ClinVar Miner

Variants from Ege University Pediatric Genetics, Ege University

Location: Turkey  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
26 6 28 0 0 60

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
AGL 3 0 3 6
DBT 1 0 1 2
GCDH 0 0 2 2
GLDC 1 0 1 2
L1CAM 2 0 0 2
MPV17 1 0 1 2
NAGLU 0 0 2 2
PCCA 1 1 0 2
PEX1 1 0 1 2
PLEC 0 0 2 2
VIPAS39 2 0 0 2
ABCB11 0 0 1 1
ABCB4 1 0 0 1
ADA, LOC107303343 0 1 0 1
AHI1 0 0 1 1
AMT 0 0 1 1
ATM 1 0 0 1
ATM, C11orf65 1 0 0 1
ATP7A 0 0 1 1
CLN5 0 1 0 1
COL1A1 1 0 0 1
COL1A2 0 0 1 1
CPT1A 0 0 1 1
CRLF1, LOC112543470 1 0 0 1
DDB2 0 1 0 1
ERCC8 1 0 0 1
EVC 1 0 0 1
FRAS1 1 0 0 1
GALC 0 0 1 1
GJC2 0 1 0 1
GNPTAB 0 0 1 1
HEXB 0 0 1 1
IDUA 0 0 1 1
LOC130065793, RAB5IF, TGIF2-RAB5IF 0 1 0 1
P3H1 1 0 0 1
PCDH19 0 0 1 1
PLCE1 1 0 0 1
POMT1 1 0 0 1
PYGM 0 0 1 1
RAB3GAP1 1 0 0 1
RPS6KA3 1 0 0 1
SLC25A20 0 0 1 1
SRD5A3 0 0 1 1
TMEM67 0 0 1 1
XPC 1 0 0 1

Condition and significance breakdown #

Total conditions: 42
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Condition pathogenic likely pathogenic uncertain significance total
Glycogen storage disease IIIa 3 0 3 6
Non-ketotic hyperglycinemia 1 0 2 3
Arthrogryposis, renal dysfunction, and cholestasis 1 2 0 0 2
Ataxia telangiectasi 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 2 2
Glutaric aciduria, type 1 0 0 2 2
L1 syndrome 2 0 0 2
Maple syrup urine disease type 2 1 0 1 2
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 1 2
Mucopolysaccharidosis, MPS-III-B 0 0 2 2
Osteogenesis imperfecta 2 0 0 2
Peroxisome biogenesis disorder 1 0 1 2
Propionic acidemia 1 1 0 2
Carnitine acylcarnitine translocase deficiency 0 0 1 1
Carnitine palmitoyl transferase 1A deficiency 0 0 1 1
Cockayne syndrome type 1 1 0 0 1
Coffin-Lowry syndrome 1 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 0 1 0 1
Crisponi/Cold-induced sweating syndrome 1 0 0 1
Developmental and epileptic encephalopathy, 9 0 0 1 1
Ehlers-danlos syndrome, arthrochalasia type, 2 0 0 1 1
Ellis-van Creveld syndrome 1 0 0 1
Fraser syndrome 1 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 1
Glycogen storage disease, type V 0 0 1 1
Joubert syndrome 3 0 0 1 1
Joubert syndrome 6 0 0 1 1
Menkes kinky-hair syndrome 0 0 1 1
Mucolipidosis type II 0 0 1 1
Mucopolysaccharidosis, MPS-I-S 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 0 0 1
Nephrotic syndrome, type 3 1 0 0 1
Neuronal ceroid lipofuscinosis 5 0 1 0 1
Pelizaeus-Merzbacher disease 0 1 0 1
Progressive familial intrahepatic cholestasis type 2 0 0 1 1
Progressive familial intrahepatic cholestasis type 3 1 0 0 1
SRD5A3-congenital disorder of glycosylation 0 0 1 1
Sandhoff disease 0 0 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 1 0 1
Warburg micro syndrome 1 1 0 0 1
Xeroderma pigmentosum, group C 1 0 0 1
Xeroderma pigmentosum, group E 0 1 0 1

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