WFS1 (wolframin ER transmembrane glycoprotein) - Rat Genome Database

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Advanced Search (OLGA)
Gene: WFS1 (wolframin ER transmembrane glycoprotein) Homo sapiens
Analyze
Symbol: WFS1
Name: wolframin ER transmembrane glycoprotein
RGD ID: 731649
HGNC Page HGNC:12762
Description: Enables ATPase binding activity; protein carrier chaperone; and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of ATF6-mediated unfolded protein response; negative regulation of apoptotic process; and protein stabilization. Located in endoplasmic reticulum membrane and secretory granule. Implicated in several diseases, including Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CTRCT41; FLJ51211; WFRS; WFS; WFSL; Wolfram syndrome 1 (wolframin); wolframin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3846,269,850 - 6,303,265 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl46,269,849 - 6,303,265 (+)EnsemblGRCh38hg38GRCh38
GRCh3746,271,577 - 6,304,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3646,322,478 - 6,355,893 (+)NCBINCBI36Build 36hg18NCBI36
Build 3446,389,648 - 6,423,064NCBI
Celera46,172,234 - 6,205,670 (+)NCBICelera
Cytogenetic Map4p16.1NCBI
HuRef46,205,316 - 6,238,436 (+)NCBIHuRef
CHM1_146,269,525 - 6,302,942 (+)NCBICHM1_1
T2T-CHM13v2.046,243,866 - 6,277,297 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
aconitine  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
lead(0)  (EXP)
maneb  (ISO)
methidathion  (ISO)
N,N-diethyl-m-toluamide  (ISO)
nitrofen  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (EXP)
propanal  (EXP)
resveratrol  (ISO)
silicon dioxide  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
tolcapone  (ISO)
tunicamycin  (EXP,ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
calcium ion homeostasis  (IBA,IDA,IEA)
endoplasmic reticulum calcium ion homeostasis  (IDA)
endoplasmic reticulum unfolded protein response  (IBA,IEA)
ER overload response  (IDA,TAS)
ERAD pathway  (IDA,IEA,ISS)
glucose homeostasis  (IMP)
intrinsic apoptotic signaling pathway  (ISO)
kidney development  (IMP)
negative regulation of apoptotic process  (IMP)
negative regulation of ATF6-mediated unfolded protein response  (IDA,IEA)
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (IEA)
negative regulation of intrinsic apoptotic signaling pathway  (ISO)
negative regulation of neuron apoptotic process  (IMP)
negative regulation of programmed cell death  (IMP)
negative regulation of response to endoplasmic reticulum stress  (IMP)
negative regulation of transcription by RNA polymerase II  (IDA,IEA)
negative regulation of translation  (IEA)
negative regulation of type B pancreatic cell apoptotic process  (IEA,IMP)
nervous system process  (IMP)
olfactory behavior  (IEA,ISO)
pancreas development  (IEA,ISO)
positive regulation of calcium ion transport  (IDA)
positive regulation of ERAD pathway  (IEA)
positive regulation of growth  (IEA,ISS)
positive regulation of protein metabolic process  (IDA)
positive regulation of protein ubiquitination  (IDA,IEA,ISS)
protein stabilization  (IDA,IEA,IMP,ISS,TAS)
renal water homeostasis  (IMP)
response to endoplasmic reticulum stress  (IDA,IEA)
sensory perception of sound  (IMP)
visual perception  (IMP)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal mesentery morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the diaphragm  (IAGP)
Abnormality of the upper urinary tract  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the vertebral column  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Arachnodactyly  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral perisylvian polymicrogyria  (IAGP)
Blind-spot enlargement  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Cleft palate  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Constipation  (IAGP)
Delayed puberty  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Diabetes insipidus  (IAGP)
Diabetes mellitus  (IAGP)
Diaphragmatic eventration  (IAGP)
Duane anomaly  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysuria  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastric ulcer  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Glucose intolerance  (IAGP)
Growth delay  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypogonadism  (IAGP)
Hypothyroidism  (IAGP)
Impaired glucose tolerance  (IAGP)
Increased waist to hip ratio  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Laryngomalacia  (IAGP)
Late onset  (IAGP)
Limited mobility of proximal interphalangeal joint  (IAGP)
Low-frequency sensorineural hearing impairment  (IAGP)
Malabsorption  (IAGP)
Male hypogonadism  (IAGP)
Megaloblastic anemia  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Myopathy  (IAGP)
Nephropathy  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neurogenic bladder  (IAGP)
Nuclear cataract  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Pigmentary retinopathy  (IAGP)
Polydipsia  (IAGP)
Primary gonadal insufficiency  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive hearing impairment  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced visual acuity  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal dystrophy  (IAGP)
Retinopathy  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Severely reduced visual acuity  (IAGP)
Sideroblastic anemia  (IAGP)
Sleep abnormality  (IAGP)
Small hand  (IAGP)
Spastic ataxia  (IAGP)
Stroke-like episode  (IAGP)
Testicular atrophy  (IAGP)
Thrombocytopenia  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. Awata T, etal., Biochem Biophys Res Commun. 2000 Feb 16;268(2):612-6.
2. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Bespalova IN, etal., Hum Mol Genet. 2001 Oct 15;10(22):2501-8.
3. A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients. Chistiakov DA, etal., Rev Diabet Stud. 2010 Winter;7(4):285-92. doi: 10.1900/RDS.2010.7.285. Epub 2011 Feb 10.
4. The wolframin His611Arg polymorphism influences medication overuse headache. Di Lorenzo C, etal., Neurosci Lett. 2007 Sep 13;424(3):179-84. Epub 2007 Aug 6.
5. WFS1 mutations in Spanish patients with diabetes mellitus and deafness. Domenech E, etal., Eur J Hum Genet. 2002 Jul;10(7):421-6.
6. Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. Florez JC, etal., Diabetologia. 2008 Mar;51(3):451-7. Epub 2007 Dec 4.
7. Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. Franks PW, etal., Diabetologia. 2008 Mar;51(3):458-63. Epub 2007 Nov 27.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Inoue H, etal., Nat Genet. 1998 Oct;20(2):143-8.
10. Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. Ishihara H, etal., Hum Mol Genet. 2004 Jun 1;13(11):1159-70. Epub 2004 Mar 31.
11. WFS1 gene as a putative biomarker for development of post-traumatic syndrome in an animal model. Kesner Y, etal., Mol Psychiatry. 2009 Jan;14(1):86-94. Epub 2007 Oct 30.
12. WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims. Kytovuori L, etal., J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18.
13. Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene. Larsen ZM, etal., Diabet Med. 2004 Mar;21(3):218-22.
14. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Minton JA, etal., Diabetes. 2002 Apr;51(4):1287-90.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes. Peng D, etal., Sci Rep. 2017 Aug 18;7(1):8812. doi: 10.1038/s41598-017-09010-w.
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. Plaas M, etal., Sci Rep. 2017 Aug 31;7(1):10220. doi: 10.1038/s41598-017-09392-x.
19. Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Rendtorff ND, etal., Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28.
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome. Toots M, etal., Sci Rep. 2018 Jul 5;8(1):10183. doi: 10.1038/s41598-018-28314-z.
24. The microtubule interacting drug candidate NAP protects against kainic acid toxicity in a rat model of epilepsy. Zemlyak I, etal., J Neurochem. 2009 Dec;111(5):1252-63. doi: 10.1111/j.1471-4159.2009.06415.x. Epub 2009 Oct 3.
Additional References at PubMed
PMID:7987399   PMID:8595423   PMID:9817917   PMID:10424813   PMID:10521293   PMID:10624825   PMID:10760554   PMID:11161832   PMID:11181517   PMID:11181571   PMID:11295831   PMID:11317350  
PMID:11709538   PMID:11920861   PMID:12073007   PMID:12477932   PMID:12605098   PMID:12650912   PMID:12707947   PMID:12754709   PMID:12782971   PMID:12913071   PMID:12955714   PMID:14527944  
PMID:14968315   PMID:15234338   PMID:15277431   PMID:15473915   PMID:15489334   PMID:15605410   PMID:15852062   PMID:15912360   PMID:15994758   PMID:16005363   PMID:16043233   PMID:16087305  
PMID:16151413   PMID:16169070   PMID:16195229   PMID:16408729   PMID:16550584   PMID:16806192   PMID:16876316   PMID:16965966   PMID:16989814   PMID:17492394   PMID:17517145   PMID:17568405  
PMID:17603484   PMID:17947299   PMID:18197395   PMID:18212765   PMID:18426861   PMID:18518985   PMID:18544103   PMID:18566338   PMID:18568334   PMID:18591388   PMID:18597214   PMID:18660851  
PMID:18688868   PMID:18694974   PMID:18806274   PMID:18853134   PMID:18984664   PMID:18991055   PMID:19020324   PMID:19042979   PMID:19082521   PMID:19115052   PMID:19139842   PMID:19258404  
PMID:19258739   PMID:19279076   PMID:19324937   PMID:19328217   PMID:19330314   PMID:19380854   PMID:19502414   PMID:19598235   PMID:19602701   PMID:19720844   PMID:19734900   PMID:19741467  
PMID:19794065   PMID:19814620   PMID:19833888   PMID:19862325   PMID:19877185   PMID:19913121   PMID:20028947   PMID:20069065   PMID:20160352   PMID:20203524   PMID:20215779   PMID:20301317  
PMID:20301607   PMID:20301750   PMID:20361036   PMID:20384434   PMID:20490451   PMID:20509872   PMID:20571754   PMID:20580033   PMID:20581827   PMID:20628086   PMID:20712903   PMID:20802253  
PMID:20816152   PMID:20879858   PMID:20889853   PMID:21044950   PMID:21127832   PMID:21143470   PMID:21356526   PMID:21454619   PMID:21564155   PMID:21623591   PMID:21632151   PMID:21823543  
PMID:21873635   PMID:21900206   PMID:21968327   PMID:22240535   PMID:22498363   PMID:22662265   PMID:22781099   PMID:22810586   PMID:23035048   PMID:23103830   PMID:23144361   PMID:23257691  
PMID:23373429   PMID:23499253   PMID:23531866   PMID:23650218   PMID:23710284   PMID:23845777   PMID:23903355   PMID:24117146   PMID:24462114   PMID:24509480   PMID:24588001   PMID:24909696  
PMID:25074416   PMID:25211237   PMID:25250959   PMID:25255707   PMID:25274773   PMID:25740874   PMID:25764693   PMID:25800097   PMID:26169481   PMID:26186194   PMID:26426397   PMID:26638075  
PMID:26773575   PMID:26871637   PMID:26875006   PMID:26943604   PMID:27377286   PMID:27395765   PMID:27412528   PMID:27432908   PMID:27468121   PMID:27684187   PMID:28039263   PMID:28271504  
PMID:28298427   PMID:28419064   PMID:28468959   PMID:28514442   PMID:28692057   PMID:28802351   PMID:28974383   PMID:29180619   PMID:29258540   PMID:29357349   PMID:29447883   PMID:29507755  
PMID:29509190   PMID:29529044   PMID:29626590   PMID:30014265   PMID:30305294   PMID:30957632   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31363008   PMID:31477210   PMID:31536960  
PMID:31658956   PMID:31759989   PMID:31871319   PMID:31932471   PMID:31937257   PMID:32219690   PMID:32296183   PMID:32382995   PMID:32423001   PMID:32567228   PMID:32788342   PMID:32807901  
PMID:32814053   PMID:32938580   PMID:32941674   PMID:33179441   PMID:33693650   PMID:33845483   PMID:33882198   PMID:33957083   PMID:33961781   PMID:34006618   PMID:34079125   PMID:34133072  
PMID:34186245   PMID:34258273   PMID:34349018   PMID:34360843   PMID:34404380   PMID:34432599   PMID:34792487   PMID:34848728   PMID:35018440   PMID:35271311   PMID:35469785   PMID:35696571  
PMID:35944360   PMID:36215168   PMID:36244648   PMID:36445321   PMID:36764396   PMID:36958120   PMID:36980809   PMID:37071682   PMID:37163979   PMID:37277527   PMID:37314216   PMID:37440664  
PMID:37859980   PMID:37931151   PMID:38569033   PMID:38721948   PMID:39358380   PMID:39363032  


Genomics

Comparative Map Data
WFS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3846,269,850 - 6,303,265 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl46,269,849 - 6,303,265 (+)EnsemblGRCh38hg38GRCh38
GRCh3746,271,577 - 6,304,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3646,322,478 - 6,355,893 (+)NCBINCBI36Build 36hg18NCBI36
Build 3446,389,648 - 6,423,064NCBI
Celera46,172,234 - 6,205,670 (+)NCBICelera
Cytogenetic Map4p16.1NCBI
HuRef46,205,316 - 6,238,436 (+)NCBIHuRef
CHM1_146,269,525 - 6,302,942 (+)NCBICHM1_1
T2T-CHM13v2.046,243,866 - 6,277,297 (+)NCBIT2T-CHM13v2.0
Wfs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39537,123,448 - 37,146,326 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl537,123,448 - 37,146,549 (-)EnsemblGRCm39 Ensembl
GRCm38536,966,104 - 36,988,982 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl536,966,104 - 36,989,205 (-)EnsemblGRCm38mm10GRCm38
MGSCv37537,357,343 - 37,380,221 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36537,254,356 - 37,277,158 (-)NCBIMGSCv36mm8
Celera534,417,849 - 34,440,871 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map519.46NCBI
Wfs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81478,035,205 - 78,059,718 (+)NCBIGRCr8
mRatBN7.21473,810,478 - 73,834,993 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1473,810,404 - 73,835,602 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1478,251,934 - 78,276,445 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01479,492,790 - 79,517,297 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01475,937,753 - 75,962,260 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01478,640,707 - 78,665,224 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1478,640,620 - 78,665,966 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01478,606,172 - 78,630,689 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41479,379,680 - 79,404,003 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11479,389,637 - 79,406,394 (+)NCBI
Celera1472,756,725 - 72,781,236 (+)NCBICelera
Cytogenetic Map14q21NCBI
Wfs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555143,902,454 - 3,924,610 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555143,902,508 - 3,924,281 (-)NCBIChiLan1.0ChiLan1.0
WFS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v236,541,382 - 6,574,914 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan146,470,175 - 6,503,684 (+)NCBINHGRI_mPanPan1
PanPan1.146,345,960 - 6,379,094 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl46,345,864 - 6,379,287 (+)Ensemblpanpan1.1panPan2
WFS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11338,451,722 - 38,466,481 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1338,451,710 - 38,475,827 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1338,428,703 - 38,449,916 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,942,257 - 38,963,449 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,942,257 - 38,968,827 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11338,633,035 - 38,659,609 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,742,939 - 38,764,184 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01339,217,791 - 39,239,032 (-)NCBIUU_Cfam_GSD_1.0
Wfs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528564,638,197 - 64,663,281 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647718,339,827 - 18,364,998 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647718,339,915 - 18,364,973 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WFS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl84,362,680 - 4,385,273 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.184,362,678 - 4,405,185 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.282,954,118 - 2,962,286 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WFS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12742,404,028 - 42,437,988 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2742,404,084 - 42,438,005 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604789,197,417 - 89,231,280 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wfs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475522,824,143 - 22,841,850 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475522,818,653 - 22,841,717 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WFS1
1830 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs) deletion Wolfram syndrome 1 [RCV000023511] Chr4:6301726..6301733 [GRCh38]
Chr4:6303453..6303460 [GRCh37]
Chr4:4p16.1		 pathogenic
WFS1, ARG228GLN variation Wolfram-like syndrome, autosomal dominant [RCV000023512] Chr4:4p16.1 pathogenic
WFS1, LYS836ASN single nucleotide variant Wolfram-like syndrome, autosomal dominant [RCV000023513] Chr4:4p16.1 pathogenic
V415del deletion Wolfram syndrome 1 [RCV000023516] Chr4:4p16.1 pathogenic
WFS1, 4-BP DEL, 1387CTCT deletion Wolfram syndrome 1 [RCV000023517] Chr4:4p16.1 pathogenic
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) duplication Retinal dystrophy [RCV004814825]|Type 2 diabetes mellitus [RCV001542530]|WFS1-Related Spectrum Disorders [RCV000778736]|Wolfram syndrome 1 [RCV000004777]|Wolfram syndrome [RCV000499974]|not provided [RCV001385126] Chr4:6289078..6289079 [GRCh38]
Chr4:6290805..6290806 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) deletion Wolfram syndrome 1 [RCV000004772] Chr4:6301175..6301183 [GRCh38]
Chr4:6302902..6302910 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.460+1G>A single nucleotide variant Wolfram syndrome 1 [RCV000004773]|not provided [RCV001588798] Chr4:6289132 [GRCh38]
Chr4:6290859 [GRCh37]
Chr4:4p16.1		 pathogenic
WFS1, 4-BP DEL, NT2648 AND Diabetes mellitus AND insipidus with optic atrophy deletion Diabetes mellitus AND insipidus with optic atrophy AND deafness [RCV000004776] Chr4:4p16.1 pathogenic
WFS1, 16-BP DEL, NT1362 deletion Wolfram syndrome 1 [RCV000004783] Chr4:4p16.1 pathogenic
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) indel Wolfram syndrome 1 [RCV003148856]|not provided [RCV000722519]|not specified [RCV001816793] Chr4:6302358..6302360 [GRCh38]
Chr4:6304085..6304087 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) single nucleotide variant Dandy-Walker syndrome [RCV000735330]|Inborn genetic diseases [RCV002536536]|not provided [RCV002263960] Chr4:6301794 [GRCh38]
Chr4:6303521 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
WFS1, 2-BP DEL, 2812TC deletion Wolfram syndrome 1 [RCV000004765] Chr4:4p16.1 pathogenic
WFS1, 15-BP DEL, NT1685 deletion Wolfram syndrome 1 [RCV000004766] Chr4:4p16.1 pathogenic
WFS1, 7-BP INS, NT1610 insertion Wolfram syndrome 1 [RCV000004771] Chr4:4p16.1 pathogenic
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) single nucleotide variant Cataract 41 [RCV000723288]|Cataract 41 [RCV002485847]|WFS1-related disorder [RCV004535807]|not provided [RCV001700452] Chr4:6302289 [GRCh38]
Chr4:6304016 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.615C>G (p.Gly205=) single nucleotide variant not provided [RCV000729921] Chr4:6291351 [GRCh38]
Chr4:6293078 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153358]|Cataract 41 [RCV005034337]|WFS1-Related Spectrum Disorders [RCV001153357]|Wolfram syndrome 1 [RCV002468026]|not provided [RCV000722247] Chr4:6301788 [GRCh38]
Chr4:6303515 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1613T>C (p.Phe538Ser) single nucleotide variant Wolfram syndrome 1 [RCV003126921]|not provided [RCV000722408] Chr4:6301408 [GRCh38]
Chr4:6303135 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) single nucleotide variant Cataract 41 [RCV005036043]|Wolfram syndrome 1 [RCV004788150]|not provided [RCV000727902] Chr4:6300772 [GRCh38]
Chr4:6302499 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2532C>T (p.Ala844=) single nucleotide variant Wolfram syndrome 1 [RCV003147518]|not specified [RCV000602823] Chr4:6302327 [GRCh38]
Chr4:6304054 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) single nucleotide variant Wolfram syndrome 1 [RCV000004769]|not provided [RCV003114176] Chr4:6301739 [GRCh38]
Chr4:6303466 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2201T>A (p.Leu734His) single nucleotide variant Wolfram syndrome 1 [RCV003126923]|not provided [RCV000729131] Chr4:6301996 [GRCh38]
Chr4:6303723 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155662]|WFS1-Related Spectrum Disorders [RCV001155663]|not provided [RCV000132655]|not specified [RCV001195409] Chr4:6301029 [GRCh38]
Chr4:6302756 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000264975]|WFS1-Related Spectrum Disorders [RCV000324875]|Wolfram syndrome 1 [RCV000490497]|not provided [RCV000132656]|not specified [RCV000155350] Chr4:6302004 [GRCh38]
Chr4:6302004..6302005 [GRCh38]
Chr4:6303731 [GRCh37]
Chr4:6303731..6303732 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2119G>T (p.Val707Phe) single nucleotide variant not provided [RCV003778168] Chr4:6301914 [GRCh38]
Chr4:6303641 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001542531]|Autosomal dominant nonsyndromic hearing loss [RCV004808555]|Inborn genetic diseases [RCV000623116]|Optic atrophy [RCV004814922]|WFS1-related disorder [RCV002280094]|Wolfram syndrome 1 [RCV000023515]|Wolfram syndrome 1 [RCV000605882]|Wolfram-like syndrome [RCV000023514]|not provided [RCV000200668] Chr4:6301846 [GRCh38]
Chr4:6303573 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser) single nucleotide variant Wolfram-like syndrome [RCV000023518]|not provided [RCV001762055] Chr4:6302133 [GRCh38]
Chr4:6303860 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) single nucleotide variant Wolfram syndrome 1 [RCV000004767]|not provided [RCV000756934] Chr4:6301966 [GRCh38]
Chr4:6303693 [GRCh37]
Chr4:4p16.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) single nucleotide variant Cataract 41 [RCV005031390]|Wolfram syndrome 1 [RCV000004768]|not provided [RCV005089167] Chr4:6301879 [GRCh38]
Chr4:6303606 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) single nucleotide variant Cataract 41 [RCV002496259]|WFS1-related disorder [RCV004737135]|Wolfram syndrome 1 [RCV000004770]|Wolfram syndrome 1 [RCV002243622]|not provided [RCV001387727] Chr4:6301306 [GRCh38]
Chr4:6303033 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) single nucleotide variant Wolfram syndrome 1 [RCV000004774] Chr4:6291961 [GRCh38]
Chr4:6293688 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) single nucleotide variant Wolfram syndrome 1 [RCV000004775] Chr4:6302250 [GRCh38]
Chr4:6303977 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000004778]|Rare genetic deafness [RCV000599627]|not provided [RCV000522349] Chr4:6301941 [GRCh38]
Chr4:6303668 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000004779]|Cataract 41 [RCV005041982]|Inborn genetic diseases [RCV001267554]|Wolfram syndrome 1 [RCV003155015]|not provided [RCV000726781] Chr4:6302281 [GRCh38]
Chr4:6304008 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000004780]|not provided [RCV001851653]|not specified [RCV000238945] Chr4:6301891 [GRCh38]
Chr4:6303618 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000004781]|not provided [RCV000521055] Chr4:6302287 [GRCh38]
Chr4:6304014 [GRCh37]
Chr4:4p16.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000004782] Chr4:6301696 [GRCh38]
Chr4:6303423 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000020637]|Autosomal dominant nonsyndromic hearing loss [RCV004794324]|Nonsyndromic genetic hearing loss [RCV001544536]|Rare genetic deafness [RCV000599631]|Retinal dystrophy [RCV004814826]|See cases [RCV004797754]|Wolfram syndrome 1 [RCV001528145]|Wolfram-like syndrome [RCV000004784]|not provided [RCV000523215] Chr4:6302385 [GRCh38]
Chr4:6304112 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.461-9A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000325882]|Type 2 diabetes mellitus [RCV000004785]|WFS1-Related Spectrum Disorders [RCV000273205]|Wolfram syndrome 1 [RCV002225069]|not provided [RCV001513863]|not specified [RCV000038664] Chr4:6291188 [GRCh38]
Chr4:6292915 [GRCh37]
Chr4:4p16.1		 pathogenic|association|benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.713-1075C>G single nucleotide variant Diabetes mellitus, noninsulin-dependent, association with [RCV000004786]|Type 2 diabetes mellitus [RCV001255180]|Wolfram syndrome 1 [RCV000987406]|not provided [RCV000830171]|not specified [RCV001777131] Chr4:6293966 [GRCh38]
Chr4:6295693 [GRCh37]
Chr4:4p16.1		 pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000004787]|Cataract 41 [RCV002490313]|Optic atrophy [RCV004814827]|WFS1-Related Spectrum Disorders [RCV000275899]|WFS1-related disorder [RCV004532289]|not provided [RCV000480362] Chr4:6302371 [GRCh38]
Chr4:6304098 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) single nucleotide variant Monogenic diabetes [RCV001174420]|WFS1-Related Spectrum Disorders [RCV001157341]|Wolfram syndrome 1 [RCV002464095]|not provided [RCV000756927]|not specified [RCV000038636] Chr4:6301072 [GRCh38]
Chr4:6302799 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) single nucleotide variant Cataract 41 [RCV000077875]|not provided [RCV004597741] Chr4:6301180 [GRCh38]
Chr4:6302907 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000319531]|WFS1-Related Spectrum Disorders [RCV000374136]|Wolfram syndrome 1 [RCV002465495]|not provided [RCV001517176]|not specified [RCV000038632] Chr4:6300818 [GRCh38]
Chr4:6302545 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1103G>A (p.Ser368Asn) single nucleotide variant Wolfram syndrome 1 [RCV002509034]|not provided [RCV001775561]|not specified [RCV000038633] Chr4:6300898 [GRCh38]
Chr4:6302625 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000285280]|WFS1-Related Spectrum Disorders [RCV000379830]|Wolfram syndrome 1 [RCV002463626]|not provided [RCV000876661]|not specified [RCV000038634] Chr4:6300929 [GRCh38]
Chr4:6302656 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1185C>T (p.Val395=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000344908]|WFS1-Related Spectrum Disorders [RCV000380942]|Wolfram syndrome 1 [RCV002463627]|not provided [RCV001523397]|not specified [RCV000038635] Chr4:6300980 [GRCh38]
Chr4:6302707 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000394964]|WFS1-Related Spectrum Disorders [RCV000297855]|Wolfram syndrome 1 [RCV003125862]|not provided [RCV000871115]|not specified [RCV000038637] Chr4:6301103 [GRCh38]
Chr4:6302830 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000269758]|WFS1-Related Spectrum Disorders [RCV000363867]|Wolfram syndrome 1 [RCV002464096]|not provided [RCV001523400]|not specified [RCV000038638] Chr4:6301162 [GRCh38]
Chr4:6302889 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) single nucleotide variant Wolfram syndrome 1 [RCV002509035]|not provided [RCV000766857]|not specified [RCV000038639] Chr4:6277598 [GRCh38]
Chr4:6279325 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000384013]|Cataract 41 [RCV002504898]|Monogenic diabetes [RCV000664089]|Optic atrophy [RCV004814957]|WFS1-Related Spectrum Disorders [RCV000329452]|Wolfram syndrome 1 [RCV002464097]|not provided [RCV000870509]|not specified [RCV000038640] Chr4:6301290 [GRCh38]
Chr4:6303017 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000294241]|Type 2 diabetes mellitus [RCV002285139]|WFS1-Related Spectrum Disorders [RCV000330600]|not provided [RCV001513865]|not specified [RCV000038641] Chr4:6301295 [GRCh38]
Chr4:6301295..6301296 [GRCh38]
Chr4:6303022 [GRCh37]
Chr4:6303022..6303023 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000361141]|WFS1-Related Spectrum Disorders [RCV000396690]|not provided [RCV001517177]|not specified [RCV000038642] Chr4:6301520 [GRCh38]
Chr4:6303247 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000307804]|Monogenic diabetes [RCV000445534]|WFS1-Related Spectrum Disorders [RCV000362526]|Wolfram syndrome 1 [RCV002464003]|not provided [RCV000755448]|not specified [RCV000038643] Chr4:6301521 [GRCh38]
Chr4:6303248 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain risk allele
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000374202]|Monogenic diabetes [RCV000445501]|WFS1-Related Spectrum Disorders [RCV000284377]|Wolfram syndrome 1 [RCV002464004]|not provided [RCV000870649]|not specified [RCV000038644] Chr4:6301600 [GRCh38]
Chr4:6303327 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) single nucleotide variant Cataract 41 [RCV002482999]|Inborn genetic diseases [RCV002513506]|Monogenic diabetes [RCV001174424]|not provided [RCV001588853]|not specified [RCV000038645] Chr4:6301615 [GRCh38]
Chr4:6303342 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000339307]|WFS1-Related Spectrum Disorders [RCV000404430]|Wolfram syndrome 1 [RCV000987411]|not provided [RCV001523401]|not specified [RCV000038646] Chr4:6301627 [GRCh38]
Chr4:6301627..6301628 [GRCh38]
Chr4:6303354 [GRCh37]
Chr4:6303354..6303355 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) single nucleotide variant Cataract 41 [RCV005031475]|Inborn genetic diseases [RCV002513507]|Monogenic diabetes [RCV001174425]|Rare genetic deafness [RCV000038647]|Wolfram syndrome 1 [RCV003125863]|not provided [RCV000196272] Chr4:6301681 [GRCh38]
Chr4:6303408 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) single nucleotide variant Cataract 41 [RCV002490526]|Inborn genetic diseases [RCV004018878]|not provided [RCV003546463]|not specified [RCV000038648] Chr4:6301738 [GRCh38]
Chr4:6303465 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000345107]|Monogenic diabetes [RCV000664091]|WFS1-Related Spectrum Disorders [RCV000405887]|Wolfram syndrome 1 [RCV002463628]|not provided [RCV000755449]|not specified [RCV000038649] Chr4:6301807 [GRCh38]
Chr4:6303534 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) single nucleotide variant Rare genetic deafness [RCV000038650] Chr4:6301849 [GRCh38]
Chr4:6303576 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) single nucleotide variant Rare genetic deafness [RCV000038651] Chr4:6301936 [GRCh38]
Chr4:6303663 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000318906]|Cataract 41 [RCV002490527]|WFS1-Related Spectrum Disorders [RCV000378185]|Wolfram syndrome 1 [RCV002463629]|not provided [RCV000876662]|not specified [RCV000038652] Chr4:6301979 [GRCh38]
Chr4:6303706 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.21G>T (p.Pro7=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000403693]|WFS1-Related Spectrum Disorders [RCV000344123]|Wolfram syndrome 1 [RCV002463630]|not provided [RCV001521310]|not specified [RCV000038653] Chr4:6277476 [GRCh38]
Chr4:6279203 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) single nucleotide variant Wolfram syndrome 1 [RCV003125864]|not provided [RCV000876954]|not specified [RCV000038654] Chr4:6301997 [GRCh38]
Chr4:6303724 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000289183]|WFS1-Related Spectrum Disorders [RCV000379444]|Wolfram syndrome 1 [RCV003125865]|not provided [RCV000756929]|not specified [RCV000038655] Chr4:6302042 [GRCh38]
Chr4:6303769 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000315287]|WFS1-Related Spectrum Disorders [RCV000404074]|Wolfram syndrome 1 [RCV002463631]|not provided [RCV001517178]|not specified [RCV000038656] Chr4:6302117 [GRCh38]
Chr4:6303844 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000300529]|Cataract 41 [RCV002496613]|Monogenic diabetes [RCV000664095]|Optic atrophy [RCV004814958]|WFS1-Related Spectrum Disorders [RCV000404342]|Wolfram syndrome 1 [RCV002464005]|not provided [RCV000515097]|not specified [RCV000038657] Chr4:6302130 [GRCh38]
Chr4:6303857 [GRCh37]
Chr4:4p16.1		 pathogenic|benign|likely benign|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) single nucleotide variant Diabetes mellitus [RCV002326743]|Monogenic diabetes [RCV001174385]|WFS1-related disorder [RCV004534817]|not provided [RCV000872827]|not specified [RCV000038661] Chr4:6289021 [GRCh38]
Chr4:6290748 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) microsatellite WFS1-related disorder [RCV004534816]|not provided [RCV000658992]|not specified [RCV000038658] Chr4:6302180..6302181 [GRCh38]
Chr4:6303907..6303908 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000352148]|Diabetes mellitus [RCV002287353]|Sensorineural hearing loss disorder [RCV002287352]|WFS1-Related Spectrum Disorders [RCV000292566]|not provided [RCV001523402]|not specified [RCV000038659] Chr4:6302228 [GRCh38]
Chr4:6303955 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000329623]|WFS1-Related Spectrum Disorders [RCV000272258]|not provided [RCV001523403]|not specified [RCV000038660] Chr4:6302360 [GRCh38]
Chr4:6304087 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.402G>A (p.Ala134=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000362055]|WFS1-Related Spectrum Disorders [RCV000396757]|Wolfram syndrome 1 [RCV002509036]|not provided [RCV000871734]|not specified [RCV000038662] Chr4:6289073 [GRCh38]
Chr4:6290800 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.461-15C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000303369]|WFS1-Related Spectrum Disorders [RCV000365086]|Wolfram syndrome 1 [RCV002464098]|not provided [RCV001513862]|not specified [RCV000038663] Chr4:6291182 [GRCh38]
Chr4:6292909 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.684C>G (p.Arg228=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000319343]|WFS1-Related Spectrum Disorders [RCV000261705]|Wolfram syndrome 1 [RCV002464099]|not provided [RCV001513864]|not specified [RCV000038665] Chr4:6291969 [GRCh38]
Chr4:6293696 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.83A>G (p.Asn28Ser) single nucleotide variant Wolfram syndrome 1 [RCV002509037]|not provided [RCV002513508]|not specified [RCV000038666] Chr4:6277538 [GRCh38]
Chr4:6279265 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.930A>G (p.Ala310=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155561]|Cataract 41 [RCV002496614]|WFS1-Related Spectrum Disorders [RCV001155562]|Wolfram syndrome 1 [RCV002509188]|not provided [RCV000865492]|not specified [RCV000038667] Chr4:6300725 [GRCh38]
Chr4:6302452 [GRCh37]
Chr4:4p16.1		 benign
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val) single nucleotide variant Cataract 41 [RCV005027770]|Spastic ataxia [RCV001644744]|WFS1-related disorder [RCV004737937]|not provided [RCV000657864] Chr4:6300976 [GRCh38]
Chr4:6302703 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157249]|Cataract 41 [RCV005031615]|WFS1-Related Spectrum Disorders [RCV001157250]|Wolfram syndrome 1 [RCV002509227]|not provided [RCV000118863]|not specified [RCV000825497] Chr4:6300819 [GRCh38]
Chr4:6302546 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000403034]|Monogenic diabetes [RCV000445373]|WFS1-Related Spectrum Disorders [RCV000336052]|Wolfram syndrome 1 [RCV000987413]|not provided [RCV000487646]|not specified [RCV000118865] Chr4:6302247 [GRCh38]
Chr4:6303974 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000309925]|WFS1-Related Spectrum Disorders [RCV000364662]|Wolfram syndrome 1 [RCV002463643]|not provided [RCV000870843]|not specified [RCV000118867] Chr4:6301814 [GRCh38]
Chr4:6303541 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser) single nucleotide variant Wolfram syndrome 1 [RCV003126500]|not provided [RCV000118868]|not specified [RCV000152692] Chr4:6301977 [GRCh38]
Chr4:6303704 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000393279]|WFS1-Related Spectrum Disorders [RCV000361257]|Wolfram syndrome 1 [RCV003147339]|not provided [RCV000870844]|not specified [RCV000118869] Chr4:6302264 [GRCh38]
Chr4:6303991 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.9C>T (p.Ser3=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000291481]|WFS1-Related Spectrum Disorders [RCV000383272]|Wolfram syndrome 1 [RCV002472308]|not provided [RCV000756923]|not specified [RCV000118870] Chr4:6277464 [GRCh38]
Chr4:6279191 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001154623]|Cataract 41 [RCV002483249]|WFS1-Related Spectrum Disorders [RCV001154624]|Wolfram syndrome 1 [RCV000709886]|not provided [RCV000756925]|not specified [RCV000152665] Chr4:6291218 [GRCh38]
Chr4:6292945 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_006005.3(WFS1):c.1158C>T (p.Pro386=) single nucleotide variant Wolfram syndrome 1 [RCV002509231]|not provided [RCV000871458]|not specified [RCV000126316] Chr4:6300953 [GRCh38]
Chr4:6302680 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157342]|Meniere disease [RCV004567069]|Monogenic diabetes [RCV000445544]|WFS1-Related Spectrum Disorders [RCV000351887]|Wolfram syndrome 1 [RCV000987408]|not provided [RCV000415767]|not specified [RCV000155411] Chr4:6301089 [GRCh38]
Chr4:6302816 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151986]|Cataract 41 [RCV005025204]|Inborn genetic diseases [RCV002514675]|Monogenic diabetes [RCV000664090]|Optic atrophy [RCV004815195]|Retinal dystrophy [RCV004815194]|WFS1-Related Spectrum Disorders [RCV001151987]|WFS1-related disorder [RCV004528845]|Wolfram syndrome 1 [RCV004820834]|not provided [RCV000724541]|not specified [RCV000155342] Chr4:6301392 [GRCh38]
Chr4:6303119 [GRCh37]
Chr4:4p16.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_006005.3(WFS1):c.1797C>A (p.Val599=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000368428]|Cataract 41 [RCV002505090]|WFS1-Related Spectrum Disorders [RCV000273823]|Wolfram syndrome 1 [RCV003126506]|not provided [RCV000865310]|not specified [RCV000155409] Chr4:6301592 [GRCh38]
Chr4:6303319 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000319583]|WFS1-Related Spectrum Disorders [RCV000278581]|Wolfram syndrome 1 [RCV003126507]|not provided [RCV000865311]|not specified [RCV000152682] Chr4:6301595 [GRCh38]
Chr4:6303322 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157672]|WFS1-Related Spectrum Disorders [RCV001157673]|Wolfram syndrome 1 [RCV003126508]|not provided [RCV000487609]|not specified [RCV000152687] Chr4:6301847 [GRCh38]
Chr4:6303574 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157670]|WFS1-Related Spectrum Disorders [RCV001157676]|WFS1-related disorder [RCV004528846]|not provided [RCV000487871]|not specified [RCV000155348] Chr4:6301919 [GRCh38]
Chr4:6303646 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) single nucleotide variant Cataract 41 [RCV002498615]|Diabetes mellitus [RCV002285142]|Monogenic diabetes [RCV001174426]|WFS1-Related Spectrum Disorders [RCV000263623]|not provided [RCV000756928]|not specified [RCV000152691] Chr4:6301953 [GRCh38]
Chr4:6303680 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153483]|WFS1-Related Spectrum Disorders [RCV001153482]|not provided [RCV000756926]|not specified [RCV000155349] Chr4:6302000 [GRCh38]
Chr4:6303727 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.-6+11C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001154415]|WFS1-Related Spectrum Disorders [RCV001154416]|Wolfram syndrome 1 [RCV002472309]|not specified [RCV000126334] Chr4:6270025 [GRCh38]
Chr4:6271752 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2366G>C (p.Gly789Ala) single nucleotide variant not provided [RCV001766289] Chr4:6302161 [GRCh38]
Chr4:6303888 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.862G>A (p.Val288Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004584621]|Cataract 41 [RCV002498858]|WFS1-related disorder [RCV004737263]|not provided [RCV001303065]|not specified [RCV000171514] Chr4:6300657 [GRCh38]
Chr4:6302384 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) single nucleotide variant Cataract 41 [RCV005042394]|Diabetes mellitus [RCV001175325]|Optic atrophy [RCV004816309]|Retinal dystrophy [RCV004816308]|Type 2 diabetes mellitus [RCV003227696]|WFS1-Related Spectrum Disorders [RCV000778739]|WFS1-related disorder [RCV004537507]|Wolfram syndrome 1 [RCV001706152]|Wolfram syndrome [RCV000501459]|not provided [RCV000255189]|not specified [RCV000599628] Chr4:6301467 [GRCh38]
