Department of Genetics (Sultan Qaboos University Hospital, Oman), SQUH-Genetics

General information

Department of Genetics, SQUH-Genetics
Sultan Qaboos University Hospital, Oman
Muscat
Oman - 123
http://www.squh.edu.om/
Organization ID: 506653

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 234

Gene

GeneSubmissionsLast Updated
AARS21Oct 25, 2018
ABCA41Oct 25, 2018
ABCB112Oct 25, 2018
ACADM1Oct 25, 2018
ACADVL1Oct 25, 2018
AGA1Oct 25, 2018
AGL1Oct 25, 2018
AGXT2Oct 25, 2018
AIRE1Oct 25, 2018
ALDH3A21Oct 25, 2018
ALDH7A11Oct 25, 2018
ALOX12B2Oct 25, 2018
ALOXE31Oct 25, 2018
AMT2Oct 25, 2018
ANTXR21Oct 25, 2018
AR1Oct 25, 2018
ARSA1Oct 25, 2018
ARSB1Oct 25, 2018
ASL1Oct 25, 2018
ASNS2Oct 25, 2018
ASS11Oct 25, 2018
ATP6V0A22Oct 25, 2018
ATP7B1Oct 25, 2018
ATRIP1Oct 25, 2018
ATRIP-TREX11Oct 25, 2018
AXDND11Oct 25, 2018
BCKDHA3Oct 25, 2018
BCKDHB1Oct 25, 2018
BEST11Oct 25, 2018
BRCA21Oct 25, 2018
BRWD31Oct 25, 2018
BSCL23Oct 25, 2018
C1QTNF51Oct 25, 2018
CAVIN11Oct 25, 2018
CBS1Oct 25, 2018
CFTR8Oct 25, 2018
CFTR-AS11Oct 25, 2018
CHRNE1Oct 25, 2018
CHRNG1Oct 25, 2018
CHST31Oct 25, 2018
CLCN11Oct 25, 2018
CLN51Oct 25, 2018
CLN61Oct 25, 2018
CNGA31Oct 25, 2018
COA81Oct 25, 2018
COL18A11Oct 25, 2018
COL2A11Oct 25, 2018
COL7A11Oct 25, 2018
CPT21Oct 25, 2018
CSTB1Oct 25, 2018
CTSC1Oct 25, 2018
CTSK2Oct 25, 2018
CUL72Oct 25, 2018
CYP1B14Oct 25, 2018
CZ1P-ASNS2Oct 25, 2018
DBT3Oct 25, 2018
DDHD21Oct 25, 2018
DEAF11Oct 25, 2018
DM1-AS1Oct 25, 2018
DMPK1Oct 25, 2018
DNAJB21Oct 25, 2018
DSC21Oct 25, 2018
DYSF3Oct 25, 2018
ELANE1Oct 25, 2018
ELMO21Oct 25, 2018
EPG52Oct 25, 2018
ETFDH1Oct 25, 2018
FA2H2Oct 25, 2018
FAH2Oct 25, 2018
FARSB1Jul 29, 2018
FAT41Oct 25, 2018
FBN11Oct 25, 2018
FBXL31Oct 25, 2018
FERMT12Oct 25, 2018
FGFR32Oct 25, 2018
FH1Oct 25, 2018
FMR13Oct 25, 2018
FMR1-AS11Oct 25, 2018
FRAXA2Oct 25, 2018
G6PD4Oct 25, 2018
GALC1Oct 25, 2018
GALNS1Oct 25, 2018
GALT1Oct 25, 2018
GAN1Oct 25, 2018
GCDH2Oct 25, 2018
GDF51Oct 25, 2018
GDF5-AS11Oct 25, 2018
GJC21Oct 25, 2018
GLDC2Oct 25, 2018
GLRA11Oct 25, 2018
GM2A1Oct 25, 2018
GORAB1Oct 25, 2018
GORAB-AS11Oct 25, 2018
GPT21Oct 25, 2018
GUCY2D2Oct 25, 2018
HEXB1Oct 25, 2018
HNRNPUL2-BSCL23Oct 25, 2018
HPS61Oct 25, 2018
HR1Oct 25, 2018
HSD11B24Oct 25, 2018
HSPG22Oct 25, 2018
IVD3Oct 25, 2018
KCTD71Oct 25, 2018
LAMA22Oct 25, 2018
LDLR1Oct 25, 2018
LHX31Oct 25, 2018
LIFR1Oct 25, 2018
LOC1053715662Oct 25, 2018
LOC1060293121Oct 25, 2018
LOC1070328252Oct 25, 2018
LOC1070753171Oct 25, 2018
LOC1116744751Oct 25, 2018
LOC1136338771Oct 25, 2018
LYST1Oct 25, 2018
MAN2B11Oct 25, 2018
MCOLN11Oct 25, 2018
MEFV1Oct 25, 2018
MFRP1Oct 25, 2018
MPV171Oct 25, 2018
MTHFR1Oct 25, 2018
MTMR21Oct 25, 2018
MYO15A2Oct 25, 2018
MYO7A1Oct 25, 2018
NAGLU2Oct 25, 2018
NBN1Oct 25, 2018
NCF11Oct 25, 2018
NDUFS21Oct 25, 2018
NEB1Oct 25, 2018
NHLRC11Oct 25, 2018
NICN11Oct 25, 2018
NOD21Oct 25, 2018
NPC11Oct 25, 2018
NPHS22Oct 25, 2018
NR0B11Oct 25, 2018
NR2E31Oct 25, 2018
NRL1Oct 25, 2018
PCCA1Oct 25, 2018
PCCB1Oct 25, 2018
PHKG21Oct 25, 2018
PIGA1Oct 25, 2018
