ClinVar Miner

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

Location: Saudi Arabia  Primary collection method: clinical testing
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
116 66 22 3 0 207

Gene and significance breakdown #

Total genes and gene combinations: 176
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FGFR3 4 0 0 0 4
NF1 4 0 0 0 4
BRCA2 2 1 0 0 3
COL1A1 2 1 0 0 3
G6PD 2 1 0 0 3
PAH 3 0 0 0 3
TRIO 1 1 1 0 3
AIRE 0 2 0 0 2
BBS10 1 1 0 0 2
BRCA1 2 0 0 0 2
CBS 1 1 0 0 2
CHD7 2 0 0 0 2
COQ8A 0 2 0 0 2
FBN1 2 0 0 0 2
GALT 2 0 0 0 2
KCNQ1 2 0 0 0 2
MECP2 2 0 0 0 2
MMUT 2 0 0 0 2
PCCB 2 0 0 0 2
POLG, POLGARF 0 0 1 1 2
SPR 0 1 1 0 2
TNNI3 2 0 0 0 2
ABCA3 1 0 0 0 1
ABCC2 0 1 0 0 1
ABHD14A-ACY1, ACY1 1 0 0 0 1
ALDH7A1 1 0 0 0 1
ALKBH8 1 0 0 0 1
ANKRD11 1 0 0 0 1
ANTXR2 1 0 0 0 1
AP3B1 0 1 0 0 1
ASH1L 0 1 0 0 1
ASL 1 0 0 0 1
ASPM 1 0 0 0 1
ASXL3 0 1 0 0 1
ATM, C11orf65 1 0 0 0 1
ATP7B 1 0 0 0 1
BCKDHB 1 0 0 0 1
BRWD3 0 0 1 0 1
BTK 0 1 0 0 1
C12orf57 1 0 0 0 1
C3 0 0 1 0 1
CAPN3 0 1 0 0 1
CC2D2A 0 1 0 0 1
CCN6 0 1 0 0 1
CD151 1 0 0 0 1
CDK10 1 0 0 0 1
CDKL5 0 1 0 0 1
CLCN2 1 0 0 0 1
COL11A2 0 1 0 0 1
COL1A1, LOC126862586 1 0 0 0 1
COL6A2 1 0 0 0 1
COLEC11 1 0 0 0 1
CREBBP 1 0 0 0 1
CSF1R 0 1 0 0 1
CYP11B1, LOC106799833 1 0 0 0 1
CYP1B1, LOC128772254 1 0 0 0 1
CYP21A2, LOC106780800 0 1 0 0 1
DDC 0 1 0 0 1
DDX3X 1 0 0 0 1
DEPDC5 1 0 0 0 1
DMD 1 0 0 0 1
DNAJC12 1 0 0 0 1
DPYS 1 0 0 0 1
DSG1 1 0 0 0 1
DYM 1 0 0 0 1
EDA 1 0 0 0 1
EP300, LOC126863158 0 1 0 0 1
ESCO2 0 1 0 0 1
EXT2 1 0 0 0 1
F7 1 0 0 0 1
FAM20A, PRKAR1A 1 0 0 0 1
FKBP10 1 0 0 0 1
FLNA, LOC107988032 0 0 1 0 1
GALC 0 1 0 0 1
GALNS 0 1 0 0 1
GALT, LOC130001683 0 1 0 0 1
GBA1, LOC106627981 1 0 0 0 1
GDF5 0 1 0 0 1
GNPAT 0 0 1 0 1
GNPTAB 0 1 0 0 1
GORAB 0 1 0 0 1
GP9 0 1 0 0 1
HEXB 1 0 0 0 1
HNF1B 1 0 0 0 1
HSD17B4 1 0 0 0 1
IFT122 0 0 0 1 1
IFT57 0 0 1 0 1
IGF1R 0 0 1 0 1
ISCA2 1 0 0 0 1
KAT6B 0 0 1 0 1
KCNQ2 0 1 0 0 1
KIF7 0 1 0 0 1
L1CAM 1 0 0 0 1
LIFR 1 0 0 0 1
LMNA, LOC129931597 1 0 0 0 1
LOC107303340, VHL 0 1 0 0 1
LOC126861242, NDUFV1 1 0 0 0 1
LOC126861615, PAH 1 0 0 0 1
LOC130001397, SLC39A4 0 0 1 0 1
MAPK8IP3 0 0 1 0 1
MAT1A 0 1 0 0 1
MCCC2 0 0 1 0 1
MFN2 1 0 0 0 1
MTMR2 1 0 0 0 1
MYO5B 1 0 0 0 1
MYO7A 1 0 0 0 1
NAA15 1 0 0 0 1
NEB, RIF1 0 0 0 1 1
NFIX 0 1 0 0 1
NKX6-2 0 1 0 0 1
NOTCH1 0 1 0 0 1
NOTCH3 0 1 0 0 1
NPHS1 0 1 0 0 1
NPHS2 1 0 0 0 1
NSD1 0 1 0 0 1
OTC 1 0 0 0 1
P4HTM 0 1 0 0 1
PACS1 1 0 0 0 1
PCCA 1 0 0 0 1
PCNT 0 1 0 0 1
PDHA1 1 0 0 0 1
PGAP3 1 0 0 0 1
PIEZO2 0 1 0 0 1
PKD2 0 0 1 0 1
PLA2G6 0 1 0 0 1
PLK4 1 0 0 0 1
POGZ 1 0 0 0 1
POLR3A 0 1 0 0 1
POMGNT1, TSPAN1 1 0 0 0 1
PREPL 1 0 0 0 1
PRF1 1 0 0 0 1
PRODH 0 0 1 0 1
PSTPIP1 1 0 0 0 1
PTF1A 0 1 0 0 1
RETREG1 1 0 0 0 1
RPGRIP1 1 0 0 0 1
SCNN1A 0 0 1 0 1
SCNN1B 1 0 0 0 1
SERAC1 1 0 0 0 1
SHANK3 0 1 0 0 1
SIL1 1 0 0 0 1
SLC12A1 1 0 0 0 1
SLC25A42 1 0 0 0 1
SOX9 0 1 0 0 1
SP7 0 1 0 0 1
SPART 0 1 0 0 1
SPTAN1 1 0 0 0 1
SPTB 1 0 0 0 1
SRD5A2 0 0 1 0 1
STAT1 1 0 0 0 1
TBCE 1 0 0 0 1
TBCK 0 1 0 0 1
TCF12 1 0 0 0 1
TCOF1 0 1 0 0 1
TMC1 1 0 0 0 1
TMEM106B 1 0 0 0 1
TRIP12 0 1 0 0 1
TSC1 1 0 0 0 1
TTC5 0 1 0 0 1
TTN 1 0 0 0 1
TUSC3 0 1 0 0 1
TWIST1 1 0 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 1 0 1
USP9X 0 0 1 0 1
VAX1 0 0 1 0 1
VWA8 0 0 1 0 1
WARS1 0 0 1 0 1
WDR35 0 1 0 0 1
WDR4 0 1 0 0 1
WDR45B 0 1 0 0 1
WNK1 0 1 0 0 1
WWOX 0 1 0 0 1
ZBTB18 0 1 0 0 1
ZMIZ1 0 1 0 0 1
ZMYND11 1 0 0 0 1
ZNF142 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 168
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Developmental delay 2 3 7 0 12
Neurofibromatosis, type 1 4 0 0 0 4
