ClinVar Miner

Variants from Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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
86 73 3 4 69 233

Gene and significance breakdown #

Total genes and gene combinations: 145
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
​intergenic 0 0 0 0 10 10
FRG2C 0 0 0 0 7 7
C4A 0 0 0 0 6 6
CC2D2A 2 4 0 0 0 6
MMUT 6 0 0 0 0 6
ADAMTSL2 0 0 0 0 5 5
WWOX 3 2 0 0 0 5
ANTXR2 3 1 0 0 0 4
CEP290 3 3 0 0 0 4
COL7A1 1 3 0 0 0 4
ARSA 2 1 0 0 0 3
CTSK 2 1 0 0 0 3
GJC2 0 3 0 0 0 3
HYDIN 0 0 0 0 3 3
PC 1 2 0 0 0 3
PIEZO2 0 3 0 0 0 3
POMT1 2 1 0 0 0 3
RFXANK 2 1 0 0 0 3
SERAC1 0 3 0 0 0 3
TCTN2 1 2 0 0 0 3
ABCB4 2 0 0 0 0 2
AP4M1 2 0 0 0 0 2
ECEL1 1 1 0 0 0 2
GAA 2 0 0 0 0 2
GALNT10 0 0 0 0 2 2
GUSB 1 1 0 0 0 2
HSPG2 0 2 0 0 0 2
ICA1 0 0 0 0 2 2
IDUA 2 0 0 0 0 2
IL7R 0 0 0 0 2 2
LAMB2 0 2 0 0 0 2
MYO7A 0 0 0 0 2 2
NPC1 1 1 0 0 0 2
P3H1 1 1 0 0 0 2
PCCA 2 0 0 0 0 2
PCNT 1 1 0 0 0 2
PNP 0 2 0 0 0 2
PTS 0 2 0 0 0 2
SLC12A3 0 2 0 0 0 2
SLC27A3 0 0 0 0 2 2
UNC80 1 0 1 0 0 2
AAAS 1 0 0 0 0 1
ABCB11 1 0 0 0 0 1
ACADVL, LOC130060113 1 0 0 0 0 1
ADA 1 0 0 0 0 1
ADAT3, SCAMP4 1 0 0 0 0 1
ALS2 0 1 0 0 0 1
APC 0 0 0 0 1 1
ASS1 1 0 0 0 0 1
BCKDHB 0 1 0 0 0 1
BIVM-ERCC5, ERCC5, LOC126861834 1 0 0 0 0 1
C4B 0 0 0 0 1 1
C4B, LOC110631417 0 0 0 0 1 1
CAVIN1 0 1 0 0 0 1
CCBE1 0 0 0 0 1 1
CEP135 1 0 0 0 0 1
CLN5 1 0 0 0 0 1
CNTNAP2 0 0 0 0 1 1
COL13A1 1 0 0 0 0 1
COL18A1, SLC19A1 0 0 0 0 1 1
COL1A1 1 0 0 0 0 1
CTBP2 0 0 0 0 1 1
DONSON 0 1 0 0 0 1
ENTREP2 0 0 0 0 1 1
FBP1 1 0 0 0 0 1
FBXL4 0 1 0 0 0 1
FMN2 0 0 0 0 1 1
FRRS1L 0 0 0 0 1 1
G6PC1 1 0 0 0 0 1
GALC 1 0 0 0 0 1
GALNS, LOC126862447 1 0 0 0 0 1
GCDH 1 0 0 0 0 1
HADHB 0 1 0 0 0 1
HFE 0 0 0 0 1 1
HLCS 1 0 0 0 0 1
HMGCL 1 0 0 0 0 1
IDUA, SLC26A1 1 0 0 0 0 1
ISCA2 1 0 0 0 0 1
JAM3 1 0 0 0 0 1
KIF7, LOC126862216 1 0 0 0 0 1
KIR2DL4 0 0 0 0 1 1
KIR3DL3 0 0 0 0 1 1
LAMA2 1 0 0 0 0 1
LOC108663996, TBP 0 0 0 0 1 1
LOC121725110, UNC80 0 1 0 0 0 1
LOC126862264, MEFV 0 0 0 0 1 1
LOC130000896, RRM2B 0 1 0 0 0 1
LOC130006765, PTS 0 1 0 0 0 1
LOC130065433, NDUFAF5 0 0 1 0 0 1
MAP7 0 0 0 0 1 1
MBD1 0 0 0 0 1 1
MCM6 0 0 0 0 1 1
MFF 0 0 0 0 1 1
MICU1 1 0 0 0 0 1
MKS1 0 1 0 0 0 1
MMADHC 0 1 0 0 0 1
MPDZ 1 0 0 0 0 1
MPV17 1 0 0 0 0 1
NBN 0 1 0 0 0 1
NCAPH2, SCO2 0 1 0 0 0 1
NLRC5 0 0 0 0 1 1
PAH 0 1 0 0 0 1
PARS2 1 0 0 0 0 1
PEX1 0 0 0 1 0 1
PEX16 0 1 0 0 0 1
PGAP3 1 0 0 0 0 1
PIK3CD 0 0 0 0 1 1
PKHD1 0 1 0 0 0 1
POC1A 0 0 0 1 0 1
POLR3A 0 0 1 0 0 1
POMK 1 0 0 0 0 1
PSAP 1 0 0 0 0 1
PYCR2 0 1 0 0 0 1
PYGL 1 0 0 0 0 1
QDPR 0 1 0 0 0 1
RAB3GAP2 0 0 0 0 1 1
RNASEH2B 0 1 0 0 0 1
ROBO3 0 1 0 0 0 1
RRM2B 0 1 0 0 0 1
SETX 1 0 0 0 0 1
SGCA 1 0 0 0 0 1
SLC19A3 1 0 0 0 0 1
SLC25A20 1 0 0 0 0 1
SLC25A42 1 0 0 0 0 1
SLC26A3 1 0 0 0 0 1
SLC29A3 0 0 0 0 1 1