PKD11Oct 25, 2018
PKHD13Oct 25, 2018
PLA2G63Oct 25, 2018
PLCB41Oct 25, 2018
PNKD1Oct 25, 2018
POC1A1Oct 25, 2018
POLG1Oct 25, 2018
POLR1C1Oct 25, 2018
PRF14Oct 25, 2018
PRRT21Oct 25, 2018
PYCR11Oct 25, 2018
PYCR21Oct 25, 2018
QDPR1Oct 25, 2018
RAB3GAP13Oct 25, 2018
RAD501Oct 25, 2018
RET1Oct 25, 2018
RIF11Oct 25, 2018
ROR22Oct 25, 2018
RPE651Oct 25, 2018
SACS4Oct 25, 2018
SELENON1Oct 25, 2018
SERAC11Oct 25, 2018
SIGMAR11Oct 25, 2018
SLC19A11Oct 25, 2018
SLC37A41Oct 25, 2018
SLC4A11Oct 25, 2018
SLC52A32Oct 25, 2018
SLC6A81Oct 25, 2018
SMARCA21Oct 25, 2018
SPART1Oct 25, 2018
SPINK11Oct 25, 2018
SPINK51Oct 25, 2018
SUCLA21Oct 25, 2018
SUOX1Oct 25, 2018
TARS21Oct 25, 2018
TBCE1Oct 25, 2018
TGM12Oct 25, 2018
THRB1Oct 25, 2018
TMEM1381Oct 25, 2018
TMEM671Oct 25, 2018
TNFRSF1A2Oct 25, 2018
TPO2Oct 25, 2018
TPP11Oct 25, 2018
TREX11Oct 25, 2018
TRIM371Oct 25, 2018
TSHR1Oct 25, 2018
VPS13B1Oct 25, 2018
WDR191Oct 25, 2018
WDR722Oct 25, 2018
WNT10B1Oct 25, 2018

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Oct 25, 2018
Achondroplasia1Oct 25, 2018
Achromatopsia 21Oct 25, 2018
Aicardi Goutieres syndrome 11Oct 25, 2018
Alopecia universalis congenita1Oct 25, 2018
Amelogenesis imperfecta, hypomaturation type, IIA32Oct 25, 2018
Androgen resistance syndrome1Oct 25, 2018
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Oct 25, 2018
Angioedema induced by ACE inhibitors, susceptibility to1Oct 25, 2018
Apparent mineralocorticoid excess4Oct 25, 2018
Argininosuccinate lyase deficiency1Oct 25, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 111Oct 25, 2018
Asparagine synthetase deficiency2Oct 25, 2018
Aspartylglucosaminuria1Oct 25, 2018
Auriculocondylar syndrome 21Oct 25, 2018
Autosomal recessive congenital ichthyosis 12Oct 25, 2018
Autosomal recessive congenital ichthyosis 22Oct 25, 2018
Autosomal recessive congenital ichthyosis 31Oct 25, 2018
Autosomal recessive cutis laxa type 3B1Oct 25, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2B3Oct 25, 2018
Autosomal recessive multiple pterygium syndrome1Oct 25, 2018
Autosomal recessive polycystic kidney disease3Oct 25, 2018
Blau syndrome1Oct 25, 2018
Bone mineral density quantitative trait locus 181Oct 25, 2018
Breast-ovarian cancer, familial 21Oct 25, 2018
Brown-Vialetto-Van Laere syndrome 12Oct 25, 2018
Carnitine palmitoyltransferase II deficiency, infantile1Oct 25, 2018
Ceroid lipofuscinosis neuronal 21Oct 25, 2018
Charcot-Marie-Tooth disease, type 4B11Oct 25, 2018
Charlevoix-Saguenay spastic ataxia4Oct 25, 2018
Chédiak-Higashi syndrome1Oct 25, 2018
Citrullinemia type I1Oct 25, 2018
Classic homocystinuria1Oct 25, 2018
Cohen syndrome1Oct 25, 2018
Combined oxidative phosphorylation deficiency 211Oct 25, 2018
Combined oxidative phosphorylation deficiency 81Oct 25, 2018
Congenital adrenal hypoplasia, X-linked1Oct 25, 2018
Congenital generalized lipodystrophy type 23Oct 25, 2018
Congenital myasthenic syndrome 4C1Oct 25, 2018
Congenital myotonia, autosomal recessive form1Oct 25, 2018
Creatine transporter deficiency1Oct 25, 2018
Cutis laxa with osteodystrophy2Oct 25, 2018
