ClinVar Miner

Variants from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital

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
14 24 14 1 2 55

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GAA 0 0 2 0 0 2
TTN 0 0 2 0 0 2
ALDH18A1 0 1 0 0 0 1
ALG12 0 1 0 0 0 1
AMT 1 0 0 0 0 1
ASS1 1 0 0 0 0 1
ATAD1 0 0 1 0 0 1
BCKDHB 1 0 0 0 0 1
BRAF 0 1 0 0 0 1
CACNA1S 0 1 0 0 0 1
CERT1 0 0 0 1 0 1
COL4A2 0 0 1 0 0 1
CRX 1 0 0 0 0 1
CSPP1 1 0 0 0 0 1
EDEM3 0 1 0 0 0 1
ELAC2 1 0 0 0 0 1
FARS2 0 0 1 0 0 1
FBP1 1 0 0 0 0 1
FGFR3 0 0 1 0 0 1
FUCA1 0 1 0 0 0 1
GALC 1 0 0 0 0 1
GALT 0 0 0 0 1 1
GNS 0 1 0 0 0 1
HIBCH 0 1 0 0 0 1
KDM5B 0 1 0 0 0 1
LAMA2 0 1 0 0 0 1
LOC106113036, NF1 0 0 0 0 1 1
MOGS 0 1 0 0 0 1
MYPN 0 1 0 0 0 1
NFIX 0 1 0 0 0 1
NSD2 0 1 0 0 0 1
NUP205 0 0 1 0 0 1
PCCA 1 0 0 0 0 1
PGAP1 0 1 0 0 0 1
PGAP3 0 1 0 0 0 1
PGK1 0 0 1 0 0 1
PGM1 0 1 0 0 0 1
PIGA 0 0 1 0 0 1
PPIB, SNX22 1 0 0 0 0 1
PRX 1 0 0 0 0 1
PSMD12 0 1 0 0 0 1
PTEN 1 0 0 0 0 1
RAF1 0 0 1 0 0 1
SCAF4 0 1 0 0 0 1
SLC16A1 1 0 0 0 0 1
SLC18A2 1 0 0 0 0 1
SLC22A5 0 1 0 0 0 1
SMPD1 0 1 0 0 0 1
SRCAP 0 1 0 0 0 1
STAG1 0 1 0 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 1 0 0 1
ZNF142 0 1 0 0 0 1
ZNF292 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 53
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 2 0 0 2
Glycogen storage disease, type II 0 0 2 0 0 2
ALDH18A1-related de Barsy syndrome 0 1 0 0 0 1
ALG12-congenital disorder of glycosylation 0 1 0 0 0 1
Bannayan-Riley-Ruvalcaba syndrome 1 0 0 0 0 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 1 0 0 0 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 0 1 0 0 1
Cardiofaciocutaneous syndrome 1 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4F 1 0 0 0 0 1
Citrullinemia type I 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 17 1 0 0 0 0 1
Congenital disorder of glycosylation, type 2v 0 1 0 0 0 1
Congenital myopathy 18 0 1 0 0 0 1
Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II 0 0 1 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 0 0 0 1 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 1 0 0 0 1
Dilated cardiomyopathy 1NN 0 0 1 0 0 1
Fliedner-Zweier syndrome 0 1 0 0 0 1
Fructose-biphosphatase deficiency 1 0 0 0 0 1
Fucosidosis 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 1 0 0 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Hemorrhage, intracerebral, susceptibility to 0 0 1 0 0 1
Hereditary spastic paraplegia 77 0 0 1 0 0 1
Hyperekplexia 4 0 0 1 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 0 1 0 0 1
Intellectual disability, autosomal dominant 34 0 0 0 1 0 1
Intellectual disability, autosomal dominant 47 0 1 0 0 0 1
Intellectual disability, autosomal recessive 42 0 1 0 0 0 1
Intellectual disability, autosomal recessive 65 0 1 0 0 0 1
Joubert syndrome 21 1 0 0 0 0 1
Ketoacidosis due to monocarboxylate transporter-1 deficiency 1 0 0 0 0 1
Leber congenital amaurosis 7 1 0 0 0 0 1
MOGS-congenital disorder of glycosylation 0 1 0 0 0 1
MYPN-related myopathy 0 1 0 0 0 1
Malan overgrowth syndrome 0 1 0 0 0 1
Maple syrup urine disease 1 0 0 0 0 1
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-D 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 1 0 0 1
Nephrotic syndrome, type 13 0 0 1 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 0 0 0 1
Neurofibromatosis, type 1 0 0 0 0 1 1
Niemann-Pick disease, type B 0 1 0 0 0 1
Non-ketotic hyperglycinemia 1 0 0 0 0 1
Osteogenesis imperfecta type 9 1 0 0 0 0 1
PGM1-congenital disorder of glycosylation 0 1 0 0 0 1
Parkinsonism-dystonia, infantile, 2 1 0 0 0 0 1
Propionic acidemia 1 0 0 0 0 1
Rauch-Steindl syndrome 0 1 0 0 0 1
Renal carnitine transport defect 0 1 0 0 0 1
Stankiewicz-Isidor syndrome 0 1 0 0 0 1

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