SLC2A2 0 1 0 0 0 1
SMN1 0 0 0 0 1 1
SMN2 0 0 0 0 1 1
SMPD1 1 0 0 0 0 1
SPART 1 0 0 0 0 1
STAC3 0 1 0 0 0 1
SUCLA2 0 1 0 0 0 1
SUOX 0 1 0 0 0 1
TBCE 1 0 0 0 0 1
TMEM231 0 1 0 0 0 1
TMEM236 0 0 0 0 1 1
TYR 1 0 0 0 0 1
VPS13B 1 0 0 0 0 1
VPS33B 0 0 0 1 0 1
XIRP1 0 0 0 1 0 1
XRCC2 0 1 0 0 0 1
XRCC4 0 1 0 0 0 1
ZNF26, ZNF84 0 0 0 0 1 1
ZNF84 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 105
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 0 4 66 70
Meckel syndrome, type 6 6 6 0 0 0 12
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 6 0 0 0 0 6
Developmental and epileptic encephalopathy, 28 3 2 0 0 0 5
Hyaline fibromatosis syndrome 3 1 0 0 0 4
Recessive dystrophic epidermolysis bullosa 1 3 0 0 0 4
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 3 0 0 0 3
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 0 3 0 0 0 3
Arthrogryposis, distal, with impaired proprioception and touch 0 3 0 0 0 3
Hurler syndrome 3 0 0 0 0 3
Hypomyelinating leukodystrophy 2 0 3 0 0 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 1 1 1 0 0 3
Joubert syndrome 5 1 2 0 0 0 3
MHC class II deficiency 2 1 0 0 0 3
Metachromatic leukodystrophy 2 1 0 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2 1 0 0 0 3
Progressive familial intrahepatic cholestasis type 3 3 0 0 0 0 3
Pyknodysostosis 2 1 0 0 0 3
Pyruvate carboxylase deficiency 1 2 0 0 0 3
Distal arthrogryposis type 5D 1 1 0 0 0 2
Familial hypokalemia-hypomagnesemia 0 2 0 0 0 2
Glycogen storage disease, type II 2 0 0 0 0 2
Hereditary spastic paraplegia 50 2 0 0 0 0 2
Microcephalic osteodysplastic primordial dwarfism type II 1 1 0 0 0 2
Mitochondrial DNA depletion syndrome 8a 0 2 0 0 0 2
Mucopolysaccharidosis type 7 1 1 0 0 0 2
Niemann-Pick disease, type C1 1 1 0 0 0 2
Osteogenesis imperfecta type 8 1 1 0 0 0 2
Propionic acidemia 2 0 0 0 0 2
Purine-nucleoside phosphorylase deficiency 0 2 0 0 0 2
Schwartz-Jampel syndrome 0 2 0 0 0 2
Short stature, microcephaly, and endocrine dysfunction 0 2 0 0 0 2
Acrocallosal syndrome 1 0 0 0 0 1
Aicardi-Goutieres syndrome 2 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 2, juvenile 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 1
Bailey-Bloch congenital myopathy 0 1 0 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 1 0 0 0 1
Carnitine acylcarnitine translocase deficiency 1 0 0 0 0 1
Cerebrooculofacioskeletal syndrome 3 1 0 0 0 0 1
Citrullinemia type I 1 0 0 0 0 1
Cohen syndrome 1 0 0 0 0 1
Congenital generalized lipodystrophy type 4 0 1 0 0 0 1
Congenital myasthenic syndrome 19 1 0 0 0 0 1
Congenital secretory diarrhea, chloride type 1 0 0 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 37 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 75 1 0 0 0 0 1
Dihydropteridine reductase deficiency 0 1 0 0 0 1
