ClinVar Miner

Variants from Department of Genetics,Sultan Qaboos University Hospital, Oman

Location: Oman — Primary collection method: curation
Minimum submission review status: Collection method:
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Gene type:
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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
112 36 84 0 1 233

Gene and significance breakdown #

Total genes and gene combinations: 172
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CFTR 3 0 3 0 6
CYP1B1 0 0 4 0 4
G6PD 0 0 3 1 4
HSD11B2 0 0 4 0 4
PRF1 2 0 2 0 4
SACS 4 0 0 0 4
BCKDHA 3 0 0 0 3
BSCL2, HNRNPUL2-BSCL2 2 1 0 0 3
DBT 1 2 0 0 3
DYSF 3 0 0 0 3
IVD 3 0 0 0 3
PKHD1 3 0 0 0 3
PLA2G6 3 0 0 0 3
RAB3GAP1 3 0 0 0 3
ABCB11 1 0 1 0 2
AGXT 1 1 0 0 2
ALOX12B 0 0 2 0 2
ASNS, CZ1P-ASNS 1 0 1 0 2
ATP6V0A2 1 1 0 0 2
CTSK 1 1 0 0 2
CUL7 0 0 2 0 2
EPG5 1 0 1 0 2
FA2H 0 0 2 0 2
FAH 2 0 0 0 2
FERMT1 2 0 0 0 2
FGFR3 0 0 2 0 2
GCDH 0 0 2 0 2
GLDC 0 0 2 0 2
GUCY2D 0 2 0 0 2
HSPG2 0 0 2 0 2
LAMA2 2 0 0 0 2
MYO15A 2 0 0 0 2
NAGLU 1 1 0 0 2
ROR2 2 0 0 0 2
SLC52A3 1 0 1 0 2
TGM1 1 1 0 0 2
TNFRSF1A 0 2 0 0 2
TPO 2 0 0 0 2
WDR72 2 0 0 0 2
AARS2 1 0 0 0 1
ABCA4 0 1 0 0 1
ACADM 0 0 1 0 1
ACADVL 0 1 0 0 1
AGA 1 0 0 0 1
AGL 0 0 1 0 1
AIRE 0 0 1 0 1
ALDH3A2 1 0 0 0 1
ALDH7A1 0 0 1 0 1
ALOXE3 0 0 1 0 1
AMT 1 0 0 0 1
AMT, NICN1 1 0 0 0 1
ANTXR2 0 1 0 0 1
AR 1 0 0 0 1
ARSA 0 1 0 0 1
ARSB 1 0 0 0 1
ASL 1 0 0 0 1
ASS1 0 0 1 0 1
ATP7B 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 1
AXDND1, NPHS2 0 0 1 0 1
BCKDHB 0 1 0 0 1
BEST1 0 1 0 0 1
BRCA2 1 0 0 0 1
BRWD3 1 0 0 0 1
C1QTNF5, MFRP 0 0 1 0 1
CAVIN1 1 0 0 0 1
CBS 1 0 0 0 1
CFTR, LOC111674475 1 0 0 0 1
CFTR, LOC113633877 1 0 0 0 1
CHRNE 1 0 0 0 1
CHRNG 1 0 0 0 1
CHST3 0 0 1 0 1
CLCN1 1 0 0 0 1
CLN5, FBXL3 1 0 0 0 1
CLN6 1 0 0 0 1
CNGA3 1 0 0 0 1
COA8 0 0 1 0 1
COL18A1, SLC19A1 1 0 0 0 1
COL2A1 0 1 0 0 1
COL7A1 1 0 0 0 1
CPT2 0 0 1 0 1
CSTB, LOC109029533 1 0 0 0 1
CTSC 0 0 1 0 1
DDHD2 1 0 0 0 1
DEAF1 1 0 0 0 1
DM1, DMPK, LOC107075317, LOC109461477 1 0 0 0 1
DNAJB2 0 1 0 0 1
DSC2 0 0 1 0 1
ELANE 0 0 1 0 1
ELMO2 0 0 1 0 1
ETFDH 0 0 1 0 1
FARSB 0 1 0 0 1
FAT4 1 0 0 0 1
FBN1 1 0 0 0 1
FH 0 0 1 0 1
FMR1 1 0 0 0 1
FMR1, LOC107032825, LOC108684022 1 0 0 0 1
GALC 0 0 1 0 1
GALNS 0 0 1 0 1
GALT 0 1 0 0 1
GAN 1 0 0 0 1
GDF5, GDF5OS 0 1 0 0 1
GJC2 0 0 1 0 1
GLRA1 0 0 1 0 1
GM2A 0 0 1 0 1
GORAB 0 1 0 0 1
GPT2 0 0 1 0 1
HEXB 1 0 0 0 1
HPS6 0 1 0 0 1
HR 1 0 0 0 1
KCTD7 1 0 0 0 1
LDLR 1 0 0 0 1
LHX3 1 0 0 0 1
LIFR 1 0 0 0 1
LOC106029312, NCF1 1 0 0 0 1
LYST 1 0 0 0 1
MAN2B1 1 0 0 0 1
MCOLN1 0 0 1 0 1
MEFV 0 0 1 0 1
MPV17 0 1 0 0 1
MTHFR 0 0 1 0 1
MTMR2 1 0 0 0 1
MYO7A 0 1 0 0 1
NBN 0 0 1 0 1
NDUFS2 0 0 1 0 1
NEB, RIF1 1 0 0 0 1
NHLRC1 1 0 0 0 1
NOD2 0 0 1 0 1
NPC1 0 0 1 0 1
NPHS2 1 0 0 0 1
NR0B1 1 0 0 0 1
NR2E3 0 1 0 0 1
