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Pathology and Clinical Laboratory Medicine (King Fahad Medical City), KFMC

General information

Pathology and Clinical Laboratory Medicine, KFMC
King Fahad Medical City
As Sulimaniyah
Riyadh
Saudi Arabia - 12273
https://www.kfmc.med.sa/
Organization ID: 506801

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 240

Gene

GeneSubmissionsLast Updated
AAAS1Jun 18, 2019
ABCB111May 26, 2020
ABCB42May 26, 2020
ACADVL1May 26, 2020
ADA1Feb 2, 2022
ADAMTSL25May 26, 2020
ADAT31Jun 18, 2019
ALS21Feb 2, 2022
ANTXR24May 26, 2020
AP4M12May 26, 2020
APC1Feb 2, 2022
ARSA3Feb 2, 2022
ASS11Feb 2, 2022
BCKDHB1May 26, 2020
BIVM-ERCC51Feb 2, 2022
C4A6May 26, 2020
C4B2May 26, 2020
CAVIN11May 26, 2020
CC2D2A6May 26, 2020
CCBE11Feb 2, 2022
CEP1351May 26, 2020
CEP2907May 26, 2020
CLN51May 26, 2020
CNTNAP21May 26, 2020
COL13A11May 26, 2020
COL18A11May 26, 2020
COL1A11May 26, 2020
COL7A14May 26, 2020
CTBP21Feb 2, 2022
CTSK3May 26, 2020
DONSON1May 26, 2020
ECEL12May 26, 2020
ENTREP21May 26, 2020
ERCC51Feb 2, 2022
FBP11May 26, 2020
FBXL31May 26, 2020
FBXL41Feb 2, 2022
FMN21May 26, 2020
FRG2C7May 26, 2020
FRRS1L2Feb 2, 2022
G6PC11Jun 18, 2019
GAA2May 26, 2020
GALC1Jun 18, 2019
GALNS1May 26, 2020
GALNT102May 26, 2020
GCDH1Jun 18, 2019
GJC23Feb 2, 2022
GUSB2Feb 2, 2022
HADHB1Feb 2, 2022
HFE1May 26, 2020
HFE-AS11May 26, 2020
HLCS1Feb 2, 2022
HMGCL1Jun 18, 2019
HSPG24Feb 2, 2022
HYDIN3May 26, 2020
ICA12May 26, 2020
IDUA3Feb 2, 2022
IL7R2May 26, 2020
ISCA21Jun 18, 2019
JAM31Feb 2, 2022
KIF71May 26, 2020
KIR2DL41Feb 2, 2022
KIR3DL31Feb 2, 2022
LAMA21Jun 18, 2019
LAMB22Feb 2, 2022
LOC1086639961Feb 2, 2022
LOC1106314171May 26, 2020
LOC1217251101May 26, 2020
MAP71Feb 2, 2022
MBD11Feb 2, 2022
MCM61May 26, 2020
MEFV1Feb 2, 2022
MFF1May 26, 2020
MICU11May 26, 2020
MKS11Feb 2, 2022
MMADHC1May 26, 2020
MMUT6May 26, 2020
MPDZ1May 26, 2020
MPV171Jun 18, 2019
MYO7A2May 26, 2020
NBN1Feb 2, 2022
NCAPH21May 26, 2020
NDUFAF51Feb 2, 2022
NLRC51May 26, 2020
NPC12Feb 2, 2022
P3H12May 26, 2020
PAH1May 26, 2020
PARS21Feb 2, 2022
PC3Feb 2, 2022
PCCA2May 26, 2020
PCNT2May 26, 2020
PEX11Feb 2, 2022
PEX161Feb 2, 2022
PGAP31May 26, 2020
PIEZO23Feb 2, 2022
PIK3CD1May 26, 2020
PIK3CD-AS11May 26, 2020
PKHD11Feb 2, 2022
PNP2Feb 2, 2022
POC1A1Feb 2, 2022
POLR3A1May 26, 2020
POMK1Feb 2, 2022
POMT13Feb 2, 2022
PSAP1Jun 18, 2019
PTS3May 26, 2020
PYCR21Feb 2, 2022
PYGL1Jun 18, 2019
QDPR1May 26, 2020
RAB3GAP21May 26, 2020
RFXANK3May 26, 2020
RNASEH2B1May 26, 2020
ROBO31Feb 2, 2022
RRM2B2May 26, 2020
SCAMP41Jun 18, 2019
SCO21May 26, 2020
SERAC13May 26, 2020
SETX1May 26, 2020
SGCA1Feb 2, 2022
SLC12A32Feb 2, 2022
SLC19A11May 26, 2020
SLC19A31Jun 18, 2019
SLC25A201Jun 18, 2019
SLC25A421Feb 2, 2022
SLC26A11Feb 2, 2022
SLC26A31Jun 18, 2019
SLC27A32May 26, 2020
SLC29A31May 26, 2020
SLC2A21May 26, 2020
SMN11May 26, 2020
SMN21May 26, 2020
SMPD12Jun 18, 2019
SPART1Feb 2, 2022
STAC31Feb 2, 2022
SUCLA21Feb 2, 2022
SUOX1May 26, 2020
TBCE1Jun 18, 2019
TBP1Feb 2, 2022
TCTN23May 26, 2020
TMEM2311Feb 2, 2022
TMEM2361May 26, 2020
TYR1Jun 18, 2019
UNC803Feb 2, 2022
VPS13B1Jun 18, 2019
VPS33B1Feb 2, 2022
WWOX5Feb 2, 2022
XIRP11Feb 2, 2022
XRCC21May 26, 2020
XRCC41May 26, 2020
ZNF261May 26, 2020
ZNF842May 26, 2020

