 2015
DES1Apr 29, 2015
DHCR712Apr 29, 2015
DKC138Apr 29, 2015
DLL34Apr 29, 2015
DMPK3Apr 29, 2015
DNAAF13Apr 29, 2015
DNAAF22Apr 29, 2015
DNAAF33Apr 29, 2015
DNAAF51Apr 29, 2015
DNAH113Apr 29, 2015
DNAH52Apr 29, 2015
DNAI13Apr 29, 2015
DNAI23Apr 29, 2015
DNAL11Apr 29, 2015
DTNBP11Apr 29, 2015
EDARADD3Apr 29, 2015
EFEMP211Apr 29, 2015
EGR28Apr 29, 2015
EHMT121Apr 29, 2015
EPB428Apr 29, 2015
ESCO227Apr 29, 2015
EZH22Apr 29, 2015
F23Apr 29, 2015
F84Apr 29, 2015
F92Apr 29, 2015
FAH9Apr 29, 2015
FAM126A4Apr 29, 2015
FAM134B6Apr 29, 2015
FANCA2Apr 29, 2015
FANCC6Apr 29, 2015
FANCG5Apr 29, 2015
FASLG2Apr 29, 2015
FBLN55Apr 29, 2015
FECH1Apr 29, 2015
FGD46Apr 29, 2015
FGF312Apr 29, 2015
FGFR334Apr 29, 2015
FH2Apr 29, 2015
FIG41Apr 29, 2015
FLCN3Apr 29, 2015
FLNA7Apr 29, 2015
FLNB29Apr 29, 2015
FMO35Apr 29, 2015
G6PC11Apr 29, 2015
GAA5Apr 29, 2015
GALE9Apr 29, 2015
GALNS2Apr 29, 2015
GALT11Apr 29, 2015
GAMT6Apr 29, 2015
GATA112Apr 29, 2015
GATM3Apr 29, 2015
GBA20Apr 29, 2015
GBE113Apr 29, 2015
GCK6Apr 29, 2015
GDAP14Apr 29, 2015
GJB114Apr 29, 2015
GJB215Apr 29, 2015
GLDC3Apr 29, 2015
GLI330Apr 29, 2015
GLRA122Apr 29, 2015
GLRB2Apr 29, 2015
GNAT21Apr 29, 2015
GNE6Apr 29, 2015
GNPTAB129Apr 29, 2015
GNPTG16Apr 29, 2015
GPD1L2Apr 29, 2015
GPHN1Apr 29, 2015
GRHPR4Apr 29, 2015
GRN1Apr 29, 2015
GUCY2D1Apr 29, 2015
HBB21Apr 29, 2015
HCCS3Apr 29, 2015
HEPACAM3Apr 29, 2015
HES71Apr 29, 2015
HGD12Apr 29, 2015
HPS127Apr 29, 2015
HPS36Apr 29, 2015
HPS410Apr 29, 2015
HPS57Apr 29, 2015
HPS61Apr 29, 2015
HPSE22Apr 29, 2015
HTRA112Apr 29, 2015
HTT2Apr 29, 2015
HYDIN2Apr 29, 2015
IFT1226Apr 29, 2015
IFT431Apr 29, 2015
INS18Apr 29, 2015
IQCG1Apr 29, 2015
IRAK12Apr 29, 2015
ITGB41Apr 29, 2015
ITPR11Apr 29, 2015
JUP3Apr 29, 2015
KANSL16Apr 29, 2015
KAT6B3Apr 29, 2015
KCNA19Apr 29, 2015
KCNJ1127Apr 29, 2015
KCNJ189Apr 29, 2015
KCNQ11Apr 29, 2015
KCNQ269Apr 29, 2015
KCNQ39Apr 29, 2015
KCNQ414Apr 29, 2015
KIAA01964Apr 29, 2015
KIF1A2Apr 29, 2015
KRT144Apr 29, 2015
KRT171Apr 29, 2015
KRT53Apr 29, 2015
KRT6A5Apr 29, 2015
LAMA25Apr 29, 2015
LAMA32Apr 29, 2015
LAMB34Apr 29, 2015
LAMC21Apr 29, 2015
LCA54Apr 29, 2015
LDB31Apr 29, 2015
LFNG1Apr 29, 2015
LITAF6Apr 29, 2015
LMNA10Apr 29, 2015
LOC1002870153Apr 29, 2015
LOC1027238332Apr 29, 2015
LPIN26Apr 29, 2015
LRP212Apr 29, 2015
LRRC65Apr 29, 2015
LRRK2127Apr 29, 2015
LYST30Apr 29, 2015
LZTFL12Apr 29, 2015
MAN2B15Apr 29, 2015
MATN34Apr 29, 2015
MCOLN11Apr 29, 2015
MCPH17Apr 29, 2015
MECP22Apr 29, 2015
MED123Apr 29, 2015
MED251Apr 29, 2015
MESP213Apr 29, 2015
MFSD82Apr 29, 2015
MIR15871Apr 29, 2015
MIR548F11Apr 29, 2015
MKKS6Apr 29, 2015
MLC19Apr 29, 2015
MPV1720Apr 29, 2015
MPZ20Apr 29, 2015
MSTN3Apr 29, 2015
MSX21Apr 29, 2015
MT-ATP610Apr 29, 2015
MT-CO33Apr 29, 2015
MT-CYB1Apr 29, 2015
MT-ND110Apr 29, 2015
MT-ND23Apr 29, 2015
MT-ND34Apr 29, 2015
MT-ND44Apr 29, 2015
MT-ND4L1Apr 29, 2015
MT-ND57Apr 29, 2015
MT-ND68Apr 29, 2015
MT-TK2Apr 29, 2015
MT-TL11Apr 29, 2015
MT-TV2Apr 29, 2015
MT-TW3Apr 29, 2015
MTMR21Apr 29, 2015
MUTYH3Apr 29, 2015
MYCN2Apr 29, 2015
MYH72Apr 29, 2015
MYH913Apr 29, 2015
MYOT1Apr 29, 2015
NAA101Apr 29, 2015
NCF11Apr 29, 2015
NDRG11Apr 29, 2015
NEB1Apr 29, 2015
NEFL7Apr 29, 2015
NHP23Apr 29, 2015
NME82Apr 29, 2015
NMNAT11Apr 29, 2015
NOP101Apr 29, 2015
NOTCH210Apr 29, 2015
NPC113Apr 29, 2015
NPC210Apr 29, 2015
NSDHL7Apr 29, 2015
NTRK17Apr 29, 2015
OFD1108Apr 29, 2015
OPA15Apr 29, 2015
OPA36Apr 29, 2015
OTOF92Apr 30, 2015
PAFAH1B18Apr 29, 2015
