Genomics England Pilot Project (Genomics England)

General information

Genomics England Pilot Project
Genomics England
London
United States

Organization ID: 508170

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 569

Gene

GeneSubmissionsLast Updated
AARS11Jul 15, 2021
ABCA418Jul 15, 2021
ABCC81Jul 15, 2021
ABHD121Jul 15, 2021
ACO23Jul 15, 2021
ACTA21Jul 15, 2021
ACTA2-AS11Jul 15, 2021
ADA22Jul 15, 2021
ADAM91Jul 15, 2021
ADAR5Jul 15, 2021
ADCY51Jul 15, 2021
AGBL51Jul 15, 2021
AGXT2Jul 15, 2021
AHI11Jul 15, 2021
AIRE3Jul 15, 2021
ALG11Jul 15, 2021
ALG112Jul 15, 2021
ALG131Jul 15, 2021
ALG22Jul 15, 2021
ALPL1Jul 15, 2021
ANKRD113Jul 15, 2021
ANOS11Jul 15, 2021
ARHGEF181Jul 15, 2021
ARHGEF91Jul 15, 2021
ARX1Jul 15, 2021
ASPH2Jul 15, 2021
ASPM2Jul 15, 2021
ASXL31Jul 15, 2021
ATAD3A1Jul 15, 2021
ATM1Jul 15, 2021
ATP1A31Jul 15, 2021
ATP7A1Jul 15, 2021
B4GALNT11Jul 15, 2021
BAG31Jul 15, 2021
BBS13Jul 15, 2021
BBS21Jul 15, 2021
BBS41Jul 15, 2021
BCOR1Jul 15, 2021
BEST11Jul 15, 2021
BICD21Jul 15, 2021
BOLA31Jul 15, 2021
C1QTNF51Jul 15, 2021
CABP43Jul 15, 2021
CACNA1A6Jul 15, 2021
CACNA1F2Jul 15, 2021
CAPN11Jul 15, 2021
CARD111Jul 15, 2021
CARD141Jul 15, 2021
CASR1Jul 15, 2021
CC2D2A2Jul 15, 2021
CCNH1Jul 15, 2021
CDH231Jul 15, 2021
CDKL52Jul 15, 2021
CEP2902Jul 15, 2021
CEP781Jul 15, 2021
CERKL1Jul 15, 2021
CHEK21Jul 15, 2021
CHM1Jul 15, 2021
CHROMR1Jul 15, 2021
CIZ11Jul 15, 2021
CLCN11Jul 15, 2021
CNGB32Jul 15, 2021
COL11A12Jul 15, 2021
COL11A21Jul 15, 2021
COL12A11Jul 15, 2021
COL1A15Jul 15, 2021
COL1A24Jul 15, 2021
COL3A11Jul 15, 2021
COL4A42Jul 15, 2021
COL4A52Jul 15, 2021
COL6A11Jul 15, 2021
COL6A21Jul 15, 2021
COQ22Jul 15, 2021
COQ8B1Jul 15, 2021
COX6A11Jul 15, 2021
CRB15Jul 15, 2021
CRX2Jul 15, 2021
CRYAA2Jul 15, 2021
CRYAB1Jul 15, 2021
CRYBA12Jul 15, 2021
CRYGS1Jul 15, 2021
CTNNB11Jul 15, 2021
CTPS11Jul 15, 2021
CUX21Jul 15, 2021
CWC271Jul 15, 2021
CYGB1Jul 15, 2021
CYP1B11Jul 15, 2021
CYP21A21Jul 15, 2021
CYP7B13Jul 15, 2021
DCX1Jul 15, 2021
DDX3X1Jul 15, 2021
DES1Jul 15, 2021
DMD1Jul 15, 2021
DNAH56Jul 15, 2021
DNAI12Jul 15, 2021
DNM11Jul 15, 2021
DNM21Jul 15, 2021
DSG21Jul 15, 2021
DSP3Jul 15, 2021
DYNC1H12Jul 15, 2021
DYSF2Jul 15, 2021
EBF31Jul 15, 2021
EMD1Jul 15, 2021
EPHA21Jul 15, 2021
ERCC62Jul 15, 2021
ERCC82Jul 15, 2021
EVC2Jul 15, 2021
EXOSC31Jul 15, 2021
EYS1Jul 15, 2021
FA2H4Jul 15, 2021
FAM161A2Jul 15, 2021
FBN11Jul 15, 2021
FBXL42Jul 15, 2021
FECH2Jul 15, 2021
FGD42Jul 15, 2021
FGF121Jul 15, 2021
FGFR14Jul 15, 2021
FHL11Jul 15, 2021
FLAD12Jul 15, 2021
FLG3Jul 15, 2021
FZD41Jul 15, 2021
GAMT2Jul 15, 2021
GFER2Jul 15, 2021
GJA11Jul 15, 2021
GJA33Jul 15, 2021
GJB21Jul 15, 2021
GMPPB2Jul 15, 2021
GNA111Jul 15, 2021
GNB11Jul 15, 2021
GNE1Jul 15, 2021
GPD13Jul 15, 2021
GPR1432Jul 15, 2021
GRIA21Jul 15, 2021
GUCY2D6Jul 15, 2021
HGD1Jul 15, 2021