Chr4:6303194 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_006005.3(WFS1):c.1514G>C (p.Cys505Ser) single nucleotide variant not provided [RCV001312645] Chr4:6301309 [GRCh38]
Chr4:6303036 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) single nucleotide variant Cataract 41 [RCV002498721]|Wolfram syndrome 1 [RCV003147360]|not provided [RCV000726782]|not specified [RCV000152700] Chr4:6302265 [GRCh38]
Chr4:6303992 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157248]|Cataract 41 [RCV002496615]|WFS1-Related Spectrum Disorders [RCV000259675]|Wolfram syndrome 1 [RCV002464100]|not provided [RCV001523396]|not specified [RCV000038668] Chr4:6300792 [GRCh38]
Chr4:6300792..6300793 [GRCh38]
Chr4:6302519 [GRCh37]
Chr4:6302519..6302520 [GRCh37]
Chr4:4p16.1		 benign|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 copy number loss See cases [RCV000053262] Chr4:5455628..10640216 [GRCh38]
Chr4:5457355..10641840 [GRCh37]
Chr4:5508256..10250938 [NCBI36]
Chr4:4p16.2-16.1		 pathogenic
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) single nucleotide variant Cataract 41 [RCV002485511]|Monogenic diabetes [RCV000664088]|not provided [RCV001855424] Chr4:6300774 [GRCh38]
Chr4:6302501 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) single nucleotide variant Cataract 41 [RCV002493069]|Wolfram syndrome 1 [RCV003126895]|not provided [RCV000658092] Chr4:6301512 [GRCh38]
Chr4:6303239 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) single nucleotide variant Monogenic diabetes [RCV000664096]|WFS1-related disorder [RCV004737941]|Wolfram syndrome 1 [RCV002464286]|not provided [RCV000952030]|not specified [RCV001700444] Chr4:6302358 [GRCh38]
Chr4:6304085 [GRCh37]
Chr4:4p16.1		 pathogenic|benign|likely benign
NM_006005.3(WFS1):c.2570C>A (p.Thr857Asn) single nucleotide variant Monogenic diabetes [RCV000664097] Chr4:6302365 [GRCh38]
Chr4:6304092 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000336857]|Monogenic diabetes [RCV001174423]|WFS1-Related Spectrum Disorders [RCV000281797]|Wolfram syndrome 1 [RCV002464105]|not provided [RCV000081339]|not specified [RCV000150097] Chr4:6301470 [GRCh38]
Chr4:6303197 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000301562]|Inborn genetic diseases [RCV004019566]|Monogenic diabetes [RCV001174427]|WFS1-Related Spectrum Disorders [RCV000361228]|Wolfram syndrome 1 [RCV002464007]|not provided [RCV000872722]|not specified [RCV000081340] Chr4:6302151 [GRCh38]
Chr4:6303878 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2500G>A (p.Gly834Ser) single nucleotide variant not provided [RCV000081341] Chr4:6302295 [GRCh38]
Chr4:6304022 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000342228]|Cataract 41 [RCV002498427]|Monogenic diabetes [RCV000445441]|WFS1-Related Spectrum Disorders [RCV001156285]|Wolfram syndrome 1 [RCV002464106]|not provided [RCV000421798]|not specified [RCV000081342] Chr4:6302406 [GRCh38]
Chr4:6304133 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.1764G>A (p.Trp588Ter) single nucleotide variant not provided [RCV003221497] Chr4:6301559 [GRCh38]
Chr4:6303286 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.578dup (p.Gln194fs) duplication Cataract 41 [RCV005038027]|Wolfram syndrome 1 [RCV001291716]|Wolfram-like syndrome [RCV001291715] Chr4:6291312..6291313 [GRCh38]
Chr4:6293039..6293040 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.416G>A (p.Arg139His) single nucleotide variant not provided [RCV001565038] Chr4:6289087 [GRCh38]
Chr4:6290814 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5875413-6557271)x1 copy number loss See cases [RCV000135671] Chr4:5875413..6557271 [GRCh38]
Chr4:5877140..6558998 [GRCh37]
Chr4:5928041..6609899 [NCBI36]
Chr4:4p16.2-16.1		 uncertain significance
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.2-16.1(chr4:5859050-6557271)x1 copy number loss See cases [RCV000139511] Chr4:5859050..6557271 [GRCh38]
Chr4:5860777..6558998 [GRCh37]
Chr4:5911678..6609899 [NCBI36]
Chr4:4p16.2-16.1		 uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
NM_006005.3(WFS1):c.1441C>T (p.Leu481=) single nucleotide variant Wolfram syndrome 1 [RCV003126558]|not provided [RCV002056105]|not specified [RCV000155928] Chr4:6301236 [GRCh38]
Chr4:6302963 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.654C>T (p.Pro218=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155461]|WFS1-Related Spectrum Disorders [RCV001155462]|WFS1-related disorder [RCV004544445]|Wolfram syndrome 1 [RCV002509043]|not provided [RCV002056106]|not specified [RCV000155932] Chr4:6291939 [GRCh38]
Chr4:6293666 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155255]|Cataract 41 [RCV002484944]|WFS1-Related Spectrum Disorders [RCV001155256]|Wolfram syndrome 1 [RCV002509044]|not provided [RCV001857537]|not specified [RCV000156025] Chr4:6277550 [GRCh38]
Chr4:6279277 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) duplication Rare genetic deafness [RCV000152660]|Wolfram syndrome 1 [RCV002273965] Chr4:6301235..6301236 [GRCh38]
Chr4:6302962..6302963 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.128C>T (p.Ala43Val) single nucleotide variant Wolfram syndrome 1 [RCV002509039]|not specified [RCV000152662] Chr4:6277583 [GRCh38]
Chr4:6279310 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) single nucleotide variant Cataract 41 [RCV000765774]|Inborn genetic diseases [RCV002516065]|Wolfram syndrome 1 [RCV002509249]|not provided [RCV001857525]|not specified [RCV000152666] Chr4:6295044 [GRCh38]
Chr4:6296771 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.881A>T (p.His294Leu) single nucleotide variant Wolfram syndrome 1 [RCV002509250]|not specified [RCV000152668] Chr4:6300676 [GRCh38]
Chr4:6302403 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) single nucleotide variant Inborn genetic diseases [RCV002516066]|Wolfram syndrome 1 [RCV002265628]|Wolfram syndrome 1 [RCV002509251]|not provided [RCV001309844]|not specified [RCV000152669] Chr4:6300678 [GRCh38]
Chr4:6302405 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1261A>G (p.Ile421Val) single nucleotide variant Wolfram syndrome 1 [RCV002509254]|not specified [RCV000152672] Chr4:6301056 [GRCh38]
Chr4:6302783 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153153]|WFS1-Related Spectrum Disorders [RCV001153152]|Wolfram syndrome 1 [RCV003126546]|not provided [RCV001505804]|not specified [RCV000152675] Chr4:6301187 [GRCh38]
Chr4:6302914 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) single nucleotide variant Cataract 41 [RCV000765781]|Wolfram syndrome 1 [RCV003126547]|not provided [RCV000756932]|not specified [RCV000152676] Chr4:6301191 [GRCh38]
Chr4:6302918 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) single nucleotide variant Wolfram syndrome 1 [RCV003126550]|not provided [RCV000725029]|not specified [RCV000152681] Chr4:6301538 [GRCh38]
Chr4:6303265 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) single nucleotide variant not provided [RCV001857526]|not specified [RCV000152683] Chr4:6301717 [GRCh38]
Chr4:6303444 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) single nucleotide variant Cataract 41 [RCV002478442]|Wolfram syndrome 1 [RCV003147358]|not provided [RCV001850080]|not specified [RCV000152684] Chr4:6301779 [GRCh38]
Chr4:6303506 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2080G>C (p.Glu694Gln) single nucleotide variant not specified [RCV000152689] Chr4:6301875 [GRCh38]
Chr4:6303602 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg) single nucleotide variant Wolfram syndrome 1 [RCV003128187]|not specified [RCV000152693] Chr4:6302088 [GRCh38]
Chr4:6303815 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.2323T>G (p.Phe775Val) single nucleotide variant Wolfram syndrome 1 [RCV003147359]|not specified [RCV000152694] Chr4:6302118 [GRCh38]
Chr4:6303845 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) single nucleotide variant Cataract 41 [RCV002498720]|Wolfram syndrome 1 [RCV003148660]|not provided [RCV000870805]|not specified [RCV000152696] Chr4:6302201 [GRCh38]
Chr4:6303928 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp) single nucleotide variant Wolfram syndrome 1 [RCV003148661]|not provided [RCV002056020]|not specified [RCV000152697] Chr4:6302164 [GRCh38]
Chr4:6303891 [GRCh37]
Chr4:4p16.1		 likely risk allele|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.2610C>T (p.Thr870=) single nucleotide variant Wolfram syndrome 1 [RCV003147361]|not provided [RCV000874952]|not specified [RCV000152701] Chr4:6302405 [GRCh38]
Chr4:6304132 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000335610]|WFS1-Related Spectrum Disorders [RCV000402869]|Wolfram syndrome 1 [RCV003126555]|not provided [RCV000877309]|not specified [RCV000155344] Chr4:6301469 [GRCh38]
Chr4:6303196 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1935G>T (p.Leu645=) single nucleotide variant Wolfram syndrome 1 [RCV003128188]|not provided [RCV001618313]|not specified [RCV000156297] Chr4:6301730 [GRCh38]
Chr4:6303457 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000355811]|Monogenic diabetes [RCV001174388]|WFS1-Related Spectrum Disorders [RCV000312681]|Wolfram syndrome 1 [RCV002464008]|not provided [RCV000870981]|not specified [RCV000154149] Chr4:6300712 [GRCh38]
Chr4:6302439 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2555_2560dup (p.Gln853_Leu854insProGln) duplication Inborn genetic diseases [RCV002516340]|Wolfram syndrome 1 [RCV003147365]|not provided [RCV002515028]|not specified [RCV000156576] Chr4:6302349..6302350 [GRCh38]
Chr4:6304076..6304077 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1645C>G (p.Leu549Val) single nucleotide variant not specified [RCV000156674] Chr4:6301440 [GRCh38]
Chr4:6303167 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.825G>A (p.Ala275=) single nucleotide variant Cataract 41 [RCV002484957]|WFS1-related disorder [RCV004544458]|Wolfram syndrome 1 [RCV002509258]|not provided [RCV000904623]|not specified [RCV000156803] Chr4:6295153 [GRCh38]
Chr4:6296880 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) single nucleotide variant Monogenic diabetes [RCV000445448]|not provided [RCV000756930]|not specified [RCV000155333] Chr4:6289024 [GRCh38]
Chr4:6290751 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.449C>T (p.Ala150Val) single nucleotide variant Type 2 diabetes mellitus [RCV003227677]|not provided [RCV000949462]|not specified [RCV000155334] Chr4:6289120 [GRCh38]
Chr4:6290847 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) single nucleotide variant Cataract 41 [RCV002498751]|Wolfram syndrome 1 [RCV002509257]|not provided [RCV001640192]|not specified [RCV000155335] Chr4:6295090 [GRCh38]
Chr4:6296817 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.854G>A (p.Arg285His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000279216]|Cataract 41 [RCV002484937]|WFS1-Related Spectrum Disorders [RCV000371650]|not provided [RCV000870648]|not specified [RCV000155336] Chr4:6295182 [GRCh38]
Chr4:6296909 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.997G>T (p.Val333Phe) single nucleotide variant not specified [RCV000155337] Chr4:6300792 [GRCh38]
Chr4:6302519 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153036]|WFS1-Related Spectrum Disorders [RCV001153037]|Wolfram syndrome 1 [RCV002509042]|not provided [RCV000733966]|not specified [RCV000155338] Chr4:6300947 [GRCh38]
Chr4:6302674 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153038]|Monogenic diabetes [RCV000445390]|WFS1-Related Spectrum Disorders [RCV001153039]|WFS1-related disorder [RCV004544437]|not provided [RCV000870736]|not specified [RCV000155339] Chr4:6300948 [GRCh38]
Chr4:6302675 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1321G>A (p.Val441Met) single nucleotide variant WFS1-related disorder [RCV004534991]|Wolfram syndrome 1 [RCV003126552]|not provided [RCV001517049]|not specified [RCV000155340] Chr4:6301116 [GRCh38]
Chr4:6302843 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) single nucleotide variant Cataract 41 [RCV002498752]|Wolfram syndrome 1 [RCV003126553]|not provided [RCV001503148]|not specified [RCV000155341] Chr4:6301265 [GRCh38]
Chr4:6302992 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1632C>T (p.Ser544=) single nucleotide variant WFS1-related disorder [RCV004544438]|Wolfram syndrome 1 [RCV003126554]|not provided [RCV000487945]|not specified [RCV000155343] Chr4:6301427 [GRCh38]
Chr4:6303154 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000327617]|WFS1-Related Spectrum Disorders [RCV000272593]|Wolfram syndrome 1 [RCV003126556]|not provided [RCV001704130]|not specified [RCV000155345] Chr4:6301553 [GRCh38]
Chr4:6303280 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155849]|WFS1-Related Spectrum Disorders [RCV001155848]|Wolfram syndrome 1 [RCV003126557]|not provided [RCV001510415]|not specified [RCV000155346] Chr4:6301587 [GRCh38]
Chr4:6303314 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000677339]|Cataract 41 [RCV000515318]|Retinal dystrophy [RCV004815243]|WFS1-Related Spectrum Disorders [RCV001152091]|WFS1-related disorder [RCV004534992]|not provided [RCV000767006]|not specified [RCV000155347] Chr4:6301752 [GRCh38]
Chr4:6303479 [GRCh37]
Chr4:4p16.1		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157876]|WFS1-Related Spectrum Disorders [RCV001157875]|Wolfram syndrome 1 [RCV003147364]|not provided [RCV003546482]|not specified [RCV000155351] Chr4:6302249 [GRCh38]
Chr4:6303976 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000333986]|Cataract 41 [RCV002498754]|Monogenic diabetes [RCV000445506]|WFS1-Related Spectrum Disorders [RCV000386661]|Wolfram syndrome 1 [RCV002464131]|not provided [RCV000433970]|not specified [RCV000155410] Chr4:6291313 [GRCh38]
Chr4:6293040 [GRCh37]
Chr4:4p16.1		 likely risk allele|benign|likely benign|conflicting interpretations of pathogenicity|no classifications from unflagged records
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000284874]|Cataract 41 [RCV002492587]|Monogenic diabetes [RCV000664098]|WFS1-Related Spectrum Disorders [RCV000376917]|Wolfram syndrome 1 [RCV002464132]|not provided [RCV000871130]|not specified [RCV000155412] Chr4:6302391 [GRCh38]
Chr4:6304118 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) single nucleotide variant Cataract 41 [RCV005031660]|not provided [RCV000767003]|not specified [RCV000152667] Chr4:6295127 [GRCh38]
Chr4:6296854 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.96G>A (p.Ser32=) single nucleotide variant WFS1-related disorder [RCV004532712]|Wolfram syndrome 1 [RCV002509038]|not provided [RCV000951768]|not specified [RCV000152661] Chr4:6277551 [GRCh38]
Chr4:6279278 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.225C>T (p.Asp75=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151496]|WFS1-Related Spectrum Disorders [RCV001151495]|Wolfram syndrome 1 [RCV002509040]|not provided [RCV000864281]|not specified [RCV000152663] Chr4:6277680 [GRCh38]
Chr4:6279407 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) single nucleotide variant Inborn genetic diseases [RCV002516064]|Monogenic diabetes [RCV000664085]|Wolfram syndrome 1 [RCV002509041]|not provided [RCV000727284]|not specified [RCV000152664] Chr4:6288996 [GRCh38]
Chr4:6290723 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) single nucleotide variant Cataract 41 [RCV002505159]|Wolfram syndrome 1 [RCV002509252]|not provided [RCV001308356]|not specified [RCV000152670] Chr4:6301014 [GRCh38]
Chr4:6302741 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) single nucleotide variant Inborn genetic diseases [RCV002514938]|WFS1-related disorder [RCV004737235]|Wolfram syndrome 1 [RCV002509253]|not provided [RCV001719944]|not specified [RCV000152671] Chr4:6301032 [GRCh38]
Chr4:6302759 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1294C>T (p.Leu432=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157343]|WFS1-Related Spectrum Disorders [RCV001157344]|WFS1-related disorder [RCV004532713]|not provided [RCV000838006]|not specified [RCV000152673] Chr4:6301089 [GRCh38]
Chr4:6302816 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000477805]|Cataract 41 [RCV005025231]|Inborn genetic diseases [RCV003278672]|not provided [RCV001298335]|not specified [RCV000152674] Chr4:6301092 [GRCh38]
Chr4:6302819 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1491C>T (p.Val497=) single nucleotide variant WFS1-related disorder [RCV004532714]|Wolfram syndrome 1 [RCV003126548]|not provided [RCV000945633]|not specified [RCV000152677] Chr4:6301286 [GRCh38]
Chr4:6303013 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000389673]|Cataract 41 [RCV002498719]|WFS1-Related Spectrum Disorders [RCV000295433]|Wolfram syndrome 1 [RCV003126549]|not provided [RCV000756924]|not specified [RCV000152678] Chr4:6301325 [GRCh38]
Chr4:6303052 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) single nucleotide variant Cataract 41 [RCV002483323]|not provided [RCV000767005]|not specified [RCV000152679] Chr4:6301351 [GRCh38]
Chr4:6303078 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000403088]|WFS1-Related Spectrum Disorders [RCV000301768]|Wolfram syndrome 1 [RCV002463650]|not provided [RCV000872436]|not specified [RCV000152680] Chr4:6301478 [GRCh38]
Chr4:6303205 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2013G>A (p.Ala671=) single nucleotide variant WFS1-related disorder [RCV004544388]|Wolfram syndrome 1 [RCV003126551]|not provided [RCV000946249]|not specified [RCV000152685] Chr4:6301808 [GRCh38]
Chr4:6303535 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2103C>T (p.Thr701=) single nucleotide variant Wolfram syndrome 1 [RCV003128186]|not provided [RCV001707537]|not specified [RCV000152690] Chr4:6301898 [GRCh38]
Chr4:6303625 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157779]|Monogenic diabetes [RCV000664094]|Nonsyndromic genetic hearing loss [RCV001544546]|WFS1-Related Spectrum Disorders [RCV000351538]|WFS1-related disorder [RCV004532715]|not provided [RCV000658991]|not specified [RCV000152695] Chr4:6302122 [GRCh38]
Chr4:6303849 [GRCh37]
Chr4:4p16.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) single nucleotide variant Cataract 41 [RCV005042295]|Inborn genetic diseases [RCV002514939]|Monogenic diabetes [RCV000445494]|Wolfram syndrome 1 [RCV003335136]|not provided [RCV001574430]|not specified [RCV000152698] Chr4:6302180 [GRCh38]
Chr4:6303907 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) single nucleotide variant Cataract 41 [RCV002492568]|Wolfram syndrome 1 [RCV003148662]|not provided [RCV002516067]|not specified [RCV000152699] Chr4:6302209 [GRCh38]
Chr4:6303936 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001156288]|WFS1-Related Spectrum Disorders [RCV001157955]|Wolfram syndrome 1 [RCV003128231]|not provided [RCV000864405]|not specified [RCV000152702] Chr4:6302462 [GRCh38]
Chr4:6304189 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) single nucleotide variant Cataract 41 [RCV002492751]|Monogenic diabetes [RCV000445453]|not provided [RCV000175817] Chr4:6277475 [GRCh38]
Chr4:6279202 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn) single nucleotide variant Cataract 41 [RCV005042416]|not provided [RCV001504622]|not specified [RCV000192394] Chr4:6301980 [GRCh38]
Chr4:6303707 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) single nucleotide variant Wolfram syndrome [RCV000192573] Chr4:6300668 [GRCh38]
Chr4:6302395 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.*241T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000320318]|WFS1-Related Spectrum Disorders [RCV000262863]|Wolfram syndrome 1 [RCV003126696]|not provided [RCV001692004] Chr4:6302709 [GRCh38]
Chr4:6304436 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) single nucleotide variant Wolfram syndrome [RCV000193050] Chr4:6302164 [GRCh38]
Chr4:6303891 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.712+16G>A single nucleotide variant Wolfram syndrome 1 [RCV000987405]|not provided [RCV000487791]|not specified [RCV000196951] Chr4:6292013 [GRCh38]
Chr4:6293740 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) single nucleotide variant not provided [RCV000729975]|not specified [RCV000196981] Chr4:6302193 [GRCh38]
Chr4:6303920 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157674]|Cataract 41 [RCV005031735]|WFS1-Related Spectrum Disorders [RCV001157675]|Wolfram syndrome 1 [RCV003128189]|not provided [RCV001853208] Chr4:6301914 [GRCh38]
Chr4:6303641 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1192G>C (p.Gly398Arg) single nucleotide variant not provided [RCV000200779] Chr4:6300987 [GRCh38]
Chr4:6302714 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) single nucleotide variant Cataract 41 [RCV005032159]|Inborn genetic diseases [RCV003015247]|Optic atrophy [RCV004816958]|Wolfram syndrome 1 [RCV002509128]|not provided [RCV002102698] Chr4:6300771 [GRCh38]
Chr4:6302498 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) single nucleotide variant Type 2 diabetes mellitus [RCV002467661]|WFS1-related disorder [RCV004541270]|not provided [RCV000197209] Chr4:6301990 [GRCh38]
Chr4:6303717 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151498]|Inborn genetic diseases [RCV002517278]|Monogenic diabetes [RCV000445379]|WFS1-Related Spectrum Disorders [RCV001151497]|WFS1-related disorder [RCV004541269]|Wolfram syndrome 1 [RCV002509049]|not provided [RCV000945649]|not specified [RCV000197713] Chr4:6277682 [GRCh38]
Chr4:6279409 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly) single nucleotide variant Inborn genetic diseases [RCV004020437]|Wolfram syndrome 1 [RCV002509048]|not provided [RCV002057034] Chr4:6277547 [GRCh38]
Chr4:6279274 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000490282]|WFS1-Related Spectrum Disorders [RCV000345927]|Wolfram syndrome 1 [RCV000987407]|not provided [RCV000953870]|not specified [RCV000825691] Chr4:6301030 [GRCh38]
Chr4:6302757 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1106A>C (p.Lys369Thr) single nucleotide variant Wolfram syndrome 1 [RCV002509050]|not provided [RCV000198191] Chr4:6300901 [GRCh38]
Chr4:6302628 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) single nucleotide variant Cataract 41 [RCV005042420]|Hearing impairment [RCV001375052]|Wolfram-like syndrome [RCV002288800]|not provided [RCV000513230] Chr4:6301849 [GRCh38]
Chr4:6303576 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1684G>C (p.Gly562Arg) single nucleotide variant Wolfram syndrome 1 [RCV003126589]|not provided [RCV000198315] Chr4:6301479 [GRCh38]
Chr4:6303206 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely risk allele
NM_006005.3(WFS1):c.2666C>T (p.Ala889Val) single nucleotide variant not provided [RCV002918384] Chr4:6302461 [GRCh38]
Chr4:6304188 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn) single nucleotide variant Wolfram syndrome 1 [RCV002509047]|not provided [RCV002517273]|not specified [RCV000195462] Chr4:6300930 [GRCh38]
Chr4:6302657 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely benign|uncertain significance
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) single nucleotide variant Cataract 41 [RCV005031741]|Wolfram-like syndrome [RCV001730586]|not provided [RCV000195490] Chr4:6302049 [GRCh38]
Chr4:6303776 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) single nucleotide variant Cataract 41 [RCV002500615]|WFS1-related disorder [RCV004530179]|Wolfram syndrome 1 [RCV002509294]|not provided [RCV000727080] Chr4:6300990 [GRCh38]
Chr4:6302717 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely risk allele|uncertain significance
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) single nucleotide variant Cataract 41 [RCV001536034]|Inborn genetic diseases [RCV002515205]|Meniere disease [RCV004567372]|Type 2 diabetes mellitus [RCV001199167]|WFS1-related disorder [RCV004528924]|Wolfram syndrome 1 [RCV000169684]|Wolfram syndrome 1 [RCV000509458]|Wolfram syndrome 1 [RCV002467643]|not provided [RCV000514926] Chr4:6277579 [GRCh38]
Chr4:6279306 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000386848]|WFS1-Related Spectrum Disorders [RCV000327535]|WFS1-related disorder [RCV004530151]|Wolfram syndrome 1 [RCV003128234]|not provided [RCV000727290]|not specified [RCV000194535] Chr4:6302219 [GRCh38]
Chr4:6303946 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.683G>A (p.Arg228His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155464]|Cataract 41 [RCV000515386]|Retinal dystrophy [RCV004816299]|WFS1-Related Spectrum Disorders [RCV001155463]|WFS1-related disorder [RCV004537488]|Wolfram-like syndrome [RCV000023512]|not provided [RCV000724125]|not specified [RCV000200201] Chr4:6291968 [GRCh38]
Chr4:6293695 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) single nucleotide variant Cataract 41 [RCV000765785]|Childhood onset hearing loss [RCV001328016]|Retinal dystrophy [RCV004816307]|WFS1-related disorder [RCV004737286]|Wolfram syndrome 1 [RCV003126571]|not provided [RCV000180289]|not specified [RCV004526628] Chr4:6301824 [GRCh38]
Chr4:6303551 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) single nucleotide variant Wolfram syndrome 1 [RCV003148665]|not provided [RCV000724671] Chr4:6302175 [GRCh38]
Chr4:6303902 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2181C>T (p.Ile727=) single nucleotide variant Wolfram syndrome 1 [RCV003126572]|not provided [RCV000180292] Chr4:6301976 [GRCh38]
Chr4:6303703 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.*131C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000260124]|WFS1-Related Spectrum Disorders [RCV000371195]|Wolfram syndrome 1 [RCV003126695]|not provided [RCV001548595] Chr4:6302599 [GRCh38]
Chr4:6304326 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.-106A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000319102]|WFS1-Related Spectrum Disorders [RCV000261786]|Wolfram syndrome 1 [RCV002465630] Chr4:6269914 [GRCh38]
Chr4:6271641 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.*357CTTT[2] microsatellite Nonsyndromic Hearing Loss, Dominant [RCV000265586]|WFS1-Related Spectrum Disorders [RCV000358044]|Wolfram syndrome 1 [RCV003126703] Chr4:6302824..6302827 [GRCh38]
Chr4:6304551..6304554 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del) microsatellite Wolfram syndrome [RCV000193337]|not provided [RCV001853123] Chr4:6301030..6301032 [GRCh38]
Chr4:6302757..6302759 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) microsatellite Cataract 41 [RCV002503760]|WFS1-related disorder [RCV004737305]|Wolfram syndrome 1 [RCV001824671]|Wolfram syndrome [RCV000194382]|not provided [RCV001762414] Chr4:6301484..6301489 [GRCh38]
Chr4:6303211..6303216 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) single nucleotide variant Wolfram syndrome 1 [RCV000191145]|not provided [RCV001852540] Chr4:6302058 [GRCh38]
Chr4:6303785 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely risk allele
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) deletion Cataract 41 [RCV001536011]|Wolfram syndrome 1 [RCV000191146]|not provided [RCV000200365] Chr4:6302441..6302444 [GRCh38]
Chr4:6304168..6304171 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1142T>C (p.Leu381Pro) single nucleotide variant Wolfram syndrome 1 [RCV002509045]|not specified [RCV000193916] Chr4:6300937 [GRCh38]
Chr4:6302664 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2390_2391insACG (p.Asp797delinsGluArg) insertion Wolfram syndrome 1 [RCV003148676]|not specified [RCV000201518] Chr4:6302185..6302186 [GRCh38]
Chr4:6303912..6303913 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1930G>T (p.Val644Leu) single nucleotide variant not specified [RCV000200274] Chr4:6301725 [GRCh38]
Chr4:6303452 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) single nucleotide variant Cataract 41 [RCV000765776]|not provided [RCV000767004]|not specified [RCV000200344] Chr4:6295145 [GRCh38]
Chr4:6296872 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) single nucleotide variant Cataract 41 [RCV002500616]|Monogenic diabetes [RCV000445445]|Type 2 diabetes mellitus [RCV001542532]|not provided [RCV001857736] Chr4:6301989 [GRCh38]
Chr4:6303716 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn) single nucleotide variant Cataract 41 [RCV005031739]|Inborn genetic diseases [RCV004020438]|WFS1-related disorder [RCV004737310]|not provided [RCV000196477] Chr4:6291367 [GRCh38]
Chr4:6293094 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) single nucleotide variant Inborn genetic diseases [RCV004020436]|WFS1-related disorder [RCV004541267]|Wolfram syndrome 1 [RCV003126582]|not provided [RCV001705134]|not specified [RCV000196541] Chr4:6301574 [GRCh38]
Chr4:6303301 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) indel Cataract 41 [RCV002492910]|Optic atrophy [RCV004816337]|Wolfram syndrome 1 [RCV003126590]|not provided [RCV000196564] Chr4:6301626..6301627 [GRCh38]
Chr4:6303353..6303354 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) single nucleotide variant Cataract 41 [RCV005031738]|WFS1-related disorder [RCV004530178]|Wolfram syndrome 1 [RCV004786525]|not provided [RCV000196664] Chr4:6291241 [GRCh38]
Chr4:6292968 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) single nucleotide variant Inborn genetic diseases [RCV002517276]|Monogenic diabetes [RCV000664093]|WFS1-related disorder [RCV004541268]|Wolfram syndrome 1 [RCV003126587]|not provided [RCV001705135]|not specified [RCV000200554] Chr4:6302028 [GRCh38]
Chr4:6303755 [GRCh37]
Chr4:4p16.1		 likely pathogenic|benign|likely benign
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys) single nucleotide variant Wolfram-like syndrome [RCV000656404]|not provided [RCV000200584] Chr4:6302220 [GRCh38]
Chr4:6303947 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser) single nucleotide variant Inborn genetic diseases [RCV002515446]|Wolfram syndrome 1 [RCV003126581]|not provided [RCV000196751] Chr4:6301452 [GRCh38]
Chr4:6303179 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2164A>G (p.Met722Val) single nucleotide variant Wolfram syndrome 1 [RCV003126586]|not provided [RCV001853209] Chr4:6301959 [GRCh38]
Chr4:6303686 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157458]|Cataract 41 [RCV000765782]|WFS1-Related Spectrum Disorders [RCV001157457]|not provided [RCV000196844] Chr4:6301333 [GRCh38]
Chr4:6303060 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000339404]|WFS1-Related Spectrum Disorders [RCV000300930]|Wolfram syndrome 1 [RCV003147402]|not provided [RCV000197313] Chr4:6302248 [GRCh38]
Chr4:6303975 [GRCh37]
Chr4:4p16.1		 likely risk allele|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.510C>G (p.Thr170=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000364218]|WFS1-Related Spectrum Disorders [RCV000276573]|Wolfram syndrome 1 [RCV002509046]|not provided [RCV000872702]|not specified [RCV000197385] Chr4:6291246 [GRCh38]
Chr4:6292973 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) single nucleotide variant Cataract 41 [RCV004796093]|Diabetes mellitus [RCV001175319]|Hearing impairment [RCV001375186]|Inborn genetic diseases [RCV002517281]|Optic atrophy [RCV004816336]|Retinal dystrophy [RCV004816335]|WFS1-Related Spectrum Disorders [RCV000625904]|WFS1-related disorder [RCV004530182]|Wolfram syndrome 1 [RCV001789765]|Wolfram-like syndrome [RCV003884394]|not provided [RCV000197395]|not specified [RCV000825499] Chr4:6301815 [GRCh38]
Chr4:6303542 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155752]|Cataract 41 [RCV005031734]|WFS1-Related Spectrum Disorders [RCV001155751]|Wolfram syndrome 1 [RCV003126580]|not provided [RCV001722099] Chr4:6301302 [GRCh38]
Chr4:6303029 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2582T>G (p.Val861Gly) single nucleotide variant not provided [RCV000197483] Chr4:6302377 [GRCh38]
Chr4:6304104 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1676C>G (p.Ala559Gly) single nucleotide variant not specified [RCV000197598] Chr4:6301471 [GRCh38]
Chr4:6303198 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) duplication Cataract 41 [RCV005031742]|WFS1-Related Spectrum Disorders [RCV000778737]|WFS1-related disorder [RCV004528984]|not provided [RCV000197607] Chr4:6300702..6300703 [GRCh38]
Chr4:6302429..6302430 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000357260]|WFS1-Related Spectrum Disorders [RCV000262536]|not provided [RCV001510485]|not specified [RCV000197658] Chr4:6301104 [GRCh38]
Chr4:6302831 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157669]|WFS1-Related Spectrum Disorders [RCV001157671]|Wolfram syndrome 1 [RCV003126585]|not provided [RCV000871453]|not specified [RCV000198535] Chr4:6301835 [GRCh38]
Chr4:6303562 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157024]|Cataract 41 [RCV002485312]|Monogenic diabetes [RCV001174386]|WFS1-Related Spectrum Disorders [RCV001157025]|not provided [RCV000585599]|not specified [RCV000826085] Chr4:6289071 [GRCh38]
Chr4:6290798 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+5G>A single nucleotide variant Cataract 41 [RCV002492909]|Wolfram syndrome 1 [RCV002509051]|not provided [RCV000198681] Chr4:6291372 [GRCh38]
Chr4:6293099 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1801G>A (p.Val601Met) single nucleotide variant Wolfram syndrome 1 [RCV003126583]|not provided [RCV000728671]|not specified [RCV000198752] Chr4:6301596 [GRCh38]
Chr4:6303323 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2359_2360delinsAA (p.Ala787Asn) indel not provided [RCV003876927] Chr4:6302154..6302155 [GRCh38]
Chr4:6303881..6303882 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001152301]|Cataract 41 [RCV005031736]|Inborn genetic diseases [RCV002517277]|WFS1-Related Spectrum Disorders [RCV001152302]|WFS1-related disorder [RCV004530177]|Wolfram syndrome 1 [RCV003147401]|not provided [RCV001722100]|not specified [RCV000198824] Chr4:6302142 [GRCh38]
Chr4:6303869 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) single nucleotide variant Cataract 41 [RCV002492911]|WFS1-related disorder [RCV004528985]|Wolfram-like syndrome [RCV002288801]|not provided [RCV000198858] Chr4:6302458 [GRCh38]
Chr4:6304185 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001329514]|Cataract 41 [RCV000765779]|not provided [RCV000199078] Chr4:6300962 [GRCh38]
Chr4:6302689 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153150]|Cataract 41 [RCV000765780]|Hearing impairment [RCV001375054]|Inborn genetic diseases [RCV004020439]|Monogenic diabetes [RCV001174421]|Spastic ataxia [RCV001640297]|WFS1-Related Spectrum Disorders [RCV001153151]|WFS1-related disorder [RCV004530181]|not provided [RCV000488089]|not specified [RCV000603890] Chr4:6301166 [GRCh38]
Chr4:6302893 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) single nucleotide variant Cataract 41 [RCV002478695]|Wolfram syndrome 1 [RCV003126588]|not provided [RCV001705136] Chr4:6277511 [GRCh38]
Chr4:6279238 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) single nucleotide variant Wolfram syndrome 1 [RCV002509293]|not provided [RCV001853207]|not specified [RCV000199397] Chr4:6300810 [GRCh38]
Chr4:6302537 [GRCh37]
Chr4:4p16.1		 pathogenic|likely risk allele|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2222C>T (p.Ala741Val) single nucleotide variant Cataract 41 [RCV005032305]|not provided [RCV002576485] Chr4:6302017 [GRCh38]
Chr4:6303744 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2651T>A (p.Phe884Tyr) single nucleotide variant Wolfram syndrome 1 [RCV003128235]|not provided [RCV000195766] Chr4:6302446 [GRCh38]
Chr4:6304173 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) deletion Cataract 41 [RCV005042421]|Wolfram syndrome 1 [RCV001668365]|not provided [RCV000199613] Chr4:6302437..6302438 [GRCh38]
Chr4:6304164..6304165 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2492G>C (p.Gly831Ala) single nucleotide variant not provided [RCV003555147] Chr4:6302287 [GRCh38]
Chr4:6304014 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157140]|Cataract 41 [RCV000765775]|Inborn genetic diseases [RCV002517279]|Monogenic diabetes [RCV001174387]|WFS1-Related Spectrum Disorders [RCV001157139]|not provided [RCV000732080]|not specified [RCV000825496] Chr4:6295056 [GRCh38]
Chr4:6296783 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) single nucleotide variant Cataract 41 [RCV005025322]|Hearing impairment [RCV001375053]|WFS1-related disorder [RCV004530180]|not provided [RCV000199551] Chr4:6301111 [GRCh38]
Chr4:6302838 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) single nucleotide variant Cataract 41 [RCV002485310]|Inborn genetic diseases [RCV002515447]|Meniere disease [RCV004567405]|not provided [RCV001857735]|not specified [RCV000601338] Chr4:6300918 [GRCh38]
Chr4:6302645 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155846]|Inborn genetic diseases [RCV002517275]|Monogenic diabetes [RCV000445430]|Optic atrophy [RCV004816334]|WFS1-Related Spectrum Disorders [RCV001155847]|WFS1-related disorder [RCV004737309]|Wolfram syndrome 1 [RCV003227712]|not provided [RCV000726428]|not specified [RCV000199802] Chr4:6301555 [GRCh38]
Chr4:6303282 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) deletion Cataract 41 [RCV002478696]|Rare genetic deafness [RCV000611263]|WFS1-Related Spectrum Disorders [RCV001849340]|WFS1-related disorder [RCV004541271]|Wolfram syndrome 1 [RCV001843422]|not provided [RCV000199829] Chr4:6301036..6301038 [GRCh38]
Chr4:6302763..6302765 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153353]|Cataract 41 [RCV002485309]|Spastic ataxia [RCV001640296]|WFS1-Related Spectrum Disorders [RCV001153354]|Wolfram syndrome 1 [RCV003126584]|not provided [RCV000656991]|not specified [RCV000196354] Chr4:6301764 [GRCh38]
Chr4:6303491 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) single nucleotide variant Inborn genetic diseases [RCV002517274]|Monogenic diabetes [RCV000445413]|WFS1-Related Spectrum Disorders [RCV001157459]|not provided [RCV000945650]|not specified [RCV000200008] Chr4:6301349 [GRCh38]
Chr4:6303076 [GRCh37]
Chr4:4p16.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) single nucleotide variant Cataract 41 [RCV005031740]|Inborn genetic diseases [RCV002517280]|Monogenic diabetes [RCV001174422]|not provided [RCV000200051] Chr4:6301405 [GRCh38]
Chr4:6303132 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter) single nucleotide variant Wolfram syndrome 1 [RCV003147503]|not provided [RCV000518978] Chr4:6302395 [GRCh38]
Chr4:6304122 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) single nucleotide variant Rare genetic deafness [RCV000219504]|Wolfram-like syndrome [RCV000023513] Chr4:6302303 [GRCh38]
Chr4:6304030 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001156085]|WFS1-Related Spectrum Disorders [RCV001156086]|WFS1-related disorder [RCV004532750]|Wolfram syndrome 1 [RCV003128239]|not provided [RCV000993558]|not specified [RCV000220143] Chr4:6302045 [GRCh38]
Chr4:6303772 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) single nucleotide variant Cataract 41 [RCV002485411]|Inborn genetic diseases [RCV004020642]|Wolfram syndrome 1 [RCV002509310]|not provided [RCV001325067]|not specified [RCV000220517] Chr4:6300786 [GRCh38]
Chr4:6302513 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2638G>C (p.Asp880His) single nucleotide variant Cataract 41 [RCV005044441]|Inborn genetic diseases [RCV003362731]|not provided [RCV003736651] Chr4:6302433 [GRCh38]
Chr4:6304160 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) single nucleotide variant not provided [RCV001393083]|not specified [RCV000218719] Chr4:6302164 [GRCh38]