Fanconi-Bickel syndrome 0 1 0 0 0 1
Fructose-biphosphatase deficiency 1 0 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 1 0 0 0 0 1
Gaze palsy, familial horizontal, with progressive scoliosis 1 0 1 0 0 0 1
Glucocorticoid deficiency with achalasia 1 0 0 0 0 1
Glutaric aciduria, type 1 1 0 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 0 1
Glycogen storage disease, type VI 1 0 0 0 0 1
Holocarboxylase synthetase deficiency 1 0 0 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 1 0 0 0 0 1
Hypomyelinating leukodystrophy 10 0 1 0 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome 1 0 0 0 0 1
Intellectual disability, autosomal recessive 47 0 0 0 0 1 1
Intellectual disability-strabismus syndrome 1 0 0 0 0 1
LAMB2-related infantile-onset nephrotic syndrome 0 1 0 0 0 1
Lethal Kniest-like syndrome 0 1 0 0 0 1
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 0 0 1 0 0 1
Limb-girdle muscular dystrophy due to POMK deficiency 1 0 0 0 0 1
Maple syrup urine disease 0 1 0 0 0 1
Meckel syndrome, type 1 0 1 0 0 0 1
Meckel syndrome, type 11 0 1 0 0 0 1
Meckel syndrome, type 4 0 1 0 0 0 1
Merosin deficient congenital muscular dystrophy 1 0 0 0 0 1
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 1 0 0 0 0 1
Methylmalonic aciduria and homocystinuria type cblD 0 1 0 0 0 1
Microcephaly 8, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly, normal intelligence and immunodeficiency 0 1 0 0 0 1
Microcephaly-micromelia syndrome 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 13 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 16 0 0 1 0 0 1
Mitochondrial trifunctional protein deficiency 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 1 0 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 4 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 5 1 0 0 0 0 1
Niemann-Pick disease, type A 1 0 0 0 0 1
Niemann-Pick disease, type B 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta type III 1 0 0 0 0 1
Peroxisome biogenesis disorder 8A (Zellweger) 0 1 0 0 0 1
Phenylketonuria 0 1 0 0 0 1
Pierson syndrome 0 1 0 0 0 1
Polycystic kidney disease 4 0 1 0 0 0 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 1 0 0 0 0 1
Proximal myopathy with extrapyramidal signs 1 0 0 0 0 1
Schwartz-Jampel syndrome type 1 0 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 1 0 0 0 0 1
Sphingolipid activator protein 1 deficiency 1 0 0 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 0 0 0 0 1
Sulfite oxidase deficiency 0 1 0 0 0 1
Troyer syndrome 1 0 0 0 0 1
Tyrosinase-negative oculocutaneous albinism 1 0 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 1 0 0 0 0 1
Warburg micro syndrome 2 0 0 0 0 1 1

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