NRL 0 1 0 0 1
PCCA 0 0 1 0 1
PCCB 1 0 0 0 1
PHKG2 0 1 0 0 1
PIGA 0 0 1 0 1
PKD1 0 0 1 0 1
PLCB4 1 0 0 0 1
PNKD 0 0 1 0 1
POC1A 0 1 0 0 1
POLG 0 1 0 0 1
PRRT2 1 0 0 0 1
PYCR1 1 0 0 0 1
PYCR2 0 1 0 0 1
QDPR 0 0 1 0 1
RAD50 0 0 1 0 1
RET 0 0 1 0 1
RPE65 0 1 0 0 1
SELENON 1 0 0 0 1
SERAC1 0 0 1 0 1
SIGMAR1 1 0 0 0 1
SLC37A4 0 0 1 0 1
SLC4A1 0 0 1 0 1
SLC6A8 0 0 1 0 1
SMARCA2 0 0 1 0 1
SPART 1 0 0 0 1
SPINK1 0 0 1 0 1
SPINK5 1 0 0 0 1
SUCLA2 0 0 1 0 1
SUOX 1 0 0 0 1
TARS2 0 0 1 0 1
TBCE 1 0 0 0 1
THRB 0 1 0 0 1
TMEM138 0 0 1 0 1
TMEM67 1 0 0 0 1
TPP1 0 1 0 0 1
TRIM37 1 0 0 0 1
TSHR 0 0 1 0 1
VPS13B 0 0 1 0 1
WDR19 0 0 1 0 1
WNT10B 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 170
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Condition pathogenic likely pathogenic uncertain significance benign total
Maple syrup urine disease 4 3 0 0 7
Cystic fibrosis 5 0 1 0 6
Hemophagocytic lymphohistiocytosis, familial, 2 3 0 2 0 5
Apparent mineralocorticoid excess 0 0 4 0 4
Glaucoma 3, primary congenital, A 0 0 4 0 4
Non-ketotic hyperglycinemia 2 0 2 0 4
Spastic ataxia Charlevoix-Saguenay type 4 0 0 0 4
Autosomal recessive polycystic kidney disease 3 0 0 0 3
Congenital generalized lipodystrophy type 2 2 1 0 0 3
Hereditary pancreatitis 0 0 3 0 3
Isovaleryl-CoA dehydrogenase deficiency 3 0 0 0 3
Limb-girdle muscular dystrophy, type 2B 3 0 0 0 3
Warburg micro syndrome 1 3 0 0 0 3
Amelogenesis imperfecta, hypomaturation type, IIA3 2 0 0 0 2
Asparagine synthetase deficiency 1 0 1 0 2
Autosomal recessive congenital ichthyosis 1 1 1 0 0 2
Autosomal recessive congenital ichthyosis 2 0 0 2 0 2
Brown-Vialetto-Van Laere syndrome 1 1 0 1 0 2
Cutis laxa with osteodystrophy 1 1 0 0 2
Deafness, autosomal recessive 3 2 0 0 0 2
Deficiency of iodide peroxidase 2 0 0 0 2
Glutaric aciduria, type 1 0 0 2 0 2
Kindler's syndrome 2 0 0 0 2
Leber congenital amaurosis 1 0 2 0 0 2
Merosin deficient congenital muscular dystrophy 2 0 0 0 2
Mucopolysaccharidosis, MPS-III-B 1 1 0 0 2
Nephrotic syndrome, idiopathic, steroid-resistant 1 0 1 0 2
Neurodegeneration with brain iron accumulation 2b 2 0 0 0 2
Primary hyperoxaluria, type I 1 1 0 0 2
Progressive familial intrahepatic cholestasis 2 1 0 1 0 2
Propionyl-CoA carboxylase deficiency 1 0 1 0 2
Pyknodysostosis 1 1 0 0 2
Robinow syndrome, autosomal recessive 2 0 0 0 2
Spastic paraplegia 35 0 0 2 0 2
TNF receptor-associated periodic fever syndrome (TRAPS) 0 2 0 0 2
Three M syndrome 1 0 0 2 0 2
Tyrosinemia type I 2 0 0 0 2
Vici syndrome 1 0 1 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 0 1
Achondroplasia 0 0 1 0 1
Achromatopsia 2 1 0 0 0 1
Aicardi Goutieres syndrome 1 1 0 0 0 1
Alopecia universalis congenita 1 0 0 0 1
Androgen resistance syndrome 1 0 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 0 1 0 1