PARK24Apr 29, 2015
PAX23Apr 29, 2015
PC16Apr 29, 2015
PCCA6Apr 29, 2015
PCCB15Apr 29, 2015
PCDH152Apr 29, 2015
PDE6C1Apr 29, 2015
PDE6H1Apr 29, 2015
PDGFRB2Apr 29, 2015
PDX13Apr 29, 2015
PEX710Apr 29, 2015
PIK3CA5Apr 30, 2015
PLEC1Apr 29, 2015
PMM211Apr 29, 2015
PMP229Apr 29, 2015
PNPLA62Apr 29, 2015
POLG19Apr 29, 2015
POLR3A17Apr 29, 2015
POLR3B8Apr 29, 2015
PPOX2Apr 29, 2015
PPT12Apr 29, 2015
PRICKLE13Apr 29, 2015
PRKAR1A24Apr 29, 2015
PRKCG25Apr 29, 2015
PRNP22Apr 29, 2015
PRPS16Apr 29, 2015
PRRT23Apr 29, 2015
PRSS117Apr 29, 2015
PRX5Apr 29, 2015
PSEN113Apr 29, 2015
PSEN22Apr 29, 2015
PTPN1111Apr 29, 2015
PYGL19Apr 29, 2015
PYGM13Apr 29, 2015
RAF14Apr 29, 2015
RBM8A4Apr 29, 2015
RD31Apr 29, 2015
RDH121Apr 29, 2015
RMRP1Apr 29, 2015
RNASEH2A11Apr 29, 2015
RPGRIP12Apr 29, 2015
RPGRIP1L1Apr 29, 2015
RPL35A3Apr 29, 2015
RPS172Apr 29, 2015
RPS243Apr 29, 2015
RPS71Apr 29, 2015
RRM2B36Apr 29, 2015
RSPH4A3Apr 29, 2015
RSPH91Apr 29, 2015
RUNX23Apr 29, 2015
RYR183Apr 29, 2015
RYR24Apr 29, 2015
SACS4Apr 29, 2015
SAMHD121Apr 29, 2015
SBDS13Apr 29, 2015
SCN3B1Apr 29, 2015
SCN4A23Apr 29, 2015
SCN5A4Apr 29, 2015
SCN9A14Apr 29, 2015
SDHA3Apr 29, 2015
SDHAF21Apr 29, 2015
SDHD6Apr 29, 2015
SEPN11Apr 29, 2015
SEPT93Apr 29, 2015
SH3TC221Apr 29, 2015
SHH33Apr 29, 2015
SIX16Apr 29, 2015
SIX38Apr 29, 2015
SIX54Apr 29, 2015
SLC12A66Apr 29, 2015
SLC16A28Apr 29, 2015
SLC17A53Apr 29, 2015
SLC20A22Apr 29, 2015
SLC25A1316Apr 29, 2015
SLC25A1517Apr 29, 2015
SLC26A210Apr 29, 2015
SLC26A47Apr 29, 2015
SLC30A1011Apr 30, 2015
SLC37A44Apr 29, 2015
SLC46A116Apr 29, 2015
SLC6A510Apr 29, 2015
SLC6A84Apr 29, 2015
SLITRK12Apr 29, 2015
SMAD43Apr 29, 2015
SMS8Apr 29, 2015
SOX93Apr 29, 2015
SP1106Apr 29, 2015
SPATA74Apr 29, 2015
SPG11105Apr 29, 2015
SPINK17Apr 29, 2015
SPRED14Apr 29, 2015
SPTLC14Apr 29, 2015
SRCAP2Apr 29, 2015
STAT35Apr 29, 2015
STIL9Apr 29, 2015
SUCLA21Apr 29, 2015
TAF11Apr 29, 2015
TARDBP33Apr 29, 2015
TCTN11Apr 29, 2015
TEK2Apr 29, 2015
TERC9Apr 29, 2015
TERT38Apr 29, 2015
TFAP2B20Apr 29, 2015
TFR224Apr 29, 2015
TGIF13Apr 29, 2015
TH3Apr 29, 2015
TIMM8A3Apr 29, 2015
TINF217Apr 29, 2015
TK231Apr 29, 2015
TMEM2161Apr 29, 2015
TMEM2371Apr 29, 2015
TNNT11Apr 29, 2015
TOR1A4Apr 29, 2015
TP531Apr 29, 2015
TP635Apr 29, 2015
TPM21Apr 29, 2015
TPM312Apr 29, 2015
TPP12Apr 29, 2015
TREX117Apr 29, 2015
TSEN21Apr 29, 2015
TSEN341Apr 29, 2015
TSEN544Apr 29, 2015
TTBK23Apr 29, 2015
TTN19Apr 29, 2015
TTPA14Apr 29, 2015
TYR2Apr 29, 2015
UBA13Apr 29, 2015
UROS10Apr 29, 2015
USH1C3Apr 29, 2015
USH1G1Apr 29, 2015
USH2A3Apr 29, 2015
VCAN7Apr 29, 2015
VLDLR3Apr 29, 2015
WDR192Apr 29, 2015
WDR358Apr 29, 2015
WFS11Apr 29, 2015
WNK13Apr 29, 2015
WRAP534Apr 29, 2015
WRN7Apr 29, 2015
ZAP704Apr 29, 2015
ZIC26Apr 29, 2015

Condition

NameSubmissionsLast Updated
15q13.3 microdeletion syndrome1Jan 8, 2013
16p11.2 deletion syndrome1Mar 26, 2013
17q21.31 microdeletion syndrome7Mar 26, 2013
21-hydroxylase deficiency17Apr 30, 2013
3-Methylglutaconic aciduria type 33Jan 8, 2013
ADULT syndrome5Jan 8, 2013
AML - Acute myeloid leukemia9Jan 8, 2013
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib2Feb 20, 2014
ATR-X syndrome1Nov 6, 2014
Achromatopsia 32Apr 30, 2013
Achromatopsia 41Apr 30, 2013
Adenine phosphoribosyltransferase deficiency7Mar 26, 2013
Aicardi Goutieres syndrome 117Mar 13, 2014
Aicardi Goutieres syndrome 411Mar 13, 2014
Aicardi Goutieres syndrome 521Mar 13, 2014
Aicardi-goutieres syndrome 62Mar 13, 2014
