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Clinical Laboratory Sciences Program (CLSP) (King Saud bin Abdulaziz University for Health Sciences (KSAU-HS))

General information

Clinical Laboratory Sciences Program (CLSP)
King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
Riyadh
Saudi Arabia - P.O. BOX 3660

Organization ID: 508930

Personnel

  • Raniah Alotibi, Principal Investigator
    Phone: +966114299999 Ext. 99625
    Email: [email protected]

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 207

    Gene

    GeneSubmissionsLast Updated
    ABCA31May 30, 2023
    ABCC21May 30, 2023
    ABHD14A-ACY11May 30, 2023
    ACY11May 30, 2023
    AIRE2May 30, 2023
    ALDH7A11May 30, 2023
    ALKBH81May 30, 2023
    ANKRD111May 30, 2023
    ANTXR21May 30, 2023
    AP3B11May 30, 2023
    ASH1L1May 22, 2023
    ASL1May 30, 2023
    ASPM1May 30, 2023
    ASXL31May 30, 2023
    ATM1May 30, 2023
    ATP7B1May 30, 2023
    BBS102May 30, 2023
    BCKDHB1May 30, 2023
    BRCA12May 30, 2023
    BRCA23May 30, 2023
    BRWD31Jan 29, 2023
    BTK1May 30, 2023
    C11orf651May 30, 2023
    C12orf571May 30, 2023
    C31May 30, 2023
    CAPN31May 30, 2023
    CBS2May 30, 2023
    CC2D2A1May 30, 2023
    CCN61May 30, 2023
    CD1511Jul 10, 2023
    CDK101May 30, 2023
    CDKL51Jan 29, 2023
    CHD72May 30, 2023
    CLCN21May 30, 2023
    COL11A21May 30, 2023
    COL1A14May 30, 2023
    COL6A21May 30, 2023
    COLEC111May 30, 2023
    COQ8A2May 30, 2023
    CREBBP1May 30, 2023
    CSF1R1May 30, 2023
    CYP11B11May 30, 2023
    CYP1B11May 30, 2023
    CYP21A21May 30, 2023
    DDC1May 30, 2023
    DDX3X1May 30, 2023
    DEPDC51May 30, 2023
    DMD1May 30, 2023
    DNAJC121May 30, 2023
    DPYS1May 30, 2023
    DSG11May 30, 2023
    DYM1May 30, 2023
    EDA1May 30, 2023
    EP3001May 30, 2023
    ESCO21May 30, 2023
    EXT21May 30, 2023
    F71May 30, 2023
    FAM20A1May 30, 2023
    FBN12May 30, 2023
    FGFR34May 30, 2023
    FKBP101May 30, 2023
    FLNA1Jan 29, 2023
    G6PD3May 30, 2023
    GALC1May 30, 2023
    GALNS1May 30, 2023
    GALT3May 30, 2023
    GBA11May 30, 2023
    GDF51May 30, 2023
    GDF5-AS11May 30, 2023
    GML1May 30, 2023
    GNPAT1May 30, 2023
    GNPTAB1May 30, 2023
    GORAB1May 30, 2023
    GP91May 30, 2023
    HEXB1May 30, 2023
    HNF1B1May 30, 2023
    HSD17B41May 30, 2023
    IFT1221May 22, 2023
    IFT571May 22, 2023
    IGF1R1May 22, 2023
    ISCA21May 30, 2023
    KAT6B1Jan 29, 2023
    KCNQ12May 30, 2023
    KCNQ21May 30, 2023
    KIF71May 30, 2023
    L1CAM1May 30, 2023
    LIFR1May 30, 2023
    LMNA1May 30, 2023
    LOC1066279811May 30, 2023
    LOC1067808001May 30, 2023
    LOC1067998331May 30, 2023