Angioedema induced by ACE inhibitors, susceptibility to 0 0 1 0 1
Argininosuccinate lyase deficiency 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 0 1 0 1
Aspartylglucosaminuria 1 0 0 0 1
Auriculocondylar syndrome 2 1 0 0 0 1
Autosomal recessive congenital ichthyosis 3 0 0 1 0 1
Autosomal recessive cutis laxa type 3B 1 0 0 0 1
Blau syndrome 0 0 1 0 1
Bone mineral density quantitative trait locus 18 0 0 0 1 1
Breast-ovarian cancer, familial 2 1 0 0 0 1
Carnitine palmitoyltransferase II deficiency, infantile 0 0 1 0 1
Ceroid lipofuscinosis neuronal 2 0 1 0 0 1
Ceroid lipofuscinosis neuronal 5 1 0 0 0 1
Ceroid lipofuscinosis neuronal 6 1 0 0 0 1
Charcot-Marie-Tooth disease, type 4B1 1 0 0 0 1
Chédiak-Higashi syndrome 1 0 0 0 1
Citrullinemia type I 0 0 1 0 1
Cohen syndrome 0 0 1 0 1
Combined oxidative phosphorylation deficiency 21 0 0 1 0 1
Combined oxidative phosphorylation deficiency 8 1 0 0 0 1
Congenital adrenal hypoplasia, X-linked 1 0 0 0 1
Congenital myotonia, autosomal recessive form 1 0 0 0 1
Creatine deficiency, X-linked 0 0 1 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 1 0 0 1
Deficiency of alpha-mannosidase 1 0 0 0 1
Dihydropteridine reductase deficiency 0 0 1 0 1
Distal spinal muscular atrophy, autosomal recessive 2 1 0 0 0 1
Eichsfeld type congenital muscular dystrophy 1 0 0 0 1
Enhanced s-cone syndrome 0 1 0 0 1
Epilepsy, progressive myoclonic 3 1 0 0 0 1
Familial hypercholesterolemia 1 0 0 0 1
Familial mediterranean fever, autosomal dominant 0 0 1 0 1
Fragile X syndrome 1 0 0 0 1
Fragile X tremor/ataxia syndrome 1 0 0 0 1
Fumarase deficiency 0 0 1 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 0 1
Geroderma osteodysplastica 0 1 0 0 1
Giant axonal neuropathy 1 0 0 0 1
Glucose-6-phosphate transport defect 0 0 1 0 1
Glutaric aciduria, type 2 0 0 1 0 1
Glycogen storage disease IXc 0 1 0 0 1
Glycogen storage disease type III 0 0 1 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 1 0 0 0 1
Grebe syndrome 0 1 0 0 1
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 0 0 1 0 1
Hermansky-Pudlak syndrome 6 0 1 0 0 1
Homocystinuria due to CBS deficiency 1 0 0 0 1
Hyaline fibromatosis syndrome 0 1 0 0 1
Hyperekplexia hereditary 0 0 1 0 1
Hypoparathyroidism retardation dysmorphism syndrome 1 0 0 0 1
Hypothyroidism, congenital, nongoitrous, 1 0 0 1 0 1
Infantile convulsions and paroxysmal choreoathetosis, familial 1 0 0 0 1
Infantile neuroaxonal dystrophy 1 0 0 0 1
Joubert syndrome 16 0 0 1 0 1
Kniest dysplasia 0 1 0 0 1
Knobloch syndrome 1 1 0 0 0 1
Lafora disease 1 0 0 0 1
Leber congenital amaurosis 2 0 1 0 0 1
Lethal Kniest-like syndrome 0 0 1 0 1
Leukodystrophy, hypomyelinating, 10 0 1 0 0 1
Lipodystrophy, congenital generalized, type 4 1 0 0 0 1
Marfan syndrome 1 0 0 0 1
Meckel syndrome type 3 1 0 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 0 1 0 1