Alagille syndrome 210Mar 26, 2013
Alkaptonuria12Apr 30, 2013
Allan-Herndon-Dudley syndrome8Mar 26, 2013
Alpha-B crystallinopathy3Jan 8, 2013
Alport syndrome, X-linked recessive3Mar 26, 2013
Alternating hemiplegia of childhood 236Nov 6, 2014
Alzheimer disease, type 312Jan 8, 2013
Alzheimer disease, type 44Mar 26, 2013
Alzheimer's disease4Mar 26, 2013
Amyotrophic lateral sclerosis type 1033Jan 8, 2013
Amyotrophic lateral sclerosis type 23Apr 30, 2013
Andermann syndrome6Jun 13, 2014
Androgen resistance syndrome4Sep 3, 2014
Anemia sideroblastic and spinocerebellar ataxia5Apr 4, 2014
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps3Jan 8, 2013
Aplastic anemia24Jan 8, 2013
Arginine:glycine amidinotransferase deficiency3Apr 30, 2013
Argininosuccinate lyase deficiency3Mar 26, 2013
Arrhythmogenic right ventricular cardiomyopathy, type 121Jan 8, 2013
Arthrogryposis multiplex congenita, distal, X-linked3Jan 8, 2013
Arts syndrome4Mar 26, 2013
Ataxia with vitamin E deficiency14Apr 30, 2013
Atelosteogenesis type 16Mar 26, 2013
Atelosteogenesis type 34Mar 26, 2013
Atrial myxoma, familial1Mar 26, 2013
Atypical hemolytic-uremic syndrome 15Jan 8, 2013
Atypical hemolytic-uremic syndrome 31Apr 30, 2013
Autoimmune lymphoproliferative syndrome2Sep 23, 2014
Autoimmune lymphoproliferative syndrome, type 23Sep 23, 2014
Autosomal dominant hypohidrotic ectodermal dysplasia1Apr 30, 2013
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11Jan 8, 2013
Autosomal recessive cutis laxa type IA16Jan 8, 2013
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome2Apr 30, 2013
Bardet-Biedl syndrome28Feb 20, 2014
Basal ganglia calcification, idiopathic, 42Apr 30, 2013
Benign familial neonatal seizures 172Mar 26, 2013
Benign familial neonatal seizures 29Jan 8, 2013
Benign scapuloperoneal muscular dystrophy with cardiomyopathy3Mar 26, 2013
Bietti crystalline corneoretinal dystrophy33Mar 26, 2013
Biotinidase deficiency5Jan 8, 2013
Bloom syndrome34Mar 26, 2013
Boucher Neuhauser syndrome1Jul 28, 2014
Brain small vessel disease with hemorrhage2Jan 8, 2013
Branchiootic syndrome 32Jan 8, 2013
Branchiootorenal syndrome 24Jan 8, 2013
Brugada syndrome 14Sep 9, 2014
Brugada syndrome 22Sep 9, 2014
Brugada syndrome 32Sep 9, 2014
Brugada syndrome 41Sep 9, 2014
Brugada syndrome 71Sep 9, 2014
CATSPER-Related Male Infertility2Jan 8, 2013
Camptomelic dysplasia3Jan 8, 2013
Carbohydrate-deficient glycoprotein syndrome type I11Jan 8, 2013
Cardiac valvular dysplasia, X-linked2Apr 30, 2013
Carney complex, type 122Mar 26, 2013
Carnitine palmitoyltransferase I deficiency34Apr 30, 2013
Catecholaminergic polymorphic ventricular tachycardia4Mar 26, 2013
Cd8 deficiency, familial2Jan 8, 2013
Central core disease76Apr 30, 2013
Cerebellar ataxia infantile with progressive external ophthalmoplegia2Jan 8, 2013
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss1Nov 6, 2014
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy12Sep 23, 2014
Ceroid lipofuscinosis neuronal 12Apr 30, 2013
Ceroid lipofuscinosis neuronal 52Apr 30, 2013
Ceroid lipofuscinosis neuronal 63Apr 30, 2013
Ceroid lipofuscinosis neuronal 72Apr 30, 2013
Ceroid lipofuscinosis, neuronal, 22Apr 30, 2013
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1Apr 30, 2013
Char syndrome20Apr 30, 2013
Charcot-Marie-Tooth disease type 2B11Apr 30, 2013
Charcot-Marie-Tooth disease type 2B21Apr 30, 2013
Charcot-Marie-Tooth disease type 2E4Apr 30, 2013
Charcot-Marie-Tooth disease type 2I1Jan 8, 2013