HGSNAT2Jul 15, 2021
HIVEP21Jul 15, 2021
HNRNPH21Jul 15, 2021
HPRT11Jul 15, 2021
HUWE11Jul 15, 2021
IDH11Jul 15, 2021
IFT1404Jul 15, 2021
INF22Jul 15, 2021
ITPR12Jul 15, 2021
JMJD81Jul 15, 2021
KCNH21Jul 15, 2021
KCNQ41Jul 15, 2021
KCNV22Jul 15, 2021
KDM5B1Jul 15, 2021
KIF1A2Jul 15, 2021
KIF1C1Jul 15, 2021
KIF5A2Jul 15, 2021
KMT2A1Jul 15, 2021
KMT2B1Jul 15, 2021
KMT2D1Jul 15, 2021
LHCGR1Jul 15, 2021
LITAF1Jul 15, 2021
LOC1019280081Jul 15, 2021
LOC1053710462Jul 15, 2021
LOC1067808001Jul 15, 2021
LOC1129975401Jul 15, 2021
LRP22Jul 15, 2021
LRP52Jul 15, 2021
LZTR11Jul 15, 2021
MAP2K11Jul 15, 2021
MEA11Jul 15, 2021
MED13L1Jul 15, 2021
MEN11Jul 15, 2021
MFN21Jul 15, 2021
MFRP1Jul 15, 2021
MFSD81Jul 15, 2021
MIR97181Jul 15, 2021
MME3Jul 15, 2021
MORC21Jul 15, 2021
MPV171Jul 15, 2021
MPZ1Jul 15, 2021
MRPL441Jul 15, 2021
MT-ATP65Jul 15, 2021
MT-ND12Jul 15, 2021
MT-ND31Jul 15, 2021
MT-ND41Jul 15, 2021
MT-ND61Jul 15, 2021
MUTYH4Jul 15, 2021
MYBPC31Jul 15, 2021
MYH75Jul 15, 2021
MYH91Jul 15, 2021
MYO7A3Jul 15, 2021
NEB2Jul 15, 2021
NF14Jul 15, 2021
NIPAL41Jul 15, 2021
NMNAT12Jul 15, 2021
NOD21Jul 15, 2021
NOTCH31Jul 15, 2021
NPC14Jul 15, 2021
NPHS13Jul 15, 2021
NR0B11Jul 15, 2021
NSD11Jul 15, 2021
NYX1Jul 15, 2021
OCA22Jul 15, 2021
OPA15Jul 15, 2021
OTX21Jul 15, 2021
PARK71Jul 15, 2021
PC1Jul 15, 2021
PCARE1Jul 15, 2021
PCDH191Jul 15, 2021
PDE6B3Jul 15, 2021
PDE6B-AS11Jul 15, 2021
PDHA13Jul 15, 2021
PEX12Jul 15, 2021
PIK3CA1Jul 15, 2021
PITX21Jul 15, 2021
PKD12Jul 15, 2021
PKD21Jul 15, 2021
PKHD12Jul 15, 2021
PKP22Jul 15, 2021
PLA2G64Jul 15, 2021
PLP11Jul 15, 2021
PMP221Jul 15, 2021
PMS21Jul 15, 2021
PNPT11Jul 15, 2021
POLG3Jul 15, 2021
POLR2F1Jul 15, 2021
POLR3A3Jul 15, 2021
POLR3B2Jul 15, 2021
POMGNT12Jul 15, 2021
PPA22Jul 15, 2021
PPP2R5D1Jul 15, 2021
PRCD1Jul 15, 2021
PRKCG3Jul 15, 2021
PRKRA1Jul 15, 2021
PROKR24Jul 15, 2021
PROM12Jul 15, 2021
PRPF312Jul 15, 2021
PRPF81Jul 15, 2021
PRPH22Jul 15, 2021
PRPS11Jul 15, 2021
PRSS231Jul 15, 2021
PRUNE11Jul 15, 2021
PSAP2Jul 15, 2021
PTEN1Jul 15, 2021
PTPN112Jul 15, 2021
PTPRQ1Jul 15, 2021
PURA1Jul 15, 2021
PUS71Jul 15, 2021
PYGM2Jul 15, 2021
RAB9B1Jul 15, 2021
RAF12Jul 15, 2021
RASA11Jul 15, 2021
RBCK12Jul 15, 2021
RBP31Jul 15, 2021
REEP11Jul 15, 2021
RET1Jul 15, 2021
RHO3Jul 15, 2021
RIF11Jul 15, 2021
RIT11Jul 15, 2021
RLIM1Jul 15, 2021
RNASEH2B1Jul 15, 2021
RP21Jul 15, 2021
RPL36A-HNRNPH21Jul 15, 2021
RS11Jul 15, 2021
RSPH12Jul 15, 2021
RYR21Jul 15, 2021
SACS4Jul 15, 2021
SBF21Jul 15, 2021
SCN2A1Jul 15, 2021
SCN5A2Jul 15, 2021
SCO21Jul 15, 2021
SDHA1Jul 15, 2021
SERAC11Jul 15, 2021
SETBP11Jul 15, 2021
SETX2Jul 15, 2021
SGSH4Jul 15, 2021
SH3TC22Jul 15, 2021
SIX11Jul 15, 2021
SLC12A32Jul 15, 2021
SLC16A11Jul 15, 2021
SLC17A51Jul 15, 2021
SLC20A21Jul 15, 2021
SLC2A12Jul 15, 2021
SLC3A11Jul 15, 2021
SLC45A21Jul 15, 2021