    LOC1073033401May 30, 2023
    LOC1079880321Jan 29, 2023
    LOC1268612421May 30, 2023
    LOC1268616151May 30, 2023
    LOC1268625861May 30, 2023
    LOC1268631581May 30, 2023
    LOC1287722541May 30, 2023
    LOC1299315971May 30, 2023
    LOC1300013971May 30, 2023
    LOC1300016831May 30, 2023
    MAPK8IP31May 22, 2023
    MAT1A1May 30, 2023
    MCCC21May 30, 2023
    MECP22May 30, 2023
    MFN21May 30, 2023
    MMUT2May 30, 2023
    MTMR21May 30, 2023
    MYO5B1May 30, 2023
    MYO7A1May 30, 2023
    NAA151May 30, 2023
    NDUFV11May 30, 2023
    NEB1May 22, 2023
    NF14May 30, 2023
    NFIX1May 30, 2023
    NKX6-21May 30, 2023
    NOTCH11May 30, 2023
    NOTCH31May 30, 2023
    NPHS11May 30, 2023
    NPHS21May 30, 2023
    NSD11May 30, 2023
    OTC1May 30, 2023
    P4HTM1May 30, 2023
    PACS11May 30, 2023
    PAH4May 30, 2023
    PCCA1May 30, 2023
    PCCB2May 30, 2023
    PCNT1May 30, 2023
    PDHA11May 30, 2023
    PGAP31May 30, 2023
    PIEZO21May 30, 2023
    PKD21May 22, 2023
    PLA2G61May 30, 2023
    PLK41May 30, 2023
    POGZ1May 30, 2023
    POLG2May 22, 2023
    POLGARF2May 22, 2023
    POLR3A1May 30, 2023
    POMGNT11May 30, 2023
    PREPL1May 30, 2023
    PRF11May 30, 2023
    PRKAR1A1May 30, 2023
    PRODH1May 30, 2023
    PSTPIP11May 30, 2023
    PTF1A1May 30, 2023
    RETREG11May 30, 2023
    RIF11May 22, 2023
    RPGRIP11May 30, 2023
    SCNN1A1May 22, 2023
    SCNN1B1May 30, 2023
    SERAC11May 30, 2023
    SHANK31May 30, 2023
    SIL11May 30, 2023
    SLC12A11May 30, 2023
    SLC25A421May 30, 2023
    SLC39A41May 30, 2023
    SOX91May 30, 2023
    SP71May 30, 2023
    SPART1May 30, 2023
    SPR2May 22, 2023
    SPTAN11May 30, 2023
    SPTB1May 30, 2023
    SRD5A21May 30, 2023
    STAT11May 30, 2023
    TBCE1May 30, 2023
    TBCK1May 30, 2023
    TCF121Jan 29, 2023
    TCOF11May 30, 2023
    TMC11May 30, 2023
    TMEM106B1May 30, 2023
    TNNI32May 30, 2023
    TRIO3May 30, 2023
    TRIP121May 30, 2023
    TSC11May 30, 2023
    TSPAN11May 30, 2023
    TTC51May 22, 2023
    TTN1May 30, 2023
    TTN-AS11May 30, 2023
    TUSC31May 30, 2023
    TWIST11May 22, 2023
    UGT1A1May 22, 2023
    UGT1A11May 22, 2023
    UGT1A101May 22, 2023
    UGT1A31May 22, 2023
    UGT1A41May 22, 2023
    UGT1A51May 22, 2023
    UGT1A61May 22, 2023
    UGT1A71May 22, 2023
    UGT1A81May 22, 2023
    UGT1A91May 22, 2023
    USP9X1Jan 29, 2023
    VAX11May 22, 2023
    VHL1May 30, 2023
    VWA81Jan 29, 2023
    WARS11Jan 29, 2023
    WDR351May 30, 2023
    WDR41May 30, 2023
    WDR45B1May 30, 2023
    WNK11May 22, 2023
    WWOX1Jan 29, 2023
    ZBTB181Jan 29, 2023
    ZMIZ11May 30, 2023
    ZMYND111May 30, 2023
    ZNF1421May 22, 2023