Charcot-Marie-Tooth disease type 2J1Jan 8, 2013
Charcot-Marie-Tooth disease type 2K1Nov 29, 2012
Charcot-Marie-Tooth disease, X-linked recessive, type 52Jan 8, 2013
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1Nov 29, 2012
Charcot-Marie-Tooth disease, type 4A2Mar 26, 2013
Charcot-Marie-Tooth disease, type 4B11Nov 29, 2012
Charcot-Marie-Tooth disease, type 4C21Mar 26, 2013
Charcot-Marie-Tooth disease, type 4D1Nov 29, 2012
Charcot-Marie-Tooth disease, type 4H6Nov 29, 2012
Charcot-Marie-Tooth disease, type 4J1Nov 29, 2012
Charcot-Marie-Tooth disease, type IA4Jan 8, 2013
Charcot-Marie-Tooth disease, type IB17Mar 26, 2013
Charcot-Marie-Tooth disease, type IC6Mar 26, 2013
Charcot-Marie-Tooth disease, type ID4Mar 26, 2013
Charcot-Marie-Tooth disease, type IE2Jan 8, 2013
Charcot-Marie-Tooth disease, type IF4Mar 26, 2013
Charcot-Marie-Tooth disease, type IVF5Nov 29, 2012
Child syndrome5Apr 30, 2013
Cholestanol storage disease69Apr 30, 2013
Chondrodysplasia punctata 1, X-linked recessive6Jan 8, 2013
Chromosome 9q deletion syndrome21Apr 30, 2013
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11Nov 29, 2012
Ch├ędiak-Higashi syndrome30Apr 30, 2013
Ciliary dyskinesia, primary, 102Apr 30, 2013
Ciliary dyskinesia, primary, 113Apr 30, 2013
Ciliary dyskinesia, primary, 121Apr 30, 2013
Ciliary dyskinesia, primary, 134Apr 30, 2013
Ciliary dyskinesia, primary, 144Apr 30, 2013
Ciliary dyskinesia, primary, 152Apr 30, 2013
Ciliary dyskinesia, primary, 161Apr 30, 2013
Ciliary dyskinesia, primary, 181Apr 30, 2013
Ciliary dyskinesia, primary, 195Apr 30, 2013
Ciliary dyskinesia, primary, 23Apr 30, 2013
Ciliary dyskinesia, primary, 32Apr 30, 2013
Ciliary dyskinesia, primary, 52Apr 30, 2013
Ciliary dyskinesia, primary, 62Apr 30, 2013
Ciliary dyskinesia, primary, 73Apr 30, 2013
Ciliary dyskinesia, primary, 93Apr 30, 2013
Citrullinemia type II6Jan 8, 2013
Cleidocranial dysostosis3Apr 30, 2013
Cold-induced sweating syndrome 112Mar 26, 2013
Cold-induced sweating syndrome 24Jan 8, 2013
Cone dystrophy 41Apr 30, 2013
Cone-rod dystrophy 132Apr 30, 2013
Congenital Cataracts, Facial Dysmorphism, and Neuropathy1Jan 8, 2013
Congenital Stromal Corneal Dystrophy3Apr 30, 2013
Congenital defect of folate absorption16Apr 30, 2013
Congenital dyserythropoietic anemia, type I10Jan 8, 2013
Congenital erythropoietic porphyria10Apr 30, 2013
Congenital hypomyelinating neuropathy3Jan 8, 2013
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi4Apr 30, 2013
Congenital myopathy with fiber type disproportion26Mar 26, 2013
Congenital stationary night blindness, type 2A1Mar 26, 2013
Cranioectodermal dysplasia 16Apr 30, 2013
Cranioectodermal dysplasia 28Apr 30, 2013
Cranioectodermal dysplasia 31Apr 30, 2013
Cranioectodermal dysplasia 42Apr 30, 2013
Craniosynostosis 21Jan 8, 2013
Creatine deficiency, X-linked4Apr 30, 2013
Cutis laxa with osteodystrophy11Apr 30, 2013
Cutis laxa, autosomal dominant1Jan 8, 2013
Cystinosis7Apr 30, 2013
Cystinosis, ocular nonnephropathic2Mar 26, 2013
DFNA 2 Nonsyndromic Hearing Loss17Apr 30, 2013
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)12Nov 29, 2012
Deafness, autosomal recessive 1A15Dec 2, 2013
Deafness, autosomal recessive 993Apr 30, 2013
Deafness, sensorineural, and male infertility1Mar 26, 2013
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase11Apr 4, 2014
Deficiency of alpha-mannosidase5Jan 8, 2013
Deficiency of butyryl-CoA dehydrogenase3Aug 13, 2014