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome3May 26, 2020
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency3May 26, 2020
Acrocallosal syndrome1May 26, 2020
Aicardi-Goutieres syndrome 21May 26, 2020
Amyotrophic lateral sclerosis type 2, juvenile1Feb 2, 2022
Arthrogryposis, distal, with impaired proprioception and touch3Feb 2, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D1Feb 2, 2022
Bailey-Bloch congenital myopathy1Feb 2, 2022
Biotin-responsive basal ganglia disease1Jun 18, 2019
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11May 26, 2020
Carnitine acylcarnitine translocase deficiency1Jun 18, 2019
Cerebrooculofacioskeletal syndrome 31Feb 2, 2022
Citrullinemia type I1Feb 2, 2022
Cohen syndrome1Jun 18, 2019
Congenital generalized lipodystrophy type 41May 26, 2020
Congenital myasthenic syndrome 191May 26, 2020
Congenital secretory diarrhea, chloride type1Jun 18, 2019
Deficiency of hydroxymethylglutaryl-CoA lyase1Jun 18, 2019
Developmental and epileptic encephalopathy, 285Feb 2, 2022
Developmental and epileptic encephalopathy, 371May 26, 2020
Developmental and epileptic encephalopathy, 751Feb 2, 2022
Dihydropteridine reductase deficiency1May 26, 2020
Distal arthrogryposis type 5D2May 26, 2020
Familial hypokalemia-hypomagnesemia2Feb 2, 2022
Fanconi-Bickel syndrome1May 26, 2020
Fructose-biphosphatase deficiency1May 26, 2020
Galactosylceramide beta-galactosidase deficiency1Jun 18, 2019
Gaze palsy, familial horizontal, with progressive scoliosis 11Feb 2, 2022
Glucocorticoid deficiency with achalasia1Jun 18, 2019
Glutaric aciduria, type 11Jun 18, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Jun 18, 2019
Glycogen storage disease, type II2May 26, 2020
Glycogen storage disease, type VI1Jun 18, 2019
Hereditary spastic paraplegia 502May 26, 2020
Holocarboxylase synthetase deficiency1Feb 2, 2022
Hurler syndrome3Feb 2, 2022
Hyaline fibromatosis syndrome4May 26, 2020
Hydrocephalus, nonsyndromic, autosomal recessive 21May 26, 2020
Hyperphosphatasia with intellectual disability syndrome 41May 26, 2020
Hypomyelinating leukodystrophy 101Feb 2, 2022
Hypomyelinating leukodystrophy 23Feb 2, 2022
Hypoparathyroidism-retardation-dysmorphism syndrome1Jun 18, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 23Feb 2, 2022
Intellectual disability, autosomal recessive 471May 26, 2020
Intellectual disability-strabismus syndrome1Jun 18, 2019
Joubert syndrome 53May 26, 2020
LAMB2-related infantile-onset nephrotic syndrome1Feb 2, 2022
Lethal Kniest-like syndrome1Feb 2, 2022
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1May 26, 2020
Limb-girdle muscular dystrophy due to POMK deficiency1Feb 2, 2022
MHC class II deficiency3May 26, 2020
Maple syrup urine disease1May 26, 2020
