ClinVar Miner

Variants from Istanbul Faculty of Medicine, Istanbul University

Location: Turkey  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
55 25 12 0 0 92

Gene and significance breakdown #

Total genes and gene combinations: 50
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
FANCA 4 2 4 10
RUNX2 4 3 1 8
COL1A1 4 1 0 5
JAG1 4 1 0 5
GALT 2 1 1 4
NOTCH3 0 3 1 4
COL1A2 1 2 0 3
AARS2, POLR1C 2 0 0 2
CRLF1 1 1 0 2
DLK1 0 1 1 2
DNAH9 2 0 0 2
EARS2 1 1 0 2
ECHS1 2 0 0 2
KLHL7 2 0 0 2
NEB 0 0 2 2
OXCT1 2 0 0 2
RAPSN 2 0 0 2
ACTC1, GJD2-DT 1 0 0 1
ALG8 1 0 0 1
BEND4 0 0 1 1
BLTP1 1 0 0 1
BRIP1 0 1 0 1
COG6 1 0 0 1
CUL7 1 0 0 1
DCX 1 0 0 1
DNAJC21 1 0 0 1
FANCA, LOC130059837 1 0 0 1
FANCA, ZNF276 0 0 1 1
FANCE 0 1 0 1
FANCF 1 0 0 1
FREM2 0 1 0 1
GALT, LOC130001683 1 0 0 1
GHRHR 1 0 0 1
HEXA 0 1 0 1
HSPG2 0 1 0 1
HTRA1 0 1 0 1
KLHL40 1 0 0 1
LOC109611589, RUNX2 0 1 0 1
LOC126859871, PRKN 1 0 0 1
LOC129993734, RETREG1 1 0 0 1
LRRK2 1 0 0 1
NDUFAF6 1 0 0 1
NEB, RIF1 1 0 0 1
P3H1 1 0 0 1
PSAT1 0 1 0 1
RELN 1 0 0 1
RUNX2, SUPT3H 1 0 0 1
SMARCAL1 1 0 0 1
USP14 1 0 0 1
WASHC5 0 1 0 1

Condition and significance breakdown #

Total conditions: 45
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Fanconi anemia complementation group A 5 2 5 12
Cleidocranial dysostosis 5 4 1 10
Osteogenesis imperfecta, perinatal lethal 4 3 0 7
Alagille syndrome due to a JAG1 point mutation 4 1 0 5
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 3 1 1 5
Arthrogryposis multiplex congenita 6 1 0 2 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 3 0 3
Central precocious puberty 0 1 1 2
Cold-induced sweating syndrome 1 1 1 0 2
Combined oxidative phosphorylation defect type 8 2 0 0 2
Congenital heart disease 2 0 0 2
Fetal akinesia deformation sequence 2 2 0 0 2
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 1 0 2
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2 0 0 2
PERCHING syndrome 2 0 0 2
Succinyl-CoA acetoacetate transferase deficiency 2 0 0 2
3M syndrome 1 1 0 0 1
ALG8 congenital disorder of glycosylation 1 0 0 1
Alkuraya-Kucinskas syndrome 1 0 0 1
Arthrogryposis 1 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 1
Bone marrow failure syndrome 3 1 0 0 1
CARASIL syndrome 0 1 0 1
COG6-ongenital disorder of glycosylation 1 0 0 1
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 0 0 1 1
Distal arthrogryposis and CNS involvement 1 0 0 1
Familial acute necrotizing encephalopathy 0 0 1 1
Fanconi anemia complementation group E 0 1 0 1
Fanconi anemia complementation group F 1 0 0 1
Fanconi anemia complementation group J 0 1 0 1
Fraser syndrome 2 0 1 0 1
Interstitial pulmonary disease 1 0 0 1
Isolated growth hormone deficiency, type 4 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 17 1 0 0 1
Nemaline myopathy 8 1 0 0 1
Neu-Laxova syndrome 2 0 1 0 1
Neuropathy, hereditary sensory and autonomic, type 2B 1 0 0 1
Norman-Roberts syndrome 1 0 0 1
Osteogenesis imperfecta type 8 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 1
Ritscher-Schinzel syndrome 1 0 1 0 1
Schimke immuno-osseous dysplasia 1 0 0 1
Schwartz-Jampel syndrome type 1 0 1 0 1
Tay-Sachs disease 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.