Deficiency of ferroxidase42Apr 30, 2013
Deficiency of guanidinoacetate methyltransferase6Mar 26, 2013
Dejerine-Sottas disease2Jan 8, 2013
Dent disease 18Mar 26, 2013
Dentatorubral pallidoluysian atrophy4Jan 8, 2013
Diamond-Blackfan anemia 33Apr 30, 2013
Diamond-Blackfan anemia 42Apr 30, 2013
Diamond-Blackfan anemia 53Apr 30, 2013
Diamond-Blackfan anemia 81Apr 30, 2013
Diastrophic dysplasia10Apr 30, 2013
Dilated cardiomyopathy 1A6Apr 30, 2013
Distal hereditary motor neuronopathy type 7B1Jan 8, 2013
Distal myopathy Markesbery-Griggs type8Apr 30, 2013
Dominant hereditary optic atrophy4Apr 30, 2013
Donnai Barrow syndrome12Jan 8, 2013
Dysequilibrium syndrome3Jan 8, 2013
Dyskeratosis congenita X-linked36Jan 8, 2013
Dyskeratosis congenita autosomal dominant49Mar 26, 2013
Dyskeratosis congenita autosomal recessive 16Jan 8, 2013
Dyskeratosis congenita, autosomal recessive, 34Mar 26, 2013
Dystonia 14Jan 8, 2013
Dystonia 103Apr 30, 2013
Dystonia 1215Nov 6, 2014
Dystonia 3, torsion, X-linked1Jan 8, 2013
Ehlers-Danlos syndrome, classic type2Jan 8, 2013
Enlarged vestibular aqueduct syndrome3Jun 3, 2014
Epidermolysis bullosa herpetiformis, Dowling-Meara5Mar 26, 2013
Epidermolysis bullosa simplex with migratory circinate erythema1Apr 30, 2013
Epidermolysis bullosa simplex with mottled pigmentation1Mar 26, 2013
Epidermolysis bullosa simplex, Ogna type1Apr 30, 2013
Epidermolysis bullosa with pyloric atresia1Jan 8, 2013
Epilepsy, nocturnal frontal lobe, type 15Mar 26, 2013
Epilepsy, nocturnal frontal lobe, type 37Mar 26, 2013
Epilepsy, nocturnal frontal lobe, type 41Jan 8, 2013
Episodic ataxia type 19Jan 8, 2013
Erythropoietic protoporphyria1Nov 29, 2012
FG syndrome2Apr 30, 2013
FLNB-Related Disorders2Jan 8, 2013
Familial adenomatous polyposis 14Jan 8, 2013
Familial aplasia of the vermis2Mar 26, 2013
Familial cancer of breast4Apr 30, 2013
Familial porencephaly6Jan 8, 2013
Fanconi anemia, complementation group A2Mar 26, 2013
Fanconi anemia, complementation group C6Mar 26, 2013
Fanconi anemia, complementation group G5Mar 26, 2013
Feingold syndrome 12Apr 30, 2013
Floating-Harbor syndrome2Jan 8, 2013
Frontotemporal Dementia, Chromosome 3-Linked7Apr 30, 2013
Frontotemporal dementia, ubiquitin-positive1Jan 8, 2013
Fumarase deficiency2Mar 26, 2013
GATA-1-related thrombocytopenia with dyserythropoiesis10Oct 1, 2014
Gaucher disease20Oct 6, 2013
Geleophysic dysplasia5Jan 8, 2013
Genetic prion diseases22Apr 30, 2013
Genitopatellar syndrome1Jan 8, 2013
Glucose-6-phosphate transport defect15Jan 8, 2013
Glycogen storage disease type III9Jan 8, 2013
Glycogen storage disease, type II5Apr 30, 2013
Glycogen storage disease, type IV15Apr 30, 2013
Glycogen storage disease, type V13Jul 9, 2014
Glycogen storage disease, type VI19Mar 26, 2013
Hemochromatosis type 324Jan 8, 2013
Hepatic venoocclusive disease with immunodeficiency6Apr 30, 2013
Hereditary Paraganglioma-Pheochromocytoma Syndromes6Jan 8, 2013
Hereditary diffuse leukoencephalopathy with spheroids43Dec 18, 2014
Hereditary factor IX deficiency disease2Jun 5, 2014
Hereditary factor VIII deficiency disease4Mar 26, 2013
Hereditary insensitivity to pain with anhidrosis8Apr 30, 2013
Hereditary liability to pressure palsies2Apr 30, 2013
Hereditary myopathy with early respiratory failure9May 29, 2014
Hereditary neuralgic amyotrophy3Jan 8, 2013
Hereditary pancreatitis38May 29, 2014
Hereditary sensory and autonomic neuropathy type IIA11Apr 30, 2013
Hermansky Pudlak syndrome 25Jan 8, 2013