Chr4:6303891 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:3776784-7361544)x1 copy number loss See cases [RCV000239959] Chr4:3776784..7361544 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss [RCV004794421]|Optic atrophy [RCV004817822]|Rare genetic deafness [RCV000616575]|WFS1-related disorder [RCV004533263]|Wolfram syndrome 1 [RCV003148806]|not provided [RCV001092549] Chr4:6302184 [GRCh38]
Chr4:6303911 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain risk allele
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.132C>T (p.Pro44=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000267799]|WFS1-Related Spectrum Disorders [RCV000320494]|Wolfram syndrome 1 [RCV002509060]|not provided [RCV003546544] Chr4:6277587 [GRCh38]
Chr4:6279314 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000279459]|Cataract 41 [RCV002488769]|Inborn genetic diseases [RCV004965439]|WFS1-Related Spectrum Disorders [RCV000319996]|not provided [RCV000998219] Chr4:6302390 [GRCh38]
Chr4:6304117 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.168C>T (p.Asp56=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000271264]|WFS1-Related Spectrum Disorders [RCV000358930]|Wolfram syndrome 1 [RCV002509061]|not provided [RCV000871785] Chr4:6277623 [GRCh38]
Chr4:6279350 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.-130C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000277097]|WFS1-Related Spectrum Disorders [RCV000369984]|Wolfram syndrome 1 [RCV002465628]|not provided [RCV002263626] Chr4:6269890 [GRCh38]
Chr4:6271617 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.*366_*369del deletion Nonsyndromic Hearing Loss, Dominant [RCV000268947]|WFS1-Related Spectrum Disorders [RCV000326374]|Wolfram syndrome 1 [RCV003126705] Chr4:6302834..6302837 [GRCh38]
Chr4:6304561..6304564 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.115G>A (p.Glu39Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000298399]|WFS1-Related Spectrum Disorders [RCV000360155]|Wolfram syndrome 1 [RCV002509059]|not provided [RCV003137967] Chr4:6277570 [GRCh38]
Chr4:6279297 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.*91C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000397008]|WFS1-Related Spectrum Disorders [RCV000314379]|not provided [RCV001712333] Chr4:6302559 [GRCh38]
Chr4:6304286 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.*333C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000315129]|WFS1-Related Spectrum Disorders [RCV000334933]|Wolfram syndrome 1 [RCV003126701] Chr4:6302801 [GRCh38]
Chr4:6304528 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2580C>T (p.His860=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000371575]|WFS1-Related Spectrum Disorders [RCV000333338]|not provided [RCV000879402]|not specified [RCV000611244] Chr4:6302375 [GRCh38]
Chr4:6304102 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.*700C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000373505]|WFS1-Related Spectrum Disorders [RCV000316482]|Wolfram syndrome 1 [RCV003126715] Chr4:6303168 [GRCh38]
Chr4:6304895 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.*567C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000403353]|WFS1-Related Spectrum Disorders [RCV000336866]|Wolfram syndrome 1 [RCV003126710]|not provided [RCV004716262] Chr4:6303035 [GRCh38]
Chr4:6304762 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.*604G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000341007]|WFS1-Related Spectrum Disorders [RCV000302430]|not provided [RCV004716263] Chr4:6303072 [GRCh38]
Chr4:6304799 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.*149G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000317741]|WFS1-Related Spectrum Disorders [RCV000356153]|not provided [RCV001712140] Chr4:6302617 [GRCh38]
Chr4:6304344 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000394859]|Cataract 41 [RCV005033884]|WFS1-Related Spectrum Disorders [RCV000357100]|Wolfram syndrome 1 [RCV002509058] Chr4:6277525 [GRCh38]
Chr4:6279252 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.*47T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000393152]|WFS1-Related Spectrum Disorders [RCV000288103]|not provided [RCV001643058]|not specified [RCV000727866] Chr4:6302515 [GRCh38]
Chr4:6304242 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.*54A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000406595]|WFS1-Related Spectrum Disorders [RCV000345360]|Wolfram syndrome 1 [RCV003128242]|not provided [RCV001643059] Chr4:6302522 [GRCh38]
Chr4:6304249 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.*520G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000294472]|WFS1-Related Spectrum Disorders [RCV000351770]|Wolfram syndrome 1 [RCV003126708] Chr4:6302988 [GRCh38]
Chr4:6304715 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.-141A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000309275]|WFS1-Related Spectrum Disorders [RCV000347836]|Wolfram syndrome 1 [RCV002465626]|not provided [RCV003437109] Chr4:6269879 [GRCh38]
Chr4:6271606 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.*512C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000386534]|WFS1-Related Spectrum Disorders [RCV000329697]|Wolfram syndrome 1 [RCV003126707]|not provided [RCV004716261] Chr4:6302980 [GRCh38]
Chr4:6304707 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.*724_*727del deletion Nonsyndromic Hearing Loss, Dominant [RCV000338798]|WFS1-Related Spectrum Disorders [RCV000281452]|Wolfram syndrome 1 [RCV003126716] Chr4:6303189..6303192 [GRCh38]
Chr4:6304916..6304919 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) single nucleotide variant Cataract 41 [RCV002494843]|Inborn genetic diseases [RCV004021170]|Monogenic diabetes [RCV000445375]|Retinal dystrophy [RCV004816498]|WFS1-related disorder [RCV004535338]|not provided [RCV000585352] Chr4:6301917 [GRCh38]
Chr4:6303644 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.*506C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000383357]|WFS1-Related Spectrum Disorders [RCV000272626]|Wolfram syndrome 1 [RCV003126706] Chr4:6302974 [GRCh38]
Chr4:6304701 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.2340C>A (p.Gly780=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000265146]|WFS1-Related Spectrum Disorders [RCV000355409]|Wolfram syndrome 1 [RCV003147448] Chr4:6302135 [GRCh38]
Chr4:6303862 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) single nucleotide variant not provided [RCV000374776] Chr4:6300732 [GRCh38]
Chr4:6302459 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) single nucleotide variant Type 2 diabetes mellitus [RCV003227736]|not provided [RCV000724935] Chr4:6302422 [GRCh38]
Chr4:6304149 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.*526A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000371638]|WFS1-Related Spectrum Disorders [RCV000279361]|Wolfram syndrome 1 [RCV003126709] Chr4:6302994 [GRCh38]
Chr4:6304721 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.938A>C (p.His313Pro) single nucleotide variant WFS1-related disorder [RCV004738568]|not provided [RCV002285980] Chr4:6300733 [GRCh38]
Chr4:6302460 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2580C>G (p.His860Gln) single nucleotide variant not provided [RCV000487937] Chr4:6302375 [GRCh38]
Chr4:6304102 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*605T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000305800]|WFS1-Related Spectrum Disorders [RCV000403148]|Wolfram syndrome 1 [RCV003126711] Chr4:6303073 [GRCh38]
Chr4:6304800 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.2481C>T (p.Thr827=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000307840]|WFS1-Related Spectrum Disorders [RCV000364583]|Wolfram syndrome 1 [RCV003147450]|not provided [RCV002057941] Chr4:6302276 [GRCh38]
Chr4:6304003 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.*654G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000366224]|WFS1-Related Spectrum Disorders [RCV000309170]|Wolfram syndrome 1 [RCV003126713] Chr4:6303122 [GRCh38]
Chr4:6304849 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.-100C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000322692]|WFS1-Related Spectrum Disorders [RCV000379949] Chr4:6269920 [GRCh38]
Chr4:6271647 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1089G>A (p.Lys363=) single nucleotide variant Wolfram syndrome 1 [RCV002509468]|not specified [RCV000599664] Chr4:6300884 [GRCh38]
Chr4:6302611 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.-129A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000311162]|WFS1-Related Spectrum Disorders [RCV000368062]|Wolfram syndrome 1 [RCV002465629] Chr4:6269891 [GRCh38]
Chr4:6271618 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.634G>A (p.Gly212Arg) single nucleotide variant WFS1-related disorder [RCV004530695]|Wolfram syndrome 1 [RCV002509079]|not provided [RCV000593925] Chr4:6291919 [GRCh38]
Chr4:6293646 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1461C>T (p.Thr487=) single nucleotide variant Wolfram syndrome 1 [RCV003126864]|not specified [RCV000601147] Chr4:6301256 [GRCh38]
Chr4:6302983 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter) single nucleotide variant Type 2 diabetes mellitus [RCV000626276]|Wolfram syndrome 1 [RCV002509088] Chr4:6289001 [GRCh38]
Chr4:6290728 [GRCh37]
Chr4:4p16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.231C>T (p.Thr77=) single nucleotide variant Wolfram syndrome 1 [RCV002509068]|not provided [RCV001721437] Chr4:6277686 [GRCh38]
Chr4:6279413 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1896G>T (p.Met632Ile) single nucleotide variant Monogenic diabetes [RCV000445427]|Wolfram syndrome 1 [RCV003128192]|not provided [RCV001851112] Chr4:6301691 [GRCh38]
Chr4:6303418 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157339]|Cataract 41 [RCV005033962]|Monogenic diabetes [RCV000445460]|WFS1-Related Spectrum Disorders [RCV001157340]|WFS1-related disorder [RCV004737491]|Wolfram syndrome 1 [RCV002509384]|not provided [RCV000993556]|not specified [RCV000825498] Chr4:6301060 [GRCh38]
Chr4:6302787 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) single nucleotide variant Cataract 41 [RCV005033961]|Monogenic diabetes [RCV000445466]|Wolfram syndrome 1 [RCV002509072]|not provided [RCV000766821]|not specified [RCV000518948] Chr4:6291932 [GRCh38]
Chr4:6293659 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.129A>T (p.Ala43=) single nucleotide variant Wolfram syndrome 1 [RCV002509066]|not provided [RCV001704317] Chr4:6277584 [GRCh38]
Chr4:6279311 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.342C>T (p.Ala114=) single nucleotide variant Cataract 41 [RCV002502588]|WFS1-related disorder [RCV004539910]|Wolfram syndrome 1 [RCV002509069]|not provided [RCV000872226]|not specified [RCV000430540] Chr4:6289013 [GRCh38]
Chr4:6290740 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.2310C>T (p.Phe770=) single nucleotide variant Wolfram syndrome 1 [RCV003128243]|not provided [RCV000973844]|not specified [RCV000434111] Chr4:6302105 [GRCh38]
Chr4:6303832 [GRCh37]
Chr4:4p16.1		 likely benign
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_006005.3(WFS1):c.966C>T (p.His322=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155564]|WFS1-Related Spectrum Disorders [RCV001155563]|WFS1-related disorder [RCV004535626]|Wolfram syndrome 1 [RCV002509076]|not provided [RCV000951748]|not specified [RCV000499529] Chr4:6300761 [GRCh38]
Chr4:6302488 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2540G>A (p.Cys847Tyr) single nucleotide variant Autistic behavior [RCV000500223]|Wolfram syndrome 1 [RCV003147488]|not provided [RCV000519327] Chr4:6302335 [GRCh38]
Chr4:6304062 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter) single nucleotide variant Wolfram syndrome 1 [RCV003126758]|not provided [RCV000498226] Chr4:6301984 [GRCh38]
Chr4:6303711 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1607T>A (p.Val536Glu) single nucleotide variant Wolfram syndrome 1 [RCV003126759]|not provided [RCV000498432] Chr4:6301402 [GRCh38]
Chr4:6303129 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) single nucleotide variant Cataract 41 [RCV000765783]|not provided [RCV000732082]|not specified [RCV000196092] Chr4:6301428 [GRCh38]
Chr4:6303155 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser) single nucleotide variant Cataract 41 [RCV005031737]|not provided [RCV001853210]|not specified [RCV000196208] Chr4:6277624 [GRCh38]
Chr4:6279351 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) single nucleotide variant Autistic behavior [RCV000502304]|Autosomal dominant nonsyndromic hearing loss 6 [RCV001156283]|Cataract 41 [RCV002485311]|Inborn genetic diseases [RCV002517282]|WFS1-Related Spectrum Disorders [RCV001156284]|Wolfram syndrome 1 [RCV004786526]|not provided [RCV000199675]|not specified [RCV004782306] Chr4:6302398 [GRCh38]
Chr4:6304125 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1772C>G (p.Ser591Cys) single nucleotide variant not specified [RCV000200170] Chr4:6301567 [GRCh38]
Chr4:6303294 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) single nucleotide variant Cataract 41 [RCV002490902]|not provided [RCV000518926] Chr4:6301944 [GRCh38]
Chr4:6303671 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.1395C>T (p.Ala465=) single nucleotide variant Wolfram syndrome 1 [RCV002463663]|not provided [RCV000878576]|not specified [RCV000219568] Chr4:6301190 [GRCh38]
Chr4:6302917 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.631+12C>T single nucleotide variant Wolfram syndrome 1 [RCV002509052]|not provided [RCV001522280]|not specified [RCV000223620] Chr4:6291379 [GRCh38]
Chr4:6293106 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000385208]|WFS1-Related Spectrum Disorders [RCV000344712]|Wolfram syndrome 1 [RCV003128236]|not provided [RCV001092548]|not specified [RCV000215408] Chr4:6302080 [GRCh38]
Chr4:6303807 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1552A>G (p.Met518Val) single nucleotide variant not provided [RCV001582739]|not specified [RCV000222121] Chr4:6301347 [GRCh38]
Chr4:6303074 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.375C>T (p.Thr125=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155341]|WFS1-Related Spectrum Disorders [RCV001155342]|Wolfram syndrome 1 [RCV002509053]|not provided [RCV002057162]|not specified [RCV000213245] Chr4:6289046 [GRCh38]
Chr4:6290773 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1479C>T (p.Val493=) single nucleotide variant Wolfram syndrome 1 [RCV003126608]|not provided [RCV001722165]|not specified [RCV000219863] Chr4:6301274 [GRCh38]
Chr4:6303001 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile) single nucleotide variant Wolfram syndrome 1 [RCV003126610]|not specified [RCV000217826] Chr4:6301177 [GRCh38]
Chr4:6302904 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1020C>G (p.Phe340Leu) single nucleotide variant not specified [RCV000217887] Chr4:6300815 [GRCh38]
Chr4:6302542 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) deletion Monogenic diabetes [RCV001174417]|Rare genetic deafness [RCV000599633]|not provided [RCV000215662] Chr4:6300854..6300856 [GRCh38]
Chr4:6302581..6302583 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.2355C>T (p.Ser785=) single nucleotide variant WFS1-related disorder [RCV004532751]|Wolfram syndrome 1 [RCV003147414]|not provided [RCV001668382]|not specified [RCV000217941] Chr4:6302150 [GRCh38]
Chr4:6303877 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.901G>A (p.Glu301Lys) single nucleotide variant Wolfram syndrome 1 [RCV002509525]|not provided [RCV000722241] Chr4:6300696 [GRCh38]
Chr4:6302423 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.996C>T (p.Ile332=) single nucleotide variant Wolfram syndrome 1 [RCV002509309]|not specified [RCV000218368] Chr4:6300791 [GRCh38]
Chr4:6302518 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) single nucleotide variant Cataract 41 [RCV000765773]|WFS1-related disorder [RCV004737345]|Wolfram syndrome 1 [RCV002509054]|not provided [RCV002519659]|not specified [RCV000214251] Chr4:6291271 [GRCh38]
Chr4:6292998 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153154]|WFS1-Related Spectrum Disorders [RCV001153155]|Wolfram syndrome 1 [RCV003150109]|not provided [RCV000945710]|not specified [RCV000216086] Chr4:6301194 [GRCh38]
Chr4:6302921 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) single nucleotide variant Cataract 41 [RCV002485410]|not provided [RCV001857755]|not specified [RCV000220960] Chr4:6302202 [GRCh38]
Chr4:6303929 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) single nucleotide variant Cataract 41 [RCV002478782]|Wolfram syndrome 1 [RCV003148683]|not specified [RCV000222582] Chr4:6302355 [GRCh38]
Chr4:6304082 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) single nucleotide variant Cataract 41 [RCV005031790]|Wolfram syndrome 1 [RCV001838992]|Wolfram syndrome 1 [RCV003126611]|not provided [RCV001589140]|not specified [RCV000214468] Chr4:6301488 [GRCh38]
Chr4:6303215 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr) single nucleotide variant Wolfram syndrome 1 [RCV003147416]|not provided [RCV000998220]|not specified [RCV000216280] Chr4:6302427 [GRCh38]
Chr4:6304154 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) single nucleotide variant Cataract 41 [RCV002485409]|not specified [RCV000218792] Chr4:6301500 [GRCh38]
Chr4:6303227 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) single nucleotide variant Cataract 41 [RCV005025353]|Wolfram syndrome 1 [RCV002288843]|not provided [RCV001291575]|not specified [RCV000221182] Chr4:6300832 [GRCh38]
Chr4:6302559 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000404067]|WFS1-Related Spectrum Disorders [RCV000311096]|Wolfram syndrome 1 [RCV003126607]|not provided [RCV001853422]|not specified [RCV000223036] Chr4:6301085 [GRCh38]
Chr4:6302812 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) single nucleotide variant Cataract 41 [RCV002494578]|Monogenic diabetes [RCV001174389]|not provided [RCV001853497]|not specified [RCV000214867] Chr4:6300847 [GRCh38]
Chr4:6302574 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004821279]|Cataract 41 [RCV005031791]|not provided [RCV002057181]|not specified [RCV000216669] Chr4:6302201 [GRCh38]
Chr4:6303928 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2575C>A (p.Arg859=) single nucleotide variant not specified [RCV000221575] Chr4:6302370 [GRCh38]
Chr4:6304097 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000266552]|WFS1-Related Spectrum Disorders [RCV000326197]|Wolfram syndrome 1 [RCV003148681]|not provided [RCV000870982]|not specified [RCV000214987] Chr4:6302165 [GRCh38]
Chr4:6303892 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000394887]|WFS1-Related Spectrum Disorders [RCV000299874]|not provided [RCV000946363]|not specified [RCV000219272] Chr4:6277496 [GRCh38]
Chr4:6279223 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1194C>A (p.Gly398=) single nucleotide variant not provided [RCV002519622]|not specified [RCV000219435] Chr4:6300989 [GRCh38]
Chr4:6302716 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.712+20C>G single nucleotide variant not provided [RCV002185522] Chr4:6292017 [GRCh38]
Chr4:6293744 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2207G>A (p.Gly736Asp) single nucleotide variant not provided [RCV000756931] Chr4:6302002 [GRCh38]
Chr4:6303729 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1558C>G (p.Gln520Glu) single nucleotide variant Inborn genetic diseases [RCV002533800]|not provided [RCV000756933] Chr4:6301353 [GRCh38]
Chr4:6303080 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.601C>A (p.Leu201Met) single nucleotide variant Wolfram syndrome 1 [RCV002509092]|not provided [RCV000756935] Chr4:6291337 [GRCh38]
Chr4:6293064 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) single nucleotide variant Cataract 41 [RCV002479950]|Wolfram syndrome 1 [RCV002509055]|not provided [RCV001857836]|not specified [RCV000238677] Chr4:6277624 [GRCh38]
Chr4:6279351 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.*683C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000278025]|WFS1-Related Spectrum Disorders [RCV000388760]|Wolfram syndrome 1 [RCV003126714]|not provided [RCV004716265] Chr4:6303151 [GRCh38]
Chr4:6304878 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2436C>T (p.Ser812=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000278650]|WFS1-Related Spectrum Disorders [RCV000388081]|Wolfram syndrome 1 [RCV003147449]|not provided [RCV000842423] Chr4:6302231 [GRCh38]
Chr4:6303958 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.*242G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000377244]|WFS1-Related Spectrum Disorders [RCV000285131]|Wolfram syndrome 1 [RCV003126697] Chr4:6302710 [GRCh38]
Chr4:6304437 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) single nucleotide variant Cataract 41 [RCV002502346]|Diabetes mellitus [RCV001175324]|WFS1-Related Spectrum Disorders [RCV000285512]|not provided [RCV001861234] Chr4:6301634 [GRCh38]
Chr4:6303361 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1122C>G (p.Phe374Leu) single nucleotide variant Wolfram syndrome 1 [RCV002509078]|not provided [RCV000519714] Chr4:6300917 [GRCh38]
Chr4:6302644 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) single nucleotide variant Cataract 41 [RCV002500904]|Wolfram syndrome 1 [RCV003126655]|not provided [RCV001403247]|not specified [RCV000248752] Chr4:6301115 [GRCh38]
Chr4:6302842 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.*637T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000270540]|WFS1-Related Spectrum Disorders [RCV000362796]|Wolfram syndrome 1 [RCV003126712]|not provided [RCV004716264] Chr4:6303105 [GRCh38]
Chr4:6304832 [GRCh37]
Chr4:4p16.1		 benign|likely benign
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006005.3(WFS1):c.2364C>T (p.Asp788=) single nucleotide variant Wolfram syndrome 1 [RCV003148697]|not provided [RCV000949210]|not specified [RCV000246884] Chr4:6302159 [GRCh38]
Chr4:6303886 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2623G>A (p.Val875Met) single nucleotide variant Wolfram syndrome 1 [RCV003126656]|not provided [RCV005090262]|not specified [RCV000249383] Chr4:6302418 [GRCh38]
Chr4:6304145 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000323738]|Optic atrophy [RCV004816596]|WFS1-Related Spectrum Disorders [RCV000268583]|Wolfram syndrome 1 [RCV003126693]|not provided [RCV001795968] Chr4:6301128 [GRCh38]
Chr4:6302855 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1510C>A (p.Pro504Thr) single nucleotide variant Wolfram syndrome 1 [RCV003126752]|not provided [RCV000487542] Chr4:6301305 [GRCh38]
Chr4:6303032 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1134C>G (p.Thr378=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151789]|WFS1-Related Spectrum Disorders [RCV001151790]|not provided [RCV001577332]|not specified [RCV000247636] Chr4:6300929 [GRCh38]
Chr4:6302656 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000370480]|Cataract 41 [RCV002480219]|WFS1-Related Spectrum Disorders [RCV000275825]|not provided [RCV001861235] Chr4:6301933 [GRCh38]
Chr4:6303660 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000380880]|Cataract 41 [RCV002502347]|WFS1-Related Spectrum Disorders [RCV000272522]|Wolfram syndrome 1 [RCV003148733]|not provided [RCV001861236] Chr4:6302167 [GRCh38]
Chr4:6303894 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1452T>C (p.Leu484=) single nucleotide variant not provided [RCV003718147]|not specified [RCV000248256] Chr4:6301247 [GRCh38]
Chr4:6302974 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000304238]|Cataract 41 [RCV002502348]|Inborn genetic diseases [RCV002520262]|WFS1-Related Spectrum Disorders [RCV000403291]|not provided [RCV000489025] Chr4:6302254 [GRCh38]
Chr4:6303981 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2298C>A (p.His766Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000290786]|WFS1-Related Spectrum Disorders [RCV000350469]|Wolfram syndrome 1 [RCV003151041] Chr4:6302093 [GRCh38]
Chr4:6303820 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.315+11C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000396764]|WFS1-Related Spectrum Disorders [RCV000305042]|Wolfram syndrome 1 [RCV002509062]|not provided [RCV002523474] Chr4:6287186 [GRCh38]
Chr4:6288913 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.*274A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000408026]|WFS1-Related Spectrum Disorders [RCV000292459]|Wolfram syndrome 1 [RCV003126699]|not provided [RCV001653679] Chr4:6302742 [GRCh38]
Chr4:6304469 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.*253G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000380949]|WFS1-Related Spectrum Disorders [RCV000323988]|not provided [RCV001618624] Chr4:6302721 [GRCh38]
Chr4:6304448 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000295015]|Cataract 41 [RCV005033883]|WFS1-Related Spectrum Disorders [RCV000348875]|Wolfram syndrome 1 [RCV002508932]|Wolfram syndrome 1 [RCV003227746]|not provided [RCV003546543]|not specified [RCV002248624] Chr4:6277483 [GRCh38]
Chr4:6279210 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.*90G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000310820]|WFS1-Related Spectrum Disorders [RCV000367887]|not provided [RCV001653678] Chr4:6302558 [GRCh38]
Chr4:6304285 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000397077]|Cataract 41 [RCV005033885]|WFS1-Related Spectrum Disorders [RCV000311200]|not provided [RCV001555289]|not specified [RCV000612443] Chr4:6301821 [GRCh38]
Chr4:6303548 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*288C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000349775]|WFS1-Related Spectrum Disorders [RCV000405094]|Wolfram syndrome 1 [RCV003126700] Chr4:6302756 [GRCh38]
Chr4:6304483 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2157C>T (p.Ala719=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000298215]|WFS1-Related Spectrum Disorders [RCV000353840]|Wolfram syndrome 1 [RCV003126694]|not provided [RCV000916957] Chr4:6301952 [GRCh38]
Chr4:6303679 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.975C>T (p.Asn325=) single nucleotide variant Wolfram syndrome 1 [RCV002509056]|not provided [RCV000726076]|not specified [RCV000304909] Chr4:6300770 [GRCh38]
Chr4:6302497 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2549G>A (p.Cys850Tyr) single nucleotide variant Wolfram syndrome 1 [RCV003147443]|not provided [RCV000377710] Chr4:6302344 [GRCh38]
Chr4:6304071 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.-105T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000371417]|WFS1-Related Spectrum Disorders [RCV000260447]|Wolfram syndrome 1 [RCV002465631] Chr4:6269915 [GRCh38]
Chr4:6271642 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.1947C>T (p.Phe649=) single nucleotide variant not provided [RCV000276447] Chr4:6301742 [GRCh38]
Chr4:6303469 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-55C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000321748]|WFS1-Related Spectrum Disorders [RCV000283088] Chr4:6269965 [GRCh38]
Chr4:6271692 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1416C>A (p.Pro472=) single nucleotide variant Wolfram syndrome 1 [RCV003126666]|not provided [RCV000312475] Chr4:6301211 [GRCh38]
Chr4:6302938 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004584656]|Cataract 41 [RCV002480014]|not provided [RCV000312654] Chr4:6302415 [GRCh38]
Chr4:6304142 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001152090]|Cataract 41 [RCV005031869]|WFS1-Related Spectrum Disorders [RCV001152089]|not provided [RCV000280969] Chr4:6301666 [GRCh38]
Chr4:6303393 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.*683delinsTGGCTGTGGGGGA indel Nonsyndromic Hearing Loss, Dominant [RCV000274395]|WFS1-Related Spectrum Disorders [RCV000331804] Chr4:6303151 [GRCh38]
Chr4:6304878 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) single nucleotide variant Monogenic diabetes [RCV000664092]|WFS1-related disorder [RCV004543084]|Wolfram syndrome 1 [RCV002467719]|Wolfram syndrome 1 [RCV003126663]|not provided [RCV000725856]|not specified [RCV000354766] Chr4:6301834 [GRCh38]
Chr4:6303561 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) single nucleotide variant Cataract 41 [RCV002502148]|not provided [RCV001711862]|not specified [RCV000323516] Chr4:6300938 [GRCh38]
Chr4:6302665 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1099G>A (p.Asp367Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000320553]|WFS1-Related Spectrum Disorders [RCV000265550]|not provided [RCV003766010] Chr4:6300894 [GRCh38]
Chr4:6302621 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) single nucleotide variant not provided [RCV000726324]|not specified [RCV000292988] Chr4:6302165 [GRCh38]
Chr4:6303892 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.114C>T (p.Ser38=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001156918]|WFS1-Related Spectrum Disorders [RCV001156919]|Wolfram syndrome 1 [RCV002509057]|not provided [RCV000878611]|not specified [RCV000302883] Chr4:6277569 [GRCh38]
Chr4:6279296 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) single nucleotide variant Cataract 41 [RCV002487286]|Wolfram syndrome 1 [RCV002509354]|not provided [RCV000370601] Chr4:6300789 [GRCh38]
Chr4:6302516 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2026C>A (p.Arg676Ser) single nucleotide variant not provided [RCV000489108] Chr4:6301821 [GRCh38]
Chr4:6303548 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1572C>G (p.Phe524Leu) single nucleotide variant Wolfram syndrome 1 [RCV003126790]|not provided [RCV000523871] Chr4:6301367 [GRCh38]
Chr4:6303094 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000490380]|not provided [RCV001300481] Chr4:6301641 [GRCh38]
Chr4:6303368 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) single nucleotide variant Cataract 41 [RCV002489199]|Inborn genetic diseases [RCV004678726]|Optic atrophy [RCV004816720]|WFS1-related disorder [RCV004527597]|Wolfram syndrome 1 [RCV004698343]|Wolfram syndrome 1 [RCV004772936]|Wolfram syndrome [RCV004017644]|not provided [RCV000489883] Chr4:6301468 [GRCh38]
Chr4:6303195 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) single nucleotide variant Cataract 41 [RCV002496882]|WFS1-related disorder [RCV004541536]|Wolfram syndrome 1 [RCV003126753]|not provided [RCV000488126] Chr4:6301586 [GRCh38]
Chr4:6303313 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) deletion Wolfram syndrome 1 [RCV003126754]|not provided [RCV000488192] Chr4:6302002..6302005 [GRCh38]
Chr4:6303729..6303732 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2061G>C (p.Gln687His) single nucleotide variant Cataract 41 [RCV005034030]|not provided [RCV000490103] Chr4:6301856 [GRCh38]
Chr4:6303583 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) single nucleotide variant Cataract 41 [RCV005034027]|not provided [RCV000490173] Chr4:6301822 [GRCh38]
Chr4:6303549 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1311C>T (p.Gly437=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000303795]|WFS1-Related Spectrum Disorders [RCV000358560]|Wolfram syndrome 1 [RCV003126692] Chr4:6301106 [GRCh38]
Chr4:6302833 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.*365_*369del deletion Nonsyndromic Hearing Loss, Dominant [RCV000304463]|WFS1-Related Spectrum Disorders [RCV000361481]|Wolfram syndrome 1 [RCV003126704] Chr4:6302830..6302834 [GRCh38]
Chr4:6304557..6304561 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1799C>T (p.Thr600Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000388178]|WFS1-Related Spectrum Disorders [RCV000333607] Chr4:6301594 [GRCh38]
Chr4:6303321 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-133G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000397359]|WFS1-Related Spectrum Disorders [RCV000308356]|Wolfram syndrome 1 [RCV002465627] Chr4:6269887 [GRCh38]
Chr4:6271614 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.*356_*357insTT insertion Nonsyndromic Hearing Loss, Dominant [RCV000299844]|WFS1-Related Spectrum Disorders [RCV000405832]|Wolfram syndrome 1 [RCV003126702] Chr4:6302823..6302824 [GRCh38]
Chr4:6304550..6304551 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*258A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000288853]|WFS1-Related Spectrum Disorders [RCV000346119]|Wolfram syndrome 1 [RCV003126698] Chr4:6302726 [GRCh38]
Chr4:6304453 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.471C>T (p.Ser157=) single nucleotide variant Wolfram syndrome 1 [RCV002509083]|not provided [RCV000877801] Chr4:6291207 [GRCh38]
Chr4:6292934 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.498C>G (p.Leu166=) single nucleotide variant Wolfram syndrome 1 [RCV002509090]|not provided [RCV000730089] Chr4:6291234 [GRCh38]
Chr4:6292961 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met) single nucleotide variant Cataract 41 [RCV005034069]|Type 2 diabetes mellitus [RCV001198043]|Wolfram syndrome 1 [RCV003126789]|not provided [RCV000520862] Chr4:6301262 [GRCh38]
Chr4:6302989 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr) single nucleotide variant Cataract 41 [RCV002481734]|Wolfram syndrome 1 [RCV003126795]|not provided [RCV000520878] Chr4:6301987 [GRCh38]
Chr4:6303714 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1656C>A (p.Thr552=) single nucleotide variant not provided [RCV001712682] Chr4:6301451 [GRCh38]
Chr4:6303178 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.816C>T (p.Asp272=) single nucleotide variant Cataract 41 [RCV002483676]|Wolfram syndrome 1 [RCV002509464]|not provided [RCV002062136]|not specified [RCV000602954] Chr4:6295144 [GRCh38]
Chr4:6296871 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2514T>C (p.Pro838=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001152404]|WFS1-Related Spectrum Disorders [RCV001152405]|WFS1-related disorder [RCV004738168]|Wolfram syndrome 1 [RCV003147593]|not provided [RCV002558325] Chr4:6302309 [GRCh38]
Chr4:6304036 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) single nucleotide variant Cataract 41 [RCV002507272]|Wolfram syndrome 1 [RCV003126922]|not provided [RCV000722473] Chr4:6301978 [GRCh38]
Chr4:6303705 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.726C>T (p.Ile242=) single nucleotide variant Wolfram syndrome 1 [RCV002509460]|not provided [RCV000727378] Chr4:6295054 [GRCh38]
Chr4:6296781 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1149C>T (p.Arg383=) single nucleotide variant Wolfram syndrome 1 [RCV002509091]|not provided [RCV000730231] Chr4:6300944 [GRCh38]
Chr4:6302671 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.884C>T (p.Ala295Val) single nucleotide variant not provided [RCV000732469] Chr4:6300679 [GRCh38]
Chr4:6302406 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) single nucleotide variant Cataract 41 [RCV005036054]|Wolfram syndrome 1 [RCV002509089]|not provided [RCV000729050] Chr4:6277609 [GRCh38]
Chr4:6279336 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV000714795]|Cataract 41 [RCV000765777]|Optic atrophy [RCV004816645]|Wolfram syndrome 1 [RCV000414884]|not provided [RCV001851006] Chr4:6300874 [GRCh38]
Chr4:6302601 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) single nucleotide variant Cataract 41 [RCV002477720]|WFS1-related disorder [RCV004535859]|not provided [RCV000732844] Chr4:6301717 [GRCh38]
Chr4:6303444 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) single nucleotide variant Cataract 41 [RCV002506007]|Hearing impairment [RCV000414885]|not provided [RCV002521447] Chr4:6302232 [GRCh38]
Chr4:6303959 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) single nucleotide variant Cataract 41 [RCV005033949]|Wolfram syndrome 1 [RCV000415192]|not provided [RCV002521464] Chr4:6301986 [GRCh38]
Chr4:6303713 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) single nucleotide variant Optic atrophy [RCV004816642]|Wolfram syndrome 1 [RCV002469144]|not provided [RCV000413912] Chr4:6289047 [GRCh38]
Chr4:6290774 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2385G>A (p.Glu795=) single nucleotide variant not provided [RCV000728079] Chr4:6302180 [GRCh38]
Chr4:6303907 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_006005.3(WFS1):c.543G>C (p.Leu181=) single nucleotide variant Wolfram syndrome 1 [RCV002509067]|not specified [RCV000420748] Chr4:6291279 [GRCh38]
Chr4:6293006 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1302C>T (p.Val434=) single nucleotide variant Wolfram syndrome 1 [RCV003126722]|not provided [RCV000420773] Chr4:6301097 [GRCh38]
Chr4:6302824 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) single nucleotide variant Cataract 41 [RCV002488971]|Wolfram syndrome 1 [RCV003126735]|not provided [RCV000865092] Chr4:6301601 [GRCh38]
Chr4:6303328 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.924C>T (p.Ser308=) single nucleotide variant Wolfram syndrome 1 [RCV002509383]|not provided [RCV000982187]|not specified [RCV000427602] Chr4:6300719 [GRCh38]
Chr4:6302446 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.-27C>T single nucleotide variant Wolfram syndrome 1 [RCV002465651]|not specified [RCV000437981] Chr4:6269993 [GRCh38]
Chr4:6271720 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1923G>A (p.Thr641=) single nucleotide variant Wolfram syndrome 1 [RCV003128190]|not provided [RCV001459951]|not specified [RCV000441905] Chr4:6301718 [GRCh38]
Chr4:6303445 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.578A>G (p.Lys193Arg) single nucleotide variant Monogenic diabetes [RCV000445392]|Wolfram syndrome 1 [RCV002509071]|not provided [RCV001851111] Chr4:6291314 [GRCh38]
Chr4:6293041 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1761G>C (p.Arg587=) single nucleotide variant Wolfram syndrome 1 [RCV003126726]|not provided [RCV002062625]|not specified [RCV000424281] Chr4:6301556 [GRCh38]
Chr4:6303283 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2589C>T (p.Ile863=) single nucleotide variant not provided [RCV000886060] Chr4:6302384 [GRCh38]
Chr4:6304111 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2565A>T (p.Ser855=) single nucleotide variant Cataract 41 [RCV002502581]|not provided [RCV001721445] Chr4:6302360 [GRCh38]
Chr4:6304087 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004668975]|Cataract 41 [RCV005033963]|Meniere disease [RCV004567928]|Monogenic diabetes [RCV000445499]|Optic atrophy [RCV004816668]|WFS1-related disorder [RCV004529580]|Wolfram syndrome 1 [RCV002250628]|not provided [RCV001351930] Chr4:6301848 [GRCh38]
Chr4:6303575 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) single nucleotide variant Cataract 41 [RCV002488989]|Monogenic diabetes [RCV000445526]|Wolfram syndrome 1 [RCV002509070] Chr4:6277627 [GRCh38]
Chr4:6279354 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.667C>A (p.Leu223Met) single nucleotide variant Monogenic diabetes [RCV000445527]|Wolfram syndrome 1 [RCV002509073] Chr4:6291952 [GRCh38]
Chr4:6293679 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1868T>A (p.Met623Lys) single nucleotide variant Monogenic diabetes [RCV000445535]|Wolfram syndrome 1 [RCV003126740]|not provided [RCV001861647] Chr4:6301663 [GRCh38]
Chr4:6303390 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.316-14T>C single nucleotide variant Cataract 41 [RCV002488931]|not provided [RCV002062781]|not specified [RCV000439042] Chr4:6288973 [GRCh38]
Chr4:6290700 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) single nucleotide variant Cataract 41 [RCV002488895]|WFS1-related disorder [RCV004539787]|Wolfram syndrome 1 [RCV003147453]|not provided [RCV000872828] Chr4:6302417 [GRCh38]
Chr4:6304144 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) single nucleotide variant Cataract 41 [RCV002488955]|Wolfram syndrome 1 [RCV003126734]|not provided [RCV000872583]|not specified [RCV000432861] Chr4:6301565 [GRCh38]