Phenylketonuria 4 0 0 0 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 1 0 0 3
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2 1 0 0 3
Osteogenesis imperfecta with normal sclerae, dominant form 3 0 0 0 3
Propionic acidemia 3 0 0 0 3
Autosomal recessive ataxia due to ubiquinone deficiency 0 2 0 0 2
Bardet-Biedl syndrome 10 1 1 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 1 1 0 0 2
CHARGE association 2 0 0 0 2
Classic homocystinuria 1 1 0 0 2
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 1 1 0 2
Hypertrophic cardiomyopathy 7 2 0 0 0 2
Long QT syndrome 1 2 0 0 0 2
Marfan syndrome 2 0 0 0 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 0 0 0 2
Mitochondrial DNA depletion syndrome 4b 0 0 1 1 2
Polyglandular autoimmune syndrome, type 1 0 2 0 0 2
Rett syndrome 2 0 0 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 0 1 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 0 1 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 1
3MC syndrome 2 1 0 0 0 1
Achondroplasia 1 0 0 0 1
Acrocallosal syndrome 0 1 0 0 1
Adams-Oliver syndrome 5 0 1 0 0 1
Al Kaissi syndrome 1 0 0 0 1
Amelogenesis imperfecta type 1G 1 0 0 0 1
Aminoacylase 1 deficiency 1 0 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 1
Arthrogryposis, distal, with impaired proprioception and touch 0 1 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 0 0 1 0 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2O 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 2 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 7 1 0 0 0 1
Bartter disease type 1 1 0 0 0 1
Bernard Soulier syndrome 0 1 0 0 1
Bethlem myopathy 1A 1 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 1 0 0 0 1
Bronchiectasis with or without elevated sweat chloride 2 0 0 1 0 1
Camptomelic dysplasia 0 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 1 0 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 1
Charcot-Marie-Tooth disease type 4B1 1 0 0 0 1
Chuvash polycythemia 0 1 0 0 1
Clark-Baraitser syndrome 0 1 0 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 1 0 0 1
Congenital factor VII deficiency 1 0 0 0 1
Congenital microvillous atrophy 1 0 0 0 1
Congenital muscular dystrophy due to LMNA mutation 1 0 0 0 1
Cranioectodermal dysplasia 1 0 0 0 1 1
Crigler-Najjar syndrome, type II 0 0 1 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 1 0 0 1
Deficiency of steroid 11-beta-monooxygenase 1 0 0 0 1
Developmental and epileptic encephalopathy, 5 1 0 0 0 1
Developmental and epileptic encephalopathy, 7 0 1 0 0 1
Dihydropyrimidinase deficiency 1 0 0 0 1
Dilated cardiomyopathy 1G 1 0 0 0 1
Dubin-Johnson syndrome 0 1 0 0 1
Duchenne muscular dystrophy 1 0 0 0 1
Dyggve-Melchior-Clausen syndrome 1 0 0 0 1
Epidermolysis bullosa simplex 7, with nephropathy and deafness 1 0 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11 1 0 0 0 1
Exostoses, multiple, type 2 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 1
Fanconi anemia complementation group D1 1 0 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 1
Galloway-Mowat syndrome 6 0 1 0 0 1
Gaucher disease type III 1 0 0 0 1
Geroderma osteodysplastica 0 1 0 0 1
Glaucoma 3A 1 0 0 0 1
Grebe syndrome 0 1 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 0 1
Hepatic methionine adenosyltransferase deficiency 0 1 0 0 1
Hereditary acrodermatitis enteropathica 0 0 1 0 1
Hereditary spherocytosis type 2 1 0 0 0 1
Hermansky-Pudlak syndrome 2 0 1 0 0 1
Hyaline fibromatosis syndrome 1 0 0 0 1
Hyperphenylalaninemia due to DNAJC12 deficiency 1 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 1 0 0 0 1