Hermansky-Pudlak syndrome 127Mar 26, 2013
Hermansky-Pudlak syndrome 37Jan 8, 2013
Hermansky-Pudlak syndrome 410Jan 8, 2013
Hermansky-Pudlak syndrome 57Jan 8, 2013
Hermansky-Pudlak syndrome 62Mar 26, 2013
Hermansky-Pudlak syndrome 71Jan 8, 2013
Hermansky-Pudlak syndrome 81Jan 8, 2013
Holoprosencephaly 28Apr 30, 2013
Holoprosencephaly 333Apr 30, 2013
Holoprosencephaly 43Apr 30, 2013
Holoprosencephaly 57Apr 30, 2013
Hoyeraal Hreidarsson syndrome2Jan 8, 2013
Huntington's chorea4Jan 8, 2013
Hyperekplexia 22Apr 30, 2013
Hyperekplexia 310Apr 30, 2013
Hyperekplexia hereditary23Apr 30, 2013
Hyperimmunoglobulin E syndrome5Jan 8, 2013
Hyperkalemic Periodic Paralysis Type 110Jan 8, 2013
Hypermanganesemia with dystonia, polycythemia and cirrhosis11Nov 29, 2012
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome17Nov 29, 2012
Hypochondroplasia20Apr 30, 2013
Hypokalemic periodic paralysis 117Aug 7, 2014
Hypokalemic periodic paralysis, type 23Aug 7, 2014
Hypomyelinating leukodystrophy 717Mar 26, 2013
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism8Jan 8, 2013
Hypomyelination and Congenital Cataract5Mar 26, 2013
I cell disease93Apr 30, 2013
Idiopathic basal ganglia calcification 12Apr 30, 2013
Idiopathic fibrosing alveolitis, chronic form13Jan 8, 2013
Inclusion body myopathy 21Mar 26, 2013
Infantile cortical hyperostosis1Nov 29, 2012
Infantile-onset ascending hereditary spastic paralysis10Apr 30, 2013
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked1Mar 26, 2013
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies5May 29, 2014
Jarcho-Levin syndrome4Apr 30, 2013
Jervell and Lange-Nielsen syndrome1Nov 20, 2014
Joubert syndrome 131Mar 26, 2013
Joubert syndrome 176Mar 26, 2013
Joubert syndrome 21Mar 26, 2013
Junctional epidermolysis bullosa gravis of Herlitz7Apr 30, 2013
Juvenile neuronal ceroid lipofuscinosis2Apr 30, 2013
Juvenile polyposis syndrome3Jan 8, 2013
Juvenile primary lateral sclerosis4Apr 30, 2013
Kartagener syndrome3Apr 30, 2013
Kennedy disease)1Sep 3, 2014
LEOPARD syndrome6Apr 30, 2013
LEOPARD syndrome 19Apr 30, 2013
Larsen syndrome, dominant type12Mar 26, 2013
Leber congenital amaurosis 11Apr 30, 2013
Leber congenital amaurosis 102Apr 30, 2013
Leber congenital amaurosis 121Apr 30, 2013
Leber congenital amaurosis 131Apr 30, 2013
Leber congenital amaurosis 34Apr 30, 2013
Leber congenital amaurosis 47Apr 30, 2013
Leber congenital amaurosis 54Apr 30, 2013
Leber congenital amaurosis 71Apr 30, 2013
Leber congenital amaurosis 81Apr 30, 2013
Leber congenital amaurosis 91Apr 30, 2013
Leber's optic atrophy36Apr 30, 2013
Legius syndrome4Mar 26, 2013
Leigh's disease37Sep 8, 2014
Lenz microphthalmia syndrome1Oct 2, 2014
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation3Jan 8, 2013
Limb-girdle muscular dystrophy, type 1A1Jan 8, 2013
Limb-girdle muscular dystrophy, type 2A5Jan 8, 2013
Limb-girdle muscular dystrophy, type 2L4Jan 8, 2013
Lissencephaly 18Dec 11, 2014
MYH-associated polyposis3Mar 26, 2013
MYH9 related disorders13Apr 30, 2013
Majeed syndrome6Mar 26, 2013
Maple syrup urine disease4Apr 30, 2013
Maturity-onset diabetes of the young, type 21Jan 8, 2013
Megalencephalic leukoencephalopathy with subcortical cysts 19Mar 26, 2013
Megalencephalic leukoencephalopathy with subcortical cysts 2a3Apr 30, 2013
Megalencephaly cutis marmorata telangiectatica congenita1Apr 30, 2013
Melnick-Fraser syndrome4Apr 30, 2013
Melnick-Needles syndrome3Mar 26, 2013