SLC4A111Jul 15, 2021
SLC7A91Jul 15, 2021
SMC1A1Jul 15, 2021
SMCHD11Jul 15, 2021
SNRNP2001Jul 15, 2021
SORD1Jul 15, 2021
SOX101Jul 15, 2021
SOX51Jul 15, 2021
SPAG11Jul 15, 2021
SPAST2Jul 15, 2021
SPG114Jul 15, 2021
SPG79Jul 15, 2021
SPTAN11Jul 15, 2021
SPTB1Jul 15, 2021
SPTLC11Jul 15, 2021
SRD5A22Jul 15, 2021
SRD5A31Jul 15, 2021
STAR1Jul 15, 2021
STIM11Jul 15, 2021
STK111Jul 15, 2021
STON1-GTF2A1L1Jul 15, 2021
STUB12Jul 15, 2021
STXBP12Jul 15, 2021
SUFU1Jul 15, 2021
SYNE14Jul 15, 2021
SYT21Jul 15, 2021
TBL1XR11Jul 15, 2021
TCN21Jul 15, 2021
TECPR22Jul 15, 2021
TFG1Jul 15, 2021
TMC13Jul 15, 2021
TMEM2401Jul 15, 2021
TMPRSS32Jul 15, 2021
TNNT22Jul 15, 2021
TRPM12Jul 15, 2021
TRPV31Jul 15, 2021
TRPV41Jul 15, 2021
TSC21Jul 15, 2021
TSEN541Jul 15, 2021
TSPAN12Jul 15, 2021
TTN5Jul 15, 2021
TTN-AS13Jul 15, 2021
TUBB4A1Jul 15, 2021
TULP13Jul 15, 2021
TWNK1Jul 15, 2021
TYMP1Jul 15, 2021
TYR2Jul 15, 2021
UBAP11Jul 15, 2021
UBE3B1Jul 15, 2021
UMOD6Jul 15, 2021
USH2A21Jul 15, 2021
USH2A-AS11Jul 15, 2021
USH2A-AS21Jul 15, 2021
UTP14C1Jul 15, 2021
VPS13A1Jul 15, 2021
VPS13B2Jul 15, 2021
WASHC51Jul 15, 2021
WFS13Jul 15, 2021
ZBTB201Jul 15, 2021
ZDHHC242Jul 15, 2021
ZEB21Jul 15, 2021
ZFYVE261Jul 15, 2021
ZSWIM61Jul 15, 2021

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2Jul 15, 2021
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Jul 15, 2021
ALG1-CDG1Jul 15, 2021
ALG2-CDG2Jul 15, 2021
Achromatopsia 32Jul 15, 2021
Adult hypophosphatasia1Jul 15, 2021
Age-related macular degeneration 23Jul 15, 2021
Aicardi Goutieres syndrome 21Jul 15, 2021
Aicardi-Goutieres syndrome 65Jul 15, 2021
Alkaptonuria1Jul 15, 2021
Alport syndrome 1, X-linked recessive2Jul 15, 2021
Aortic aneurysm, familial thoracic 61Jul 15, 2021
Arrhythmogenic right ventricular cardiomyopathy, type 101Jul 15, 2021
Arrhythmogenic right ventricular dysplasia 81Jul 15, 2021
Arrhythmogenic right ventricular dysplasia 92Jul 15, 2021
Arrhythmogenic right ventricular dysplasia, familial, 21Jul 15, 2021
Arts syndrome1Jul 15, 2021
Ataxia, spastic, 2, autosomal recessive1Jul 15, 2021
Autosomal dominant nonsyndromic deafness 171Jul 15, 2021
Autosomal dominant nonsyndromic deafness 2A1Jul 15, 2021
Autosomal dominant nonsyndromic deafness 61Jul 15, 2021
Autosomal dominant torsion dystonia 41Jul 15, 2021
Autosomal recessive congenital ichthyosis 61Jul 15, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B2Jul 15, 2021
Axenfeld-Rieger syndrome type 11Jul 15, 2021
B-cell expansion with NFKB and T-cell anergy1Jul 15, 2021
Bainbridge-Ropers syndrome1Jul 15, 2021
Bardet-Biedl syndrome 13Jul 15, 2021
Bardet-Biedl syndrome 142Jul 15, 2021
Bardet-Biedl syndrome 21Jul 15, 2021
Bardet-Biedl syndrome 41Jul 15, 2021
Becker muscular dystrophy1Jul 15, 2021
Benign familial hematuria2Jul 15, 2021
Blau syndrome1Jul 15, 2021