Cystic fibrosis6Oct 25, 2018
Deafness, autosomal recessive 32Oct 25, 2018
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Oct 25, 2018
Deficiency of alpha-mannosidase1Oct 25, 2018
Deficiency of iodide peroxidase2Oct 25, 2018
Dihydropteridine reductase deficiency1Oct 25, 2018
Distal spinal muscular atrophy, autosomal recessive 21Oct 25, 2018
Eichsfeld type congenital muscular dystrophy1Oct 25, 2018
Enhanced S-cone syndrome1Oct 25, 2018
Epilepsy, progressive myoclonic 31Oct 25, 2018
Familial hemophagocytic lymphohistiocytosis 25Oct 25, 2018
Familial hypercholesterolemia 11Oct 25, 2018
Familial mediterranean fever, autosomal dominant1Oct 25, 2018
Fragile X syndrome1Oct 25, 2018
Fragile X tremor/ataxia syndrome1Oct 25, 2018
Fumarase deficiency1Oct 25, 2018
Galactosylceramide beta-galactosidase deficiency1Oct 25, 2018
Geroderma osteodysplastica1Oct 25, 2018
Giant axonal neuropathy 11Oct 25, 2018
Glaucoma 3, primary congenital, A4Oct 25, 2018
Glucose-6-phosphate transport defect1Oct 25, 2018
Glutaric aciduria, type 12Oct 25, 2018
Glycogen storage disease IXc1Oct 25, 2018
Glycogen storage disease type III1Oct 25, 2018
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1Oct 25, 2018
Grebe syndrome1Oct 25, 2018
Hereditary pancreatitis3Oct 25, 2018
Hermansky-Pudlak syndrome 61Oct 25, 2018
Hyaline fibromatosis syndrome1Oct 25, 2018
Hyperekplexia 11Oct 25, 2018
Hypoparathyroidism-retardation-dysmorphism syndrome1Oct 25, 2018
Hypothyroidism, congenital, nongoitrous, 11Oct 25, 2018
Idiopathic nephrotic syndrome2Oct 25, 2018
Infantile convulsions and choreoathetosis1Oct 25, 2018
Infantile neuroaxonal dystrophy1Oct 25, 2018
Isolated sulfite oxidase deficiency1Oct 25, 2018
Isovaleryl-CoA dehydrogenase deficiency3Oct 25, 2018
Joubert syndrome 161Oct 25, 2018
Kindler syndrome2Oct 25, 2018
Kniest dysplasia1Oct 25, 2018
Knobloch syndrome 11Oct 25, 2018
Lafora disease1Oct 25, 2018
Leber congenital amaurosis 12Oct 25, 2018
Leber congenital amaurosis 21Oct 25, 2018
Lethal Kniest-like syndrome1Oct 25, 2018
Leukodystrophy, hypomyelinating, 101Oct 25, 2018
Lipodystrophy, congenital generalized, type 41Oct 25, 2018
Maple syrup urine disease7Oct 25, 2018
Marfan syndrome1Oct 25, 2018
Meckel syndrome, type 31Oct 25, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Oct 25, 2018
Mental retardation, X-linked 931Oct 25, 2018
Mental retardation, autosomal dominant 241Oct 25, 2018
Mental retardation, autosomal recessive 491Oct 25, 2018
Merosin deficient congenital muscular dystrophy2Oct 25, 2018
Metachromatic leukodystrophy1Oct 25, 2018
Microcephaly, normal intelligence and immunodeficiency1Oct 25, 2018
Microphthalmia, isolated 51Oct 25, 2018
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1Oct 25, 2018
Mitochondrial complex I deficiency, nuclear type 11Oct 25, 2018
Mitochondrial complex IV deficiency1Oct 25, 2018
Mucolipidosis type IV1Oct 25, 2018
Mucopolysaccharidosis type 61Oct 25, 2018
Mucopolysaccharidosis, MPS-III-B2Oct 25, 2018
Mucopolysaccharidosis, MPS-IV-A1Oct 25, 2018