Merosin deficient congenital muscular dystrophy5Nov 29, 2012
Metachromatic leukodystrophy15Jan 8, 2013
Metaphyseal chondrodysplasia, McKusick type1Nov 29, 2012
Microphthalmia, syndromic, 73Jan 8, 2013
Mitochondrial DNA depletion syndrome 232Jan 8, 2013
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1Jan 8, 2013
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)3Jan 8, 2013
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Jan 8, 2013
Mitochondrial diseases13Apr 30, 2013
Miyoshi muscular dystrophy 31Jan 8, 2013
Mohr-Tranebjaerg syndrome3Jan 8, 2013
Mucolipidosis III Gamma18Mar 26, 2013
Mucopolysaccharidosis, MPS-III-A6Apr 30, 2013
Mucopolysaccharidosis, MPS-IV-A2Apr 30, 2013
Multiple Cutaneous and Mucosal Venous Malformations2Jan 8, 2013
Multiple Epiphyseal Dysplasia, Dominant1Apr 30, 2013
Multiple epiphyseal dysplasia 110Apr 30, 2013
Multiple epiphyseal dysplasia 52Apr 30, 2013
Multiple fibrofolliculomas3Aug 13, 2014
Muscle hypertrophy3Apr 30, 2013
Myofibrillar myopathy 11Apr 30, 2013
Myofibrillar myopathy, BAG3-related1Jan 8, 2013
Myofibrillar myopathy, ZASP-related1Mar 26, 2013
Myoneural gastrointestinal encephalopathy syndrome2Jan 8, 2013
Myopathy, early-onset, with fatal cardiomyopathy2Nov 29, 2012
Myotonia congenita24Jan 8, 2013
NSDHL-Related Disorders2Jan 8, 2013
Navajo neurohepatopathy20Apr 30, 2013
Naxos disease2Jan 8, 2013
Nemaline myopathy 14Feb 25, 2015
Nemaline myopathy 21Apr 30, 2013
Nemaline myopathy 41Mar 26, 2013
Nemaline myopathy 51Mar 26, 2013
Nemaline myopathy 71Mar 26, 2013
Neonatal intrahepatic cholestasis caused by citrin deficiency10Mar 26, 2013
Neuroblastoma 38Apr 30, 2013
Neurodegeneration with brain iron accumulation 44May 29, 2014
Neuropathy hereditary sensory and autonomic type 14Mar 26, 2013
Niemann-Pick disease type C113Mar 26, 2013
Niemann-Pick disease type C210Jan 8, 2013
Non-ketotic hyperglycinemia6Apr 30, 2013
Nonaka myopathy2Mar 26, 2013
Noonan syndrome 12Mar 26, 2013
Ochoa syndrome2Apr 30, 2013
Oculocutaneous albinism type 1B1Apr 30, 2013
Oculofaciocardiodental syndrome1Oct 2, 2014
Optic Atrophy Type 11Jan 8, 2013
Optic atrophy and cataract, autosomal dominant3Jan 8, 2013
Oral-facial-digital syndrome108Mar 26, 2013
Osteogenesis imperfecta Levin type2Jan 8, 2013
Osteopetrosis autosomal recessive 44Apr 30, 2013
PC-K6a5Jul 25, 2014
Pachyonychia congenita type 21Jul 25, 2014
Pallister-Hall syndrome30Nov 29, 2012
Pancreatic agenesis, congenital2Jan 8, 2013
Paragangliomas 21Nov 29, 2012
Paragangliomas 53Nov 6, 2014
Parathyroid carcinoma8Apr 30, 2013
Parietal foramina 21Jan 8, 2013
Parkinson disease 24Mar 26, 2013
Parkinson disease 8, autosomal dominant128Jan 8, 2013
Paroxysmal nocturnal hemoglobinuria 11Mar 26, 2013
Pendred's syndrome4Jun 3, 2014
Permanent neonatal diabetes mellitus62Apr 30, 2013
Perry syndrome5Jan 8, 2013
Peters plus syndrome3Jan 8, 2013
Phytanic acid storage disease2Jan 8, 2013
Pigmented nodular adrenocortical disease, primary, 11Mar 26, 2013
Pituitary dependent hypercortisolism1Jan 8, 2013
Pontocerebellar hypoplasia type 2A1Jan 8, 2013
Pontocerebellar hypoplasia type 2B1Jan 8, 2013
Pontocerebellar hypoplasia type 2C1Jan 8, 2013
Pontocerebellar hypoplasia type 43Jan 8, 2013
Primary autosomal recessive microcephaly 17Mar 26, 2013
Primary autosomal recessive microcephaly 318Jan 8, 2013
Primary autosomal recessive microcephaly 5104Mar 26, 2013
Primary autosomal recessive microcephaly 611Jan 8, 2013
Primary autosomal recessive microcephaly 79Jan 8, 2013