Branchiootic syndrome 31Jul 15, 2021
Capillary malformation-arteriovenous malformation 11Jul 15, 2021
Cardiofaciocutaneous syndrome 31Jul 15, 2021
Cardiomyopathy, dilated, 1NN1Jul 15, 2021
Cataract 16, multiple types2Jul 15, 2021
Cataract 20 multiple types1Jul 15, 2021
Cataract 6, multiple types1Jul 15, 2021
Cataract, autosomal dominant2Jul 15, 2021
Cataract, congenital zonular, with sutural opacities2Jul 15, 2021
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Jul 15, 2021
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11Jul 15, 2021
Charcot-Marie-Tooth disease dominant intermediate d1Jul 15, 2021
Charcot-Marie-Tooth disease, axonal, type 2EE1Jul 15, 2021
Charcot-Marie-Tooth disease, axonal, type 2O2Jul 15, 2021
Charcot-Marie-Tooth disease, axonal, type 2T3Jul 15, 2021
Charcot-Marie-Tooth disease, axonal, type 2z1Jul 15, 2021
Charcot-Marie-Tooth disease, dominant intermediate B1Jul 15, 2021
Charcot-Marie-Tooth disease, recessive intermediate d1Jul 15, 2021
Charcot-Marie-Tooth disease, type 1C1Jul 15, 2021
Charcot-Marie-Tooth disease, type 2N1Jul 15, 2021
Charcot-Marie-Tooth disease, type 4B21Jul 15, 2021
Charcot-Marie-Tooth disease, type 4C2Jul 15, 2021
Charcot-Marie-Tooth disease, type 4H2Jul 15, 2021
Charcot-Marie-Tooth disease, type IA1Jul 15, 2021
Charlevoix-Saguenay spastic ataxia4Jul 15, 2021
Cholesterol monooxygenase (side-chain cleaving) deficiency1Jul 15, 2021
Choreoacanthocytosis1Jul 15, 2021
Choroideremia2Jul 15, 2021
Ciliary dyskinesia, primary, 281Jul 15, 2021
Ciliary dyskinesia, primary, 36Jul 15, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Jul 15, 2021
Cockayne syndrome B2Jul 15, 2021
Cockayne syndrome type A2Jul 15, 2021
Coenzyme Q10 deficiency, primary 12Jul 15, 2021
Cohen syndrome2Jul 15, 2021
Combined oxidative phosphorylation deficiency 131Jul 15, 2021
Combined oxidative phosphorylation deficiency 161Jul 15, 2021
Combined saposin deficiency2Jul 15, 2021
Cone dystrophy with supernormal rod response2Jul 15, 2021
Cone-rod dystrophy 122Jul 15, 2021
Cone-rod dystrophy 21Jul 15, 2021
Cone-rod dystrophy 63Jul 15, 2021
Cone-rod dystrophy 91Jul 15, 2021
Cone-rod dystrophy and hearing loss 11Jul 15, 2021
Congenital adrenal hypoplasia, X-linked1Jul 15, 2021
Congenital disorder of glycosylation type 1P2Jul 15, 2021
Congenital myotonia, autosomal dominant form1Jul 15, 2021
Congenital stationary night blindness, autosomal dominant 12Jul 15, 2021
Congenital stationary night blindness, type 1A1Jul 15, 2021
Congenital stationary night blindness, type 1C2Jul 15, 2021
Congenital stationary night blindness, type 2B3Jul 15, 2021
Corneal dystrophy-perceptive deafness syndrome1Jul 15, 2021
Cutis laxa, X-linked1Jul 15, 2021
Cystinuria2Jul 15, 2021
Deafness, autosomal dominant 363Jul 15, 2021
Deafness, autosomal dominant 731Jul 15, 2021