    Condition

    NameSubmissionsLast Updated
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1May 30, 2023
    3-methylcrotonyl-CoA carboxylase 2 deficiency1May 30, 2023
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1May 30, 2023
    3MC syndrome 21May 30, 2023
    Achondroplasia1May 30, 2023
    Acrocallosal syndrome1May 30, 2023
    Adams-Oliver syndrome 51May 30, 2023
    Al Kaissi syndrome1May 30, 2023
    Amelogenesis imperfecta type 1G1May 30, 2023
    Aminoacylase 1 deficiency1May 30, 2023
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency3May 30, 2023
    Argininosuccinate lyase deficiency1May 30, 2023
    Arthrogryposis, distal, with impaired proprioception and touch1May 30, 2023
    Ataxia-telangiectasia syndrome1May 30, 2023
    Atypical hemolytic-uremic syndrome with C3 anomaly1May 30, 2023
    Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1May 30, 2023
    Autosomal dominant nonsyndromic hearing loss 131May 30, 2023
    Autosomal recessive ataxia due to ubiquinone deficiency2May 30, 2023
    Autosomal recessive limb-girdle muscular dystrophy type 2A1May 30, 2023
    Autosomal recessive limb-girdle muscular dystrophy type 2O1May 30, 2023
    Autosomal recessive nonsyndromic hearing loss 21May 30, 2023
    Autosomal recessive nonsyndromic hearing loss 71May 30, 2023
    Bardet-Biedl syndrome 102May 30, 2023
    Bartter disease type 11May 30, 2023
    Bernard Soulier syndrome1May 30, 2023
    Bethlem myopathy 1A1May 30, 2023
    Bifunctional peroxisomal enzyme deficiency1May 30, 2023
    Breast-ovarian cancer, familial, susceptibility to, 12May 30, 2023
    Breast-ovarian cancer, familial, susceptibility to, 22May 30, 2023
    Bronchiectasis with or without elevated sweat chloride 21May 22, 2023
    CHARGE syndrome2May 30, 2023
    Camptomelic dysplasia1May 30, 2023
    Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11May 30, 2023
    Charcot-Marie-Tooth disease type 2A21May 30, 2023
    Charcot-Marie-Tooth disease type 4B11May 30, 2023
    Chuvash polycythemia1May 30, 2023
    Clark-Baraitser syndrome1May 30, 2023
    Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1May 30, 2023
    Classic homocystinuria2May 30, 2023
    Congenital factor VII deficiency1May 30, 2023
    Congenital microvillous atrophy1May 30, 2023
    Congenital muscular dystrophy due to LMNA mutation1May 30, 2023
    Cranioectodermal dysplasia 11May 22, 2023
    Crigler-Najjar syndrome, type II1May 22, 2023
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3May 30, 2023
    Deficiency of aromatic-L-amino-acid decarboxylase1May 30, 2023
    Deficiency of steroid 11-beta-monooxygenase1May 30, 2023
    Developmental and epileptic encephalopathy, 51May 30, 2023
    Developmental and epileptic encephalopathy, 71May 30, 2023
    Developmental delay12Jan 29, 2023
    Dihydropyrimidinase deficiency1May 30, 2023
    Dilated cardiomyopathy 1G1May 30, 2023
    Dopa-responsive dystonia due to sepiapterin reductase deficiency2May 22, 2023
    Dubin-Johnson syndrome1May 30, 2023
    Duchenne muscular dystrophy1May 30, 2023
    Dyggve-Melchior-Clausen syndrome1May 30, 2023
    Epidermolysis bullosa simplex 7, with nephropathy and deafness1Jul 10, 2023
    Epilepsy, familial focal, with variable foci 11May 30, 2023
    Epilepsy, idiopathic generalized, susceptibility to, 111May 30, 2023
    Exostoses, multiple, type 21May 30, 2023
    Familial hemophagocytic lymphohistiocytosis 21May 30, 2023
    Fanconi anemia complementation group D11May 30, 2023
    Finnish congenital nephrotic syndrome1May 30, 2023
    Galactosylceramide beta-galactosidase deficiency1May 30, 2023
    Galloway-Mowat syndrome 61May 30, 2023
    Gaucher disease type III1May 30, 2023
    Geroderma osteodysplastica1May 30, 2023
    Glaucoma 3A1May 30, 2023
    Grebe syndrome1May 30, 2023
    Growth delay due to insulin-like growth factor I resistance1May 22, 2023
    Hepatic methionine adenosyltransferase deficiency1May 30, 2023
    Hereditary acrodermatitis enteropathica1May 30, 2023
    Hereditary spherocytosis type 21May 30, 2023
    Hermansky-Pudlak syndrome 21May 30, 2023
    Hyaline fibromatosis syndrome1May 30, 2023
    Hyperphenylalaninemia due to DNAJC12 deficiency1May 30, 2023
    Hyperphosphatasia with intellectual disability syndrome 41May 30, 2023
    Hypertrophic cardiomyopathy 72May 30, 2023
    Hypochondroplasia1May 30, 2023
    Hypohidrotic X-linked ectodermal dysplasia1May 30, 2023
    Hypoparathyroidism-retardation-dysmorphism syndrome1May 30, 2023
    Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities1May 30, 2023
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 31May 30, 2023
