ClinVar Miner

Variants from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Location: Saudi Arabia — Primary collection method: clinical testing
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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
30 17 61 1 0 109

Gene and significance breakdown #

Total genes and gene combinations: 105
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CIT 0 0 2 0 2
PTPN11 2 0 0 0 2
SELENON 0 0 2 0 2
TTN 0 1 1 0 2
ABCB4 1 0 0 0 1
ABCC2 1 0 0 0 1
ABCC8 0 0 1 0 1
ACO2 0 0 1 0 1
AGL 0 0 1 0 1
ALMS1 0 1 0 0 1
ARHGEF9 0 1 0 0 1
ARID1B 0 1 0 0 1
ATAD3A 0 1 0 0 1
ATF6 0 1 0 0 1
ATRX 0 0 1 0 1
CASK 0 1 0 0 1
CCN6 1 0 0 0 1
CEP164 0 0 1 0 1
CERT1 0 0 1 0 1
CHAMP1 0 0 1 0 1
CHD7 0 1 0 0 1
CLDN16 1 0 0 0 1
COG5 0 0 1 0 1
COL17A1 0 0 1 0 1
COL6A2 0 0 1 0 1
COQ2, LOC112997540 0 0 1 0 1
COQ8A 0 0 1 0 1
CPLANE1 1 0 0 0 1
CREBBP 0 0 1 0 1
CYP21A2, LOC106780800 1 0 0 0 1
CYP27B1 1 0 0 0 1
CYP2U1 1 0 0 0 1
CYP4F22 0 0 1 0 1
DACT1 0 1 0 0 1
DEAF1 0 0 1 0 1
DLD 1 0 0 0 1
DSC2 0 0 1 0 1
DSE 0 0 1 0 1
DUPD1, KAT6B 0 0 1 0 1
ECHS1 0 0 1 0 1
EDN1 0 0 1 0 1
ELN 0 0 1 0 1
EPCAM 1 0 0 0 1
ERCC1 0 0 1 0 1
F8 1 0 0 0 1
FLG, FLG2 1 0 0 0 1
G6PD 1 0 0 0 1
GABRD 0 0 1 0 1
GALC 0 1 0 0 1
GBE1 1 0 0 0 1
GCSH 0 0 1 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 1
IFT57 0 1 0 0 1
KANK1 0 0 1 0 1
KCNA2 0 1 0 0 1
KCNK3 0 0 1 0 1
KCNQ2 0 1 0 0 1
KDM5C 0 0 1 0 1
KIF11 0 0 1 0 1
KIT 0 0 1 0 1
LAMA3 0 0 1 0 1
LARP7, MIR302CHG 0 1 0 0 1
LARS2 0 0 1 0 1
LEMD3 0 0 1 0 1
LHX3 0 0 1 0 1
LPAR6, RB1 1 0 0 0 1
LTBP2 0 0 1 0 1
MMP13 1 0 0 0 1
MSH2 0 0 1 0 1
MYBPC1 0 0 1 0 1
MYO5A 0 0 1 0 1
MYT1L 1 0 0 0 1
NKX6-2 1 0 0 0 1
OTOF 0 1 0 0 1
PARS2 1 0 0 0 1
PCCA 0 0 0 1 1
PEX5 1 0 0 0 1
POLR1A 0 0 1 0 1
POMC 0 0 1 0 1
PRUNE1 0 0 1 0 1
PTH1R 1 0 0 0 1
ROBO3 0 0 1 0 1
SAMHD1 0 0 1 0 1
SLC36A2 0 0 1 0 1
SLC9A3 0 1 0 0 1
SLITRK6 0 0 1 0 1
SMG9 1 0 0 0 1
SOS1 0 0 1 0 1
SOX5 0 0 1 0 1
SRPX2 0 0 1 0 1
SUMF1 1 0 0 0 1
SZT2 0 0 1 0 1
TBCD 1 0 0 0 1
TGFBR2 1 0 0 0 1
THOC2 0 0 1 0 1
TMEM231 0 0 1 0 1
TUBA8 0 0 1 0 1
UGDH 1 0 0 0 1
USP9X 0 0 1 0 1
VPS13B 1 0 0 0 1
WARS2 0 0 1 0 1
WFS1 0 0 1 0 1
WNT1 0 0 1 0 1
WNT10B 0 1 0 0 1
ZNF711 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 106
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Distal myopathy Markesbery-Griggs type 0 1 1 0 2
Eichsfeld type congenital muscular dystrophy 0 0 2 0 2
Microcephaly 17, primary, autosomal recessive 0 0 2 0 2
PTPN11-related disorder 2 0 0 0 2
ABCC8-related disorder 0 0 1 0 1
Achromatopsia 7 0 1 0 0 1
Acrofacial dysostosis, Cincinnati type 0 0 1 0 1
Adult junctional epidermolysis bullosa 0 0 1 0 1
Aicardi Goutieres syndrome 5 0 0 1 0 1
Alazami syndrome 0 1 0 0 1
Alstrom syndrome 0 1 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 0 1 0 1
Autosomal recessive congenital ichthyosis 5 0 0 1 0 1
CHARGE association 0 1 0 0 1
COL6A2-related disorder 0 0 1 0 1
Cataract 41 0 0 1 0 1
Cerebral palsy, spastic quadriplegic, 2 0 0 1 0 1
Cerebrooculofacioskeletal syndrome 4 0 0 1 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 0 1
Coenzyme Q10 deficiency, primary 1 0 0 1 0 1
Coenzyme Q10 deficiency, primary, 4 0 0 1 0 1
Coffin-Siris syndrome 1 0 1 0 0 1
Cohen syndrome 1 0 0 0 1
Congenital disorder of glycosylation type 2i 0 0 1 0 1
DACT1-related neural tube defects 0 1 0 0 1
Deafness and myopia 0 0 1 0 1
Deafness, autosomal recessive 9 0 1 0 0 1
Dermatofibrosis lenticularis disseminata 0 0 1 0 1
Diarrhea 5, with tufting enteropathy, congenital 1 0 0 0 1