Deafness, autosomal recessive 121Jul 15, 2021
Deafness, autosomal recessive 23Jul 15, 2021
Deafness, autosomal recessive 82Jul 15, 2021
Deficiency of guanidinoacetate methyltransferase2Jul 15, 2021
Developmental and epileptic encephalopathy, 671Jul 15, 2021
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Jul 15, 2021
Dilated cardiomyopathy 1G4Jul 15, 2021
Dilated cardiomyopathy 1HH1Jul 15, 2021
Dilated cardiomyopathy with woolly hair and keratoderma2Jul 15, 2021
Distal hereditary motor neuronopathy type 5B1Jul 15, 2021
Donnai-Barrow syndrome2Jul 15, 2021
Dyskinesia, familial, with facial myokymia1Jul 15, 2021
Dystonia 161Jul 15, 2021
Dystonia 28, childhood-onset1Jul 15, 2021
Early infantile epileptic encephalopathy 111Jul 15, 2021
Early infantile epileptic encephalopathy 21Jul 15, 2021
Early infantile epileptic encephalopathy 42Jul 15, 2021
Early infantile epileptic encephalopathy 51Jul 15, 2021
Early infantile epileptic encephalopathy 81Jul 15, 2021
Early infantile epileptic encephalopathy 91Jul 15, 2021
Ehlers-Danlos syndrome, type 41Jul 15, 2021
Ellis-van Creveld syndrome2Jul 15, 2021
Emery-Dreifuss muscular dystrophy 1, X-linked1Jul 15, 2021
Epileptic encephalopathy, early infantile, 311Jul 15, 2021
Epileptic encephalopathy, early infantile, 361Jul 15, 2021
Epileptic encephalopathy, early infantile, 471Jul 15, 2021
Erythrocyte lactate transporter defect1Jul 15, 2021
Exudative vitreoretinopathy 11Jul 15, 2021
Exudative vitreoretinopathy 42Jul 15, 2021
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs2Jul 15, 2021
Facioscapulohumeral muscular dystrophy 21Jul 15, 2021
Familial cancer of breast1Jul 15, 2021
Familial hypertrophic cardiomyopathy 15Jul 15, 2021
Familial hypertrophic cardiomyopathy 22Jul 15, 2021
Familial hypertrophic cardiomyopathy 41Jul 15, 2021
Familial hypokalemia-hypomagnesemia2Jul 15, 2021
Familial juvenile hyperuricemic nephropathy type 16Jul 15, 2021
Finnish congenital nephrotic syndrome3Jul 15, 2021
Focal segmental glomerulosclerosis 52Jul 15, 2021
GLUT1 deficiency syndrome 22Jul 15, 2021
Germ cell tumor of testis1Jul 15, 2021
Glaucoma 3, primary congenital, A1Jul 15, 2021
Glioma susceptibility 11Jul 15, 2021
Glioma susceptibility 21Jul 15, 2021
Glycogen storage disease, type V2Jul 15, 2021
Gonadotropin-independent familial sexual precocity1Jul 15, 2021
Harel-Yoon syndrome1Jul 15, 2021
Hereditary motor and sensory neuropathy with optic atrophy1Jul 15, 2021
Hereditary nonpolyposis colorectal cancer type 41Jul 15, 2021
Hereditary spastic paraplegia 102Jul 15, 2021
Hereditary spastic paraplegia 151Jul 15, 2021
Hereditary spastic paraplegia 21Jul 15, 2021
Hereditary spastic paraplegia 261Jul 15, 2021
Hereditary spastic paraplegia 5A3Jul 15, 2021
Hereditary spastic paraplegia 79Jul 15, 2021
Hirschsprung disease 11Jul 15, 2021