    Intellectual developmental disorder, autosomal recessive 711May 30, 2023
    Intellectual disability, X-linked 1021May 30, 2023
    Intellectual disability, autosomal dominant 301May 30, 2023
    Intellectual disability, autosomal dominant 501May 30, 2023
    Intellectual disability, autosomal dominant 521May 22, 2023
    Intellectual disability, autosomal recessive 71May 30, 2023
    Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1May 30, 2023
    Interstitial lung disease due to ABCA3 deficiency1May 30, 2023
    Joubert syndrome 91May 30, 2023
    KBG syndrome1May 30, 2023
    Leber congenital amaurosis 61May 30, 2023
    Leukodystrophy, hypomyelinating, 161May 30, 2023
    Leukoencephalopathy, diffuse hereditary, with spheroids 11May 30, 2023
    Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1May 30, 2023
    Long QT syndrome 12May 30, 2023
    Maple syrup urine disease1May 30, 2023
    Marfan syndrome2May 30, 2023
    Marinesco-Sjögren syndrome1May 30, 2023
    Marshall-Smith syndrome1May 30, 2023
    Menke-Hennekam syndrome 21May 30, 2023
    Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1May 30, 2023
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2May 30, 2023
    Microcephalic osteodysplastic primordial dwarfism type II1May 30, 2023
    Microcephaly 5, primary, autosomal recessive1May 30, 2023
    Microcephaly and chorioretinopathy 21May 30, 2023
    Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1May 30, 2023
    Microphthalmia, syndromic 111May 22, 2023
    Mitochondrial DNA depletion syndrome 4b2May 22, 2023
    Mitochondrial complex 1 deficiency, nuclear type 41May 30, 2023
    Mucopolysaccharidosis, MPS-IV-A1May 30, 2023
    Muenke syndrome1May 30, 2023
    Multiple mitochondrial dysfunctions syndrome 41May 30, 2023
    Myasthenic syndrome, congenital, 221May 30, 2023
    Nemaline myopathy 21May 22, 2023
    Nephrotic syndrome, type 21May 30, 2023
    Neurodegeneration with brain iron accumulation 2B1May 30, 2023
    Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism1May 22, 2023
    Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1May 30, 2023
    Neurodevelopmental disorder with impaired speech and hyperkinetic movements1May 22, 2023
    Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1May 22, 2023
    Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1May 30, 2023
    Neurofibromatosis, type 14May 30, 2023
    Neuropathy, hereditary sensory and autonomic, type 2A1May 22, 2023
    Neuropathy, hereditary sensory and autonomic, type 2B1May 30, 2023
    Ornithine carbamoyltransferase deficiency1May 30, 2023
    Orofaciodigital syndrome 181May 22, 2023
    Osteogenesis imperfecta type 111May 30, 2023
    Osteogenesis imperfecta type 121May 30, 2023
    Osteogenesis imperfecta type III1May 30, 2023
    Osteogenesis imperfecta with normal sclerae, dominant form3May 30, 2023
    Palmoplantar keratoderma i, striate, focal, or diffuse1May 30, 2023
    Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome1May 30, 2023
    Phelan-McDermid syndrome1May 30, 2023
    Phenylketonuria4May 30, 2023
    Polycystic kidney disease 21May 22, 2023
    Polyglandular autoimmune syndrome, type 12May 30, 2023
    Progressive pseudorheumatoid dysplasia1May 30, 2023
    Proline dehydrogenase deficiency1May 30, 2023
    Propionic acidemia3May 30, 2023
    Pseudo-Hurler polydystrophy1May 30, 2023
    Pseudohypoaldosteronism, type IB2, autosomal recessive1May 30, 2023
    Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1May 30, 2023
    Pyridoxine-dependent epilepsy1May 30, 2023
    Pyruvate dehydrogenase E1-alpha deficiency1May 30, 2023
    Renal cysts and diabetes syndrome1May 30, 2023
    Rett syndrome2May 30, 2023
    Rhizomelic chondrodysplasia punctata type 21May 30, 2023
    Roberts-SC phocomelia syndrome1May 30, 2023
    Rubinstein-Taybi syndrome due to CREBBP mutations1May 30, 2023
    Sandhoff disease1May 30, 2023
    Schuurs-Hoeijmakers syndrome1May 30, 2023
    Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1May 30, 2023
    Short-rib thoracic dysplasia 7 with or without polydactyly1May 30, 2023
    Sotos syndrome1May 30, 2023
    Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1May 30, 2023
    Stüve-Wiedemann syndrome 11May 30, 2023
    TWIST1-related craniosynostosis1May 22, 2023
    Temtamy syndrome1May 30, 2023
    Thanatophoric dysplasia type 11May 30, 2023
    Treacher Collins syndrome 11May 30, 2023
    Troyer syndrome1May 30, 2023
    Tuberous sclerosis 11May 30, 2023
    Wilson disease1May 30, 2023
    X-linked agammaglobulinemia1May 30, 2023
    X-linked hydrocephalus syndrome1May 30, 2023