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
16 27 20 1 2 66

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GAA 0 0 2 0 0 2
RAF1 0 0 2 0 0 2
TTN 0 0 2 0 0 2
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 1
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
ATP1A1 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
CUL3 0 1 0 0 0 1
DYSF 0 0 1 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
IVD 1 0 0 0 0 1
KDM5B 0 1 0 0 0 1
KIF1B 0 0 1 0 0 1
LAMA2 0 1 0 0 0 1
LOC106113036, NF1 0 0 0 0 1 1
MCOLN1 0 1 0 0 0 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
PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4 0 1 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
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
SLC25A4 0 0 1 0 0 1
SMPD1 0 1 0 0 0 1
SPG11 0 0 1 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: 64
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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
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 1 0 0 0 1
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
Brain dopamine-serotonin vesicular transport disease 1 0 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 2A1 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4F 1 0 0 0 0 1
Charcot-marie-tooth disease, axonal, type 2DD; Hypomagnesemia, seizures, and intellectual disability 2 0 0 1 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
Glycine encephalopathy 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 11 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
Isovaleryl-CoA dehydrogenase deficiency 1 0 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
LEOPARD syndrome 2; Noonan syndrome 5 0 0 1 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
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B 0 0 1 0 0 1
Mucolipidosis type IV 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
Neurodevelopmental disorder with or without autism or seizures 0 1 0 0 0 1
Neurodevelopmental disorder with poor growth and skeletal anomalies 0 1 0 0 0 1
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 0 0 0 1
Neurofibromatosis, type 1 0 0 0 0 1 1
Niemann-Pick disease, type B 0 1 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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 0 0 1 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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