Hyperinsulinemic hypoglycemia, familial, 11Jul 15, 2021
Hypertriglyceridemia, transient infantile3Jul 15, 2021
Hypocalcemia, autosomal dominant 21Jul 15, 2021
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1Jul 15, 2021
Hypogonadotropic hypogonadism 2 with or without anosmia4Jul 15, 2021
Hypomyelinating leukodystrophy 73Jul 15, 2021
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism2Jul 15, 2021
Hypotonia, ataxia, and delayed development syndrome1Jul 15, 2021
Ichthyosis vulgaris3Jul 15, 2021
Idiopathic basal ganglia calcification 11Jul 15, 2021
Immunodeficiency 241Jul 15, 2021
Infantile cerebellar-retinal degeneration3Jul 15, 2021
Infantile hypophosphatasia1Jul 15, 2021
Infantile onset spinocerebellar ataxia1Jul 15, 2021
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Jul 15, 2021
Intellectual disability, X-linked syndromic, Turner type1Jul 15, 2021
Intellectual disability, autosomal recessive 651Jul 15, 2021
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1Jul 15, 2021
Joubert syndrome 31Jul 15, 2021
Joubert syndrome with hepatic defect2Jul 15, 2021
Juvenile retinoschisis1Jul 15, 2021
KBG syndrome3Jul 15, 2021
Kabuki syndrome 11Jul 15, 2021
Kahrizi syndrome1Jul 15, 2021
Kallmann syndrome 34Jul 15, 2021
Kartagener syndrome2Jul 15, 2021
Kaufman oculocerebrofacial syndrome1Jul 15, 2021
Knuckle pads, deafness AND leukonychia syndrome1Jul 15, 2021
Lamb-shaffer syndrome1Jul 15, 2021
Late-onset retinal degeneration1Jul 15, 2021
Leber congenital amaurosis 14Jul 15, 2021
Leber congenital amaurosis 71Jul 15, 2021
Leber congenital amaurosis 92Jul 15, 2021
Leber hereditary optic neuropathy9Jul 15, 2021
Lesch-Nyhan syndrome1Jul 15, 2021
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency2Jul 15, 2021
Lissencephaly, X-linked1Jul 15, 2021
Long QT syndrome 21Jul 15, 2021
Long QT syndrome 32Jul 15, 2021
MYH-associated polyposis4Jul 15, 2021
Macular dystrophy with central cone involvement1Jul 15, 2021
Macular dystrophy, patterned, 12Jul 15, 2021
Malignant tumor of prostate1Jul 15, 2021
Marfan syndrome1Jul 15, 2021
Megalencephaly-capillary malformation-polymicrogyria syndrome1Jul 15, 2021
Meningioma, familial1Jul 15, 2021
Mental retardation and distinctive facial features with or without cardiac defects1Jul 15, 2021
Mental retardation, X-linked 1021Jul 15, 2021
Mental retardation, X-linked 611Jul 15, 2021
Mental retardation, X-linked, syndromic, Bain type1Jul 15, 2021
Mental retardation, autosomal dominant 191Jul 15, 2021
Mental retardation, autosomal dominant 311Jul 15, 2021
Mental retardation, autosomal dominant 351Jul 15, 2021
Mental retardation, autosomal dominant 421Jul 15, 2021
Mental retardation, autosomal dominant 431Jul 15, 2021
Mental retardation, with or without seizures, ARX-related, X-linked1Jul 15, 2021
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1Jul 15, 2021