Diarrhea 8, secretory sodium, congenital 0 1 0 0 1
Distal arthrogryposis type 1B 0 0 1 0 1
Dubin-Johnson syndrome 1 0 0 0 1
ELN-related disorder 0 0 1 0 1
Early infantile epileptic encephalopathy 18 0 0 1 0 1
Early infantile epileptic encephalopathy 8 0 1 0 0 1
Ehlers-Danlos syndrome, musculocontractural type 2 0 0 1 0 1
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 1 0 0 0 1
Epilepsy, idiopathic generalized 10 0 0 1 0 1
Epileptic encephalopathy 1 0 0 0 1
Epileptic encephalopathy, early infantile, 32 0 1 0 0 1
Failure of tooth eruption, primary 1 0 0 0 1
Fetal hemoglobin quantitative trait locus 1 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 1
Gaze palsy, familial horizontal, with progressive scoliosis 0 0 1 0 1
Glycogen storage disease type III 0 0 1 0 1
Glycogen storage disease, type IV 1 0 0 0 1
Griscelli syndrome type 1 0 0 1 0 1
Harel-Yoon syndrome 0 1 0 0 1
Heart and brain malformation syndrome 1 0 0 0 1
Hereditary factor VIII deficiency disease 1 0 0 0 1
Hydrops, lactic acidosis, and sideroblastic anemia 0 0 1 0 1
Hyperglycinuria 0 0 1 0 1
Hypotrichosis 8 1 0 0 0 1
Infantile cerebellar-retinal degeneration 0 0 1 0 1
Joubert syndrome 17 1 0 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 0 0 1 0 1
KCNQ2-Related Disorders 0 1 0 0 1
LTBP2-related Disorder 0 0 1 0 1
Lamb-shaffer syndrome 0 0 1 0 1
Loeys-Dietz syndrome 2 1 0 0 0 1
MSH2-related disorder 0 0 1 0 1
Maple syrup urine disease, type 3 1 0 0 0 1
Mast cell disease, systemic 0 0 1 0 1
Meckel syndrome, type 11 0 0 1 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 0 1 0 0 1
Mental retardation, X-linked 12 0 0 1 0 1
Mental retardation, X-linked 99 0 0 1 0 1
Mental retardation, autosomal dominant 24 0 0 1 0 1
Mental retardation, autosomal dominant 34 0 0 1 0 1
Mental retardation, autosomal dominant 39 1 0 0 0 1
Mental retardation, autosomal dominant 40 0 0 1 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 0 0 1 0 1
Mental retardation-hypotonic facies syndrome X-linked, 1 0 0 1 0 1
Metaphyseal chondrodysplasia, Spahr type 1 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 0 1 0 1
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 0 0 1 0 1
Multiple sulfatase deficiency 1 0 0 0 1
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES 0 0 1 0 1
Neonatal adrenoleucodystrophy 1 0 0 0 1
Nephronophthisis 15 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 0 1 0 1
Non-ketotic hyperglycinemia 0 0 1 0 1
Noonan syndrome 4 0 0 1 0 1
OROFACIODIGITAL SYNDROME XVIII 0 1 0 0 1
Obesity 0 0 1 0 1
Osteogenesis imperfecta, type xv 0 0 1 0 1
PARS2-related disorder 1 0 0 0 1
PEELING SKIN SYNDROME 6 1 0 0 0 1
Peroxisome biogenesis disorder 2A (Zellweger) 1 0 0 0 1
Pituitary hormone deficiency, combined 3 0 0 1 0 1
Polymicrogyria with optic nerve hypoplasia 0 0 1 0 1
Primary hypomagnesemia 1 0 0 0 1
Primary pulmonary hypertension 4 0 0 1 0 1
Progressive familial intrahepatic cholestasis 3 1 0 0 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 1
Propionyl-CoA carboxylase deficiency 0 0 0 1 1
Question mark ears, isolated 0 0 1 0 1
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 0 0 1 0 1
Rubinstein-Taybi syndrome 1 0 0 1 0 1
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 1 0 0 0 1
Spastic paraplegia 56, autosomal recessive 1 0 0 0 1
Split-hand/foot malformation 6 0 1 0 0 1
Vitamin D-dependent rickets, type 1 1 0 0 0 1
Young Simpson syndrome 0 0 1 0 1
ZNF711-Related X-linked Mental Retardation 0 0 1 0 1

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