Mulibrey nanism syndrome1Oct 25, 2018
Multiple acyl-CoA dehydrogenase deficiency1Oct 25, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 21Oct 25, 2018
Multiple endocrine neoplasia, type 2a1Oct 25, 2018
Navajo neurohepatopathy1Oct 25, 2018
Nemaline myopathy 21Oct 25, 2018
Netherton syndrome1Oct 25, 2018
Neurodegeneration with brain iron accumulation 2b2Oct 25, 2018
Neuronal ceroid lipofuscinosis 51Oct 25, 2018
Neuronal ceroid lipofuscinosis 61Oct 25, 2018
Neutropenia, severe congenital 1, autosomal dominant1Oct 25, 2018
Nicolaides-Baraitser syndrome1Oct 25, 2018
Niemann-Pick disease type C11Oct 25, 2018
Nijmegen breakage syndrome-like disorder1Oct 25, 2018
Non-acquired combined pituitary hormone deficiency with spine abnormalities1Oct 25, 2018
Non-ketotic hyperglycinemia4Oct 25, 2018
Papillon-Lefèvre syndrome1Oct 25, 2018
Parkinsonism with spasticity, X-linked1Oct 25, 2018
Paroxysmal nonkinesigenic dyskinesia 11Oct 25, 2018
Pelizaeus-Merzbacher disease1Oct 25, 2018
Polycystic kidney disease, adult type1Oct 25, 2018
Polyglandular autoimmune syndrome, type 11Oct 25, 2018
Premature ovarian failure 11Oct 25, 2018
Primary hyperoxaluria, type I2Oct 25, 2018
Progressive familial intrahepatic cholestasis 22Oct 25, 2018
Progressive sclerosing poliodystrophy1Oct 25, 2018
Propionic acidemia2Oct 25, 2018
Pyknodysostosis2Oct 25, 2018
Pyridoxine-dependent epilepsy1Oct 25, 2018
Rajab interstitial lung disease with brain calcifications1Jul 29, 2018
Recessive dystrophic epidermolysis bullosa1Oct 25, 2018
Renal tubular acidosis, distal, with hemolytic anemia1Oct 25, 2018
Retinitis pigmentosa 271Oct 25, 2018
Robinow syndrome, autosomal recessive2Oct 25, 2018
Sandhoff disease1Oct 25, 2018
Schwartz-Jampel syndrome1Oct 25, 2018
Senior-Loken syndrome 81Oct 25, 2018
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1Oct 25, 2018
Sjögren-Larsson syndrome1Oct 25, 2018
Spastic paraplegia 352Oct 25, 2018
Spastic paraplegia 54, autosomal recessive1Oct 25, 2018
Spinal muscular atrophy, distal, autosomal recessive, 51Oct 25, 2018
Split-hand/foot malformation 61Oct 25, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations1Oct 25, 2018
Stargardt disease 11Oct 25, 2018
Steinert myotonic dystrophy syndrome1Oct 25, 2018
TNF receptor-associated periodic fever syndrome (TRAPS)2Oct 25, 2018
Tay-Sachs disease, variant AB1Oct 25, 2018
Thanatophoric dysplasia type 11Oct 25, 2018
Three M syndrome 12Oct 25, 2018
Thrombophilia due to thrombin defect1Oct 25, 2018
Thyroid hormone resistance, generalized, autosomal recessive1Oct 25, 2018
Troyer syndrome1Oct 25, 2018
Tyrosinemia type I2Oct 25, 2018
Unverricht-Lundborg syndrome1Oct 25, 2018
Usher syndrome type 11Oct 25, 2018
Van Maldergem syndrome 21Oct 25, 2018
Vascular malformation, primary intraosseous1Oct 25, 2018
Very long chain acyl-CoA dehydrogenase deficiency1Oct 25, 2018
Vici syndrome2Oct 25, 2018
Vitelliform macular dystrophy type 21Oct 25, 2018
Warburg micro syndrome 13Oct 25, 2018
Wilson disease1Oct 25, 2018
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