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)2Jul 15, 2021
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1Jul 15, 2021
Mitochondrial complex I deficiency1Jul 15, 2021
Mowat-Wilson syndrome1Jul 15, 2021
Mucopolysaccharidosis, MPS-III-A4Jul 15, 2021
Multiple endocrine neoplasia, type 11Jul 15, 2021
Multiple mitochondrial dysfunctions syndrome 21Jul 15, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 142Jul 15, 2021
Myasthenic syndrome, congenital, 7, presynaptic1Jul 15, 2021
Myofibrillar myopathy 11Jul 15, 2021
Myopathy with postural muscle atrophy, X-linked1Jul 15, 2021
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2Jul 15, 2021
Myopathy, myofibrillar, 9, with early respiratory failure1Jul 15, 2021
Myopathy, tubular aggregate, 11Jul 15, 2021
Nemaline myopathy 22Jul 15, 2021
Neonatal severe hyperparathyroidism1Jul 15, 2021
Nephrotic syndrome, type 91Jul 15, 2021
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Jul 15, 2021
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Jul 15, 2021
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1Jul 15, 2021
Neurofibromatosis, type 12Jul 15, 2021
Neurofibromatosis-Noonan syndrome2Jul 15, 2021
Neuropathy, hereditary sensory and autonomic, type 1A1Jul 15, 2021
Niemann-Pick disease type C14Jul 15, 2021
Noonan syndrome 12Jul 15, 2021
Noonan syndrome 51Jul 15, 2021
Noonan syndrome 81Jul 15, 2021
Ocular albinism, type I2Jul 15, 2021
Oculocutaneous albinism type 41Jul 15, 2021
Oculodentodigital dysplasia1Jul 15, 2021
Oculofaciocardiodental syndrome1Jul 15, 2021
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4Jul 15, 2021
Osteogenesis imperfecta, recessive perinatal lethal9Jul 15, 2021
Palmoplantar keratoderma, nonepidermolytic, focal 21Jul 15, 2021
Paragangliomas 51Jul 15, 2021
Parkinson disease 144Jul 15, 2021
Parkinson disease 71Jul 15, 2021
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1Jul 15, 2021
Peroxisome biogenesis disorder 1A (Zellweger)2Jul 15, 2021
Pierpont syndrome1Jul 15, 2021
Polyarteritis nodosa, childhoood-onset2Jul 15, 2021
Polycystic kidney disease 21Jul 15, 2021
Polycystic kidney disease 42Jul 15, 2021
Polycystic kidney disease, adult type2Jul 15, 2021
Polyglandular autoimmune syndrome, type 13Jul 15, 2021
Polyglucosan body myopathy 1 with or without immunodeficiency2Jul 15, 2021
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1Jul 15, 2021
Pontocerebellar hypoplasia type 41Jul 15, 2021
Pontocerebellar hypoplasia, type 1b1Jul 15, 2021
Primary autosomal recessive microcephaly 52Jul 15, 2021
Primary ciliary dyskinesia 242Jul 15, 2021
Primary hyperoxaluria, type I2Jul 15, 2021
Progressive sclerosing poliodystrophy3Jul 15, 2021
Protoporphyria, erythropoietic, 12Jul 15, 2021
Pyruvate carboxylase deficiency1Jul 15, 2021