Hypochondroplasia 1 0 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome 1 0 0 0 1
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 71 1 0 0 0 1
Intellectual disability, X-linked 102 1 0 0 0 1
Intellectual disability, autosomal dominant 30 1 0 0 0 1
Intellectual disability, autosomal dominant 50 1 0 0 0 1
Intellectual disability, autosomal dominant 52 0 1 0 0 1
Intellectual disability, autosomal recessive 7 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 1
Interstitial lung disease due to ABCA3 deficiency 1 0 0 0 1
Joubert syndrome 9 0 1 0 0 1
KBG syndrome 1 0 0 0 1
Leber congenital amaurosis 6 1 0 0 0 1
Leukodystrophy, hypomyelinating, 16 1 0 0 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 1 0 0 1
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 0 1 0 0 1
Maple syrup urine disease 1 0 0 0 1
Marinesco-Sjögren syndrome 1 0 0 0 1
Marshall-Smith syndrome 0 1 0 0 1
Menke-Hennekam syndrome 2 0 1 0 0 1
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 1 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 0 1 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 0 1
Microcephaly and chorioretinopathy 2 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 1
Microphthalmia, syndromic 11 0 0 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 4 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 1 0 0 1
Muenke syndrome 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 4 1 0 0 0 1
Myasthenic syndrome, congenital, 22 1 0 0 0 1
Nemaline myopathy 2 0 0 0 1 1
Nephrotic syndrome, type 2 1 0 0 0 1
Neurodegeneration with brain iron accumulation 2B 0 1 0 0 1
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 1 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 0 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 0 1
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 0 1 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2A 0 1 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2B 1 0 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 1
Orofaciodigital syndrome 18 0 0 1 0 1
Osteogenesis imperfecta type 11 1 0 0 0 1
Osteogenesis imperfecta type 12 0 1 0 0 1
Osteogenesis imperfecta type III 0 1 0 0 1
Palmoplantar keratoderma i, striate, focal, or diffuse 1 0 0 0 1
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0 1 0 0 1
Phelan-McDermid syndrome 0 1 0 0 1
Polycystic kidney disease 2 0 0 1 0 1
Progressive pseudorheumatoid dysplasia 0 1 0 0 1
Proline dehydrogenase deficiency 0 0 1 0 1
Pseudo-Hurler polydystrophy 0 1 0 0 1
Pseudohypoaldosteronism, type IB2, autosomal recessive 1 0 0 0 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 0 0 0 1
Pyridoxine-dependent epilepsy 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Renal cysts and diabetes syndrome 1 0 0 0 1
Rhizomelic chondrodysplasia punctata type 2 0 0 1 0 1
Roberts-SC phocomelia syndrome 0 1 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 0 0 1
Sandhoff disease 1 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 1
Short-rib thoracic dysplasia 7 with or without polydactyly 0 1 0 0 1
Sotos syndrome 0 1 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 1 0 0 1
Stüve-Wiedemann syndrome 1 1 0 0 0 1
TWIST1-related craniosynostosis 1 0 0 0 1
Temtamy syndrome 1 0 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 1
Treacher Collins syndrome 1 0 1 0 0 1
Troyer syndrome 0 1 0 0 1
Tuberous sclerosis 1 1 0 0 0 1
Wilson disease 1 0 0 0 1
X-linked agammaglobulinemia 0 1 0 0 1
X-linked hydrocephalus syndrome 1 0 0 0 1

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