Meckel syndrome, type 11Feb 2, 2022
Meckel syndrome, type 111Feb 2, 2022
Meckel syndrome, type 41May 26, 2020
Meckel syndrome, type 612May 26, 2020
Merosin deficient congenital muscular dystrophy1Jun 18, 2019
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1Feb 2, 2022
Metachromatic leukodystrophy3Feb 2, 2022
Methylmalonic aciduria and homocystinuria type cblD1May 26, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency6May 26, 2020
Microcephalic osteodysplastic primordial dwarfism type II2May 26, 2020
Microcephaly 8, primary, autosomal recessive1May 26, 2020
Microcephaly, normal intelligence and immunodeficiency1Feb 2, 2022
Microcephaly-micromelia syndrome1May 26, 2020
Mitochondrial DNA depletion syndrome 131Feb 2, 2022
Mitochondrial DNA depletion syndrome 8a2May 26, 2020
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Feb 2, 2022
Mitochondrial complex 1 deficiency, nuclear type 161Feb 2, 2022
Mitochondrial trifunctional protein deficiency1Feb 2, 2022
Mucopolysaccharidosis type 72Feb 2, 2022
Mucopolysaccharidosis, MPS-IV-A1May 26, 2020
Multiple mitochondrial dysfunctions syndrome 41Jun 18, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13Feb 2, 2022
Navajo neurohepatopathy1Jun 18, 2019
Neuronal ceroid lipofuscinosis 51May 26, 2020
Niemann-Pick disease, type A1Jun 18, 2019
Niemann-Pick disease, type B1Jun 18, 2019
Niemann-Pick disease, type C12Feb 2, 2022
Osteogenesis imperfecta type 82May 26, 2020
Osteogenesis imperfecta type III1May 26, 2020
Osteogenesis imperfecta with normal sclerae, dominant form1May 26, 2020
Peroxisome biogenesis disorder 8A (Zellweger)1Feb 2, 2022
Phenylketonuria1May 26, 2020
Pierson syndrome1May 26, 2020
Polycystic kidney disease 41Feb 2, 2022
Porencephaly-microcephaly-bilateral congenital cataract syndrome1Feb 2, 2022
Progressive familial intrahepatic cholestasis type 33May 26, 2020
Propionic acidemia2May 26, 2020
Proximal myopathy with extrapyramidal signs1May 26, 2020
Purine-nucleoside phosphorylase deficiency2Feb 2, 2022
Pyknodysostosis3May 26, 2020
Pyruvate carboxylase deficiency3Feb 2, 2022
Recessive dystrophic epidermolysis bullosa4May 26, 2020
Schwartz-Jampel syndrome2May 26, 2020
Schwartz-Jampel syndrome type 11Feb 2, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1Feb 2, 2022
Short stature, microcephaly, and endocrine dysfunction2May 26, 2020
Sphingolipid activator protein 1 deficiency1Jun 18, 2019
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21May 26, 2020
Sulfite oxidase deficiency1May 26, 2020
Troyer syndrome1Feb 2, 2022
Tyrosinase-negative oculocutaneous albinism1Jun 18, 2019
Very long chain acyl-CoA dehydrogenase deficiency1May 26, 2020
Warburg micro syndrome 21May 26, 2020
not specified71Feb 2, 2022
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