Chr4:6303292 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1740G>A (p.Val580=) single nucleotide variant not provided [RCV001704539]|not specified [RCV000432930] Chr4:6301535 [GRCh38]
Chr4:6303262 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.69G>A (p.Ala23=) single nucleotide variant Wolfram syndrome 1 [RCV002509065]|not provided [RCV001698243] Chr4:6277524 [GRCh38]
Chr4:6279251 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) single nucleotide variant Cataract 41 [RCV002481317]|Wolfram syndrome 1 [RCV003128191]|not provided [RCV002521794]|not specified [RCV000433100] Chr4:6301724 [GRCh38]
Chr4:6303451 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1350T>C (p.His450=) single nucleotide variant Wolfram syndrome 1 [RCV003126723]|not specified [RCV000420336] Chr4:6301145 [GRCh38]
Chr4:6302872 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser) single nucleotide variant not provided [RCV000440768] Chr4:6301965 [GRCh38]
Chr4:6303692 [GRCh37]
Chr4:4p16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.124del (p.Arg42fs) deletion Wolfram syndrome 1 [RCV002509074]|not provided [RCV000479033] Chr4:6277576 [GRCh38]
Chr4:6279303 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) single nucleotide variant Optic atrophy [RCV004816689]|Wolfram syndrome 1 [RCV002469171]|not provided [RCV000486801] Chr4:6291341 [GRCh38]
Chr4:6293068 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.291C>T (p.Ala97=) single nucleotide variant Wolfram syndrome 1 [RCV002509075]|not provided [RCV001857185]|not specified [RCV000503242] Chr4:6287151 [GRCh38]
Chr4:6288878 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV003335435]|Cataract 41 [RCV002506232]|Wolfram syndrome 1 [RCV003233655]|Wolfram syndrome [RCV000503566]|Wolfram-like syndrome [RCV001849390]|not provided [RCV001857186] Chr4:6302449 [GRCh38]
Chr4:6304176 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) single nucleotide variant not provided [RCV000730495] Chr4:6277628 [GRCh38]
Chr4:6279355 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2001G>C (p.Gln667His) single nucleotide variant not provided [RCV000585072] Chr4:6301796 [GRCh38]
Chr4:6303523 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1084C>T (p.Leu362Phe) single nucleotide variant Inborn genetic diseases [RCV003295551] Chr4:6300879 [GRCh38]
Chr4:6302606 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.642G>A (p.Ala214=) single nucleotide variant Cataract 41 [RCV002498926]|Wolfram syndrome 1 [RCV002509082]|not provided [RCV000873315]|not specified [RCV000600994] Chr4:6291927 [GRCh38]
Chr4:6293654 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.220G>A (p.Ala74Thr) single nucleotide variant not provided [RCV003312600] Chr4:6277675 [GRCh38]
Chr4:6279402 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2278C>A (p.Leu760Met) single nucleotide variant Inborn genetic diseases [RCV002529364]|Wolfram syndrome 1 [RCV003128248]|not provided [RCV001860258]|not specified [RCV000610637] Chr4:6302073 [GRCh38]
Chr4:6303800 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.771C>T (p.Gly257=) single nucleotide variant Wolfram syndrome 1 [RCV002509469]|not provided [RCV002064060]|not specified [RCV000610763] Chr4:6295099 [GRCh38]
Chr4:6296826 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile) single nucleotide variant Cataract 41 [RCV005034035]|not provided [RCV000493450] Chr4:6300877 [GRCh38]
Chr4:6302604 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) microsatellite Cataract 41 [RCV002481565]|Optic atrophy [RCV004816729]|See cases [RCV002252138]|WFS1-Related Spectrum Disorders [RCV000778738]|WFS1-related disorder [RCV004535551]|Wolfram syndrome 1 [RCV001672804]|not provided [RCV000494474] Chr4:6301023..6301026 [GRCh38]
Chr4:6302750..6302753 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2074C>T (p.His692Tyr) single nucleotide variant Wolfram syndrome 1 [RCV003126755]|not provided [RCV000494489] Chr4:6301869 [GRCh38]
Chr4:6303596 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV003335407]|not provided [RCV000494515] Chr4:6302206 [GRCh38]
Chr4:6303933 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) single nucleotide variant Cataract 41 [RCV000765784]|not provided [RCV000506948] Chr4:6301519 [GRCh38]
Chr4:6303246 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
Single allele variation not specified [RCV000507010] Chr4:6303908..6303909 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1014C>T (p.Ile338=) single nucleotide variant not provided [RCV000597457] Chr4:6300809 [GRCh38]
Chr4:6302536 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2397C>G (p.Thr799=) single nucleotide variant WFS1-related disorder [RCV004530749]|Wolfram syndrome 1 [RCV003148802]|not provided [RCV002062897]|not specified [RCV000605848] Chr4:6302192 [GRCh38]
Chr4:6303919 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.787C>T (p.Leu263=) single nucleotide variant Wolfram syndrome 1 [RCV002509084]|not provided [RCV002528583]|not specified [RCV000607667] Chr4:6295115 [GRCh38]
Chr4:6296842 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1335G>C (p.Leu445=) single nucleotide variant Wolfram syndrome 1 [RCV003126871]|not provided [RCV000876767]|not specified [RCV000607704] Chr4:6301130 [GRCh38]
Chr4:6302857 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1818G>A (p.Val606=) single nucleotide variant Wolfram syndrome 1 [RCV003126858]|not specified [RCV000602464] Chr4:6301613 [GRCh38]
Chr4:6303340 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153484]|WFS1-Related Spectrum Disorders [RCV001153485]|WFS1-related disorder [RCV004544798]|Wolfram syndrome 1 [RCV003126869]|not provided [RCV001704817] Chr4:6302003 [GRCh38]
Chr4:6303730 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155566]|Cataract 41 [RCV005034187]|WFS1-Related Spectrum Disorders [RCV001155565]|not provided [RCV001558737]|not specified [RCV000609447] Chr4:6300780 [GRCh38]
Chr4:6302507 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) single nucleotide variant Cataract 41 [RCV002491248]|WFS1-related disorder [RCV004530750]|Wolfram syndrome 1 [RCV003128193]|not provided [RCV000949208] Chr4:6301880 [GRCh38]
Chr4:6303607 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.132C>A (p.Pro44=) single nucleotide variant WFS1-related disorder [RCV004530747]|not provided [RCV002062855]|not specified [RCV000609785] Chr4:6277587 [GRCh38]
Chr4:6279314 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.754A>G (p.Lys252Glu) single nucleotide variant Wolfram syndrome 1 [RCV002509466]|not specified [RCV000612590] Chr4:6295082 [GRCh38]
Chr4:6296809 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) single nucleotide variant Cataract 41 [RCV000765778]|Monogenic diabetes [RCV001174418]|Retinal dystrophy [RCV004817813]|not provided [RCV000762133]|not specified [RCV000615343] Chr4:6300919 [GRCh38]
Chr4:6302646 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu) single nucleotide variant Wolfram syndrome 1 [RCV003128249]|not specified [RCV000615392] Chr4:6302225 [GRCh38]
Chr4:6303952 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) single nucleotide variant Cataract 41 [RCV005034188]|Inborn genetic diseases [RCV002532738]|WFS1-related disorder [RCV004737882]|Wolfram syndrome 1 [RCV003126842]|not provided [RCV001366053]|not specified [RCV000615776] Chr4:6301501 [GRCh38]
Chr4:6303228 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) single nucleotide variant Cataract 41 [RCV005034186]|WFS1-related disorder [RCV004530733]|Wolfram syndrome 1 [RCV002509080]|not provided [RCV002532737]|not specified [RCV000612750] Chr4:6295120 [GRCh38]
Chr4:6296847 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.436C>T (p.Arg146Cys) single nucleotide variant Wolfram syndrome 1 [RCV002509085]|not specified [RCV000612852] Chr4:6289107 [GRCh38]
Chr4:6290834 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.1242C>T (p.Phe414=) single nucleotide variant Wolfram syndrome 1 [RCV002509471]|not provided [RCV002065384]|not specified [RCV000616090] Chr4:6301037 [GRCh38]
Chr4:6302764 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1656C>T (p.Thr552=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151989]|WFS1-Related Spectrum Disorders [RCV001151988]|Wolfram syndrome 1 [RCV003126866]|not provided [RCV001718966] Chr4:6301451 [GRCh38]
Chr4:6303178 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) single nucleotide variant Wolfram syndrome 1 [RCV003126844]|not provided [RCV002529336]|not specified [RCV000608372] Chr4:6301564 [GRCh38]
Chr4:6303291 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.889A>G (p.Met297Val) single nucleotide variant Cataract 41 [RCV002491238]|Wolfram syndrome 1 [RCV002509467]|not provided [RCV002508236]|not specified [RCV000611113] Chr4:6300684 [GRCh38]
Chr4:6302411 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1503C>T (p.Val501=) single nucleotide variant Wolfram syndrome 1 [RCV003126865]|not provided [RCV000914401]|not specified [RCV000613935] Chr4:6301298 [GRCh38]
Chr4:6303025 [GRCh37]
Chr4:4p16.1		 benign|likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del) microsatellite Wolfram syndrome 1 [RCV002509508]|not provided [RCV000681944] Chr4:6300841..6300843 [GRCh38]
Chr4:6302568..6302570 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) deletion Cataract 41 [RCV002499212]|Wolfram syndrome 1 [RCV001712777]|not provided [RCV000681953] Chr4:6302436..6302439 [GRCh38]
Chr4:6304163..6304166 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_006005.3(WFS1):c.461-169_461-168insAGGGGCATGGC insertion not provided [RCV001612778] Chr4:6291024..6291025 [GRCh38]
Chr4:6292751..6292752 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.71G>A (p.Arg24His) single nucleotide variant Cataract 41 [RCV002488370]|not provided [RCV001550019] Chr4:6277526 [GRCh38]
Chr4:6279253 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.363C>T (p.Leu121=) single nucleotide variant Wolfram syndrome 1 [RCV002509109]|not provided [RCV000878734] Chr4:6289034 [GRCh38]
Chr4:6290761 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1863G>C (p.Val621=) single nucleotide variant Wolfram syndrome 1 [RCV003127538]|not provided [RCV000880097] Chr4:6301658 [GRCh38]
Chr4:6303385 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.315+12G>A single nucleotide variant Wolfram syndrome 1 [RCV002509093]|not provided [RCV000827401] Chr4:6287187 [GRCh38]
Chr4:6288914 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2625G>A (p.Val875=) single nucleotide variant Wolfram syndrome 1 [RCV003147566]|not provided [RCV000938798] Chr4:6302420 [GRCh38]
Chr4:6304147 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2286G>A (p.Lys762=) single nucleotide variant Cataract 41 [RCV002505402]|Wolfram syndrome 1 [RCV003128196]|not provided [RCV000945380] Chr4:6302081 [GRCh38]
Chr4:6303808 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1362C>T (p.Tyr454=) single nucleotide variant not provided [RCV000892557] Chr4:6301157 [GRCh38]
Chr4:6302884 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.232+90G>A single nucleotide variant Wolfram syndrome 1 [RCV002509101]|not provided [RCV000835873] Chr4:6277777 [GRCh38]
Chr4:6279504 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.316-235C>G single nucleotide variant Wolfram syndrome 1 [RCV002509102]|not provided [RCV000836128] Chr4:6288752 [GRCh38]
Chr4:6290479 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.461-91G>A single nucleotide variant Wolfram syndrome 1 [RCV002509103]|not provided [RCV000836415] Chr4:6291106 [GRCh38]
Chr4:6292833 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.747G>A (p.Glu249=) single nucleotide variant Cataract 41 [RCV002487989]|Wolfram syndrome 1 [RCV002509579]|not provided [RCV000914468] Chr4:6295075 [GRCh38]
Chr4:6296802 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1080C>T (p.Cys360=) single nucleotide variant Wolfram syndrome 1 [RCV002509580]|not provided [RCV000914480] Chr4:6300875 [GRCh38]
Chr4:6302602 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1674C>G (p.Arg558=) single nucleotide variant not specified [RCV000825264] Chr4:6301469 [GRCh38]
Chr4:6303196 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.713-1024A>T single nucleotide variant Wolfram syndrome 1 [RCV002509563]|not provided [RCV000830648] Chr4:6294017 [GRCh38]
Chr4:6295744 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.*260G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001152597]|WFS1-Related Spectrum Disorders [RCV001152598]|Wolfram syndrome 1 [RCV003127653] Chr4:6302728 [GRCh38]
Chr4:6304455 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001152197]|WFS1-Related Spectrum Disorders [RCV001152196]|Wolfram syndrome 1 [RCV003127652] Chr4:6301930 [GRCh38]
Chr4:6303657 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) single nucleotide variant Cataract 41 [RCV002479153]|See cases [RCV002252279]|WFS1-Related Spectrum Disorders [RCV002221595]|Wolfram syndrome 1 [RCV000987412]|not provided [RCV001858665] Chr4:6301802 [GRCh38]
Chr4:6303529 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2480C>T (p.Thr827Ile) single nucleotide variant Type 2 diabetes mellitus [RCV001195948]|Wolfram syndrome 1 [RCV003147594] Chr4:6302275 [GRCh38]
Chr4:6304002 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1162C>G (p.Leu388Val) single nucleotide variant Wolfram syndrome 1 [RCV002509586]|not provided [RCV000993555] Chr4:6300957 [GRCh38]
Chr4:6302684 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.133G>A (p.Gly45Arg) single nucleotide variant Wolfram syndrome 1 [RCV002509115]|not provided [RCV000993557] Chr4:6277588 [GRCh38]
Chr4:6279315 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1829del (p.Leu610fs) deletion Wolfram syndrome 1 [RCV000987410] Chr4:6301623 [GRCh38]
Chr4:6303350 [GRCh37]
Chr4:4p16.1		 pathogenic|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.-127A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001156813]|WFS1-Related Spectrum Disorders [RCV001156812]|Wolfram syndrome 1 [RCV002465836] Chr4:6269893 [GRCh38]
Chr4:6271620 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2449C>A (p.Leu817Met) single nucleotide variant Inborn genetic diseases [RCV003292612]|Wolfram syndrome 1 [RCV004786912] Chr4:6302244 [GRCh38]
Chr4:6303971 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.862-1G>A single nucleotide variant not provided [RCV001723485] Chr4:6300656 [GRCh38]
Chr4:6302383 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1820C>G (p.Pro607Arg) single nucleotide variant not provided [RCV001723490] Chr4:6301615 [GRCh38]
Chr4:6303342 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1629C>T (p.Leu543=) single nucleotide variant not provided [RCV001586712] Chr4:6301424 [GRCh38]
Chr4:6303151 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.588C>T (p.Ala196=) single nucleotide variant not provided [RCV001562212] Chr4:6291324 [GRCh38]
Chr4:6293051 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1737G>A (p.Leu579=) single nucleotide variant WFS1-related disorder [RCV004738337]|not provided [RCV001552424] Chr4:6301532 [GRCh38]
Chr4:6303259 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.345C>T (p.Gly115=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155340]|WFS1-Related Spectrum Disorders [RCV001155339]|Wolfram syndrome 1 [RCV002509081]|not provided [RCV001722603] Chr4:6289016 [GRCh38]
Chr4:6290743 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.-4C>T single nucleotide variant Wolfram syndrome 1 [RCV002472311]|not specified [RCV000608618] Chr4:6277452 [GRCh38]
Chr4:6279179 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala) single nucleotide variant Wolfram syndrome 1 [RCV003126843]|not specified [RCV000614284] Chr4:6301263 [GRCh38]
Chr4:6302990 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1204C>T (p.Leu402=) single nucleotide variant Wolfram syndrome 1 [RCV002509472]|not provided [RCV002064214]|not specified [RCV000609060] Chr4:6300999 [GRCh38]
Chr4:6302726 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.831G>A (p.Lys277=) single nucleotide variant Wolfram syndrome 1 [RCV002509474]|not provided [RCV000827310]|not specified [RCV000611723] Chr4:6295159 [GRCh38]
Chr4:6296886 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) single nucleotide variant Cataract 41 [RCV002498982]|Wolfram syndrome 1 [RCV002509473]|not specified [RCV000614845] Chr4:6301005 [GRCh38]
Chr4:6302732 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.477C>T (p.Asn159=) single nucleotide variant Cataract 41 [RCV002498986]|Wolfram syndrome 1 [RCV002509086]|not provided [RCV001568880]|not specified [RCV000614885] Chr4:6291213 [GRCh38]
Chr4:6292940 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln) single nucleotide variant Wolfram syndrome 1 [RCV003126870]|not provided [RCV001860339]|not specified [RCV000599723] Chr4:6277580 [GRCh38]
Chr4:6279307 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr) single nucleotide variant not provided [RCV000512770]|not specified [RCV000825267] Chr4:6302154 [GRCh38]
Chr4:6303881 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.594G>A (p.Ala198=) single nucleotide variant Wolfram syndrome 1 [RCV002509087]|not provided [RCV000827309]|not specified [RCV000605696] Chr4:6291330 [GRCh38]
Chr4:6293057 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) single nucleotide variant Cataract 41 [RCV002498906]|WFS1-related disorder [RCV004530761]|Wolfram syndrome 1 [RCV003126855]|not provided [RCV001697364] Chr4:6301214 [GRCh38]
Chr4:6302941 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1536C>T (p.Leu512=) single nucleotide variant Wolfram syndrome 1 [RCV003126840]|not provided [RCV000596732] Chr4:6301331 [GRCh38]
Chr4:6303058 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.2358C>T (p.Gly786=) single nucleotide variant Wolfram syndrome 1 [RCV003148804]|not provided [RCV000871916] Chr4:6302153 [GRCh38]
Chr4:6303880 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.958C>T (p.Pro320Ser) single nucleotide variant Wolfram syndrome 1 [RCV002509077]|not provided [RCV000513421] Chr4:6300753 [GRCh38]
Chr4:6302480 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2337G>C (p.Val779=) single nucleotide variant not provided [RCV000513574] Chr4:6302132 [GRCh38]
Chr4:6303859 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2516T>C (p.Val839Ala) single nucleotide variant Wolfram syndrome 1 [RCV003147519]|not provided [RCV002529322]|not specified [RCV000606633] Chr4:6302311 [GRCh38]
Chr4:6304038 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2296C>G (p.His766Asp) single nucleotide variant not provided [RCV000658990] Chr4:6302091 [GRCh38]
Chr4:6303818 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.361C>T (p.Leu121Phe) single nucleotide variant not provided [RCV000658088] Chr4:6289032 [GRCh38]
Chr4:6290759 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) single nucleotide variant Cataract 41 [RCV005038334]|Wolfram syndrome 1 [RCV001806811]|not provided [RCV001814605] Chr4:6289068 [GRCh38]
Chr4:6290795 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.*1G>C single nucleotide variant not provided [RCV001567732] Chr4:6302469 [GRCh38]
Chr4:6304196 [GRCh37]
Chr4:4p16.1		 likely benign
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006005.3(WFS1):c.1291G>C (p.Glu431Gln) single nucleotide variant Wolfram syndrome 1 [RCV001647212] Chr4:6301086 [GRCh38]
Chr4:6302813 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) single nucleotide variant Cataract 41 [RCV002493510]|Wolfram syndrome 1 [RCV002509650]|not provided [RCV001776169] Chr4:6300833 [GRCh38]
Chr4:6302560 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.-5-131C>T single nucleotide variant not provided [RCV001668931] Chr4:6277320 [GRCh38]
Chr4:6279047 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1107_1108insA (p.Ala370fs) insertion Wolfram syndrome 1 [RCV001667854] Chr4:6300902..6300903 [GRCh38]
Chr4:6302629..6302630 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.528_531dup (p.Lys178fs) microsatellite Wolfram syndrome 1 [RCV001667858] Chr4:6291263..6291264 [GRCh38]
Chr4:6292990..6292991 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+143C>G single nucleotide variant not provided [RCV001666644] Chr4:6291510 [GRCh38]
Chr4:6291510..6291511 [GRCh38]
Chr4:6293237 [GRCh37]
Chr4:6293237..6293238 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.439del (p.Arg147fs) deletion Optic atrophy [RCV004817969]|Wolfram syndrome 1 [RCV000760988] Chr4:6289109 [GRCh38]
Chr4:6290836 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) microsatellite Cataract 41 [RCV005036090]|See cases [RCV002252232]|Wolfram syndrome 1 [RCV000761346]|not provided [RCV001561058] Chr4:6291304..6291306 [GRCh38]
Chr4:6293031..6293033 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.981C>T (p.Leu327=) single nucleotide variant Wolfram syndrome 1 [RCV002509529]|not provided [RCV000762132] Chr4:6300776 [GRCh38]
Chr4:6302503 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1653C>A (p.Ser551=) single nucleotide variant not provided [RCV000762134] Chr4:6301448 [GRCh38]
Chr4:6303175 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2350A>T (p.Ser784Cys) single nucleotide variant not provided [RCV000762135] Chr4:6302145 [GRCh38]
Chr4:6303872 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1174C>T (p.Gln392Ter) single nucleotide variant not provided [RCV000760394] Chr4:6300969 [GRCh38]
Chr4:6302696 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1309G>C (p.Gly437Arg) single nucleotide variant Wolfram syndrome 1 [RCV004785280]|not provided [RCV001564069] Chr4:6301104 [GRCh38]
Chr4:6302831 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.461-244C>T single nucleotide variant not provided [RCV001545996] Chr4:6290953 [GRCh38]
Chr4:6292680 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) single nucleotide variant Cataract 41 [RCV002493715]|Spastic ataxia [RCV001647248]|not provided [RCV005094405] Chr4:6289072 [GRCh38]
Chr4:6290799 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.232+45T>C single nucleotide variant not provided [RCV001566403] Chr4:6277732 [GRCh38]
Chr4:6279459 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.393C>T (p.Val131=) single nucleotide variant Cataract 41 [RCV002476881]|not provided [RCV001575356] Chr4:6289064 [GRCh38]
Chr4:6290791 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2141_2164del (p.Asn714_Asn721del) deletion Wolfram syndrome 1 [RCV003448859]|not provided [RCV003732589] Chr4:6301933..6301956 [GRCh38]
Chr4:6303660..6303683 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1893C>T (p.Ser631=) single nucleotide variant Wolfram syndrome 1 [RCV003128194]|not provided [RCV000898352] Chr4:6301688 [GRCh38]
Chr4:6303415 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.801C>T (p.Asp267=) single nucleotide variant Cataract 41 [RCV002495325]|WFS1-related disorder [RCV004738044]|Wolfram syndrome 1 [RCV002509108]|not provided [RCV000877251] Chr4:6295129 [GRCh38]
Chr4:6296856 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1884G>A (p.Thr628=) single nucleotide variant WFS1-related disorder [RCV004533649]|Wolfram syndrome 1 [RCV003127554]|not provided [RCV000951502] Chr4:6301679 [GRCh38]
Chr4:6303406 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.417C>G (p.Arg139=) single nucleotide variant WFS1-related disorder [RCV004533622]|not provided [RCV000946034] Chr4:6289088 [GRCh38]
Chr4:6290815 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2445C>G (p.Leu815=) single nucleotide variant Wolfram syndrome 1 [RCV003128261]|not provided [RCV000946207] Chr4:6302240 [GRCh38]
Chr4:6303967 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) single nucleotide variant Cataract 41 [RCV002495472]|Wolfram syndrome 1 [RCV003147565]|not provided [RCV000904510] Chr4:6302402 [GRCh38]
Chr4:6304129 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2466C>T (p.Leu822=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157877]|WFS1-Related Spectrum Disorders [RCV001157878]|WFS1-related disorder [RCV004533549]|not provided [RCV000921941] Chr4:6302261 [GRCh38]
Chr4:6303988 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) single nucleotide variant Cataract 41 [RCV002502637]|Wolfram syndrome 1 [RCV002509577]|not provided [RCV000898449] Chr4:6301028 [GRCh38]
Chr4:6302755 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2631C>T (p.Phe877=) single nucleotide variant Wolfram syndrome 1 [RCV003147567]|not provided [RCV000950921] Chr4:6302426 [GRCh38]
Chr4:6304153 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) single nucleotide variant Cataract 41 [RCV002479087]|Wolfram syndrome 1 [RCV003127553]|not provided [RCV000945765] Chr4:6301475 [GRCh38]
Chr4:6303202 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1173G>A (p.Glu391=) single nucleotide variant Wolfram syndrome 1 [RCV002509578]|not provided [RCV000900083]|not specified [RCV004768736] Chr4:6300968 [GRCh38]
Chr4:6302695 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2032T>G (p.Trp678Gly) single nucleotide variant Wolfram syndrome 1 [RCV003127480]|not specified [RCV000825501] Chr4:6301827 [GRCh38]
Chr4:6303554 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2531C>T (p.Ala844Val) single nucleotide variant Inborn genetic diseases [RCV004678851]|Spastic ataxia [RCV001644837]|not provided [RCV001858398]|not specified [RCV000825502] Chr4:6302326 [GRCh38]
Chr4:6304053 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1836G>A (p.Trp612Ter) single nucleotide variant WFS1-Related Spectrum Disorders [RCV000778740]|not provided [RCV003546599] Chr4:6301631 [GRCh38]
Chr4:6303358 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.234G>C (p.Gly78=) single nucleotide variant Wolfram syndrome 1 [RCV002509113]|not provided [RCV000939697] Chr4:6287094 [GRCh38]
Chr4:6288821 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1893C>A (p.Ser631=) single nucleotide variant not provided [RCV000929605] Chr4:6301688 [GRCh38]
Chr4:6303415 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.57G>A (p.Pro19=) single nucleotide variant Wolfram syndrome 1 [RCV002509114]|not provided [RCV000982666] Chr4:6277512 [GRCh38]
Chr4:6279239 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2445C>T (p.Leu815=) single nucleotide variant not provided [RCV000959181] Chr4:6302240 [GRCh38]
Chr4:6303967 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1125C>T (p.Arg375=) single nucleotide variant Wolfram syndrome 1 [RCV002509111]|not provided [RCV000922275] Chr4:6300920 [GRCh38]
Chr4:6302647 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.712+8C>T single nucleotide variant Cataract 41 [RCV002495248]|Wolfram syndrome 1 [RCV002509107]|not provided [RCV000865400]|not specified [RCV001816972] Chr4:6292005 [GRCh38]
Chr4:6293732 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.399C>T (p.Ala133=) single nucleotide variant Wolfram syndrome 1 [RCV002509112]|not provided [RCV000927396] Chr4:6289070 [GRCh38]
Chr4:6290797 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2466C>A (p.Leu822=) single nucleotide variant WFS1-related disorder [RCV004538149]|Wolfram syndrome 1 [RCV003147561]|not provided [RCV000836063] Chr4:6302261 [GRCh38]
Chr4:6303988 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1191C>T (p.Phe397=) single nucleotide variant Wolfram syndrome 1 [RCV002509568]|not provided [RCV000842424] Chr4:6300986 [GRCh38]
Chr4:6302713 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.417C>T (p.Arg139=) single nucleotide variant Wolfram syndrome 1 [RCV002509105]|not provided [RCV000842658] Chr4:6289088 [GRCh38]
Chr4:6290815 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.461-166_461-165insCA insertion Wolfram syndrome 1 [RCV002509096]|not provided [RCV000829434] Chr4:6291031..6291032 [GRCh38]
Chr4:6292758..6292759 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.712+195C>G single nucleotide variant Wolfram syndrome 1 [RCV002509097]|not provided [RCV000829449] Chr4:6292192 [GRCh38]
Chr4:6293919 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.712+243G>A single nucleotide variant not provided [RCV000829450] Chr4:6292240 [GRCh38]
Chr4:6293967 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2334C>T (p.Thr778=) single nucleotide variant WFS1-related disorder [RCV004738028]|Wolfram syndrome 1 [RCV003147558]|not provided [RCV002062202]|not specified [RCV000825266] Chr4:6302129 [GRCh38]
Chr4:6303856 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.713-321G>T single nucleotide variant not provided [RCV000832462] Chr4:6294720 [GRCh38]
Chr4:6296447 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) single nucleotide variant WFS1-related disorder [RCV004738111]|Wolfram syndrome 1 [RCV002509116]|not provided [RCV000998213] Chr4:6291265 [GRCh38]
Chr4:6292992 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.712+1G>A single nucleotide variant not provided [RCV000998214] Chr4:6291998 [GRCh38]
Chr4:6293725 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2576G>T (p.Arg859Leu) single nucleotide variant not provided [RCV000998218] Chr4:6302371 [GRCh38]
Chr4:6304098 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1236C>T (p.Val412=) single nucleotide variant Wolfram syndrome 1 [RCV002509558]|not provided [RCV002067410]|not specified [RCV000825265] Chr4:6301031 [GRCh38]
Chr4:6302758 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.862-164C>G single nucleotide variant Wolfram syndrome 1 [RCV002509562]|not provided [RCV000829452] Chr4:6300493 [GRCh38]
Chr4:6302220 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.-264A>G single nucleotide variant Wolfram syndrome 1 [RCV002465802]|not provided [RCV000838623] Chr4:6269756 [GRCh38]
Chr4:6271483 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.-331G>T single nucleotide variant not provided [RCV000844553] Chr4:6269689 [GRCh38]
Chr4:6271416 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.461-281G>C single nucleotide variant Wolfram syndrome 1 [RCV002509106]|not provided [RCV000844554] Chr4:6290916 [GRCh38]
Chr4:6292643 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.631+256T>C single nucleotide variant not provided [RCV000844555] Chr4:6291623 [GRCh38]
Chr4:6293350 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.712+277A>G single nucleotide variant not provided [RCV000844557] Chr4:6292274 [GRCh38]
Chr4:6294001 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-915C>T single nucleotide variant Wolfram syndrome 1 [RCV002509572]|not provided [RCV000844564] Chr4:6294126 [GRCh38]
Chr4:6295853 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-783G>A single nucleotide variant Wolfram syndrome 1 [RCV002509573]|not provided [RCV000844565] Chr4:6294258 [GRCh38]
Chr4:6295985 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.316-37C>T single nucleotide variant not provided [RCV000835317] Chr4:6288950 [GRCh38]
Chr4:6290677 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.396C>T (p.Leu132=) single nucleotide variant Wolfram syndrome 1 [RCV002509094]|not provided [RCV000827603] Chr4:6289067 [GRCh38]
Chr4:6290794 [GRCh37]
Chr4:4p16.1		 benign|likely benign
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_006005.3(WFS1):c.713-993C>T single nucleotide variant Wolfram syndrome 1 [RCV002509564]|not provided [RCV000830651] Chr4:6294048 [GRCh38]
Chr4:6295775 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.396C>G (p.Leu132=) single nucleotide variant not provided [RCV000998212] Chr4:6289067 [GRCh38]
Chr4:6290794 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.713-1018A>G single nucleotide variant Wolfram syndrome 1 [RCV002509560]|not provided [RCV000828674] Chr4:6294023 [GRCh38]
Chr4:6295750 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.176C>T (p.Ala59Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151494]|WFS1-Related Spectrum Disorders [RCV001151493]|Wolfram syndrome 1 [RCV002509118]|Wolfram syndrome 1 [RCV003336307]|not provided [RCV001571953] Chr4:6277631 [GRCh38]
Chr4:6279358 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32		 likely pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
NM_006005.3(WFS1):c.-43G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151390]|WFS1-Related Spectrum Disorders [RCV001151389]|Wolfram syndrome 1 [RCV002465834]|not provided [RCV001882467] Chr4:6269977 [GRCh38]
Chr4:6271704 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.461-208G>C single nucleotide variant Wolfram syndrome 1 [RCV002509095]|not provided [RCV000829432] Chr4:6290989 [GRCh38]
Chr4:6292716 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.461-169_461-168insAGGGGCATG insertion not provided [RCV000829433] Chr4:6291028..6291029 [GRCh38]
Chr4:6292755..6292756 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.632-170A>G single nucleotide variant not provided [RCV000829448] Chr4:6291747 [GRCh38]
Chr4:6293474 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.862-185C>T single nucleotide variant Wolfram syndrome 1 [RCV002509561]|not provided [RCV000829451] Chr4:6300472 [GRCh38]
Chr4:6302199 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-1360G>A single nucleotide variant Wolfram syndrome 1 [RCV002509565]|not provided [RCV000830802] Chr4:6293681 [GRCh38]
Chr4:6295408 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1184T>A (p.Val395Asp) single nucleotide variant Wolfram syndrome 1 [RCV002509559]|not provided [RCV001858397]|not specified [RCV000825500] Chr4:6300979 [GRCh38]
Chr4:6302706 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1185C>G (p.Val395=) single nucleotide variant not specified [RCV000825690] Chr4:6300980 [GRCh38]
Chr4:6302707 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) single nucleotide variant Cataract 41 [RCV002501174]|Wolfram syndrome 1 [RCV003127489]|not provided [RCV000841306] Chr4:6301355 [GRCh38]
Chr4:6303082 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.713-1341C>G single nucleotide variant Wolfram syndrome 1 [RCV002509569]|not provided [RCV000844559] Chr4:6293700 [GRCh38]
Chr4:6295427 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-1317A>G single nucleotide variant not provided [RCV000844560] Chr4:6293724 [GRCh38]
Chr4:6295451 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-1203C>T single nucleotide variant Wolfram syndrome 1 [RCV002509570]|not provided [RCV000844561] Chr4:6293838 [GRCh38]
Chr4:6295565 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-1185C>A single nucleotide variant Wolfram syndrome 1 [RCV002509571]|not provided [RCV000844563] Chr4:6293856 [GRCh38]
Chr4:6295583 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.632-198T>C single nucleotide variant not provided [RCV000829435] Chr4:6291719 [GRCh38]
Chr4:6293446 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.316-164A>G single nucleotide variant Wolfram syndrome 1 [RCV002509098]|not provided [RCV000831850] Chr4:6288823 [GRCh38]
Chr4:6290550 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.631+164G>C single nucleotide variant Wolfram syndrome 1 [RCV002509099]|not provided [RCV000831851] Chr4:6291531 [GRCh38]
Chr4:6293258 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-231G>A single nucleotide variant Wolfram syndrome 1 [RCV002509567]|not provided [RCV000839247] Chr4:6294810 [GRCh38]
Chr4:6296537 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.632-5T>C single nucleotide variant Wolfram syndrome 1 [RCV002509104]|not provided [RCV000842422] Chr4:6291912 [GRCh38]
Chr4:6293639 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3:c.713-1075C>G single nucleotide variant not provided [RCV000830171] Chr4:6295693 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-1219C>T single nucleotide variant Wolfram syndrome 1 [RCV002509100]|not provided [RCV000832680] Chr4:6293822 [GRCh38]
Chr4:6295549 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.713-945A>G single nucleotide variant Wolfram syndrome 1 [RCV002509566]|not provided [RCV000832681] Chr4:6294096 [GRCh38]
Chr4:6295823 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.*80C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153772]|WFS1-Related Spectrum Disorders [RCV001152504]|Wolfram syndrome 1 [RCV003128313] Chr4:6302548 [GRCh38]
Chr4:6304275 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1871T>G (p.Val624Gly) single nucleotide variant not provided [RCV000998216] Chr4:6301666 [GRCh38]
Chr4:6303393 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.2-16.1(chr4:5537684-6624559)x1 copy number loss not provided [RCV000847759] Chr4:5537684..6624559 [GRCh37]
Chr4:4p16.2-16.1		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.1514G>A (p.Cys505Tyr) single nucleotide variant Diabetes mellitus [RCV001175317] Chr4:6301309 [GRCh38]
Chr4:6303036 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.61C>G (p.Pro21Ala) single nucleotide variant Wolfram syndrome 1 [RCV002509123]|not specified [RCV001195276] Chr4:6277516 [GRCh38]
Chr4:6279243 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) duplication Wolfram syndrome 1 [RCV000995912] Chr4:6302018..6302019 [GRCh38]
Chr4:6303745..6303746 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) deletion Wolfram syndrome 1 [RCV000995913]|not provided [RCV002550684] Chr4:6302429..6302434 [GRCh38]
Chr4:6304156..6304161 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.*14C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157958]|WFS1-Related Spectrum Disorders [RCV001157959]|Wolfram syndrome 1 [RCV003128315]|not provided [RCV004720075] Chr4:6302482 [GRCh38]
Chr4:6304209 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2001G>A (p.Gln667=) single nucleotide variant Wolfram syndrome 1 [RCV003126401] Chr4:6301796 [GRCh38]
Chr4:6303523 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1947C>G (p.Phe649Leu) single nucleotide variant Wolfram syndrome 1 [RCV003128225] Chr4:6301742 [GRCh38]
Chr4:6303469 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1836G>C (p.Trp612Cys) single nucleotide variant Wolfram syndrome 1 [RCV003127193] Chr4:6301631 [GRCh38]
Chr4:6303358 [GRCh37]
Chr4:4p16.1		 uncertain risk allele
NM_006005.3(WFS1):c.591G>A (p.Val197=) single nucleotide variant not provided [RCV003104885] Chr4:6291327 [GRCh38]
Chr4:6293054 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter) single nucleotide variant Wolfram syndrome 1 [RCV003126290] Chr4:6301157 [GRCh38]
Chr4:6302884 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.*553G>C single nucleotide variant Wolfram syndrome 1 [RCV003127185] Chr4:6303021 [GRCh38]
Chr4:6304748 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2061G>T (p.Gln687His) single nucleotide variant Wolfram syndrome 1 [RCV003127196] Chr4:6301856 [GRCh38]
Chr4:6303583 [GRCh37]
Chr4:4p16.1		 likely risk allele
NM_006005.3(WFS1):c.211C>T (p.Arg71Trp) single nucleotide variant Inborn genetic diseases [RCV003161108]|not provided [RCV001568256] Chr4:6277666 [GRCh38]
Chr4:6279393 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.712T>C (p.Ser238Pro) single nucleotide variant not provided [RCV001550129] Chr4:6291997 [GRCh38]
Chr4:6293724 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-5-134T>C single nucleotide variant not provided [RCV001565620] Chr4:6277317 [GRCh38]
Chr4:6279044 [GRCh37]
Chr4:4p16.1		 likely benign
NC_000004.11:g.(?_4861627)_(6304195_?)del deletion Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003107680] Chr4:4861627..6304195 [GRCh37]
Chr4:4p16.2-16.1		 pathogenic
NM_006005.3(WFS1):c.2141A>G (p.Asn714Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss [RCV004810731] Chr4:6301936 [GRCh38]
Chr4:6303663 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly) single nucleotide variant Cataract 41 [RCV002501894]|not provided [RCV001554902] Chr4:6302176 [GRCh38]