Pyruvate dehydrogenase E1-alpha deficiency3Jul 15, 2021
Retinitis pigmentosa 112Jul 15, 2021
Retinitis pigmentosa 125Jul 15, 2021
Retinitis pigmentosa 131Jul 15, 2021
Retinitis pigmentosa 143Jul 15, 2021
Retinitis pigmentosa 1915Jul 15, 2021
Retinitis pigmentosa 21Jul 15, 2021
Retinitis pigmentosa 251Jul 15, 2021
Retinitis pigmentosa 261Jul 15, 2021
Retinitis pigmentosa 282Jul 15, 2021
Retinitis pigmentosa 331Jul 15, 2021
Retinitis pigmentosa 361Jul 15, 2021
Retinitis pigmentosa 3911Jul 15, 2021
Retinitis pigmentosa 41Jul 15, 2021
Retinitis pigmentosa 403Jul 15, 2021
Retinitis pigmentosa 541Jul 15, 2021
Retinitis pigmentosa 661Jul 15, 2021
Retinitis pigmentosa 732Jul 15, 2021
Retinitis pigmentosa 751Jul 15, 2021
Retinitis pigmentosa 762Jul 15, 2021
Retinitis pigmentosa 781Jul 15, 2021
Retinitis pigmentosa 804Jul 15, 2021
Retinitis pigmentosa with or without skeletal anomalies1Jul 15, 2021
Ritscher-Schinzel syndrome 11Jul 15, 2021
Schinzel-Giedion syndrome1Jul 15, 2021
Schwannomatosis 21Jul 15, 2021
Sialic acid storage disease, severe infantile type1Jul 15, 2021
Sialuria1Jul 15, 2021
Skin/hair/eye pigmentation, variation in, 32Jul 15, 2021
Sorbitol dehydrogenase deficiency with peripheral neuropathy1Jul 15, 2021
Sotos syndrome 11Jul 15, 2021
Spastic paraplegia 11, autosomal recessive4Jul 15, 2021
Spastic paraplegia 30, autosomal recessive2Jul 15, 2021
Spastic paraplegia 354Jul 15, 2021
Spastic paraplegia 4, autosomal dominant2Jul 15, 2021
Spastic paraplegia 49, autosomal recessive2Jul 15, 2021
Spastic paraplegia 57, autosomal recessive1Jul 15, 2021
Spastic paraplegia 76, autosomal recessive1Jul 15, 2021
Spastic paraplegia 80, autosomal dominant1Jul 15, 2021
Spherocytosis type 21Jul 15, 2021
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1Jul 15, 2021
Spinocerebellar ataxia type 143Jul 15, 2021
Spinocerebellar ataxia type 211Jul 15, 2021
Spinocerebellar ataxia type 292Jul 15, 2021
Spinocerebellar ataxia type 66Jul 15, 2021
Spinocerebellar ataxia, autosomal recessive 162Jul 15, 2021
Spinocerebellar ataxia, autosomal recessive 84Jul 15, 2021
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Jul 15, 2021
Spondylometaphyseal dysplasia, Kozlowski type1Jul 15, 2021
Stickler syndrome type 22Jul 15, 2021
Sudden cardiac failure, infantile2Jul 15, 2021
Syndromic microphthalmia type 51Jul 15, 2021
Transcolabamin II deficiency1Jul 15, 2021
Tuberous sclerosis 21Jul 15, 2021
Type 2 diabetes mellitus2Jul 15, 2021
Tyrosinase-positive oculocutaneous albinism2Jul 15, 2021
Ullrich congenital muscular dystrophy 12Jul 15, 2021
Usher syndrome, type 2A10Jul 15, 2021
Vitelliform macular dystrophy type 21Jul 15, 2021
Wiedemann-Steiner syndrome1Jul 15, 2021
X-linked cone-rod dystrophy 32Jul 15, 2021
Zonular pulverulent cataract 33Jul 15, 2021
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