Mental retardation, X-linked 93 1 0 0 0 1
Mental retardation, autosomal dominant 24 1 0 0 0 1
Mental retardation, autosomal recessive 49 0 0 1 0 1
Metachromatic leukodystrophy 0 1 0 0 1
Microcephaly, normal intelligence and immunodeficiency 0 0 1 0 1
Microphthalmia, isolated 5 0 0 1 0 1
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 0 1 0 1
Mucolipidosis type IV 0 0 1 0 1
Mucopolysaccharidosis type VI 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 0 1 0 1
Mulibrey nanism syndrome 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 1 0 1
Multiple endocrine neoplasia, type 2a 0 0 1 0 1
Multiple pterygium syndrome Escobar type 1 0 0 0 1
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 1 0 0 0 1
Navajo neurohepatopathy 0 1 0 0 1
Nemaline myopathy 2 1 0 0 0 1
Netherton syndrome 1 0 0 0 1
Neutropenia, severe congenital 1, autosomal dominant 0 0 1 0 1
Nicolaides-Baraitser syndrome 0 0 1 0 1
Niemann-Pick disease type C1 0 0 1 0 1
Nijmegen breakage syndrome-like disorder 0 0 1 0 1
Papillon-Lefèvre syndrome 0 0 1 0 1
Parkinsonism with spasticity, X-linked 0 0 1 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 1 0 1
Pelizaeus-Merzbacher disease 0 0 1 0 1
Pituitary hormone deficiency, combined 3 1 0 0 0 1
Polycystic kidney disease, adult type 0 0 1 0 1
Polyglandular autoimmune syndrome, type 1 0 0 1 0 1
Premature ovarian failure 1 1 0 0 0 1
Progressive sclerosing poliodystrophy 0 1 0 0 1
Pyridoxine-dependent epilepsy 0 0 1 0 1
Rajab syndrome; Neurodevelopmental disorder with brain, liver, and lung abnormalities 0 1 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 1
Renal tubular acidosis, distal, with hemolytic anemia 0 0 1 0 1
Retinitis pigmentosa 27 0 1 0 0 1
Sandhoff disease 1 0 0 0 1
Schwartz Jampel syndrome type 1 0 0 1 0 1
Senior-Loken syndrome 8 0 0 1 0 1
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 0 1 0 0 1
Sjögren-Larsson syndrome 1 0 0 0 1
Spastic paraplegia 54, autosomal recessive 1 0 0 0 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 1 0 0 1
Split-hand/foot malformation 6 0 0 1 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 0 1 0 1
Stargardt disease 1 0 1 0 0 1
Steinert myotonic dystrophy syndrome 1 0 0 0 1
Sulfite oxidase deficiency 1 0 0 0 1
Tay-Sachs disease, variant AB 0 0 1 0 1
Thanatophoric dysplasia type 1 0 0 1 0 1
Thyroid hormone resistance, generalized, autosomal recessive 0 1 0 0 1
Troyer syndrome 1 0 0 0 1
Unverricht-Lundborg syndrome 1 0 0 0 1
Usher syndrome, type 1 0 1 0 0 1
Van Maldergem syndrome 2 1 0 0 0 1
Vascular malformation, primary intraosseous 0 0 1 0 1
Venous thrombosis 0 0 1 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 1 0 0 1
Vitelliform macular dystrophy type 2 0 1 0 0 1
Wilson disease 1 0 0 0 1

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