Chr4:6303903 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.862-303C>T single nucleotide variant not provided [RCV001554987] Chr4:6300354 [GRCh38]
Chr4:6302081 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr) single nucleotide variant Cataract 41 [RCV002495887]|Inborn genetic diseases [RCV004968210]|not provided [RCV001556041] Chr4:6301059 [GRCh38]
Chr4:6302786 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*7del deletion not provided [RCV001556836] Chr4:6302475 [GRCh38]
Chr4:6304202 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1187A>G (p.Asn396Ser) single nucleotide variant not provided [RCV001699876] Chr4:6300982 [GRCh38]
Chr4:6302709 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) single nucleotide variant Cataract 41 [RCV002488381]|Inborn genetic diseases [RCV002573175]|not provided [RCV001562495] Chr4:6302046 [GRCh38]
Chr4:6303773 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.712+78T>C single nucleotide variant not provided [RCV001685570] Chr4:6292075 [GRCh38]
Chr4:6293802 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.461-125A>C single nucleotide variant not provided [RCV001718036] Chr4:6291072 [GRCh38]
Chr4:6292799 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.229_230delinsCA (p.Thr77His) indel not provided [RCV002280048] Chr4:6277684..6277685 [GRCh38]
Chr4:6279411..6279412 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.712+182G>A single nucleotide variant not provided [RCV001707983] Chr4:6292179 [GRCh38]
Chr4:6293906 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.861+137_861+138insGGG insertion not provided [RCV001614240] Chr4:6295326..6295327 [GRCh38]
Chr4:6297053..6297054 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.861+266C>T single nucleotide variant not provided [RCV001557905] Chr4:6295455 [GRCh38]
Chr4:6297182 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1072G>C (p.Val358Leu) single nucleotide variant Cataract 41 [RCV005023191]|not provided [RCV001558648]|not specified [RCV005057510] Chr4:6300867 [GRCh38]
Chr4:6302594 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.862-118G>A single nucleotide variant not provided [RCV001643822] Chr4:6300539 [GRCh38]
Chr4:6302266 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.-5-205G>C single nucleotide variant not provided [RCV001674822] Chr4:6277246 [GRCh38]
Chr4:6278973 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) single nucleotide variant Cataract 41 [RCV002477889]|not provided [RCV001701221] Chr4:6289014 [GRCh38]
Chr4:6290741 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2298C>T (p.His766=) single nucleotide variant Wolfram syndrome 1 [RCV003128195]|not provided [RCV000930388]|not specified [RCV004768745] Chr4:6302093 [GRCh38]
Chr4:6303820 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.*553G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001158182]|WFS1-Related Spectrum Disorders [RCV001158183] Chr4:6303021 [GRCh38]
Chr4:6304748 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*300A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153881]|WFS1-Related Spectrum Disorders [RCV001153880]|Wolfram syndrome 1 [RCV003127658] Chr4:6302768 [GRCh38]
Chr4:6304495 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.861+2T>C single nucleotide variant Wolfram syndrome 1 [RCV004527413]|not provided [RCV001092545] Chr4:6295191 [GRCh38]
Chr4:6296918 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) single nucleotide variant Cataract 41 [RCV002497609]|Diabetes mellitus [RCV001175321]|WFS1-related disorder [RCV004738178]|not provided [RCV001875777] Chr4:6295145 [GRCh38]
Chr4:6296872 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2051C>G (p.Ala684Gly) single nucleotide variant Type 2 diabetes mellitus [RCV001196420]|not provided [RCV001863106] Chr4:6301846 [GRCh38]
Chr4:6303573 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.861+204G>A single nucleotide variant not provided [RCV001640893] Chr4:6295393 [GRCh38]
Chr4:6297120 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2148C>T (p.Ala716=) single nucleotide variant not provided [RCV001566741] Chr4:6301943 [GRCh38]
Chr4:6303670 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.950C>G (p.Thr317Ser) single nucleotide variant WFS1-related disorder [RCV004534106]|not provided [RCV002467302] Chr4:6300745 [GRCh38]
Chr4:6302472 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-100C>T single nucleotide variant Wolfram syndrome 1 [RCV002465961] Chr4:6269920 [GRCh38]
Chr4:6271647 [GRCh37]
Chr4:4p16.1		 benign
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_006005.3(WFS1):c.461-169_461-168insAGGGGCGTGGC insertion not provided [RCV001540661] Chr4:6291019..6291020 [GRCh38]
Chr4:6292746..6292747 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.709G>A (p.Glu237Lys) single nucleotide variant Cataract 41 [RCV005038280]|not provided [RCV001700803] Chr4:6291994 [GRCh38]
Chr4:6293721 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2422A>G (p.Ser808Gly) single nucleotide variant not provided [RCV001592533] Chr4:6302217 [GRCh38]
Chr4:6303944 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.712+131C>T single nucleotide variant not provided [RCV001595983] Chr4:6292128 [GRCh38]
Chr4:6293855 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2197T>G (p.Cys733Gly) single nucleotide variant Wolfram syndrome 1 [RCV001667857] Chr4:6301992 [GRCh38]
Chr4:6303719 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.713-79C>A single nucleotide variant not provided [RCV001552867] Chr4:6294962 [GRCh38]
Chr4:6296689 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.772G>A (p.Val258Ile) single nucleotide variant Wolfram syndrome 1 [RCV002509110]|not provided [RCV000908039] Chr4:6295100 [GRCh38]
Chr4:6296827 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1824G>A (p.Leu608=) single nucleotide variant Wolfram syndrome 1 [RCV003127544]|not provided [RCV000908586] Chr4:6301619 [GRCh38]
Chr4:6303346 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1633G>C (p.Val545Leu) single nucleotide variant not provided [RCV001766209] Chr4:6301428 [GRCh38]
Chr4:6303155 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1695C>G (p.Leu565=) single nucleotide variant not provided [RCV000959425] Chr4:6301490 [GRCh38]
Chr4:6303217 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155664]|WFS1-Related Spectrum Disorders [RCV001155665]|Wolfram syndrome 1 [RCV002509582]|not provided [RCV000939866] Chr4:6301058 [GRCh38]
Chr4:6302785 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1695C>T (p.Leu565=) single nucleotide variant Wolfram syndrome 1 [RCV003127555]|not provided [RCV000951873] Chr4:6301490 [GRCh38]
Chr4:6303217 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) single nucleotide variant Cataract 41 [RCV002505291]|Wolfram syndrome 1 [RCV003148892]|not provided [RCV000895193] Chr4:6302183 [GRCh38]
Chr4:6303910 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.504C>T (p.Ser168=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001154625]|WFS1-Related Spectrum Disorders [RCV001154626]|Wolfram syndrome 1 [RCV002509119]|not provided [RCV001502896] Chr4:6291240 [GRCh38]
Chr4:6292967 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157677]|WFS1-Related Spectrum Disorders [RCV001152195]|Wolfram syndrome 1 [RCV003128197]|not provided [RCV002032402] Chr4:6301924 [GRCh38]
Chr4:6303651 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*223C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001158066]|WFS1-Related Spectrum Disorders [RCV001156398]|Wolfram syndrome 1 [RCV003127667] Chr4:6302691 [GRCh38]
Chr4:6304418 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.445T>C (p.Leu149=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157026]|WFS1-Related Spectrum Disorders [RCV001157027]|Wolfram syndrome 1 [RCV002509120] Chr4:6289116 [GRCh38]
Chr4:6290843 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2082G>C (p.Glu694Asp) single nucleotide variant Cataract 41 [RCV005036438]|Diabetes mellitus [RCV001175323]|Wolfram syndrome 1 [RCV003127672]|not provided [RCV001875778] Chr4:6301877 [GRCh38]
Chr4:6303604 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) single nucleotide variant Cataract 41 [RCV002479183]|WFS1-related disorder [RCV004738112]|Wolfram syndrome 1 [RCV002509587]|not provided [RCV000998215] Chr4:6295055 [GRCh38]
Chr4:6296782 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2041A>G (p.Thr681Ala) single nucleotide variant Wolfram syndrome 1 [RCV003127577]|not provided [RCV000998217] Chr4:6301836 [GRCh38]
Chr4:6303563 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) single nucleotide variant Cataract 41 [RCV002495392]|Wolfram syndrome 1 [RCV003127541]|not provided [RCV000891050] Chr4:6301550 [GRCh38]
Chr4:6303277 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1445A>G (p.Lys482Arg) single nucleotide variant Retinal dystrophy [RCV004815830] Chr4:6301240 [GRCh38]
Chr4:6302967 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.862-332A>T single nucleotide variant not provided [RCV001659513] Chr4:6300325 [GRCh38]
Chr4:6302052 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1540C>T (p.Leu514Phe) single nucleotide variant Optic atrophy [RCV004815573]|Wolfram syndrome 1 [RCV004785285]|not provided [RCV001577373] Chr4:6301335 [GRCh38]
Chr4:6303062 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.862-224G>C single nucleotide variant not provided [RCV001577427] Chr4:6300433 [GRCh38]
Chr4:6302160 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.68C>T (p.Ala23Val) single nucleotide variant not provided [RCV001557176] Chr4:6277523 [GRCh38]
Chr4:6279250 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1620G>T (p.Trp540Cys) single nucleotide variant Wolfram syndrome 1 [RCV002468534] Chr4:6301415 [GRCh38]
Chr4:6303142 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.315+29C>T single nucleotide variant not provided [RCV001562615] Chr4:6287204 [GRCh38]
Chr4:6288931 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV002466872] Chr4:6301431 [GRCh38]
Chr4:6303158 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys) single nucleotide variant Cataract 41 [RCV002488403]|WFS1-related disorder [RCV004738349]|not provided [RCV001575905] Chr4:6302397 [GRCh38]
Chr4:6304124 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1525G>A (p.Val509Ile) single nucleotide variant not provided [RCV001564250] Chr4:6301320 [GRCh38]
Chr4:6303047 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.514C>T (p.Leu172=) single nucleotide variant Cataract 41 [RCV002495911]|not provided [RCV001571797] Chr4:6291250 [GRCh38]
Chr4:6292977 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.232+140C>T single nucleotide variant not provided [RCV001576271] Chr4:6277827 [GRCh38]
Chr4:6279554 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.315+236A>T single nucleotide variant not provided [RCV001561586] Chr4:6287411 [GRCh38]
Chr4:6289138 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.962C>T (p.Thr321Met) single nucleotide variant not provided [RCV001567031] Chr4:6300757 [GRCh38]
Chr4:6302484 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2047A>G (p.Met683Val) single nucleotide variant not provided [RCV002467240] Chr4:6301842 [GRCh38]
Chr4:6303569 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.289G>T (p.Ala97Ser) single nucleotide variant Inborn genetic diseases [RCV004965878]|not provided [RCV002469891] Chr4:6287149 [GRCh38]
Chr4:6288876 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2260C>T (p.Leu754Phe) single nucleotide variant Cataract 41 [RCV005038719]|Optic atrophy [RCV004817546]|not provided [RCV004820322] Chr4:6302055 [GRCh38]
Chr4:6303782 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.316-225G>A single nucleotide variant not provided [RCV001675162] Chr4:6288762 [GRCh38]
Chr4:6290489 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.232+225C>A single nucleotide variant not provided [RCV001716952] Chr4:6277912 [GRCh38]
Chr4:6279639 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.632-94G>A single nucleotide variant not provided [RCV001720830] Chr4:6291823 [GRCh38]
Chr4:6293550 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.-6+32_-6+49dup duplication not provided [RCV001618749] Chr4:6270040..6270041 [GRCh38]
Chr4:6271767..6271768 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) single nucleotide variant Cataract 41 [RCV002477860]|not provided [RCV001592475] Chr4:6301744 [GRCh38]
Chr4:6303471 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1289C>G (p.Ser430Trp) single nucleotide variant not provided [RCV001723317] Chr4:6301084 [GRCh38]
Chr4:6302811 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) single nucleotide variant Cataract 41 [RCV002477901]|not provided [RCV001723374] Chr4:6301903 [GRCh38]
Chr4:6303630 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1549del (p.Arg517fs) deletion Cataract 41 [RCV005023201]|not provided [RCV001572293] Chr4:6301343 [GRCh38]
Chr4:6303070 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2621C>A (p.Ala874Asp) single nucleotide variant not provided [RCV001589689] Chr4:6302416 [GRCh38]
Chr4:6304143 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-6+14C>A single nucleotide variant not provided [RCV001621645] Chr4:6270028 [GRCh38]
Chr4:6271755 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.804C>T (p.Asp268=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157142]|WFS1-Related Spectrum Disorders [RCV001157141]|Wolfram syndrome 1 [RCV002509122]|not provided [RCV001759913] Chr4:6295132 [GRCh38]
Chr4:6296859 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.837T>C (p.Pro279=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157144]|WFS1-Related Spectrum Disorders [RCV001157143] Chr4:6295165 [GRCh38]
Chr4:6296892 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157460]|Cataract 41 [RCV005029732]|Inborn genetic diseases [RCV004032829]|WFS1-Related Spectrum Disorders [RCV001157461]|WFS1-related disorder [RCV004528398]|Wolfram syndrome 1 [RCV003127668]|not provided [RCV002070938] Chr4:6301375 [GRCh38]
Chr4:6303102 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.*11C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157956]|WFS1-Related Spectrum Disorders [RCV001157957]|Wolfram syndrome 1 [RCV003128378] Chr4:6302479 [GRCh38]
Chr4:6304206 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.*37C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157960]|WFS1-Related Spectrum Disorders [RCV001157961]|Wolfram syndrome 1 [RCV003128379] Chr4:6302505 [GRCh38]
Chr4:6304232 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.*448A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153884]|WFS1-Related Spectrum Disorders [RCV001154727]|Wolfram syndrome 1 [RCV003127660] Chr4:6302916 [GRCh38]
Chr4:6304643 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.961A>C (p.Thr321Pro) single nucleotide variant Diabetes mellitus [RCV001175318]|not provided [RCV001875776] Chr4:6300756 [GRCh38]
Chr4:6302483 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2356G>T (p.Gly786Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153585]|WFS1-Related Spectrum Disorders [RCV001153584] Chr4:6302151 [GRCh38]
Chr4:6303878 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1425C>T (p.Pro475=) single nucleotide variant WFS1-related disorder [RCV004545101]|Wolfram syndrome 1 [RCV003127671]|not provided [RCV001171736] Chr4:6301220 [GRCh38]
Chr4:6302947 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1135G>T (p.Asp379Tyr) single nucleotide variant Monogenic diabetes [RCV001174419] Chr4:6300930 [GRCh38]
Chr4:6302657 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.672G>A (p.Gln224=) single nucleotide variant not provided [RCV001588257] Chr4:6291957 [GRCh38]
Chr4:6293684 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer) deletion Diabetes mellitus [RCV001172534]|Wolfram syndrome 1 [RCV002274141]|not provided [RCV001873597] Chr4:6301157..6301172 [GRCh38]
Chr4:6302884..6302899 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.712+47C>T single nucleotide variant not provided [RCV001585108] Chr4:6292044 [GRCh38]
Chr4:6293771 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.510C>T (p.Thr170=) single nucleotide variant Cataract 41 [RCV002501986]|WFS1-related disorder [RCV004536238]|not provided [RCV001651530] Chr4:6291246 [GRCh38]
Chr4:6292973 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2385_2390delinsCGACGT (p.Glu795_Asp797delinsAspAspVal) indel not provided [RCV001586267] Chr4:6302180..6302185 [GRCh38]
Chr4:6303907..6303912 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.558G>C (p.Lys186Asn) single nucleotide variant not provided [RCV001537423] Chr4:6291294 [GRCh38]
Chr4:6293021 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006005.3(WFS1):c.2225G>A (p.Cys742Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001156082]|WFS1-Related Spectrum Disorders [RCV001156081]|Wolfram syndrome 1 [RCV003127664]|not provided [RCV002559500] Chr4:6302020 [GRCh38]
Chr4:6303747 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) single nucleotide variant Cataract 41 [RCV002491598]|Optic atrophy [RCV004813849]|Type 2 diabetes mellitus [RCV001198917] Chr4:6302398 [GRCh38]
Chr4:6304125 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-148G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155156]|WFS1-Related Spectrum Disorders [RCV001155155]|Wolfram syndrome 1 [RCV002465835] Chr4:6269872 [GRCh38]
Chr4:6271599 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1713del (p.Ile572fs) deletion Autosomal dominant nonsyndromic deafness 6 [RCV001333472] Chr4:6301505 [GRCh38]
Chr4:6303232 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter) single nucleotide variant Inborn genetic diseases [RCV004040016]|Wolfram syndrome 1 [RCV001730050] Chr4:6302458 [GRCh38]
Chr4:6304185 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.1401_1403del (p.Leu468del) deletion not provided [RCV001383030] Chr4:6301194..6301196 [GRCh38]
Chr4:6302921..6302923 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) single nucleotide variant Cataract 41 [RCV002486188]|Wolfram syndrome 1 [RCV003128200]|not provided [RCV001305498] Chr4:6302043 [GRCh38]
Chr4:6303770 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.382G>T (p.Asp128Tyr) single nucleotide variant Wolfram syndrome 1 [RCV002509125]|not provided [RCV001345240] Chr4:6289053 [GRCh38]
Chr4:6290780 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1817T>G (p.Val606Gly) single nucleotide variant Cataract 41 [RCV005040144]|WFS1-related disorder [RCV004531083]|Wolfram syndrome 1 [RCV003127770]|not provided [RCV001300722] Chr4:6301612 [GRCh38]
Chr4:6303339 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2484C>G (p.Ile828Met) single nucleotide variant Cataract 41 [RCV005038035]|not provided [RCV001297451] Chr4:6302279 [GRCh38]
Chr4:6304006 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2140A>G (p.Asn714Asp) single nucleotide variant not provided [RCV001365841] Chr4:6301935 [GRCh38]
Chr4:6303662 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1878C>T (p.Ser626=) single nucleotide variant not provided [RCV001426008] Chr4:6301673 [GRCh38]
Chr4:6303400 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.460+145C>G single nucleotide variant not provided [RCV001614941] Chr4:6289276 [GRCh38]
Chr4:6289276..6289277 [GRCh38]
Chr4:6291003 [GRCh37]
Chr4:6291003..6291004 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg) single nucleotide variant Cataract 41 [RCV005038242]|Inborn genetic diseases [RCV003346586]|not provided [RCV001504964] Chr4:6302227 [GRCh38]
Chr4:6303954 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.9dup (p.Asn4fs) duplication Cataract 41 [RCV005023150]|not provided [RCV001389688] Chr4:6277462..6277463 [GRCh38]
Chr4:6279189..6279190 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.940T>C (p.Trp314Arg) single nucleotide variant not provided [RCV001727284] Chr4:6300735 [GRCh38]
Chr4:6302462 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) microsatellite Cataract 41 [RCV002503178]|not provided [RCV001727285] Chr4:6301336..6301338 [GRCh38]
Chr4:6303063..6303065 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2059C>T (p.Gln687Ter) single nucleotide variant not provided [RCV001727286] Chr4:6301854 [GRCh38]
Chr4:6303581 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.233-18G>T single nucleotide variant not provided [RCV003108358] Chr4:6287075 [GRCh38]
Chr4:6288802 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.876C>G (p.Pro292=) single nucleotide variant Cataract 41 [RCV002496051]|not provided [RCV001727283] Chr4:6300671 [GRCh38]
Chr4:6302398 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1583A>G (p.Tyr528Cys) single nucleotide variant not provided [RCV001767986] Chr4:6301378 [GRCh38]
Chr4:6303105 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1910T>C (p.Leu637Pro) single nucleotide variant not provided [RCV001753390] Chr4:6301705 [GRCh38]
Chr4:6303432 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.718A>T (p.Asn240Tyr) single nucleotide variant not provided [RCV001755635] Chr4:6295046 [GRCh38]
Chr4:6296773 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1014C>G (p.Ile338Met) single nucleotide variant Wolfram syndrome 1 [RCV002509696]|not provided [RCV001755380] Chr4:6300809 [GRCh38]
Chr4:6302536 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.61C>A (p.Pro21Thr) single nucleotide variant not provided [RCV001757322] Chr4:6277516 [GRCh38]
Chr4:6279243 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2035A>C (p.Lys679Gln) single nucleotide variant Inborn genetic diseases [RCV004047551]|not provided [RCV002280552] Chr4:6301830 [GRCh38]
Chr4:6303557 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) single nucleotide variant Cataract 41 [RCV002503241]|Inborn genetic diseases [RCV003346690]|not provided [RCV001774828] Chr4:6291359 [GRCh38]
Chr4:6293086 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1726G>T (p.Gly576Cys) single nucleotide variant not provided [RCV001776837] Chr4:6301521 [GRCh38]
Chr4:6303248 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2333C>T (p.Thr778Ile) single nucleotide variant not provided [RCV001777064] Chr4:6302128 [GRCh38]
Chr4:6303855 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1965G>T (p.Glu655Asp) single nucleotide variant not provided [RCV001757476] Chr4:6301760 [GRCh38]
Chr4:6303487 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) single nucleotide variant Inborn genetic diseases [RCV002541286]|Type 2 diabetes mellitus [RCV004762182]|WFS1-related disorder [RCV004738386]|Wolfram-like syndrome [RCV002291002]|not provided [RCV001795517] Chr4:6301554 [GRCh38]
Chr4:6303281 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn) single nucleotide variant Cataract 41 [RCV002503250]|Wolfram-like syndrome [RCV004564024]|not provided [RCV001752911] Chr4:6300871 [GRCh38]
Chr4:6302598 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) single nucleotide variant Wolfram syndrome 1 [RCV003321872]|not provided [RCV001797328] Chr4:6302001 [GRCh38]
Chr4:6303728 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) single nucleotide variant Cataract 41 [RCV002476898]|WFS1-related disorder [RCV004536218]|not provided [RCV001593670] Chr4:6301287 [GRCh38]
Chr4:6303014 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.713-147G>A single nucleotide variant not provided [RCV001589940] Chr4:6294894 [GRCh38]
Chr4:6296621 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.861+101G>A single nucleotide variant not provided [RCV001719167] Chr4:6295290 [GRCh38]
Chr4:6297017 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1744G>A (p.Val582Met) single nucleotide variant Cataract 41 [RCV002495945]|not provided [RCV001586687] Chr4:6301539 [GRCh38]
Chr4:6303266 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-6+85T>C single nucleotide variant not provided [RCV001718034] Chr4:6270099 [GRCh38]
Chr4:6271826 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.862-156G>A single nucleotide variant not provided [RCV001594267] Chr4:6300501 [GRCh38]
Chr4:6302228 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.951C>T (p.Thr317=) single nucleotide variant not provided [RCV001593484] Chr4:6300746 [GRCh38]
Chr4:6302473 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.316-120T>C single nucleotide variant not provided [RCV001718035] Chr4:6288867 [GRCh38]
Chr4:6290594 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2015T>C (p.Leu672Pro) single nucleotide variant Diabetes mellitus [RCV001175326] Chr4:6301810 [GRCh38]
Chr4:6303537 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1509C>T (p.Val503=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155753]|WFS1-Related Spectrum Disorders [RCV001157456]|Wolfram syndrome 1 [RCV003127663] Chr4:6301304 [GRCh38]
Chr4:6303031 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.*158G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001156397]|WFS1-Related Spectrum Disorders [RCV001156396]|Wolfram syndrome 1 [RCV003127666] Chr4:6302626 [GRCh38]
Chr4:6304353 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.695G>A (p.Arg232His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157137]|WFS1-Related Spectrum Disorders [RCV001157138]|Wolfram syndrome 1 [RCV002509121]|not provided [RCV002032453] Chr4:6291980 [GRCh38]
Chr4:6293707 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001157549]|Cataract 41 [RCV002491456]|WFS1-Related Spectrum Disorders [RCV001157550]|not provided [RCV001570232] Chr4:6301626 [GRCh38]
Chr4:6303353 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*263T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001152599]|WFS1-Related Spectrum Disorders [RCV001152600]|Wolfram syndrome 1 [RCV003127654] Chr4:6302731 [GRCh38]
Chr4:6304458 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.955A>T (p.Ile319Phe) single nucleotide variant Cataract 41 [RCV005036398]|Wolfram syndrome 1 [RCV002509117]|not provided [RCV001092546] Chr4:6300750 [GRCh38]
Chr4:6302477 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.*656C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153981]|WFS1-Related Spectrum Disorders [RCV001153982]|Wolfram syndrome 1 [RCV003127661] Chr4:6303124 [GRCh38]
Chr4:6304851 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153360]|WFS1-Related Spectrum Disorders [RCV001153359]|Wolfram syndrome 1 [RCV003127657]|not provided [RCV001560362] Chr4:6301806 [GRCh38]
Chr4:6303533 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs) deletion Cataract 41 [RCV003142122]|Wolfram syndrome 1 [RCV001195288]|not provided [RCV002561030] Chr4:6301743..6301744 [GRCh38]
Chr4:6303470..6303471 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001156084]|Cataract 41 [RCV002491451]|WFS1-Related Spectrum Disorders [RCV001156083]|Wolfram syndrome 1 [RCV003127665]|not provided [RCV002558354] Chr4:6302041 [GRCh38]
Chr4:6303768 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001156286]|Cataract 41 [RCV002483899]|WFS1-Related Spectrum Disorders [RCV001156287]|Wolfram syndrome 1 [RCV003128314]|not provided [RCV002032442] Chr4:6302459 [GRCh38]
Chr4:6304186 [GRCh37]
Chr4:4p16.1		 benign|likely benign|uncertain significance
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151791]|Cataract 41 [RCV002483888]|WFS1-Related Spectrum Disorders [RCV001151792]|not provided [RCV001759907] Chr4:6300942 [GRCh38]
Chr4:6302669 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) single nucleotide variant Cataract 41 [RCV002496000]|Wolfram syndrome 1 [RCV001667855]|not provided [RCV005094881] Chr4:6289058 [GRCh38]
Chr4:6290785 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter) single nucleotide variant Wolfram syndrome 1 [RCV001667856] Chr4:6301756 [GRCh38]
Chr4:6303483 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1656C>G (p.Thr552=) single nucleotide variant not provided [RCV001532504] Chr4:6301451 [GRCh38]
Chr4:6303178 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1523A>G (p.Tyr508Cys) single nucleotide variant Wolfram syndrome 1 [RCV001647213]|not provided [RCV001859246] Chr4:6301318 [GRCh38]
Chr4:6303045 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.713-1206C>T single nucleotide variant not provided [RCV001585366] Chr4:6293835 [GRCh38]
Chr4:6295562 [GRCh37]
Chr4:4p16.1		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_006005.3(WFS1):c.461-106C>G single nucleotide variant not provided [RCV001610201] Chr4:6291091 [GRCh38]
Chr4:6292818 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.461-173_461-172insGCAGGGGCA insertion not provided [RCV001546560] Chr4:6291024..6291025 [GRCh38]
Chr4:6292751..6292752 [GRCh37]
Chr4:4p16.1		 likely benign
NC_000004.12:g.6269836_6269841dup duplication not provided [RCV001643808] Chr4:6269830..6269831 [GRCh38]
Chr4:6271557..6271558 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.712+114A>G single nucleotide variant not provided [RCV001615768] Chr4:6292111 [GRCh38]
Chr4:6293838 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.*69C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001152502]|WFS1-Related Spectrum Disorders [RCV001152503]|Wolfram syndrome 1 [RCV003128312]|not provided [RCV004716684] Chr4:6302537 [GRCh38]
Chr4:6304264 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.-93G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151387]|WFS1-Related Spectrum Disorders [RCV001151388]|Wolfram syndrome 1 [RCV002465833] Chr4:6269927 [GRCh38]
Chr4:6271654 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153040]|Cataract 41 [RCV002480552]|WFS1-Related Spectrum Disorders [RCV001153041]|not provided [RCV001348921] Chr4:6300975 [GRCh38]
Chr4:6302702 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*358T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153882]|WFS1-Related Spectrum Disorders [RCV001153883]|Wolfram syndrome 1 [RCV003127659]|not provided [RCV004716690] Chr4:6302826 [GRCh38]
Chr4:6304553 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.*455A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001154728]|WFS1-Related Spectrum Disorders [RCV001154729]|Wolfram syndrome 1 [RCV003127662] Chr4:6302923 [GRCh38]
Chr4:6304650 [GRCh37]
Chr4:4p16.1		 benign|uncertain significance
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu) single nucleotide variant Cataract 41 [RCV005040005]|Wolfram syndrome 1 [RCV003128198]|not provided [RCV001863085]|not specified [RCV001195275] Chr4:6302094 [GRCh38]
Chr4:6303821 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1837T>G (p.Trp613Gly) single nucleotide variant WFS1-related disorder [RCV004545118]|Wolfram syndrome 1 [RCV003127679]|not provided [RCV004590213]|not specified [RCV001195274] Chr4:6301632 [GRCh38]
Chr4:6303359 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) single nucleotide variant Wolfram syndrome 1 [RCV001195287] Chr4:6301415 [GRCh38]
Chr4:6303142 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.81C>T (p.Leu27=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155254]|Cataract 41 [RCV002505732]|WFS1-Related Spectrum Disorders [RCV001155253] Chr4:6277536 [GRCh38]
Chr4:6279263 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153248]|Cataract 41 [RCV002491447]|Inborn genetic diseases [RCV003284000]|WFS1-Related Spectrum Disorders [RCV001153249]|Wolfram syndrome 1 [RCV003127655]|not provided [RCV002557298] Chr4:6301534 [GRCh38]
Chr4:6303261 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.968A>G (p.His323Arg) single nucleotide variant Optic atrophy [RCV004813751]|not provided [RCV001092547] Chr4:6300763 [GRCh38]
Chr4:6302490 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.2030C>T (p.Ala677Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001155967]|WFS1-Related Spectrum Disorders [RCV001155966] Chr4:6301825 [GRCh38]
Chr4:6303552 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.232G>A (p.Gly78Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001151500]|WFS1-Related Spectrum Disorders [RCV001151499]|Wolfram syndrome 1 [RCV003127651]|not provided [RCV001882469]|not specified [RCV004587052] Chr4:6277687 [GRCh38]
Chr4:6279414 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001152927]|WFS1-Related Spectrum Disorders [RCV001152928]|Wolfram syndrome 1 [RCV002509618] Chr4:6300667 [GRCh38]
Chr4:6302394 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1986C>T (p.Ser662=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001153355]|WFS1-Related Spectrum Disorders [RCV001153356]|Wolfram syndrome 1 [RCV003127656] Chr4:6301781 [GRCh38]
Chr4:6303508 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2405T>C (p.Ile802Thr) single nucleotide variant Wolfram syndrome 1 [RCV003148959]|Wolfram-like syndrome [RCV001253644] Chr4:6302200 [GRCh38]
Chr4:6303927 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.468G>T (p.Thr156=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001253964]|WFS1-Related Spectrum Disorders [RCV001253984]|not provided [RCV001538217] Chr4:6291204 [GRCh38]
Chr4:6292931 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) copy number loss microdeletion 4p16.3p16.1 [RCV001255691] Chr4:2909440..6871516 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
NC_000004.11:g.(6293725_6296767)_(6304993_?)dup duplication not specified [RCV004783578] Chr4:6296767..6304993 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.972C>G (p.Ile324Met) single nucleotide variant not provided [RCV001907654] Chr4:6300767 [GRCh38]
Chr4:6302494 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2293del (p.Cys765fs) deletion Cataract 41 [RCV001536100] Chr4:6302088 [GRCh38]
Chr4:6303815 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) single nucleotide variant Cataract 41 [RCV002507664]|Wolfram syndrome 1 [RCV003128202]|not provided [RCV001982615] Chr4:6301725 [GRCh38]
Chr4:6303452 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.862-3C>G single nucleotide variant Cataract 41 [RCV002488365]|not provided [RCV001546108] Chr4:6300654 [GRCh38]
Chr4:6302381 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1171G>A (p.Glu391Lys) single nucleotide variant Cataract 41 [RCV005032224]|not provided [RCV002284950] Chr4:6300966 [GRCh38]
Chr4:6302693 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.320G>A (p.Gly107Glu) single nucleotide variant Wolfram syndrome 1 [RCV001262572] Chr4:6288991 [GRCh38]
Chr4:6290718 [GRCh37]
Chr4:4p16.1		 likely pathogenic
GRCh37/hg19 4p16.2-16.1(chr4:4896232-6366623)x1 copy number loss not provided [RCV001258629] Chr4:4896232..6366623 [GRCh37]
Chr4:4p16.2-16.1		 uncertain significance
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001329515]|Cataract 41 [RCV002486328]|not provided [RCV001562691] Chr4:6302166 [GRCh38]
Chr4:6303893 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1623T>G (p.Cys541Trp) single nucleotide variant Inborn genetic diseases [RCV003284244]|Wolfram syndrome 1 [RCV003127829]|not provided [RCV001350530] Chr4:6301418 [GRCh38]
Chr4:6303145 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1966G>A (p.Gly656Ser) single nucleotide variant not provided [RCV001312790] Chr4:6301761 [GRCh38]
Chr4:6303488 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1347C>T (p.Thr449=) single nucleotide variant not provided [RCV001415185] Chr4:6301142 [GRCh38]
Chr4:6302869 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.624C>T (p.Asn208=) single nucleotide variant not provided [RCV001396740] Chr4:6291360 [GRCh38]
Chr4:6293087 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2477G>A (p.Ser826Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001352903]|Wolfram syndrome 1 [RCV003147621] Chr4:6302272 [GRCh38]
Chr4:6303999 [GRCh37]
Chr4:4p16.1		 pathogenic|likely risk allele
NM_006005.3(WFS1):c.996_997delinsAA (p.Val333Ile) indel not provided [RCV001414831] Chr4:6300791..6300792 [GRCh38]
Chr4:6302518..6302519 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2495G>A (p.Arg832His) single nucleotide variant Cataract 41 [RCV002499716]|not provided [RCV001357086] Chr4:6302290 [GRCh38]
Chr4:6304017 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) single nucleotide variant Cataract 41 [RCV002499541]|Inborn genetic diseases [RCV002541826]|Wolfram syndrome 1 [RCV003128199]|not provided [RCV001295108] Chr4:6301929 [GRCh38]
Chr4:6303656 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) single nucleotide variant Cataract 41 [RCV002499558]|Inborn genetic diseases [RCV004036162]|Wolfram syndrome 1 [RCV003127769]|not provided [RCV001300363] Chr4:6301188 [GRCh38]
Chr4:6302915 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) single nucleotide variant Cataract 41 [RCV002499595]|not provided [RCV001310826] Chr4:6300891 [GRCh38]
Chr4:6302618 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.830A>G (p.Lys277Arg) single nucleotide variant Cataract 41 [RCV005038133]|WFS1-related disorder [RCV004531165]|not provided [RCV001363976] Chr4:6295158 [GRCh38]
Chr4:6296885 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.412C>T (p.Arg138Cys) single nucleotide variant WFS1-related disorder [RCV004738232]|Wolfram syndrome 1 [RCV002509124]|not provided [RCV001296231] Chr4:6289083 [GRCh38]
Chr4:6290810 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.630C>T (p.His210=) single nucleotide variant not provided [RCV005094589]|not specified [RCV001449728] Chr4:6291366 [GRCh38]
Chr4:6293093 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_006005.3(WFS1):c.2028C>T (p.Arg676=) single nucleotide variant WFS1-related disorder [RCV004533759]|not provided [RCV001574894]|not specified [RCV001449729] Chr4:6301823 [GRCh38]
Chr4:6303550 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2498T>A (p.Leu833Gln) single nucleotide variant Hearing impairment [RCV001375085] Chr4:6302293 [GRCh38]
Chr4:6304020 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.920C>T (p.Ala307Val) single nucleotide variant Cataract 41 [RCV005038141]|not provided [RCV001365933] Chr4:6300715 [GRCh38]
Chr4:6302442 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1885C>T (p.Arg629Trp) single nucleotide variant not provided [RCV001384572] Chr4:6301680 [GRCh38]
Chr4:6303407 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) single nucleotide variant Cataract 41 [RCV002501816]|Wolfram syndrome 1 [RCV004789643]|not provided [RCV001519101] Chr4:6300943 [GRCh38]
Chr4:6302670 [GRCh37]
Chr4:4p16.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.691G>A (p.Glu231Lys) single nucleotide variant not provided [RCV001393184] Chr4:6291976 [GRCh38]
Chr4:6293703 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.612C>T (p.Val204=) single nucleotide variant not provided [RCV001444828] Chr4:6291348 [GRCh38]
Chr4:6293075 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2610C>G (p.Thr870=) single nucleotide variant not provided [RCV001408318] Chr4:6302405 [GRCh38]
Chr4:6304132 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) single nucleotide variant Cataract 41 [RCV001535831]|Wolfram syndrome 1 [RCV004690112] Chr4:6277531 [GRCh38]
Chr4:6279258 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2487G>A (p.Leu829=) single nucleotide variant not provided [RCV001715381] Chr4:6302282 [GRCh38]
Chr4:6304009 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.-5-255G>C single nucleotide variant not provided [RCV001698575] Chr4:6277196 [GRCh38]
Chr4:6278923 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.-6+229G>C single nucleotide variant not provided [RCV001618840] Chr4:6270243 [GRCh38]
Chr4:6271970 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2416G>C (p.Ala806Pro) single nucleotide variant not provided [RCV001386851] Chr4:6302211 [GRCh38]
Chr4:6303938 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.882C>T (p.His294=) single nucleotide variant Cataract 41 [RCV002495708]|not provided [RCV001476016] Chr4:6300677 [GRCh38]