Primary erythromelalgia14Apr 30, 2013
Primary hyperoxaluria, type I13Jul 24, 2014
Primary hyperoxaluria, type II4Mar 26, 2013
Progressive intrahepatic cholestasis5Apr 2, 2014
Progressive myoclonus epilepsy with ataxia3Mar 26, 2013
Propionic acidemia21Jan 8, 2013
Proteus syndrome1Nov 29, 2012
Protoporphyria, erythropoietic, X-linked3Mar 26, 2013
Pseudo-Hurler polydystrophy29Apr 30, 2013
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome12Mar 26, 2013
Pyruvate carboxylase deficiency16Apr 30, 2013
RRM2B-related mitochondrial disease36May 29, 2014
Radial aplasia-thrombocytopenia syndrome5Apr 30, 2013
Renal coloboma syndrome3Nov 20, 2014
Retinal cone dystrophy 3A1Apr 30, 2013
Retinitis pigmentosa3Jan 8, 2013
Rett's disorder2Jan 8, 2013
Rhizomelic chondrodysplasia punctata type 18Jan 8, 2013
Roberts-SC phocomelia syndrome27Jan 8, 2013
Salla disease3Jan 8, 2013
Segawa syndrome, autosomal recessive3Jul 24, 2014
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Jan 8, 2013
Severe combined immunodeficiency, atypical2Mar 26, 2013
Shwachman syndrome13Jan 8, 2013
Sialuria3Nov 29, 2012
Smith-Lemli-Opitz syndrome12Jan 8, 2013
Snyder Robinson syndrome8Apr 30, 2013
Somatotroph adenoma67Mar 26, 2013
Spastic ataxia Charlevoix-Saguenay type4Nov 29, 2012
Spastic paraplegia 11, autosomal recessive106Mar 26, 2013
Spastic paraplegia 312Apr 30, 2013
Spastic paraplegia 391Jul 28, 2014
Spastic paraplegia 84Apr 30, 2013
Spherocytosis type 58May 29, 2014
Spinocerebellar ataxia 106Jan 8, 2013
Spinocerebellar ataxia 113Mar 26, 2013
Spinocerebellar ataxia 1425Apr 30, 2013
Spinocerebellar ataxia 151Jun 13, 2014
Spinocerebellar ataxia 22Apr 30, 2013
Spinocerebellar ataxia 2812Nov 29, 2012
Spondylocarpotarsal synostosis syndrome5Mar 26, 2013
Spondylocostal dysostosis 213Apr 30, 2013
Spondylocostal dysostosis 31Jan 8, 2013
Spondylocostal dysostosis 4, autosomal recessive1Mar 26, 2013
Spondyloepimetaphyseal dysplasia Matrilin-3 related1Apr 30, 2013
Steinert myotonic dystrophy syndrome3Apr 30, 2013
Stickler syndrome type 12Oct 30, 2014
Stickler syndrome, type 41Oct 30, 2014
Stickler syndrome, type 51Oct 30, 2014
Terminal osseous dysplasia1Apr 30, 2013
Thanatophoric dysplasia type 113Apr 30, 2013
Thanatophoric dysplasia, type 21Apr 30, 2013
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis2Oct 1, 2014
Thrombophilia3Aug 21, 2014
Thyrotoxic periodic paralysis9Aug 7, 2014
Timothy syndrome2Jan 8, 2013
Tourette Syndrome2Jan 8, 2013
Transient neonatal diabetes mellitus 32Jan 8, 2013
Trimethylaminuria5Jan 8, 2013
Tyrosinase-negative oculocutaneous albinism1Apr 30, 2013
Tyrosinemia type I9Mar 26, 2013
UDPglucose-4-epimerase deficiency9Jan 8, 2013
Usher syndrome, type 1C3Apr 30, 2013
Usher syndrome, type 1G3Apr 30, 2013
Usher syndrome, type 1J1Apr 30, 2013
Variegate porphyria2Mar 26, 2013
Ventricular tachycardia, catecholaminergic polymorphic, 23Mar 26, 2013
Ventricular tachycardia, catecholaminergic polymorphic, 42Mar 6, 2014
Very long chain acyl-CoA dehydrogenase deficiency14Jan 8, 2013
WFS1-Related Disorders1Jan 8, 2013
Wagner syndrome7Apr 30, 2013
Weaver syndrome2Apr 30, 2013
Werner syndrome7Jan 8, 2013
Wilson's disease2Apr 30, 2013
X-linked hereditary motor and sensory neuropathy14Jan 8, 2013
X-linked mental retardation with marfanoid habitus syndrome1Jan 8, 2013
X-linked recessive hypophosphatemic rickets1Jan 8, 2013
Young Simpson syndrome2Jan 8, 2013
alpha Thalassemia21Jan 8, 2013