ClinVar Miner

Variants in gene WFS1

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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 not provided total
54 35 234 190 80 2 483

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 80 145 76 0 259
not provided 10 27 114 10 14 0 169
WFS1-Related Spectrum Disorders 4 1 49 52 14 0 120
Nonsyndromic Hearing Loss, Dominant 0 0 47 50 13 0 110
Monogenic diabetes 0 0 21 8 7 0 36
Diabetes mellitus AND insipidus with optic atrophy AND deafness 21 2 3 0 0 0 26
Cataract 41; Diabetes mellitus AND insipidus with optic atrophy AND deafness; WFS1-Related Disorders; Diabetes mellitus type 2; Wolfram-like syndrome, autosomal dominant 0 0 15 0 0 0 15
WFS1-Related Disorders 8 1 5 0 0 0 14
Nonsyndromic hearing loss and deafness 9 2 0 0 0 0 11
Wolfram syndrome 3 4 0 0 0 0 7
Wolfram-like syndrome, autosomal dominant 6 0 0 0 0 0 6
Autistic behavior 0 0 2 0 0 0 2
Cataract 41 1 0 1 0 0 0 2
Diabetes mellitus AND insipidus with optic atrophy AND deafness; WFS1-Related Disorders; Wolfram-like syndrome, autosomal dominant 0 0 0 0 0 2 2
Diabetes mellitus, noninsulin-dependent, association with 2 0 0 0 0 0 2
DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss 1 0 0 0 0 0 1
Dandy-Walker syndrome; Laryngomalacia; Sensorineural hearing loss; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Nyctalopia; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Duane anomaly; Small hand; Cleft palate 1 0 0 0 0 0 1
Diabetes mellitus type 2 1 0 0 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 9 20 50 82 48 0 209
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 2 69 53 63 0 197
Illumina Clinical Services Laboratory,Illumina 4 0 49 53 14 0 120
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 3 47 10 33 0 95
PreventionGenetics 0 0 0 11 28 0 39
Genetic Services Laboratory, University of Chicago 3 4 7 15 9 0 38
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 21 8 7 0 36
OMIM 32 0 0 0 0 0 32
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 9 3 16 0 28
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 22 4 0 0 27
Fulgent Genetics 0 0 15 0 0 0 15
Gharavi Laboratory,Columbia University 0 2 6 0 0 0 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 2 1 2 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 3 1 0 5
Baylor Miraca Genetics Laboratories, 1 1 2 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Ambry Genetics 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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