Chr4:6302404 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.567C>A (p.Pro189=) single nucleotide variant not provided [RCV001500897] Chr4:6291303 [GRCh38]
Chr4:6293030 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) single nucleotide variant Cataract 41 [RCV001535945]|not provided [RCV003708603] Chr4:6301751 [GRCh38]
Chr4:6303478 [GRCh37]
Chr4:4p16.1		 pathogenic
Single allele deletion not provided [RCV002227826] Chr4:3101924..7588850 [GRCh38]
Chr4:4p16.3-16.1		 likely pathogenic
NM_006005.3(WFS1):c.1682T>G (p.Ile561Ser) single nucleotide variant not provided [RCV003108876] Chr4:6301477 [GRCh38]
Chr4:6303204 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.418G>A (p.Glu140Lys) single nucleotide variant not provided [RCV001730436] Chr4:6289089 [GRCh38]
Chr4:6290816 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2030C>G (p.Ala677Gly) single nucleotide variant Wolfram syndrome 1 [RCV003127192] Chr4:6301825 [GRCh38]
Chr4:6303552 [GRCh37]
Chr4:4p16.1		 uncertain risk allele
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys) single nucleotide variant Cataract 41 [RCV005038283]|Wolfram syndrome 1 [RCV001730049]|not provided [RCV002538697] Chr4:6301902 [GRCh38]
Chr4:6303629 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1109C>T (p.Ala370Val) single nucleotide variant Developmental cataract [RCV001775024] Chr4:6300904 [GRCh38]
Chr4:6302631 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.125G>C (p.Arg42Pro) single nucleotide variant not provided [RCV004784676] Chr4:6277580 [GRCh38]
Chr4:6279307 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1145T>C (p.Leu382Pro) single nucleotide variant Wolfram-like syndrome [RCV003138144]|not provided [RCV002273402] Chr4:6300940 [GRCh38]
Chr4:6302667 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.663G>C (p.Lys221Asn) single nucleotide variant not provided [RCV001768020] Chr4:6291948 [GRCh38]
Chr4:6293675 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2330T>G (p.Ile777Ser) single nucleotide variant not provided [RCV001758928] Chr4:6302125 [GRCh38]
Chr4:6303852 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.908T>C (p.Leu303Pro) single nucleotide variant not provided [RCV001768179] Chr4:6300703 [GRCh38]
Chr4:6302430 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2513C>T (p.Pro838Leu) single nucleotide variant Cataract 41 [RCV005038307]|not provided [RCV001768196] Chr4:6302308 [GRCh38]
Chr4:6304035 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2575C>T (p.Arg859Trp) single nucleotide variant not provided [RCV001768230] Chr4:6302370 [GRCh38]
Chr4:6304097 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1424C>T (p.Pro475Leu) single nucleotide variant not provided [RCV001768370] Chr4:6301219 [GRCh38]
Chr4:6302946 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys) single nucleotide variant Cataract 41 [RCV002482285]|WFS1-related disorder [RCV004528532]|not provided [RCV001768391] Chr4:6301161 [GRCh38]
Chr4:6302888 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2615A>C (p.His872Pro) single nucleotide variant not provided [RCV002272117] Chr4:6302410 [GRCh38]
Chr4:6304137 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2224T>C (p.Cys742Arg) single nucleotide variant not provided [RCV001768424] Chr4:6302019 [GRCh38]
Chr4:6303746 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2113A>G (p.Lys705Glu) single nucleotide variant Cataract 41 [RCV002249202]|not provided [RCV004774638] Chr4:6301908 [GRCh38]
Chr4:6303635 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1553T>A (p.Met518Lys) single nucleotide variant not provided [RCV001776466] Chr4:6301348 [GRCh38]
Chr4:6303075 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2166G>A (p.Met722Ile) single nucleotide variant Cataract 41 [RCV005038315]|not provided [RCV001776475] Chr4:6301961 [GRCh38]
Chr4:6303688 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.907C>A (p.Leu303Met) single nucleotide variant not provided [RCV001776675] Chr4:6300702 [GRCh38]
Chr4:6302429 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln) single nucleotide variant Cataract 41 [RCV002489812]|not provided [RCV001757511] Chr4:6277532 [GRCh38]
Chr4:6279259 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe) single nucleotide variant Cataract 41 [RCV002506803]|not provided [RCV001774918] Chr4:6300774 [GRCh38]
Chr4:6302501 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile) single nucleotide variant Cataract 41 [RCV002489824]|not provided [RCV001776381] Chr4:6301579 [GRCh38]
Chr4:6303306 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2619C>T (p.Gly873=) single nucleotide variant Cataract 41 [RCV005038314]|not provided [RCV001776428] Chr4:6302414 [GRCh38]
Chr4:6304141 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.693G>A (p.Glu231=) single nucleotide variant not provided [RCV001775000] Chr4:6291978 [GRCh38]
Chr4:6293705 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2432_2433delinsGA (p.Lys811Arg) indel not provided [RCV001768421] Chr4:6302227..6302228 [GRCh38]
Chr4:6303954..6303955 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter) single nucleotide variant not provided [RCV001785144] Chr4:6301797 [GRCh38]
Chr4:6303524 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr) single nucleotide variant Wolfram syndrome 1 [RCV001789842] Chr4:6300883 [GRCh38]
Chr4:6302610 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.527T>C (p.Val176Ala) single nucleotide variant Cataract 41 [RCV002489835]|not provided [RCV001787592] Chr4:6291263 [GRCh38]
Chr4:6292990 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1235T>A (p.Val412Asp) single nucleotide variant Inborn genetic diseases [RCV002540658]|not provided [RCV001759069] Chr4:6301030 [GRCh38]
Chr4:6302757 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.763G>A (p.Ala255Thr) single nucleotide variant not provided [RCV001759212] Chr4:6295091 [GRCh38]
Chr4:6296818 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2580C>A (p.His860Gln) single nucleotide variant Cataract 41 [RCV002478023]|not provided [RCV001794723] Chr4:6302375 [GRCh38]
Chr4:6304102 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2542C>G (p.Leu848Val) single nucleotide variant not provided [RCV001767953] Chr4:6302337 [GRCh38]
Chr4:6304064 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1897G>C (p.Val633Leu) single nucleotide variant not provided [RCV001753225] Chr4:6301692 [GRCh38]
Chr4:6303419 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly) single nucleotide variant Cataract 41 [RCV002503235]|not provided [RCV001755328] Chr4:6300895 [GRCh38]
Chr4:6302622 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala) single nucleotide variant Cataract 41 [RCV002477994]|not provided [RCV001757328] Chr4:6302085 [GRCh38]
Chr4:6303812 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1495C>A (p.Leu499Ile) single nucleotide variant not provided [RCV001769810] Chr4:6301290 [GRCh38]
Chr4:6303017 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1511C>G (p.Pro504Arg) single nucleotide variant not provided [RCV001795701] Chr4:6301306 [GRCh38]
Chr4:6303033 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.47C>T (p.Pro16Leu) single nucleotide variant not provided [RCV001795764] Chr4:6277502 [GRCh38]
Chr4:6279229 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser) single nucleotide variant Cataract 41 [RCV002489817]|not provided [RCV001759353] Chr4:6277681 [GRCh38]
Chr4:6279408 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+2T>G single nucleotide variant not provided [RCV001795717] Chr4:6291369 [GRCh38]
Chr4:6293096 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2624T>C (p.Val875Ala) single nucleotide variant not provided [RCV001776680] Chr4:6302419 [GRCh38]
Chr4:6304146 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val) single nucleotide variant not provided [RCV001776739] Chr4:6301569 [GRCh38]
Chr4:6303296 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.175G>T (p.Ala59Ser) single nucleotide variant Inborn genetic diseases [RCV002541070]|not provided [RCV001776703] Chr4:6277630 [GRCh38]
Chr4:6279357 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2275C>G (p.Leu759Val) single nucleotide variant not provided [RCV001776969] Chr4:6302070 [GRCh38]
Chr4:6303797 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.530G>A (p.Arg177His) single nucleotide variant not provided [RCV001776903] Chr4:6291266 [GRCh38]
Chr4:6292993 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2331dup (p.Thr778fs) duplication not provided [RCV001797226] Chr4:6302124..6302125 [GRCh38]
Chr4:6303851..6303852 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.358G>A (p.Glu120Lys) single nucleotide variant not provided [RCV001797256] Chr4:6289029 [GRCh38]
Chr4:6290756 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1649A>T (p.Glu550Val) single nucleotide variant not provided [RCV001755421] Chr4:6301444 [GRCh38]
Chr4:6303171 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2163C>G (p.Asn721Lys) single nucleotide variant not provided [RCV001755258] Chr4:6301958 [GRCh38]
Chr4:6303685 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2581G>A (p.Val861Met) single nucleotide variant not provided [RCV001755260] Chr4:6302376 [GRCh38]
Chr4:6304103 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1329C>G (p.Ser443Arg) single nucleotide variant not provided [RCV001755337] Chr4:6301124 [GRCh38]
Chr4:6302851 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.456A>T (p.Arg152Ser) single nucleotide variant not provided [RCV001757386] Chr4:6289127 [GRCh38]
Chr4:6290854 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) single nucleotide variant Cataract 41 [RCV002503237]|Optic atrophy [RCV004815628]|not provided [RCV001757412] Chr4:6301239 [GRCh38]
Chr4:6302966 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1297G>C (p.Ala433Pro) single nucleotide variant Optic atrophy [RCV004817520] Chr4:6301092 [GRCh38]
Chr4:6302819 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2004G>C (p.Gln668His) single nucleotide variant not provided [RCV001889087] Chr4:6301799 [GRCh38]
Chr4:6303526 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1764G>T (p.Trp588Cys) single nucleotide variant Cataract 41 [RCV005038487]|not provided [RCV001909744] Chr4:6301559 [GRCh38]
Chr4:6303286 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2089A>G (p.Arg697Gly) single nucleotide variant not provided [RCV001929566] Chr4:6301884 [GRCh38]
Chr4:6303611 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1017C>G (p.Asp339Glu) single nucleotide variant not provided [RCV001950222] Chr4:6300812 [GRCh38]
Chr4:6302539 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) single nucleotide variant Cataract 41 [RCV002507701]|not provided [RCV001970045] Chr4:6301353 [GRCh38]
Chr4:6303080 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1495_1497del (p.Leu499del) deletion not provided [RCV002024756] Chr4:6301288..6301290 [GRCh38]
Chr4:6303015..6303017 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1955A>G (p.Tyr652Cys) single nucleotide variant not provided [RCV001864497] Chr4:6301750 [GRCh38]
Chr4:6303477 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2251G>C (p.Glu751Gln) single nucleotide variant Cataract 41 [RCV005032071]|Inborn genetic diseases [RCV003170432]|not provided [RCV001983745] Chr4:6302046 [GRCh38]
Chr4:6303773 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.284C>A (p.Ala95Asp) single nucleotide variant not provided [RCV001970933] Chr4:6287144 [GRCh38]
Chr4:6288871 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1895T>C (p.Met632Thr) single nucleotide variant not provided [RCV001967590] Chr4:6301690 [GRCh38]
Chr4:6303417 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr) single nucleotide variant Cataract 41 [RCV002503428]|WFS1-related disorder [RCV004738405]|not provided [RCV001947214] Chr4:6302391 [GRCh38]
Chr4:6304118 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) single nucleotide variant Cataract 41 [RCV002479629]|Inborn genetic diseases [RCV002573371]|not provided [RCV002005192] Chr4:6302109 [GRCh38]
Chr4:6303836 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2099G>A (p.Trp700Ter) single nucleotide variant not provided [RCV001946870] Chr4:6301894 [GRCh38]
Chr4:6303621 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1489G>C (p.Val497Leu) single nucleotide variant not provided [RCV001824480] Chr4:6301284 [GRCh38]
Chr4:6303011 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1050C>G (p.Phe350Leu) single nucleotide variant Inborn genetic diseases [RCV004039689]|not provided [RCV001872212] Chr4:6300845 [GRCh38]
Chr4:6302572 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1858G>A (p.Val620Met) single nucleotide variant not provided [RCV001965753] Chr4:6301653 [GRCh38]
Chr4:6303380 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2528A>T (p.Lys843Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001825039]|not provided [RCV001797460] Chr4:6302323 [GRCh38]
Chr4:6304050 [GRCh37]
Chr4:4p16.1		 uncertain significance|not provided
NM_006005.3(WFS1):c.2296C>T (p.His766Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV001825040]|Wolfram syndrome 1 [RCV003128201]|not provided [RCV001797517] Chr4:6302091 [GRCh38]
Chr4:6303818 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance|not provided
NM_006005.3(WFS1):c.2325T>G (p.Phe775Leu) single nucleotide variant not provided [RCV001757432] Chr4:6302120 [GRCh38]
Chr4:6303847 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2290C>T (p.Pro764Ser) single nucleotide variant not provided [RCV001757478] Chr4:6302085 [GRCh38]
Chr4:6303812 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1681A>G (p.Ile561Val) single nucleotide variant Inborn genetic diseases [RCV002541056]|not provided [RCV001776371] Chr4:6301476 [GRCh38]
Chr4:6303203 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.920C>A (p.Ala307Asp) single nucleotide variant not provided [RCV001776758] Chr4:6300715 [GRCh38]
Chr4:6302442 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1243_1251dup (p.Val415_Phe417dup) duplication not provided [RCV001777060] Chr4:6301032..6301033 [GRCh38]
Chr4:6302759..6302760 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.888C>A (p.Ile296=) single nucleotide variant not provided [RCV001777118] Chr4:6300683 [GRCh38]
Chr4:6302410 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2620G>C (p.Ala874Pro) single nucleotide variant not provided [RCV001776958] Chr4:6302415 [GRCh38]
Chr4:6304142 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2601G>C (p.Trp867Cys) single nucleotide variant not specified [RCV001733633] Chr4:6302396 [GRCh38]
Chr4:6304123 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2521G>C (p.Glu841Gln) single nucleotide variant not provided [RCV001755304] Chr4:6302316 [GRCh38]
Chr4:6304043 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.437G>A (p.Arg146His) single nucleotide variant Cataract 41 [RCV005038312]|Inborn genetic diseases [RCV004681249]|WFS1-related disorder [RCV004528533]|not provided [RCV001755690] Chr4:6289108 [GRCh38]
Chr4:6290835 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.463A>G (p.Ile155Val) single nucleotide variant not provided [RCV001757326] Chr4:6291199 [GRCh38]
Chr4:6292926 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1180G>T (p.Glu394Ter) single nucleotide variant Wolfram syndrome 1 [RCV001805739] Chr4:6300975 [GRCh38]
Chr4:6302702 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1165G>C (p.Asp389His) single nucleotide variant Wolfram-like syndrome [RCV001809161] Chr4:6300960 [GRCh38]
Chr4:6302687 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) single nucleotide variant Cataract 41 [RCV002482335]|Inborn genetic diseases [RCV003247030]|not provided [RCV001806920] Chr4:6301273 [GRCh38]
Chr4:6303000 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1002C>G (p.Ser334Arg) single nucleotide variant not provided [RCV001806581] Chr4:6300797 [GRCh38]
Chr4:6302524 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn) single nucleotide variant not provided [RCV001811876] Chr4:6291247 [GRCh38]
Chr4:6292974 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.861_861+8del deletion Optic atrophy [RCV004817564]|not provided [RCV005101964] Chr4:6295188..6295196 [GRCh38]
Chr4:6296915..6296923 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2038G>C (p.Glu680Gln) single nucleotide variant Optic atrophy [RCV004817507] Chr4:6301833 [GRCh38]
Chr4:6303560 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1731G>A (p.Leu577=) single nucleotide variant WFS1-related disorder [RCV004536392]|not provided [RCV001874491] Chr4:6301526 [GRCh38]
Chr4:6303253 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu) single nucleotide variant not provided [RCV002008311] Chr4:6301084 [GRCh38]
Chr4:6302811 [GRCh37]
Chr4:4p16.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1016A>G (p.Asp339Gly) single nucleotide variant not provided [RCV001971551] Chr4:6300811 [GRCh38]
Chr4:6302538 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1135G>C (p.Asp379His) single nucleotide variant not provided [RCV002008525] Chr4:6300930 [GRCh38]
Chr4:6302657 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2162A>G (p.Asn721Ser) single nucleotide variant WFS1-related disorder [RCV004738464]|not provided [RCV001950605] Chr4:6301957 [GRCh38]
Chr4:6303684 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1538A>G (p.Tyr513Cys) single nucleotide variant not provided [RCV001864314] Chr4:6301333 [GRCh38]
Chr4:6303060 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.928G>C (p.Ala310Pro) single nucleotide variant not provided [RCV001863978] Chr4:6300723 [GRCh38]
Chr4:6302450 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1675G>T (p.Ala559Ser) single nucleotide variant not provided [RCV001950262] Chr4:6301470 [GRCh38]
Chr4:6303197 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2175C>G (p.Phe725Leu) single nucleotide variant Wolfram syndrome 1 [RCV002275258]|not provided [RCV001964530] Chr4:6301970 [GRCh38]
Chr4:6303697 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1232C>T (p.Ser411Phe) single nucleotide variant Cataract 41 [RCV005023487]|not provided [RCV001948887] Chr4:6301027 [GRCh38]
Chr4:6302754 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.641C>G (p.Ala214Gly) single nucleotide variant not provided [RCV001964882] Chr4:6291926 [GRCh38]
Chr4:6293653 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.2-16.1(chr4:5864059-7458744)x1 copy number loss not provided [RCV001829101] Chr4:5864059..7458744 [GRCh37]
Chr4:4p16.2-16.1		 uncertain significance
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu) single nucleotide variant Cataract 41 [RCV002482615]|not provided [RCV001914530] Chr4:6301006 [GRCh38]
Chr4:6302733 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.861+4A>G single nucleotide variant not provided [RCV001970250] Chr4:6295193 [GRCh38]
Chr4:6296920 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1605G>A (p.Leu535=) single nucleotide variant not provided [RCV001892186] Chr4:6301400 [GRCh38]
Chr4:6303127 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser) single nucleotide variant Cataract 41 [RCV005025594]|not provided [RCV002003819] Chr4:6300877 [GRCh38]
Chr4:6302604 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1918C>G (p.Leu640Val) single nucleotide variant not provided [RCV001984827] Chr4:6301713 [GRCh38]
Chr4:6303440 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.964CAC[1] (p.His323del) microsatellite not provided [RCV002042335] Chr4:6300759..6300761 [GRCh38]
Chr4:6302486..6302488 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser) single nucleotide variant Cataract 41 [RCV005031892]|Inborn genetic diseases [RCV002557824]|Wolfram-like syndrome [RCV005051933]|not provided [RCV001910518] Chr4:6302160 [GRCh38]
Chr4:6303887 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.686T>C (p.Met229Thr) single nucleotide variant Cataract 41 [RCV002484702]|not provided [RCV001965346] Chr4:6291971 [GRCh38]
Chr4:6293698 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.683_684delinsAG (p.Arg228Gln) indel Cataract 41 [RCV005032093]|not provided [RCV002042600] Chr4:6291968..6291969 [GRCh38]
Chr4:6293695..6293696 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter) single nucleotide variant Wolfram syndrome 1 [RCV002052070]|not provided [RCV002552343] Chr4:6301228 [GRCh38]
Chr4:6302955 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1008_1018del (p.Thr337fs) deletion Wolfram syndrome 1 [RCV001822905] Chr4:6300801..6300811 [GRCh38]
Chr4:6302528..6302538 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2564_2565inv (p.Ser855Leu) inversion not provided [RCV001893060] Chr4:6302359..6302360 [GRCh38]
Chr4:6304086..6304087 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1242C>A (p.Phe414Leu) single nucleotide variant not provided [RCV001909013] Chr4:6301037 [GRCh38]
Chr4:6302764 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1501G>A (p.Val501Ile) single nucleotide variant Cataract 41 [RCV005038350]|not provided [RCV001837132] Chr4:6301296 [GRCh38]
Chr4:6303023 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2267G>A (p.Arg756His) single nucleotide variant Cataract 41 [RCV005042643]|not provided [RCV002005725] Chr4:6302062 [GRCh38]
Chr4:6303789 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1550G>A (p.Arg517His) single nucleotide variant Cataract 41 [RCV002478328]|not provided [RCV001909120] Chr4:6301345 [GRCh38]
Chr4:6303072 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile) single nucleotide variant Cataract 41 [RCV002506972]|not provided [RCV001911084] Chr4:6301038 [GRCh38]
Chr4:6302765 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.632A>G (p.Asp211Gly) single nucleotide variant not provided [RCV002019642] Chr4:6291917 [GRCh38]
Chr4:6293644 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1391C>G (p.Thr464Ser) single nucleotide variant not provided [RCV001952267] Chr4:6301186 [GRCh38]
Chr4:6302913 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.593C>T (p.Ala198Val) single nucleotide variant Cataract 41 [RCV002506875]|not provided [RCV002033208] Chr4:6291329 [GRCh38]
Chr4:6293056 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1896G>A (p.Met632Ile) single nucleotide variant not provided [RCV002026196] Chr4:6301691 [GRCh38]
Chr4:6303418 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.572A>G (p.Lys191Arg) single nucleotide variant not provided [RCV001979195] Chr4:6291308 [GRCh38]
Chr4:6293035 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1780C>T (p.Leu594Phe) single nucleotide variant not provided [RCV001877082] Chr4:6301575 [GRCh38]
Chr4:6303302 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1282C>G (p.Pro428Ala) single nucleotide variant not provided [RCV001936810] Chr4:6301077 [GRCh38]
Chr4:6302804 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.481C>T (p.Arg161Trp) single nucleotide variant not provided [RCV001919492] Chr4:6291217 [GRCh38]
Chr4:6292944 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.192G>A (p.Gln64=) single nucleotide variant not provided [RCV001915861] Chr4:6277647 [GRCh38]
Chr4:6279374 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.158G>T (p.Gly53Val) single nucleotide variant not provided [RCV001902663] Chr4:6277613 [GRCh38]
Chr4:6279340 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met) single nucleotide variant Cataract 41 [RCV002482653]|not provided [RCV001924602] Chr4:6301159 [GRCh38]
Chr4:6302886 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.641C>T (p.Ala214Val) single nucleotide variant Cataract 41 [RCV002486595]|Inborn genetic diseases [RCV002625388]|not provided [RCV001991673] Chr4:6291926 [GRCh38]
Chr4:6293653 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2063T>C (p.Ile688Thr) single nucleotide variant WFS1-related disorder [RCV004738463]|not provided [RCV001978868] Chr4:6301858 [GRCh38]
Chr4:6303585 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.92C>A (p.Ala31Asp) single nucleotide variant not provided [RCV002030255] Chr4:6277547 [GRCh38]
Chr4:6279274 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1179C>T (p.Ala393=) single nucleotide variant Cataract 41 [RCV002507962]|not provided [RCV002112258] Chr4:6300974 [GRCh38]
Chr4:6302701 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2658C>T (p.Phe886=) single nucleotide variant not provided [RCV002107398] Chr4:6302453 [GRCh38]
Chr4:6304180 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.818A>C (p.Glu273Ala) single nucleotide variant Cataract 41 [RCV004796710]|Inborn genetic diseases [RCV003033334]|not provided [RCV002075957] Chr4:6295146 [GRCh38]
Chr4:6296873 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile) single nucleotide variant Cataract 41 [RCV002503375]|not provided [RCV002040082] Chr4:6301114 [GRCh38]
Chr4:6302841 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1495C>G (p.Leu499Val) single nucleotide variant not provided [RCV001892220] Chr4:6301290 [GRCh38]
Chr4:6303017 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2026_2027insA (p.Arg676fs) insertion not provided [RCV001908994] Chr4:6301821..6301822 [GRCh38]
Chr4:6303548..6303549 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1205T>C (p.Leu402Pro) single nucleotide variant not provided [RCV002024019] Chr4:6301000 [GRCh38]
Chr4:6302727 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2027G>C (p.Arg676Pro) single nucleotide variant not provided [RCV002024673] Chr4:6301822 [GRCh38]
Chr4:6303549 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2640CTT[3] (p.Phe884dup) microsatellite not provided [RCV002042150] Chr4:6302434..6302435 [GRCh38]
Chr4:6304161..6304162 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr) single nucleotide variant Cataract 41 [RCV002486621]|not provided [RCV002040252] Chr4:6301173 [GRCh38]
Chr4:6302900 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1220A>G (p.His407Arg) single nucleotide variant Cataract 41 [RCV002486755]|not provided [RCV002024697] Chr4:6301015 [GRCh38]
Chr4:6302742 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2524C>T (p.Leu842Phe) single nucleotide variant not provided [RCV002021438] Chr4:6302319 [GRCh38]
Chr4:6304046 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.625G>A (p.Glu209Lys) single nucleotide variant not provided [RCV001914077] Chr4:6291361 [GRCh38]
Chr4:6293088 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1453G>A (p.Gly485Ser) single nucleotide variant not provided [RCV002044377] Chr4:6301248 [GRCh38]
Chr4:6302975 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_006005.3(WFS1):c.1437C>G (p.Pro479=) single nucleotide variant not provided [RCV002006889] Chr4:6301232 [GRCh38]
Chr4:6302959 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr) single nucleotide variant Cataract 41 [RCV002482746]|Inborn genetic diseases [RCV002554216]|not provided [RCV001927568] Chr4:6287164 [GRCh38]
Chr4:6288891 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2598C>G (p.Asp866Glu) single nucleotide variant not provided [RCV002041130] Chr4:6302393 [GRCh38]
Chr4:6304120 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+4C>T single nucleotide variant Optic atrophy [RCV004816791]|WFS1-related disorder [RCV004542187]|Wolfram syndrome 1 [RCV003228031]|not provided [RCV001987146] Chr4:6291371 [GRCh38]
Chr4:6293098 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1000A>C (p.Ser334Arg) single nucleotide variant not provided [RCV001890486] Chr4:6300795 [GRCh38]
Chr4:6302522 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1442T>C (p.Leu481Pro) single nucleotide variant Cataract 41 [RCV005038455]|not provided [RCV001927232] Chr4:6301237 [GRCh38]
Chr4:6302964 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2137G>C (p.Asp713His) single nucleotide variant not provided [RCV001912803] Chr4:6301932 [GRCh38]
Chr4:6303659 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.104A>G (p.Gln35Arg) single nucleotide variant not provided [RCV001872312] Chr4:6277559 [GRCh38]
Chr4:6279286 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2498T>G (p.Leu833Arg) single nucleotide variant not provided [RCV002043528] Chr4:6302293 [GRCh38]
Chr4:6304020 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys) single nucleotide variant Cataract 41 [RCV002492193]|not provided [RCV001969453] Chr4:6301104 [GRCh38]
Chr4:6302831 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004821317]|Cataract 41 [RCV002484411]|not provided [RCV001927943] Chr4:6302110 [GRCh38]
Chr4:6303837 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.673A>G (p.Lys225Glu) single nucleotide variant not provided [RCV002040035] Chr4:6291958 [GRCh38]
Chr4:6293685 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2379C>T (p.Arg793=) single nucleotide variant WFS1-related disorder [RCV004538713]|not provided [RCV002005758] Chr4:6302174 [GRCh38]
Chr4:6303901 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn) single nucleotide variant Cataract 41 [RCV002478290]|not provided [RCV001891460] Chr4:6277568 [GRCh38]
Chr4:6279295 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.271G>A (p.Val91Ile) single nucleotide variant not provided [RCV001931007] Chr4:6287131 [GRCh38]
Chr4:6288858 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1460C>G (p.Thr487Ser) single nucleotide variant Cataract 41 [RCV005031882]|not provided [RCV001938300] Chr4:6301255 [GRCh38]
Chr4:6302982 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2377C>T (p.Arg793Cys) single nucleotide variant Cataract 41 [RCV005032141]|not provided [RCV002036686] Chr4:6302172 [GRCh38]
Chr4:6303899 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1799C>G (p.Thr600Ser) single nucleotide variant Wolfram syndrome 1 [RCV003125948]|not provided [RCV001888604] Chr4:6301594 [GRCh38]
Chr4:6303321 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.962C>G (p.Thr321Arg) single nucleotide variant not provided [RCV002000456] Chr4:6300757 [GRCh38]
Chr4:6302484 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1214A>G (p.Tyr405Cys) single nucleotide variant not provided [RCV001919563] Chr4:6301009 [GRCh38]
Chr4:6302736 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1789A>C (p.Ile597Leu) single nucleotide variant not provided [RCV002018321] Chr4:6301584 [GRCh38]
Chr4:6303311 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1583A>C (p.Tyr528Ser) single nucleotide variant not provided [RCV001961502] Chr4:6301378 [GRCh38]
Chr4:6303105 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1692C>G (p.Phe564Leu) single nucleotide variant Cataract 41 [RCV005038498]|not provided [RCV001942873] Chr4:6301487 [GRCh38]
Chr4:6303214 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2144G>T (p.Ser715Ile) single nucleotide variant not provided [RCV001962061] Chr4:6301939 [GRCh38]
Chr4:6303666 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1457A>T (p.Gln486Leu) single nucleotide variant not provided [RCV001875326] Chr4:6301252 [GRCh38]
Chr4:6302979 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1816G>T (p.Val606Leu) single nucleotide variant not provided [RCV001933117] Chr4:6301611 [GRCh38]
Chr4:6303338 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2005T>C (p.Tyr669His) single nucleotide variant not provided [RCV001956527] Chr4:6301800 [GRCh38]
Chr4:6303527 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.807A>T (p.Glu269Asp) single nucleotide variant Cataract 41 [RCV005031914]|WFS1-related disorder [RCV004738451]|not provided [RCV001936103] Chr4:6295135 [GRCh38]
Chr4:6296862 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.127G>A (p.Ala43Thr) single nucleotide variant not provided [RCV001962225] Chr4:6277582 [GRCh38]
Chr4:6279309 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) deletion Autosomal dominant nonsyndromic hearing loss 6 [RCV003336476]|Cataract 41 [RCV002507696]|Wolfram syndrome 1 [RCV002274237]|not provided [RCV001941578] Chr4:6301310..6301324 [GRCh38]
Chr4:6303037..6303051 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.212G>A (p.Arg71Gln) single nucleotide variant not provided [RCV001887077] Chr4:6277667 [GRCh38]
Chr4:6279394 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.468G>A (p.Thr156=) single nucleotide variant Wolfram syndrome 1 [RCV002509126]|not provided [RCV001942155] Chr4:6291204 [GRCh38]
Chr4:6292931 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.2115G>C (p.Lys705Asn) single nucleotide variant not provided [RCV001975012] Chr4:6301910 [GRCh38]
Chr4:6303637 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2640CTT[1] (p.Phe884del) microsatellite Cataract 41 [RCV005038459]|not provided [RCV001920207] Chr4:6302435..6302437 [GRCh38]
Chr4:6304162..6304164 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1343G>A (p.Ser448Asn) single nucleotide variant not provided [RCV001993683] Chr4:6301138 [GRCh38]
Chr4:6302865 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1429A>C (p.Asn477His) single nucleotide variant not provided [RCV001979096] Chr4:6301224 [GRCh38]
Chr4:6302951 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2104G>A (p.Gly702Ser) single nucleotide variant Optic atrophy [RCV004815702]|not provided [RCV001900340] Chr4:6301899 [GRCh38]
Chr4:6303626 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala) single nucleotide variant Cataract 41 [RCV002506877]|not provided [RCV002046712] Chr4:6301444 [GRCh38]
Chr4:6303171 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2192T>A (p.Met731Lys) single nucleotide variant not provided [RCV001899119] Chr4:6301987 [GRCh38]
Chr4:6303714 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met) single nucleotide variant Cataract 41 [RCV002482616]|not provided [RCV001881006] Chr4:6301440 [GRCh38]
Chr4:6303167 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) single nucleotide variant Cataract 41 [RCV002506999]|Inborn genetic diseases [RCV003167067]|WFS1-related disorder [RCV004538599]|not provided [RCV001935060] Chr4:6301678 [GRCh38]
Chr4:6303405 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1778A>C (p.Glu593Ala) single nucleotide variant Cataract 41 [RCV005038412]|not provided [RCV001900515] Chr4:6301573 [GRCh38]
Chr4:6303300 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1621T>C (p.Cys541Arg) single nucleotide variant not provided [RCV002051469] Chr4:6301416 [GRCh38]
Chr4:6303143 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr) single nucleotide variant Cataract 41 [RCV002478376]|not provided [RCV001920757] Chr4:6302007 [GRCh38]
Chr4:6303734 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) single nucleotide variant Cataract 41 [RCV002484528]|Inborn genetic diseases [RCV003247159]|not provided [RCV001951950] Chr4:6277609 [GRCh38]
Chr4:6279336 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn) single nucleotide variant Cataract 41 [RCV002492350]|not provided [RCV002016364] Chr4:6302401 [GRCh38]
Chr4:6304128 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1869G>A (p.Met623Ile) single nucleotide variant not provided [RCV001877790] Chr4:6301664 [GRCh38]
Chr4:6303391 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu) single nucleotide variant Cataract 41 [RCV002478203]|not provided [RCV001879323] Chr4:6291923 [GRCh38]
Chr4:6293650 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser) single nucleotide variant Cataract 41 [RCV002506963]|not provided [RCV001875309] Chr4:6277474 [GRCh38]
Chr4:6279201 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1446G>C (p.Lys482Asn) single nucleotide variant not provided [RCV001869914] Chr4:6301241 [GRCh38]
Chr4:6302968 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1791C>G (p.Ile597Met) single nucleotide variant not provided [RCV002028868] Chr4:6301586 [GRCh38]
Chr4:6303313 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1025C>T (p.Ala342Val) single nucleotide variant not provided [RCV001878188] Chr4:6300820 [GRCh38]
Chr4:6302547 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) single nucleotide variant Cataract 41 [RCV002497881]|not provided [RCV001951122] Chr4:6301414 [GRCh38]
Chr4:6303141 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.735T>G (p.Asp245Glu) single nucleotide variant not provided [RCV001900999] Chr4:6295063 [GRCh38]
Chr4:6296790 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2125G>A (p.Val709Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004796682]|Cataract 41 [RCV002479407]|not provided [RCV001933234] Chr4:6301920 [GRCh38]
Chr4:6303647 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2548T>G (p.Cys850Gly) single nucleotide variant Cataract 41 [RCV005038444]|not provided [RCV001878138] Chr4:6302343 [GRCh38]
Chr4:6304070 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser) single nucleotide variant Cataract 41 [RCV002503473]|WFS1-related disorder [RCV004529034]|not provided [RCV001922151] Chr4:6291349 [GRCh38]
Chr4:6293076 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.923C>G (p.Ser308Cys) single nucleotide variant Congenital bilateral perisylvian syndrome [RCV003446983]|Optic atrophy [RCV004816895]|not provided [RCV001991879] Chr4:6300718 [GRCh38]
Chr4:6302445 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser) single nucleotide variant Cataract 41 [RCV002491877]|Inborn genetic diseases [RCV002556405]|not provided [RCV001930759] Chr4:6301479 [GRCh38]
Chr4:6303206 [GRCh37]
Chr4:4p16.1		 uncertain significance
NC_000004.11:g.(?_4861627)_(6304195_?)dup duplication not provided [RCV001918830] Chr4:4861627..6304195 [GRCh37]
Chr4:4p16.2-16.1		 uncertain significance
NM_006005.3(WFS1):c.1013_1014delinsAT (p.Ile338Asn) indel not provided [RCV001901661] Chr4:6300808..6300809 [GRCh38]
Chr4:6302535..6302536 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1900A>C (p.Lys634Gln) single nucleotide variant Cataract 41 [RCV005038434]|not provided [RCV001922339] Chr4:6301695 [GRCh38]
Chr4:6303422 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser) single nucleotide variant Cataract 41 [RCV002490271]|not provided [RCV001919107] Chr4:6301275 [GRCh38]
Chr4:6303002 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2615A>G (p.His872Arg) single nucleotide variant Inborn genetic diseases [RCV002555212]|not provided [RCV001882272]|not specified [RCV005238042] Chr4:6302410 [GRCh38]
Chr4:6304137 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2225G>C (p.Cys742Ser) single nucleotide variant not provided [RCV001870581] Chr4:6302020 [GRCh38]
Chr4:6303747 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.836C>G (p.Pro279Arg) single nucleotide variant not provided [RCV001955737] Chr4:6295164 [GRCh38]
Chr4:6296891 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.997_998inv (p.Val333Thr) inversion not provided [RCV001904627] Chr4:6300792..6300793 [GRCh38]
Chr4:6302519..6302520 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.934A>G (p.Met312Val) single nucleotide variant Cataract 41 [RCV005031919]|not provided [RCV001939096] Chr4:6300729 [GRCh38]
Chr4:6302456 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2315G>T (p.Arg772Leu) single nucleotide variant not provided [RCV001877636] Chr4:6302110 [GRCh38]
Chr4:6303837 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg) single nucleotide variant Cataract 41 [RCV002479614]|not provided [RCV001961582] Chr4:6302347 [GRCh38]
Chr4:6304074 [GRCh37]
Chr4:4p16.1		 uncertain significance
NC_000004.11:g.(?_6271704)_(6293744_?)dup duplication not provided [RCV001992563] Chr4:6271704..6293744 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2512C>G (p.Pro838Ala) single nucleotide variant not provided [RCV001883361] Chr4:6302307 [GRCh38]
Chr4:6304034 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2091G>C (p.Arg697Ser) single nucleotide variant not provided [RCV001935385] Chr4:6301886 [GRCh38]
