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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

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 219

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
APC1Jul 1, 2025
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
CDKN1B1Jul 1, 2025
CHD72May 30, 2023
CLCN21May 30, 2023
COL11A21May 30, 2023
COL1A14May 30, 2023
COL6A21May 30, 2023
COLEC111May 30, 2023
COQ8A2May 30, 2023
CREBBP1May 30, 2023
CSDE11Jul 1, 2025
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
FBXL51May 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
KRAS2Jul 1, 2025
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
NRAS7Jul 1, 2025
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
PIK3CA1Jul 1, 2025
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
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia1May 30, 2023
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 homocystinuria2May 30, 2023
Colorectal cancer12Jul 1, 2025
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
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism1May 30, 2023
Leukoencephalopathy, diffuse hereditary, with spheroids 11May 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 I 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