Chr4:6303613 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.415C>T (p.Arg139Cys) single nucleotide variant not provided [RCV001957872] Chr4:6289086 [GRCh38]
Chr4:6290813 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly) single nucleotide variant Cataract 41 [RCV002482733]|Inborn genetic diseases [RCV004681296]|not provided [RCV001884628] Chr4:6295152 [GRCh38]
Chr4:6296879 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2501G>A (p.Gly834Asp) single nucleotide variant not provided [RCV001880780] Chr4:6302296 [GRCh38]
Chr4:6304023 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2050G>A (p.Ala684Thr) single nucleotide variant not provided [RCV001958686] Chr4:6301845 [GRCh38]
Chr4:6303572 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.656T>C (p.Val219Ala) single nucleotide variant Cataract 41 [RCV002484465]|Inborn genetic diseases [RCV002557652]|not provided [RCV001922888] Chr4:6291941 [GRCh38]
Chr4:6293668 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val) single nucleotide variant Cataract 41 [RCV002484824]|not provided [RCV001961167] Chr4:6302077 [GRCh38]
Chr4:6303804 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2237A>G (p.Asn746Ser) single nucleotide variant not provided [RCV001898546] Chr4:6302032 [GRCh38]
Chr4:6303759 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile) single nucleotide variant Cataract 41 [RCV002492110]|not provided [RCV001993013] Chr4:6302187 [GRCh38]
Chr4:6303914 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.228C>T (p.Gly76=) single nucleotide variant not provided [RCV001955064] Chr4:6277683 [GRCh38]
Chr4:6279410 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser) single nucleotide variant Cataract 41 [RCV002498000]|not provided [RCV002019721] Chr4:6301824 [GRCh38]
Chr4:6303551 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.440G>A (p.Arg147Gln) single nucleotide variant Cataract 41 [RCV005038439]|WFS1-related disorder [RCV004738422]|not provided [RCV001875442] Chr4:6289111 [GRCh38]
Chr4:6290838 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2141_2164dup (p.Asn714_Asn721dup) duplication not provided [RCV002012460] Chr4:6301932..6301933 [GRCh38]
Chr4:6303659..6303660 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.203C>T (p.Thr68Ile) single nucleotide variant not provided [RCV001982115] Chr4:6277658 [GRCh38]
Chr4:6279385 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala) single nucleotide variant Cataract 41 [RCV002479826]|not provided [RCV002049028] Chr4:6301614 [GRCh38]
Chr4:6303341 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1958G>A (p.Arg653His) single nucleotide variant Cataract 41 [RCV002479732]|not provided [RCV002015956] Chr4:6301753 [GRCh38]
Chr4:6303480 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2456A>C (p.Gln819Pro) single nucleotide variant not provided [RCV001886195] Chr4:6302251 [GRCh38]
Chr4:6303978 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) single nucleotide variant Cataract 41 [RCV005038478]|not provided [RCV001899046]|not specified [RCV002246586] Chr4:6291208 [GRCh38]
Chr4:6292935 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.2250C>A (p.Ala750=) single nucleotide variant not provided [RCV002051299] Chr4:6302045 [GRCh38]
Chr4:6303772 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2311G>C (p.Asp771His) single nucleotide variant not provided [RCV001958688] Chr4:6302106 [GRCh38]
Chr4:6303833 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1488G>A (p.Leu496=) single nucleotide variant not provided [RCV001958477] Chr4:6301283 [GRCh38]
Chr4:6303010 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.2597A>G (p.Asp866Gly) single nucleotide variant not provided [RCV001923709] Chr4:6302392 [GRCh38]
Chr4:6304119 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1676C>T (p.Ala559Val) single nucleotide variant Wolfram syndrome 1 [RCV003126105]|not provided [RCV002034090] Chr4:6301471 [GRCh38]
Chr4:6303198 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu) single nucleotide variant Cataract 41 [RCV002482571]|not provided [RCV001877134] Chr4:6301038 [GRCh38]
Chr4:6302765 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.67G>T (p.Ala23Ser) single nucleotide variant not provided [RCV001883458] Chr4:6277522 [GRCh38]
Chr4:6279249 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) deletion Cataract 41 [RCV002492133]|Wolfram syndrome 1 [RCV005247315]|not provided [RCV001972770] Chr4:6301026..6301029 [GRCh38]
Chr4:6302753..6302756 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1768A>T (p.Thr590Ser) single nucleotide variant not provided [RCV002017946] Chr4:6301563 [GRCh38]
Chr4:6303290 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) deletion Cataract 41 [RCV002497889]|not provided [RCV001958685] Chr4:6301399..6301412 [GRCh38]
Chr4:6303126..6303139 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1471G>A (p.Val491Met) single nucleotide variant Cataract 41 [RCV002482794]|Inborn genetic diseases [RCV002554376]|not provided [RCV001906440] Chr4:6301266 [GRCh38]
Chr4:6302993 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2213C>A (p.Ala738Asp) single nucleotide variant Cataract 41 [RCV005032086]|WFS1-related disorder [RCV004738489]|not provided [RCV002019239] Chr4:6302008 [GRCh38]
Chr4:6303735 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2136C>A (p.Ile712=) single nucleotide variant not provided [RCV001907406] Chr4:6301931 [GRCh38]
Chr4:6303658 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.932G>A (p.Gly311Asp) single nucleotide variant not provided [RCV001998393] Chr4:6300727 [GRCh38]
Chr4:6302454 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2611G>C (p.Val871Leu) single nucleotide variant Cataract 41 [RCV005042583]|not provided [RCV001989950] Chr4:6302406 [GRCh38]
Chr4:6304133 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg) single nucleotide variant Cataract 41 [RCV002478128]|not provided [RCV001878181] Chr4:6289066 [GRCh38]
Chr4:6290793 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1111T>G (p.Trp371Gly) single nucleotide variant not provided [RCV002030822] Chr4:6300906 [GRCh38]
Chr4:6302633 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2586G>T (p.Lys862Asn) single nucleotide variant not provided [RCV002048810] Chr4:6302381 [GRCh38]
Chr4:6304108 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.712+1G>T single nucleotide variant Wolfram syndrome 1 [RCV002509127]|not provided [RCV001990256] Chr4:6291998 [GRCh38]
Chr4:6293725 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter) single nucleotide variant Wolfram syndrome 1 [RCV003323960]|not provided [RCV001994853] Chr4:6302000 [GRCh38]
Chr4:6303727 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.164G>A (p.Arg55Lys) single nucleotide variant not provided [RCV001877417] Chr4:6277619 [GRCh38]
Chr4:6279346 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2318A>G (p.Tyr773Cys) single nucleotide variant not provided [RCV001957960] Chr4:6302113 [GRCh38]
Chr4:6303840 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) single nucleotide variant Cataract 41 [RCV002503521]|Wolfram syndrome 1 [RCV004698355]|not provided [RCV001902943] Chr4:6301344 [GRCh38]
Chr4:6303071 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.2404A>G (p.Ile802Val) single nucleotide variant not provided [RCV001880566] Chr4:6302199 [GRCh38]
Chr4:6303926 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2024C>T (p.Pro675Leu) single nucleotide variant not provided [RCV001900521] Chr4:6301819 [GRCh38]
Chr4:6303546 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.933C>T (p.Gly311=) single nucleotide variant not provided [RCV002109753] Chr4:6300728 [GRCh38]
Chr4:6302455 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1833C>T (p.Arg611=) single nucleotide variant WFS1-related disorder [RCV004531509]|not provided [RCV002149055] Chr4:6301628 [GRCh38]
Chr4:6303355 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1188C>T (p.Asn396=) single nucleotide variant not provided [RCV002109393] Chr4:6300983 [GRCh38]
Chr4:6302710 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1494C>T (p.Val498=) single nucleotide variant Cataract 41 [RCV002500005]|not provided [RCV002127216] Chr4:6301289 [GRCh38]
Chr4:6303016 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1545C>T (p.Phe515=) single nucleotide variant not provided [RCV002092207] Chr4:6301340 [GRCh38]
Chr4:6303067 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1134C>T (p.Thr378=) single nucleotide variant not provided [RCV002125800] Chr4:6300929 [GRCh38]
Chr4:6302656 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1411C>T (p.Leu471=) single nucleotide variant not provided [RCV002170716] Chr4:6301206 [GRCh38]
Chr4:6302933 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1734C>T (p.Ala578=) single nucleotide variant WFS1-related disorder [RCV004531382]|not provided [RCV002112889] Chr4:6301529 [GRCh38]
Chr4:6303256 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1406C>T (p.Ser469Leu) single nucleotide variant WFS1-related disorder [RCV004738530]|not provided [RCV002116770] Chr4:6301201 [GRCh38]
Chr4:6302928 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1410G>A (p.Leu470=) single nucleotide variant not provided [RCV002131701] Chr4:6301205 [GRCh38]
Chr4:6302932 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1056G>C (p.Leu352=) single nucleotide variant not provided [RCV002078739] Chr4:6300851 [GRCh38]
Chr4:6302578 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.795G>C (p.Leu265=) single nucleotide variant not provided [RCV002195840] Chr4:6295123 [GRCh38]
Chr4:6296850 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.862-4C>G single nucleotide variant not provided [RCV002199367] Chr4:6300653 [GRCh38]
Chr4:6302380 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1179C>G (p.Ala393=) single nucleotide variant not provided [RCV002140772] Chr4:6300974 [GRCh38]
Chr4:6302701 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.729G>A (p.Ala243=) single nucleotide variant not provided [RCV002157993] Chr4:6295057 [GRCh38]
Chr4:6296784 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.862-18G>A single nucleotide variant Cataract 41 [RCV002479885]|not provided [RCV002217466] Chr4:6300639 [GRCh38]
Chr4:6302366 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2145C>T (p.Ser715=) single nucleotide variant not provided [RCV002139666] Chr4:6301940 [GRCh38]
Chr4:6303667 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1239C>T (p.Phe413=) single nucleotide variant not provided [RCV002102400] Chr4:6301034 [GRCh38]
Chr4:6302761 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1392C>G (p.Thr464=) single nucleotide variant not provided [RCV002102452] Chr4:6301187 [GRCh38]
Chr4:6302914 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.915C>T (p.Asp305=) single nucleotide variant not provided [RCV002201971] Chr4:6300710 [GRCh38]
Chr4:6302437 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.276G>A (p.Leu92=) single nucleotide variant not provided [RCV002179741] Chr4:6287136 [GRCh38]
Chr4:6288863 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2612T>G (p.Val871Gly) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004584952]|not provided [RCV002219519] Chr4:6302407 [GRCh38]
Chr4:6304134 [GRCh37]
Chr4:4p16.1		 pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.315+18G>A single nucleotide variant Cataract 41 [RCV002494321]|not provided [RCV002155531] Chr4:6287193 [GRCh38]
Chr4:6288920 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.862-16A>G single nucleotide variant not provided [RCV002107643] Chr4:6300641 [GRCh38]
Chr4:6302368 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2499G>A (p.Leu833=) single nucleotide variant not provided [RCV002191248] Chr4:6302294 [GRCh38]
Chr4:6304021 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2343G>A (p.Met781Ile) single nucleotide variant not provided [RCV002224636] Chr4:6302138 [GRCh38]
Chr4:6303865 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.204C>A (p.Thr68=) single nucleotide variant not provided [RCV002147728] Chr4:6277659 [GRCh38]
Chr4:6279386 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1752G>A (p.Gln584=) single nucleotide variant Cataract 41 [RCV002507909]|not provided [RCV002206694] Chr4:6301547 [GRCh38]
Chr4:6303274 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1401G>A (p.Leu467=) single nucleotide variant not provided [RCV002148091] Chr4:6301196 [GRCh38]
Chr4:6302923 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.861+18C>T single nucleotide variant not provided [RCV002092156] Chr4:6295207 [GRCh38]
Chr4:6296934 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1800C>A (p.Thr600=) single nucleotide variant not provided [RCV002110332] Chr4:6301595 [GRCh38]
Chr4:6303322 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1272G>A (p.Lys424=) single nucleotide variant not provided [RCV002112224] Chr4:6301067 [GRCh38]
Chr4:6302794 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1557A>G (p.Ala519=) single nucleotide variant not provided [RCV002187121] Chr4:6301352 [GRCh38]
Chr4:6303079 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1740G>T (p.Val580=) single nucleotide variant Wolfram syndrome 1 [RCV003126155]|not provided [RCV002105630] Chr4:6301535 [GRCh38]
Chr4:6303262 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1969A>T (p.Met657Leu) single nucleotide variant not provided [RCV002206207] Chr4:6301764 [GRCh38]
Chr4:6303491 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.315+7_315+23del deletion not provided [RCV002186566] Chr4:6287179..6287195 [GRCh38]
Chr4:6288906..6288922 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2526C>T (p.Leu842=) single nucleotide variant not provided [RCV002106357] Chr4:6302321 [GRCh38]
Chr4:6304048 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2520C>T (p.Phe840=) single nucleotide variant Cataract 41 [RCV002500292]|not provided [RCV002145960] Chr4:6302315 [GRCh38]
Chr4:6304042 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.862-10T>G single nucleotide variant not provided [RCV002125365] Chr4:6300647 [GRCh38]
Chr4:6302374 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2262C>T (p.Leu754=) single nucleotide variant not provided [RCV002190111] Chr4:6302057 [GRCh38]
Chr4:6303784 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.632-8C>T single nucleotide variant not provided [RCV002111471] Chr4:6291909 [GRCh38]
Chr4:6293636 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1026C>T (p.Ala342=) single nucleotide variant Cataract 41 [RCV002507918]|not provided [RCV002210081] Chr4:6300821 [GRCh38]
Chr4:6302548 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.315+18G>C single nucleotide variant not provided [RCV002130306] Chr4:6287193 [GRCh38]
Chr4:6288920 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.862-19C>T single nucleotide variant Cataract 41 [RCV002486843]|not provided [RCV002205927] Chr4:6300638 [GRCh38]
Chr4:6302365 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1533G>A (p.Leu511=) single nucleotide variant not provided [RCV002109234] Chr4:6301328 [GRCh38]
Chr4:6303055 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.33C>A (p.Ser11=) single nucleotide variant Cataract 41 [RCV002494474]|not provided [RCV002149082] Chr4:6277488 [GRCh38]
Chr4:6279215 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.713-12C>G single nucleotide variant not provided [RCV002072729] Chr4:6295029 [GRCh38]
Chr4:6296756 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.978G>A (p.Ala326=) single nucleotide variant not provided [RCV002125019] Chr4:6300773 [GRCh38]
Chr4:6302500 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.735T>C (p.Asp245=) single nucleotide variant not provided [RCV002129510] Chr4:6295063 [GRCh38]
Chr4:6296790 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.525C>T (p.Ala175=) single nucleotide variant not provided [RCV002171026] Chr4:6291261 [GRCh38]
Chr4:6292988 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2370G>T (p.Ser790=) single nucleotide variant not provided [RCV002151602] Chr4:6302165 [GRCh38]
Chr4:6303892 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2640C>T (p.Asp880=) single nucleotide variant not provided [RCV002078799] Chr4:6302435 [GRCh38]
Chr4:6304162 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1008C>G (p.Leu336=) single nucleotide variant Cataract 41 [RCV002494144]|WFS1-related disorder [RCV004531333]|not provided [RCV002216050] Chr4:6300803 [GRCh38]
Chr4:6302530 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1047C>T (p.Ile349=) single nucleotide variant not provided [RCV002095475] Chr4:6300842 [GRCh38]
Chr4:6302569 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2349C>T (p.Phe783=) single nucleotide variant Cataract 41 [RCV002494216]|not provided [RCV002107272] Chr4:6302144 [GRCh38]
Chr4:6303871 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1908C>T (p.Ile636=) single nucleotide variant not provided [RCV002095735] Chr4:6301703 [GRCh38]
Chr4:6303430 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.461-7C>T single nucleotide variant not provided [RCV002152298] Chr4:6291190 [GRCh38]
Chr4:6292917 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.926G>A (p.Arg309Lys) single nucleotide variant not provided [RCV002107755] Chr4:6300721 [GRCh38]
Chr4:6302448 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2136C>T (p.Ile712=) single nucleotide variant not provided [RCV002126164] Chr4:6301931 [GRCh38]
Chr4:6303658 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1785C>T (p.Thr595=) single nucleotide variant not provided [RCV002108092] Chr4:6301580 [GRCh38]
Chr4:6303307 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1467C>T (p.Ile489=) single nucleotide variant not provided [RCV002111687] Chr4:6301262 [GRCh38]
Chr4:6302989 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1012A>G (p.Ile338Val) single nucleotide variant Inborn genetic diseases [RCV004045652]|WFS1-related disorder [RCV004738520]|not provided [RCV002213509] Chr4:6300807 [GRCh38]
Chr4:6302534 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2413C>T (p.Arg805Trp) single nucleotide variant not provided [RCV002214314] Chr4:6302208 [GRCh38]
Chr4:6303935 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2172G>A (p.Pro724=) single nucleotide variant not provided [RCV002151404] Chr4:6301967 [GRCh38]
Chr4:6303694 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.713-19G>A single nucleotide variant Cataract 41 [RCV002500392]|not provided [RCV002193499] Chr4:6295022 [GRCh38]
Chr4:6296749 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1365G>A (p.Thr455=) single nucleotide variant Cataract 41 [RCV002500281]|not provided [RCV002153419] Chr4:6301160 [GRCh38]
Chr4:6302887 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1476T>C (p.Pro492=) single nucleotide variant Cataract 41 [RCV002494154]|not provided [RCV002078654] Chr4:6301271 [GRCh38]
Chr4:6302998 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2637C>T (p.Phe879=) single nucleotide variant not provided [RCV002105137] Chr4:6302432 [GRCh38]
Chr4:6304159 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.654C>G (p.Pro218=) single nucleotide variant not provided [RCV002177255] Chr4:6291939 [GRCh38]
Chr4:6293666 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1460C>T (p.Thr487Ile) single nucleotide variant not provided [RCV002155981] Chr4:6301255 [GRCh38]
Chr4:6302982 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1662G>A (p.Leu554=) single nucleotide variant not provided [RCV002154080] Chr4:6301457 [GRCh38]
Chr4:6303184 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1017C>T (p.Asp339=) single nucleotide variant not provided [RCV002216634] Chr4:6300812 [GRCh38]
Chr4:6302539 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1605G>C (p.Leu535=) single nucleotide variant not provided [RCV002220869] Chr4:6301400 [GRCh38]
Chr4:6303127 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2217C>T (p.Tyr739=) single nucleotide variant not provided [RCV002082093] Chr4:6302012 [GRCh38]
Chr4:6303739 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1692C>T (p.Phe564=) single nucleotide variant not provided [RCV002158376] Chr4:6301487 [GRCh38]
Chr4:6303214 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=) single nucleotide variant Cataract 41 [RCV002500009]|not provided [RCV002120291] Chr4:6301913 [GRCh38]
Chr4:6303640 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.456A>G (p.Arg152=) single nucleotide variant not provided [RCV002202500] Chr4:6289127 [GRCh38]
Chr4:6290854 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.712+19C>T single nucleotide variant Cataract 41 [RCV002498199]|not provided [RCV002202907] Chr4:6292016 [GRCh38]
Chr4:6293743 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.903G>A (p.Glu301=) single nucleotide variant not provided [RCV002142646] Chr4:6300698 [GRCh38]
Chr4:6302425 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2352C>T (p.Ser784=) single nucleotide variant not provided [RCV002141041] Chr4:6302147 [GRCh38]
Chr4:6303874 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1221T>C (p.His407=) single nucleotide variant not provided [RCV002081600] Chr4:6301016 [GRCh38]
Chr4:6302743 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2160C>T (p.Ile720=) single nucleotide variant not provided [RCV002143076] Chr4:6301955 [GRCh38]
Chr4:6303682 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1452T>G (p.Leu484=) single nucleotide variant Wolfram syndrome 1 [RCV003126186]|not provided [RCV002143640] Chr4:6301247 [GRCh38]
Chr4:6302974 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1644G>A (p.Leu548=) single nucleotide variant not provided [RCV002118583] Chr4:6301439 [GRCh38]
Chr4:6303166 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.861+19G>A single nucleotide variant not provided [RCV002082808] Chr4:6295208 [GRCh38]
Chr4:6296935 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2499G>T (p.Leu833=) single nucleotide variant not provided [RCV002176934] Chr4:6302294 [GRCh38]
Chr4:6304021 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1398C>A (p.Gly466=) single nucleotide variant not provided [RCV002202967] Chr4:6301193 [GRCh38]
Chr4:6302920 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.987C>T (p.Phe329=) single nucleotide variant not provided [RCV002121487] Chr4:6300782 [GRCh38]
Chr4:6302509 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2391C>T (p.Asp797=) single nucleotide variant Cataract 41 [RCV002480953]|not provided [RCV002117977] Chr4:6302186 [GRCh38]
Chr4:6303913 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.712+18C>G single nucleotide variant not provided [RCV002198371] Chr4:6292015 [GRCh38]
Chr4:6293742 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.861+15C>A single nucleotide variant not provided [RCV002200506] Chr4:6295204 [GRCh38]
Chr4:6296931 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2595C>T (p.His865=) single nucleotide variant Wolfram syndrome 1 [RCV003147737]|not provided [RCV002178146] Chr4:6302390 [GRCh38]
Chr4:6304117 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) single nucleotide variant Cataract 41 [RCV002496131]|not provided [RCV002203823] Chr4:6301172 [GRCh38]
Chr4:6302899 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2655A>G (p.Pro885=) single nucleotide variant not provided [RCV002161997] Chr4:6302450 [GRCh38]
Chr4:6304177 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2232T>G (p.Pro744=) single nucleotide variant not provided [RCV002118979] Chr4:6302027 [GRCh38]
Chr4:6303754 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2031C>G (p.Ala677=) single nucleotide variant not provided [RCV002200422] Chr4:6301826 [GRCh38]
Chr4:6303553 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.862-11C>A single nucleotide variant not provided [RCV003115189] Chr4:6300646 [GRCh38]
Chr4:6302373 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2529G>A (p.Lys843=) single nucleotide variant not provided [RCV003115211] Chr4:6302324 [GRCh38]
Chr4:6304051 [GRCh37]
Chr4:4p16.1		 likely benign
NC_000004.11:g.(?_6279183)_(6279434_?)del deletion not provided [RCV003116473] Chr4:6279183..6279434 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1228del (p.Leu410fs) deletion Cataract 41 [RCV004796988] Chr4:6301023 [GRCh38]
Chr4:6302750 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1653C>T (p.Ser551=) single nucleotide variant Wolfram syndrome 1 [RCV003126403]|not provided [RCV003883957] Chr4:6301448 [GRCh38]
Chr4:6303175 [GRCh37]
Chr4:4p16.1		 benign|likely benign
NM_006005.3(WFS1):c.*683delinsTGTGGGGGA indel Wolfram syndrome 1 [RCV003127184] Chr4:6303151 [GRCh38]
Chr4:6304878 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.317T>A (p.Val106Glu) single nucleotide variant not provided [RCV004776869] Chr4:6288988 [GRCh38]
Chr4:6290715 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2070_2079del (p.Cys690fs) deletion Cataract 41 [RCV004797132] Chr4:6301862..6301871 [GRCh38]
Chr4:6303589..6303598 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2637C>G (p.Phe879Leu) single nucleotide variant Cataract 41 [RCV004797133] Chr4:6302432 [GRCh38]
Chr4:6304159 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1246A>G (p.Ile416Val) single nucleotide variant not provided [RCV003152046] Chr4:6301041 [GRCh38]
Chr4:6302768 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1243G>T (p.Val415Phe) single nucleotide variant Cataract 41 [RCV002278852] Chr4:6301038 [GRCh38]
Chr4:6302765 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr) single nucleotide variant Cataract 41 [RCV002488669]|not provided [RCV002269488] Chr4:6301011 [GRCh38]
Chr4:6302738 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1991T>G (p.Leu664Arg) single nucleotide variant Wolfram syndrome 1 [RCV002283617]|not provided [RCV003096372] Chr4:6301786 [GRCh38]
Chr4:6303513 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_006005.3(WFS1):c.1381_1383del (p.Thr461del) deletion not specified [RCV003236555] Chr4:6301174..6301176 [GRCh38]
Chr4:6302901..6302903 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter) single nucleotide variant Wolfram syndrome 1 [RCV002289346] Chr4:6300907 [GRCh38]
Chr4:6302634 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2350A>C (p.Ser784Arg) single nucleotide variant Wolfram syndrome 1 [RCV003148591] Chr4:6302145 [GRCh38]
Chr4:6303872 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1063A>G (p.Ile355Val) single nucleotide variant WFS1-related disorder [RCV004529253]|not provided [RCV003149359] Chr4:6300858 [GRCh38]
Chr4:6302585 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.996C>A (p.Ile332=) single nucleotide variant not provided [RCV002474230] Chr4:6300791 [GRCh38]
Chr4:6302518 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1840A>G (p.Thr614Ala) single nucleotide variant not provided [RCV002303679] Chr4:6301635 [GRCh38]
Chr4:6303362 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-55C>T single nucleotide variant Wolfram syndrome 1 [RCV002465958] Chr4:6269965 [GRCh38]
Chr4:6271692 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2078T>C (p.Leu693Pro) single nucleotide variant not provided [RCV002296073] Chr4:6301873 [GRCh38]
Chr4:6303600 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1247TCT[1] (p.Phe417del) microsatellite not provided [RCV002511178] Chr4:6301042..6301044 [GRCh38]
Chr4:6302769..6302771 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1450C>T (p.Leu484Phe) single nucleotide variant not provided [RCV002686247] Chr4:6301245 [GRCh38]
Chr4:6302972 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.696C>T (p.Arg232=) single nucleotide variant not provided [RCV002681706] Chr4:6291981 [GRCh38]
Chr4:6293708 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser) single nucleotide variant WFS1-related disorder [RCV004738626]|Wolfram syndrome 1 [RCV003228102]|not provided [RCV002909007] Chr4:6301896 [GRCh38]
Chr4:6303623 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1825C>T (p.Leu609=) single nucleotide variant not provided [RCV002775033] Chr4:6301620 [GRCh38]
Chr4:6303347 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1153G>C (p.Glu385Gln) single nucleotide variant Cataract 41 [RCV005034556]|not provided [RCV002993933] Chr4:6300948 [GRCh38]
Chr4:6302675 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.83A>C (p.Asn28Thr) single nucleotide variant not provided [RCV003033873] Chr4:6277538 [GRCh38]
Chr4:6279265 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1094T>C (p.Phe365Ser) single nucleotide variant not provided [RCV002461655] Chr4:6300889 [GRCh38]
Chr4:6302616 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2539T>C (p.Cys847Arg) single nucleotide variant Cataract 41 [RCV005034630]|not provided [RCV003074552] Chr4:6302334 [GRCh38]
Chr4:6304061 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.764C>T (p.Ala255Val) single nucleotide variant not provided [RCV002462460] Chr4:6295092 [GRCh38]
Chr4:6296819 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1530C>G (p.Tyr510Ter) single nucleotide variant not provided [RCV002908712] Chr4:6301325 [GRCh38]
Chr4:6303052 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2343G>C (p.Met781Ile) single nucleotide variant not provided [RCV003080291] Chr4:6302138 [GRCh38]
Chr4:6303865 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.632-8C>A single nucleotide variant not provided [RCV002871502] Chr4:6291909 [GRCh38]
Chr4:6293636 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1767C>T (p.Phe589=) single nucleotide variant not provided [RCV003038407] Chr4:6301562 [GRCh38]
Chr4:6303289 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.136C>T (p.Pro46Ser) single nucleotide variant not provided [RCV003081683] Chr4:6277591 [GRCh38]
Chr4:6279318 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1646T>C (p.Leu549Pro) single nucleotide variant Cataract 41 [RCV005034480]|not provided [RCV002914419] Chr4:6301441 [GRCh38]
Chr4:6303168 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.337T>C (p.Leu113=) single nucleotide variant not provided [RCV002846606] Chr4:6289008 [GRCh38]
Chr4:6290735 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.232+19_232+32del deletion not provided [RCV002622889] Chr4:6277697..6277710 [GRCh38]
Chr4:6279424..6279437 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.361C>A (p.Leu121Ile) single nucleotide variant Wolfram syndrome 1 [RCV002509133]|not provided [RCV003679139] Chr4:6289032 [GRCh38]
Chr4:6290759 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.813T>C (p.Asp271=) single nucleotide variant not provided [RCV002927006] Chr4:6295141 [GRCh38]
Chr4:6296868 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1512G>C (p.Pro504=) single nucleotide variant not provided [RCV002760469] Chr4:6301307 [GRCh38]
Chr4:6303034 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2638G>A (p.Asp880Asn) single nucleotide variant Wolfram syndrome 1 [RCV003147826]|not provided [RCV002592127] Chr4:6302433 [GRCh38]
Chr4:6304160 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.45C>A (p.Pro15=) single nucleotide variant not provided [RCV002932179] Chr4:6277500 [GRCh38]
Chr4:6279227 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.315+17C>T single nucleotide variant Cataract 41 [RCV002505822]|not provided [RCV002138970] Chr4:6287192 [GRCh38]
Chr4:6288919 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1158C>G (p.Pro386=) single nucleotide variant not provided [RCV002083309] Chr4:6300953 [GRCh38]
Chr4:6302680 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1506C>T (p.Ser502=) single nucleotide variant Cataract 41 [RCV005025714]|WFS1-related disorder [RCV004543892]|not provided [RCV002140732] Chr4:6301301 [GRCh38]
Chr4:6303028 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.444C>T (p.Cys148=) single nucleotide variant Cataract 41 [RCV002494512]|not provided [RCV002180938] Chr4:6289115 [GRCh38]
Chr4:6290842 [GRCh37]
Chr4:4p16.1		 likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1814G>A (p.Ser605Asn) single nucleotide variant not provided [RCV003110581] Chr4:6301609 [GRCh38]
Chr4:6303336 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2057C>A (p.Thr686Asn) single nucleotide variant not provided [RCV003113055] Chr4:6301852 [GRCh38]
Chr4:6303579 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter) single nucleotide variant Cataract 41 [RCV005036665]|not provided [RCV003112160] Chr4:6291928 [GRCh38]
Chr4:6293655 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1661_1687del (p.Leu554_Tyr563delinsHis) deletion not provided [RCV003112161] Chr4:6301456..6301482 [GRCh38]
Chr4:6303183..6303209 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.875C>T (p.Pro292Leu) single nucleotide variant not provided [RCV003121578] Chr4:6300670 [GRCh38]
Chr4:6302397 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1419_1427del (p.Met474_Leu476del) deletion Autosomal dominant nonsyndromic hearing loss 6 [RCV004789992] Chr4:6301214..6301222 [GRCh38]
Chr4:6302941..6302949 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2455C>G (p.Gln819Glu) single nucleotide variant Wolfram syndrome 1 [RCV003148578] Chr4:6302250 [GRCh38]
Chr4:6303977 [GRCh37]
Chr4:4p16.1		 likely risk allele
NM_006005.3(WFS1):c.2337G>A (p.Val779=) single nucleotide variant Wolfram syndrome 1 [RCV003148580] Chr4:6302132 [GRCh38]
Chr4:6303859 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.2668G>C (p.Ala890Pro) single nucleotide variant not provided [RCV003235962] Chr4:6302463 [GRCh38]
Chr4:6304190 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1787A>T (p.Lys596Met) single nucleotide variant not provided [RCV002265098] Chr4:6301582 [GRCh38]
Chr4:6303309 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1971G>C (p.Met657Ile) single nucleotide variant not provided [RCV002293101] Chr4:6301766 [GRCh38]
Chr4:6303493 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2266C>T (p.Arg756Cys) single nucleotide variant Cataract 41 [RCV005032206]|Type 2 diabetes mellitus [RCV003228060]|not provided [RCV002265152] Chr4:6302061 [GRCh38]
Chr4:6303788 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.848C>T (p.Pro283Leu) single nucleotide variant not provided [RCV002269601] Chr4:6295176 [GRCh38]
Chr4:6296903 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1462_1464del (p.Phe488del) deletion not provided [RCV002293910] Chr4:6301256..6301258 [GRCh38]
Chr4:6302983..6302985 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.599T>C (p.Leu200Pro) single nucleotide variant not provided [RCV002291963] Chr4:6291335 [GRCh38]
Chr4:6293062 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.239C>T (p.Thr80Ile) single nucleotide variant not provided [RCV002267427] Chr4:6287099 [GRCh38]
Chr4:6288826 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_006005.3(WFS1):c.-2_-1inv inversion not provided [RCV002285988] Chr4:6277454..6277455 [GRCh38]
Chr4:6279181..6279182 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.753dup (p.Lys252Ter) duplication not provided [RCV002269782] Chr4:6295080..6295081 [GRCh38]
Chr4:6296807..6296808 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1258C>T (p.Pro420Ser) single nucleotide variant not provided [RCV002286970] Chr4:6301053 [GRCh38]
Chr4:6302780 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter) single nucleotide variant Wolfram syndrome 1 [RCV002286558] Chr4:6301712 [GRCh38]
Chr4:6303439 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2528A>G (p.Lys843Arg) single nucleotide variant Cataract 41 [RCV005042786]|not provided [RCV002287074] Chr4:6302323 [GRCh38]
Chr4:6304050 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.255A>T (p.Glu85Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV002290283]|Optic atrophy [RCV004817008] Chr4:6287115 [GRCh38]
Chr4:6288842 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2123G>A (p.Arg708His) single nucleotide variant Wolfram syndrome 1 [RCV004820945]|not provided [RCV003230106] Chr4:6301918 [GRCh38]
Chr4:6303645 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1970T>C (p.Met657Thr) single nucleotide variant not provided [RCV002293727] Chr4:6301765 [GRCh38]
Chr4:6303492 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe) duplication Wolfram syndrome 1 [RCV002289299] Chr4:6300811..6300812 [GRCh38]
Chr4:6302538..6302539 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) single nucleotide variant Optic atrophy [RCV004816997]|Wolfram syndrome 1 [RCV002267791]|not provided [RCV005095953] Chr4:6301738 [GRCh38]
Chr4:6303465 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.939C>G (p.His313Gln) single nucleotide variant not provided [RCV002281412] Chr4:6300734 [GRCh38]
Chr4:6302461 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.259C>T (p.Pro87Ser) single nucleotide variant not provided [RCV002297707] Chr4:6287119 [GRCh38]
Chr4:6288846 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1491_1492insT (p.Val498fs) insertion Wolfram syndrome 1 [RCV002284028] Chr4:6301286..6301287 [GRCh38]
Chr4:6303013..6303014 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1892C>G (p.Ser631Cys) single nucleotide variant Inborn genetic diseases [RCV003305017] Chr4:6301687 [GRCh38]
Chr4:6303414 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.230C>G (p.Thr77Ser) single nucleotide variant not provided [RCV002302164] Chr4:6277685 [GRCh38]
Chr4:6279412 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.158G>C (p.Gly53Ala) single nucleotide variant Wolfram syndrome 1 [RCV002468547] Chr4:6277613 [GRCh38]
Chr4:6279340 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2135T>G (p.Ile712Ser) single nucleotide variant not provided [RCV003149442] Chr4:6301930 [GRCh38]
Chr4:6303657 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.157G>C (p.Gly53Arg) single nucleotide variant not provided [RCV002299919] Chr4:6277612 [GRCh38]
Chr4:6279339 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.424G>T (p.Val142Leu) single nucleotide variant not provided [RCV002301013] Chr4:6289095 [GRCh38]
Chr4:6290822 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1099G>T (p.Asp367Tyr) single nucleotide variant Wolfram syndrome 1 [RCV002509844]|not provided [RCV003689020] Chr4:6300894 [GRCh38]
Chr4:6302621 [GRCh37]
Chr4:4p16.1		 likely risk allele|uncertain significance
NM_006005.3(WFS1):c.884C>G (p.Ala295Gly) single nucleotide variant Wolfram syndrome 1 [RCV002509848] Chr4:6300679 [GRCh38]
Chr4:6302406 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1020C>T (p.Phe340=) single nucleotide variant Wolfram syndrome 1 [RCV002509850] Chr4:6300815 [GRCh38]
Chr4:6302542 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1192G>A (p.Gly398Ser) single nucleotide variant WFS1-related disorder [RCV004534111]|Wolfram syndrome 1 [RCV002509851]|not provided [RCV003225237] Chr4:6300987 [GRCh38]
Chr4:6302714 [GRCh37]
Chr4:4p16.1		 uncertain risk allele|uncertain significance
NM_006005.3(WFS1):c.2223C>A (p.Ala741=) single nucleotide variant not provided [RCV003014043] Chr4:6302018 [GRCh38]
Chr4:6303745 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.453C>T (p.Asp151=) single nucleotide variant not provided [RCV002904281] Chr4:6289124 [GRCh38]
Chr4:6290851 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.122C>T (p.Pro41Leu) single nucleotide variant not provided [RCV002508606] Chr4:6277577 [GRCh38]
Chr4:6279304 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1421T>G (p.Met474Arg) single nucleotide variant Inborn genetic diseases [RCV002879856] Chr4:6301216 [GRCh38]
Chr4:6302943 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1603C>T (p.Leu535=) single nucleotide variant not provided [RCV003033149] Chr4:6301398 [GRCh38]
Chr4:6303125 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.154C>G (p.Pro52Ala) single nucleotide variant Cataract 41 [RCV005032279]|not provided [RCV002461686] Chr4:6277609 [GRCh38]
Chr4:6279336 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.615C>T (p.Gly205=) single nucleotide variant Wolfram syndrome 1 [RCV002509136]|not provided [RCV002571569] Chr4:6291351 [GRCh38]
Chr4:6293078 [GRCh37]
Chr4:4p16.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2664G>C (p.Ser888=) single nucleotide variant not provided [RCV003074622] Chr4:6302459 [GRCh38]
Chr4:6304186 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1797C>T (p.Val599=) single nucleotide variant not provided [RCV003074080] Chr4:6301592 [GRCh38]
Chr4:6303319 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.413G>A (p.Arg138His) single nucleotide variant Cataract 41 [RCV005034528]|Inborn genetic diseases [RCV004068338]|not provided [RCV002971803] Chr4:6289084 [GRCh38]
Chr4:6290811 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1232C>G (p.Ser411Cys) single nucleotide variant not provided [RCV002995564] Chr4:6301027 [GRCh38]
Chr4:6302754 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1832_1833delinsAT (p.Arg611His) indel not provided [RCV003075593] Chr4:6301627..6301628 [GRCh38]
Chr4:6303354..6303355 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2481C>G (p.Thr827=) single nucleotide variant not provided [RCV002685635] Chr4:6302276 [GRCh38]
Chr4:6304003 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.96G>C (p.Ser32=) single nucleotide variant not provided [RCV003017617] Chr4:6277551 [GRCh38]
Chr4:6279278 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.660C>T (p.Pro220=) single nucleotide variant not provided [RCV002972394] Chr4:6291945 [GRCh38]
Chr4:6293672 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.990C>T (p.Phe330=) single nucleotide variant not provided [RCV002756068] Chr4:6300785 [GRCh38]
Chr4:6302512 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1398C>T (p.Gly466=) single nucleotide variant not provided [RCV002967878] Chr4:6301193 [GRCh38]
Chr4:6302920 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.232+13G>A single nucleotide variant not provided [RCV002775663] Chr4:6277700 [GRCh38]
Chr4:6279427 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2268C>T (p.Arg756=) single nucleotide variant not provided [RCV002971919] Chr4:6302063 [GRCh38]
Chr4:6303790 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.837T>G (p.Pro279=) single nucleotide variant Wolfram syndrome 1 [RCV002509849] Chr4:6295165 [GRCh38]
Chr4:6296892 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.873C>T (p.Tyr291=) single nucleotide variant Wolfram syndrome 1 [RCV002509847]|not provided [RCV002574722] Chr4:6300668 [GRCh38]
Chr4:6302395 [GRCh37]
Chr4:4p16.1		 likely pathogenic|likely benign
NM_006005.3(WFS1):c.1435C>T (p.Pro479Ser) single nucleotide variant not provided [RCV002614092] Chr4:6301230 [GRCh38]
Chr4:6302957 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1581C>G (p.Thr527=) single nucleotide variant not provided [RCV002838731] Chr4:6301376 [GRCh38]
Chr4:6303103 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.354T>A (p.Asp118Glu) single nucleotide variant Inborn genetic diseases [RCV002906498] Chr4:6289025 [GRCh38]
Chr4:6290752 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.713-1317A>T single nucleotide variant Wolfram syndrome 1 [RCV002509846] Chr4:6293724 [GRCh38]
Chr4:6295451 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1194C>T (p.Gly398=) single nucleotide variant Wolfram syndrome 1 [RCV002509867] Chr4:6300989 [GRCh38]
Chr4:6302716 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1483C>T (p.His495Tyr) single nucleotide variant not provided [RCV003095630] Chr4:6301278 [GRCh38]
Chr4:6303005 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2259G>C (p.Glu753Asp) single nucleotide variant Cataract 41 [RCV005034548]|not provided [RCV002993570] Chr4:6302054 [GRCh38]
Chr4:6303781 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2646T>A (p.Phe882Leu) single nucleotide variant Inborn genetic diseases [RCV002817483] Chr4:6302441 [GRCh38]
Chr4:6304168 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.966C>G (p.His322Gln) single nucleotide variant not provided [RCV002908392] Chr4:6300761 [GRCh38]
Chr4:6302488 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1941C>A (p.Cys647Ter) single nucleotide variant Inborn genetic diseases [RCV002882906]|not provided [RCV005099771] Chr4:6301736 [GRCh38]
Chr4:6303463 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.589G>A (p.Val197Met) single nucleotide variant not provided [RCV002974825] Chr4:6291325 [GRCh38]
Chr4:6293052 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.604G>C (p.Glu202Gln) single nucleotide variant not provided [RCV002863449] Chr4:6291340 [GRCh38]
Chr4:6293067 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1435C>G (p.Pro479Ala) single nucleotide variant not provided [RCV002838300] Chr4:6301230 [GRCh38]
Chr4:6302957 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.773T>C (p.Val258Ala) single nucleotide variant not provided [RCV002794829] Chr4:6295101 [GRCh38]
Chr4:6296828 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.963G>A (p.Thr321=) single nucleotide variant not provided [RCV002912570] Chr4:6300758 [GRCh38]
Chr4:6302485 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2284A>G (p.Lys762Glu) single nucleotide variant Inborn genetic diseases [RCV002798555] Chr4:6302079 [GRCh38]
Chr4:6303806 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1328G>C (p.Ser443Thr) single nucleotide variant not provided [RCV003055669] Chr4:6301123 [GRCh38]
Chr4:6302850 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1170G>A (p.Val390=) single nucleotide variant not provided [RCV002622857] Chr4:6300965 [GRCh38]
Chr4:6302692 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1670_1671insA (p.Arg558fs) insertion not provided [RCV002870937] Chr4:6301465..6301466 [GRCh38]
Chr4:6303192..6303193 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1227G>A (p.Leu409=) single nucleotide variant not provided [RCV002593379] Chr4:6301022 [GRCh38]
Chr4:6302749 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1492G>C (p.Val498Leu) single nucleotide variant Inborn genetic diseases [RCV002797907] Chr4:6301287 [GRCh38]
Chr4:6303014 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del) deletion Cataract 41 [RCV005034374]|not provided [RCV002695972] Chr4:6302248..6302295 [GRCh38]
Chr4:6303975..6304022 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2552T>C (p.Met851Thr) single nucleotide variant not provided [RCV003055589] Chr4:6302347 [GRCh38]
Chr4:6304074 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.909G>A (p.Leu303=) single nucleotide variant not provided [RCV003022000] Chr4:6300704 [GRCh38]
Chr4:6302431 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1956C>T (p.Tyr652=) single nucleotide variant not provided [RCV002923233] Chr4:6301751 [GRCh38]
Chr4:6303478 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2662T>G (p.Ser888Ala) single nucleotide variant not provided [RCV002923234] Chr4:6302457 [GRCh38]
Chr4:6304184 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1407G>A (p.Ser469=) single nucleotide variant not provided [RCV002620240] Chr4:6301202 [GRCh38]
Chr4:6302929 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.862-3C>T single nucleotide variant not provided [RCV002800570] Chr4:6300654 [GRCh38]
Chr4:6302381 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.995T>C (p.Ile332Thr) single nucleotide variant Inborn genetic diseases [RCV002708180] Chr4:6300790 [GRCh38]
Chr4:6302517 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1372G>A (p.Ala458Thr) single nucleotide variant Cataract 41 [RCV005028178]|not provided [RCV003081312] Chr4:6301167 [GRCh38]
Chr4:6302894 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1446G>A (p.Lys482=) single nucleotide variant not provided [RCV002622942] Chr4:6301241 [GRCh38]
Chr4:6302968 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.812_835del (p.Asp271_Pro279delinsAla) deletion not provided [RCV002825219] Chr4:6295140..6295163 [GRCh38]
Chr4:6296867..6296890 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1801G>T (p.Val601Leu) single nucleotide variant not provided [RCV002979015] Chr4:6301596 [GRCh38]
Chr4:6303323 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.632-10T>G single nucleotide variant not provided [RCV002871499] Chr4:6291907 [GRCh38]
Chr4:6293634 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.316-9G>C single nucleotide variant not provided [RCV002622957] Chr4:6288978 [GRCh38]
Chr4:6290705 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.862-21_862-14del deletion not provided [RCV002658635] Chr4:6300634..6300641 [GRCh38]
Chr4:6302361..6302368 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1224C>T (p.Phe408=) single nucleotide variant not provided [RCV002976251] Chr4:6301019 [GRCh38]
Chr4:6302746 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.176C>A (p.Ala59Asp) single nucleotide variant not provided [RCV002659597] Chr4:6277631 [GRCh38]
Chr4:6279358 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.386_398del (p.Trp129fs) deletion not provided [RCV002847607] Chr4:6289057..6289069 [GRCh38]
Chr4:6290784..6290796 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.460+11G>A single nucleotide variant not provided [RCV003079175] Chr4:6289142 [GRCh38]
Chr4:6290869 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs) insertion Autosomal dominant nonsyndromic hearing loss 6 [RCV002509845] Chr4:6301339..6301340 [GRCh38]
Chr4:6303066..6303067 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.665C>A (p.Ser222Tyr) single nucleotide variant Inborn genetic diseases [RCV004966205]|not provided [RCV002953047] Chr4:6291950 [GRCh38]
Chr4:6293677 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.784del (p.Ser262fs) deletion not provided [RCV002885374] Chr4:6295112 [GRCh38]
Chr4:6296839 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1190T>G (p.Phe397Cys) single nucleotide variant Cataract 41 [RCV005034380]|not provided [RCV002706432] Chr4:6300985 [GRCh38]
Chr4:6302712 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.712+12C>T single nucleotide variant not provided [RCV002621799] Chr4:6292009 [GRCh38]
Chr4:6293736 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1370G>C (p.Arg457Thr) single nucleotide variant not provided [RCV003054314] Chr4:6301165 [GRCh38]
Chr4:6302892 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2335G>T (p.Val779Leu) single nucleotide variant Cataract 41 [RCV005034772]|not provided [RCV002636865] Chr4:6302130 [GRCh38]
Chr4:6303857 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.45C>T (p.Pro15=) single nucleotide variant not provided [RCV002694940] Chr4:6277500 [GRCh38]
Chr4:6279227 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2550C>T (p.Cys850=) single nucleotide variant not provided [RCV002866837] Chr4:6302345 [GRCh38]
Chr4:6304072 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1187A>C (p.Asn396Thr) single nucleotide variant Inborn genetic diseases [RCV002692703] Chr4:6300982 [GRCh38]
Chr4:6302709 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.115G>T (p.Glu39Ter) single nucleotide variant Wolfram syndrome 1 [RCV002509132] Chr4:6277570 [GRCh38]
Chr4:6279297 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.316-14T>G single nucleotide variant Wolfram syndrome 1 [RCV002509134] Chr4:6288973 [GRCh38]
Chr4:6290700 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.461-169_461-168insAGGAGCATG insertion Wolfram syndrome 1 [RCV002509135] Chr4:6291028..6291029 [GRCh38]
Chr4:6292755..6292756 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1813A>G (p.Ser605Gly) single nucleotide variant not provided [RCV003079099] Chr4:6301608 [GRCh38]
Chr4:6303335 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.138C>T (p.Pro46=) single nucleotide variant not provided [RCV002847319] Chr4:6277593 [GRCh38]
Chr4:6279320 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2637C>A (p.Phe879Leu) single nucleotide variant not provided [RCV002781008] Chr4:6302432 [GRCh38]
Chr4:6304159 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1377G>C (p.Leu459=) single nucleotide variant not provided [RCV003021116] Chr4:6301172 [GRCh38]
Chr4:6302899 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.968A>T (p.His323Leu) single nucleotide variant Wolfram syndrome 1 [RCV002509139] Chr4:6300763 [GRCh38]
Chr4:6302490 [GRCh37]
Chr4:4p16.1		 uncertain risk allele
NM_006005.3(WFS1):c.1525_1539dup (p.Tyr513_Leu514insValTyrLeuLeuTyr) duplication not provided [RCV002637238] Chr4:6301309..6301310 [GRCh38]
Chr4:6303036..6303037 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+11T>C single nucleotide variant not provided [RCV002824320] Chr4:6291378 [GRCh38]
Chr4:6293105 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1875G>A (p.Lys625=) single nucleotide variant not provided [RCV002889134] Chr4:6301670 [GRCh38]
Chr4:6303397 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2127G>C (p.Val709=) single nucleotide variant not provided [RCV003038742] Chr4:6301922 [GRCh38]
Chr4:6303649 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2251GAG[2] (p.Glu753del) microsatellite not provided [RCV003080960] Chr4:6302046..6302048 [GRCh38]
Chr4:6303773..6303775 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.952ATC[1] (p.Ile319del) microsatellite not provided [RCV002760961] Chr4:6300746..6300748 [GRCh38]
Chr4:6302473..6302475 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1068C>T (p.Ser356=) single nucleotide variant not provided [RCV002948902] Chr4:6300863 [GRCh38]
Chr4:6302590 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2179A>G (p.Ile727Val) single nucleotide variant not provided [RCV002760272] Chr4:6301974 [GRCh38]
Chr4:6303701 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1588T>A (p.Tyr530Asn) single nucleotide variant not provided [RCV003000006] Chr4:6301383 [GRCh38]
Chr4:6303110 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1728C>G (p.Gly576=) single nucleotide variant not provided [RCV002760768] Chr4:6301523 [GRCh38]
Chr4:6303250 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.13dup (p.Thr5fs) duplication not provided [RCV002913464] Chr4:6277467..6277468 [GRCh38]
Chr4:6279194..6279195 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1703T>C (p.Phe568Ser) single nucleotide variant not provided [RCV003001894] Chr4:6301498 [GRCh38]
Chr4:6303225 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.351G>A (p.Thr117=) single nucleotide variant not provided [RCV003077968] Chr4:6289022 [GRCh38]
Chr4:6290749 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.81C>G (p.Leu27=) single nucleotide variant Wolfram syndrome 1 [RCV002509131] Chr4:6277536 [GRCh38]
Chr4:6279263 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.1221T>G (p.His407Gln) single nucleotide variant not provided [RCV003083028] Chr4:6301016 [GRCh38]
Chr4:6302743 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1857T>C (p.Ser619=) single nucleotide variant not provided [RCV002576428] Chr4:6301652 [GRCh38]
Chr4:6303379 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.662A>C (p.Lys221Thr) single nucleotide variant Cataract 41 [RCV005034577]|not provided [RCV003007939] Chr4:6291947 [GRCh38]
Chr4:6293674 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1283C>G (p.Pro428Arg) single nucleotide variant not provided [RCV002664336] Chr4:6301078 [GRCh38]
Chr4:6302805 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.667C>T (p.Leu223=) single nucleotide variant not provided [RCV002801316] Chr4:6291952 [GRCh38]
Chr4:6293679 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1201C>T (p.His401Tyr) single nucleotide variant not provided [RCV003058141] Chr4:6300996 [GRCh38]
Chr4:6302723 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1443G>A (p.Leu481=) single nucleotide variant not provided [RCV002594916] Chr4:6301238 [GRCh38]
Chr4:6302965 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2664GGC[1] (p.Ala890del) microsatellite not provided [RCV003041527] Chr4:6302458..6302460 [GRCh38]
Chr4:6304185..6304187 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1059C>A (p.Ser353=) single nucleotide variant not provided [RCV002872608] Chr4:6300854 [GRCh38]
Chr4:6302581 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1728C>A (p.Gly576=) single nucleotide variant not provided [RCV002676520] Chr4:6301523 [GRCh38]
Chr4:6303250 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1993A>T (p.Thr665Ser) single nucleotide variant not provided [RCV002941917] Chr4:6301788 [GRCh38]
Chr4:6303515 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1982A>C (p.Asn661Thr) single nucleotide variant not provided [RCV002770574] Chr4:6301777 [GRCh38]
Chr4:6303504 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.969C>T (p.His323=) single nucleotide variant not provided [RCV002647141] Chr4:6300764 [GRCh38]
Chr4:6302491 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.853C>T (p.Arg285Cys) single nucleotide variant Cataract 41 [RCV005034629]|not provided [RCV003065150] Chr4:6295181 [GRCh38]
Chr4:6296908 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1248C>T (p.Ile416=) single nucleotide variant not provided [RCV002576231] Chr4:6301043 [GRCh38]
Chr4:6302770 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1342A>G (p.Ser448Gly) single nucleotide variant not provided [RCV002957894] Chr4:6301137 [GRCh38]
Chr4:6302864 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.997G>C (p.Val333Leu) single nucleotide variant Cataract 41 [RCV005034598]|not provided [RCV003039715] Chr4:6300792 [GRCh38]
Chr4:6302519 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1544T>C (p.Phe515Ser) single nucleotide variant not provided [RCV002802144] Chr4:6301339 [GRCh38]
Chr4:6303066 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1633G>T (p.Val545Leu) single nucleotide variant not provided [RCV003042868] Chr4:6301428 [GRCh38]
Chr4:6303155 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2283C>T (p.Ala761=) single nucleotide variant not provided [RCV002805847] Chr4:6302078 [GRCh38]
Chr4:6303805 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2168T>C (p.Leu723Pro) single nucleotide variant not provided [RCV002664338] Chr4:6301963 [GRCh38]
Chr4:6303690 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.2588T>C (p.Ile863Thr) single nucleotide variant not provided [RCV002666664] Chr4:6302383 [GRCh38]
Chr4:6304110 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2099G>T (p.Trp700Leu) single nucleotide variant not provided [RCV003056226] Chr4:6301894 [GRCh38]
Chr4:6303621 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2131G>A (p.Asp711Asn) single nucleotide variant not provided [RCV003082287] Chr4:6301926 [GRCh38]
Chr4:6303653 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.48G>A (p.Pro16=) single nucleotide variant not provided [RCV002572412] Chr4:6277503 [GRCh38]
Chr4:6279230 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2349C>A (p.Phe783Leu) single nucleotide variant not provided [RCV003057479] Chr4:6302144 [GRCh38]
Chr4:6303871 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.460+14del deletion not provided [RCV003005348] Chr4:6289145 [GRCh38]
Chr4:6290872 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1274A>C (p.Asp425Ala) single nucleotide variant Inborn genetic diseases [RCV002873039] Chr4:6301069 [GRCh38]
Chr4:6302796 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.943C>T (p.Leu315=) single nucleotide variant not provided [RCV003024961] Chr4:6300738 [GRCh38]
Chr4:6302465 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1669C>T (p.Leu557Phe) single nucleotide variant not provided [RCV002664337] Chr4:6301464 [GRCh38]
Chr4:6303191 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1349A>C (p.His450Pro) single nucleotide variant not provided [RCV002624701] Chr4:6301144 [GRCh38]
Chr4:6302871 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.280A>G (p.Arg94Gly) single nucleotide variant not provided [RCV003040053] Chr4:6287140 [GRCh38]
Chr4:6288867 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.318G>A (p.Val106=) single nucleotide variant not provided [RCV003024446] Chr4:6288989 [GRCh38]
Chr4:6290716 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.461-6C>A single nucleotide variant not provided [RCV002985225] Chr4:6291191 [GRCh38]
Chr4:6292918 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1332C>T (p.Tyr444=) single nucleotide variant not provided [RCV002663355] Chr4:6301127 [GRCh38]
Chr4:6302854 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1499_1500inv (p.Asn500Ser) inversion not provided [RCV002765362]|not specified [RCV004782957] Chr4:6301294..6301295 [GRCh38]
Chr4:6303021..6303022 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2382GGA[1] (p.Glu795del) microsatellite Cataract 41 [RCV005045357]|not provided [RCV002625033] Chr4:6302175..6302177 [GRCh38]
Chr4:6303902..6303904 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.460+13G>A single nucleotide variant not provided [RCV003041347] Chr4:6289144 [GRCh38]
Chr4:6290871 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1138C>G (p.Leu380Val) single nucleotide variant not provided [RCV002958686] Chr4:6300933 [GRCh38]
Chr4:6302660 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1052A>C (p.Tyr351Ser) single nucleotide variant not provided [RCV003042293] Chr4:6300847 [GRCh38]
Chr4:6302574 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1979A>G (p.Tyr660Cys) single nucleotide variant not provided [RCV002957707] Chr4:6301774 [GRCh38]
Chr4:6303501 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1652C>T (p.Ser551Phe) single nucleotide variant not provided [RCV003042338] Chr4:6301447 [GRCh38]
Chr4:6303174 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2655A>C (p.Pro885=) single nucleotide variant not provided [RCV002850879] Chr4:6302450 [GRCh38]
Chr4:6304177 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.802G>A (p.Asp268Asn) single nucleotide variant not provided [RCV002917551] Chr4:6295130 [GRCh38]
Chr4:6296857 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1305C>T (p.Ile435=) single nucleotide variant not provided [RCV002958218] Chr4:6301100 [GRCh38]
Chr4:6302827 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.460+5G>A single nucleotide variant not provided [RCV002894273] Chr4:6289136 [GRCh38]
Chr4:6290863 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.713-8T>C single nucleotide variant not provided [RCV003041925] Chr4:6295033 [GRCh38]
Chr4:6296760 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1326C>T (p.Thr442=) single nucleotide variant not provided [RCV003056788] Chr4:6301121 [GRCh38]
Chr4:6302848 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1177G>A (p.Ala393Thr) single nucleotide variant not provided [RCV002766233] Chr4:6300972 [GRCh38]
Chr4:6302699 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2038_2040del (p.Glu680del) deletion not provided [RCV002745364] Chr4:6301831..6301833 [GRCh38]
Chr4:6303558..6303560 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1230C>T (p.Leu410=) single nucleotide variant not provided [RCV002953888] Chr4:6301025 [GRCh38]
Chr4:6302752 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2273A>G (p.Lys758Arg) single nucleotide variant not provided [RCV002602707] Chr4:6302068 [GRCh38]
Chr4:6303795 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1644G>C (p.Leu548=) single nucleotide variant not provided [RCV002628113] Chr4:6301439 [GRCh38]
Chr4:6303166 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.713-4T>C single nucleotide variant not provided [RCV002650617] Chr4:6295037 [GRCh38]
Chr4:6296764 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.599del (p.Leu200fs) deletion not provided [RCV002651803] Chr4:6291335 [GRCh38]
Chr4:6293062 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1458G>A (p.Gln486=) single nucleotide variant not provided [RCV002810956] Chr4:6301253 [GRCh38]
Chr4:6302980 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1757C>T (p.Ala586Val) single nucleotide variant not provided [RCV002676359] Chr4:6301552 [GRCh38]
Chr4:6303279 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.200A>C (p.His67Pro) single nucleotide variant not provided [RCV002811888] Chr4:6277655 [GRCh38]
Chr4:6279382 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1009A>G (p.Thr337Ala) single nucleotide variant not provided [RCV003064113] Chr4:6300804 [GRCh38]
Chr4:6302531 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1948T>C (p.Tyr650His) single nucleotide variant not provided [RCV002651812] Chr4:6301743 [GRCh38]
Chr4:6303470 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1660C>T (p.Leu554=) single nucleotide variant not provided [RCV003031915] Chr4:6301455 [GRCh38]
Chr4:6303182 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.108G>A (p.Glu36=) single nucleotide variant not provided [RCV003046695] Chr4:6277563 [GRCh38]
Chr4:6279290 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.336G>A (p.Gln112=) single nucleotide variant not provided [RCV003091783] Chr4:6289007 [GRCh38]
Chr4:6290734 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.343G>C (p.Gly115Arg) single nucleotide variant not provided [RCV002602706] Chr4:6289014 [GRCh38]
Chr4:6290741 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1456C>T (p.Gln486Ter) single nucleotide variant not provided [RCV002651806] Chr4:6301251 [GRCh38]
Chr4:6302978 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1681A>T (p.Ile561Phe) single nucleotide variant not provided [RCV003026275] Chr4:6301476 [GRCh38]
Chr4:6303203 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2021G>A (p.Gly674Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004585003]|not provided [RCV002651814] Chr4:6301816 [GRCh38]
Chr4:6303543 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1529_1543del (p.Tyr510_Leu514del) deletion not provided [RCV002651809] Chr4:6301321..6301335 [GRCh38]
Chr4:6303048..6303062 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2068T>C (p.Cys690Arg) single nucleotide variant not provided [RCV002651815] Chr4:6301863 [GRCh38]
Chr4:6303590 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1681A>C (p.Ile561Leu) single nucleotide variant not provided [RCV003088156] Chr4:6301476 [GRCh38]
Chr4:6303203 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1722G>A (p.Val574=) single nucleotide variant not provided [RCV002628333] Chr4:6301517 [GRCh38]
Chr4:6303244 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2571C>T (p.Thr857=) single nucleotide variant not provided [RCV002921991] Chr4:6302366 [GRCh38]
Chr4:6304093 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1338C>G (p.Ser446Arg) single nucleotide variant not provided [RCV002857112] Chr4:6301133 [GRCh38]
Chr4:6302860 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.861+20G>A single nucleotide variant not provided [RCV002933471] Chr4:6295209 [GRCh38]
Chr4:6296936 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1174C>G (p.Gln392Glu) single nucleotide variant Cataract 41 [RCV005034603]|not provided [RCV003059993] Chr4:6300969 [GRCh38]
Chr4:6302696 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1757C>G (p.Ala586Gly) single nucleotide variant not provided [RCV003090386] Chr4:6301552 [GRCh38]
Chr4:6303279 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1806G>T (p.Ala602=) single nucleotide variant not provided [RCV003090921] Chr4:6301601 [GRCh38]
Chr4:6303328 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.334C>T (p.Gln112Ter) single nucleotide variant not provided [RCV002651802] Chr4:6289005 [GRCh38]
Chr4:6290732 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1010C>T (p.Thr337Ile) single nucleotide variant not provided [RCV002651804] Chr4:6300805 [GRCh38]
Chr4:6302532 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1232_1233del (p.Ser411fs) microsatellite Wolfram syndrome 1 [RCV004775311]|not provided [RCV002651805] Chr4:6301023..6301024 [GRCh38]
Chr4:6302750..6302751 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1523_1524del (p.Tyr508fs) deletion Wolfram syndrome 1 [RCV003316883]|Wolfram-like syndrome [RCV003323304]|not provided [RCV002651807] Chr4:6301317..6301318 [GRCh38]
Chr4:6303044..6303045 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1526T>G (p.Val509Gly) single nucleotide variant Cataract 41 [RCV005034827]|not provided [RCV002651808] Chr4:6301321 [GRCh38]
Chr4:6303048 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1582T>C (p.Tyr528His) single nucleotide variant not provided [RCV002651810] Chr4:6301377 [GRCh38]
Chr4:6303104 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg) single nucleotide variant Cataract 41 [RCV005045372]|not provided [RCV002651811] Chr4:6301423 [GRCh38]
Chr4:6303150 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1198A>G (p.Asn400Asp) single nucleotide variant not provided [RCV003026649] Chr4:6300993 [GRCh38]
Chr4:6302720 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2187C>T (p.Asp729=) single nucleotide variant not provided [RCV003060896] Chr4:6301982 [GRCh38]
Chr4:6303709 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2390A>T (p.Asp797Val) single nucleotide variant not provided [RCV002651817] Chr4:6302185 [GRCh38]
Chr4:6303912 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.450G>A (p.Ala150=) single nucleotide variant not provided [RCV002988647] Chr4:6289121 [GRCh38]
Chr4:6290848 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2354G>T (p.Ser785Ile) single nucleotide variant Inborn genetic diseases [RCV002920883] Chr4:6302149 [GRCh38]
Chr4:6303876 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.976G>T (p.Ala326Ser) single nucleotide variant WFS1-related disorder [RCV004536629]|not provided [RCV002582289] Chr4:6300771 [GRCh38]
Chr4:6302498 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1122C>A (p.Phe374Leu) single nucleotide variant not provided [RCV002721671] Chr4:6300917 [GRCh38]
Chr4:6302644 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1671C>G (p.Leu557=) single nucleotide variant not provided [RCV002654647] Chr4:6301466 [GRCh38]
Chr4:6303193 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1606G>C (p.Val536Leu) single nucleotide variant not provided [RCV003067874] Chr4:6301401 [GRCh38]
Chr4:6303128 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2160C>G (p.Ile720Met) single nucleotide variant Inborn genetic diseases [RCV002944555] Chr4:6301955 [GRCh38]
Chr4:6303682 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2558A>C (p.Gln853Pro) single nucleotide variant not provided [RCV003032125] Chr4:6302353 [GRCh38]
Chr4:6304080 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1821C>T (p.Pro607=) single nucleotide variant not provided [RCV002582497] Chr4:6301616 [GRCh38]
Chr4:6303343 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1408C>T (p.Leu470=) single nucleotide variant not provided [RCV003070743] Chr4:6301203 [GRCh38]
Chr4:6302930 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.181G>A (p.Ala61Thr) single nucleotide variant Cataract 41 [RCV005034614]|WFS1-related disorder [RCV004738660]|not provided [RCV003052656] Chr4:6277636 [GRCh38]
Chr4:6279363 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2373C>T (p.Arg791=) single nucleotide variant not provided [RCV003071196] Chr4:6302168 [GRCh38]
Chr4:6303895 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1167T>C (p.Asp389=) single nucleotide variant not provided [RCV003071227] Chr4:6300962 [GRCh38]
Chr4:6302689 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1637T>G (p.Val546Gly) single nucleotide variant not provided [RCV002584899] Chr4:6301432 [GRCh38]
Chr4:6303159 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2659C>T (p.Leu887=) single nucleotide variant not provided [RCV003072611] Chr4:6302454 [GRCh38]
Chr4:6304181 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2143A>G (p.Ser715Gly) single nucleotide variant not provided [RCV002583232] Chr4:6301938 [GRCh38]
Chr4:6303665 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2570C>T (p.Thr857Ile) single nucleotide variant Wolfram syndrome 1 [RCV003149086] Chr4:6302365 [GRCh38]
Chr4:6304092 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2238C>A (p.Asn746Lys) single nucleotide variant Cataract 41 [RCV004788303] Chr4:6302033 [GRCh38]
Chr4:6303760 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1399C>A (p.Leu467Met) single nucleotide variant Inborn genetic diseases [RCV003194635] Chr4:6301194 [GRCh38]
Chr4:6302921 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1]) deletion Cataract 41 [RCV005047474]|not provided [RCV003229488] Chr4:6301494..6301499 [GRCh38]
Chr4:6303221..6303226 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1756G>A (p.Ala586Thr) single nucleotide variant Cataract 41 [RCV005047530]|not provided [RCV003325164] Chr4:6301551 [GRCh38]
Chr4:6303278 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.460+1G>C single nucleotide variant Wolfram syndrome 1 [RCV003323321] Chr4:6289132 [GRCh38]
Chr4:6290859 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2006A>G (p.Tyr669Cys) single nucleotide variant Wolfram syndrome 1 [RCV003322585] Chr4:6301801 [GRCh38]
Chr4:6303528 [GRCh37]
Chr4:4p16.1		 likely pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_006005.3(WFS1):c.1929C>G (p.Ile643Met) single nucleotide variant Diabetes [RCV003334455]|not provided [RCV005103912] Chr4:6301724 [GRCh38]
Chr4:6303451 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2032T>A (p.Trp678Arg) single nucleotide variant not provided [RCV003332547] Chr4:6301827 [GRCh38]
Chr4:6303554 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1213T>C (p.Tyr405His) single nucleotide variant not provided [RCV003332503] Chr4:6301008 [GRCh38]
Chr4:6302735 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.478G>A (p.Glu160Lys) single nucleotide variant WFS1-related disorder [RCV004542311]|not provided [RCV003873624] Chr4:6291214 [GRCh38]
Chr4:6292941 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.218G>T (p.Arg73Ile) single nucleotide variant not provided [RCV003571206] Chr4:6277673 [GRCh38]
Chr4:6279400 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1826T>A (p.Leu609Gln) single nucleotide variant WFS1-related disorder [RCV004536735] Chr4:6301621 [GRCh38]
Chr4:6303348 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1565G>T (p.Arg522Met) single nucleotide variant WFS1-related disorder [RCV004529662]|not provided [RCV005061377] Chr4:6301360 [GRCh38]
Chr4:6303087 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2645T>G (p.Phe882Cys) single nucleotide variant Auditory neuropathy [RCV003484490] Chr4:6302440 [GRCh38]
Chr4:6304167 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.233-4197T>C single nucleotide variant not provided [RCV003439232] Chr4:6282896 [GRCh38]
Chr4:6284623 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2294G>A (p.Cys765Tyr) single nucleotide variant not provided [RCV004777495] Chr4:6302089 [GRCh38]
Chr4:6303816 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.596A>G (p.Glu199Gly) single nucleotide variant WFS1-related disorder [RCV004528056] Chr4:6291332 [GRCh38]
Chr4:6293059 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2202C>G (p.Leu734=) single nucleotide variant not provided [RCV003434957] Chr4:6301997 [GRCh38]
Chr4:6303724 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2098T>A (p.Trp700Arg) single nucleotide variant not specified [RCV003404932] Chr4:6301893 [GRCh38]
Chr4:6303620 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1630T>A (p.Ser544Thr) single nucleotide variant not provided [RCV003699103]|not specified [RCV003405120] Chr4:6301425 [GRCh38]
Chr4:6303152 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2614_2625del (p.His872_Val875del) deletion WFS1-related disorder [RCV004528674]|not provided [RCV005104354] Chr4:6302404..6302415 [GRCh38]
Chr4:6304131..6304142 [GRCh37]
Chr4:4p16.1		 pathogenic|uncertain significance
NM_006005.3(WFS1):c.2083G>A (p.Gly695Ser) single nucleotide variant Cataract 41 [RCV005047566]|WFS1-related disorder [RCV004539026] Chr4:6301878 [GRCh38]
Chr4:6303605 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1536_1549dup (p.Arg517fs) duplication WFS1-related disorder [RCV004528017] Chr4:6301330..6301331 [GRCh38]
Chr4:6303057..6303058 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1934T>C (p.Leu645Pro) single nucleotide variant not provided [RCV003457416] Chr4:6301729 [GRCh38]
Chr4:6303456 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.973A>G (p.Asn325Asp) single nucleotide variant WFS1-related disorder [RCV004534324] Chr4:6300768 [GRCh38]
Chr4:6302495 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1562T>G (p.Leu521Arg) single nucleotide variant not provided [RCV003439233] Chr4:6301357 [GRCh38]
Chr4:6303084 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1804G>A (p.Ala602Thr) single nucleotide variant not provided [RCV003439234] Chr4:6301599 [GRCh38]
Chr4:6303326 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.662A>G (p.Lys221Arg) single nucleotide variant not provided [RCV003740245] Chr4:6291947 [GRCh38]
Chr4:6293674 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1883C>G (p.Thr628Arg) single nucleotide variant not provided [RCV003849103] Chr4:6301678 [GRCh38]
Chr4:6303405 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2552_2553dup (p.Ala852fs) duplication not provided [RCV003689607] Chr4:6302346..6302347 [GRCh38]
Chr4:6304073..6304074 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1479C>A (p.Val493=) single nucleotide variant not provided [RCV003693806] Chr4:6301274 [GRCh38]
Chr4:6303001 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1708C>G (p.Leu570Val) single nucleotide variant not provided [RCV003545080] Chr4:6301503 [GRCh38]
Chr4:6303230 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2593C>T (p.His865Tyr) single nucleotide variant not provided [RCV003739837] Chr4:6302388 [GRCh38]
Chr4:6304115 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1529A>G (p.Tyr510Cys) single nucleotide variant not provided [RCV003575222] Chr4:6301324 [GRCh38]
Chr4:6303051 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1088dup (p.Val364fs) duplication not provided [RCV003663395] Chr4:6300881..6300882 [GRCh38]
Chr4:6302608..6302609 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.887T>C (p.Ile296Thr) single nucleotide variant Cataract 41 [RCV005036910]|not provided [RCV003661771] Chr4:6300682 [GRCh38]
Chr4:6302409 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1387G>T (p.Val463Phe) single nucleotide variant not provided [RCV003664476] Chr4:6301182 [GRCh38]
Chr4:6302909 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1513T>G (p.Cys505Gly) single nucleotide variant not provided [RCV003550240] Chr4:6301308 [GRCh38]
Chr4:6303035 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2142C>T (p.Asn714=) single nucleotide variant not provided [RCV003562198] Chr4:6301937 [GRCh38]
Chr4:6303664 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2303A>G (p.Lys768Arg) single nucleotide variant not provided [RCV003561461] Chr4:6302098 [GRCh38]
Chr4:6303825 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.882C>A (p.His294Gln) single nucleotide variant Cataract 41 [RCV005038558]|not provided [RCV003834114] Chr4:6300677 [GRCh38]
Chr4:6302404 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1868T>G (p.Met623Arg) single nucleotide variant not provided [RCV003700666] Chr4:6301663 [GRCh38]
Chr4:6303390 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2621C>G (p.Ala874Gly) single nucleotide variant not provided [RCV002676127] Chr4:6302416 [GRCh38]
Chr4:6304143 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2345C>T (p.Pro782Leu) single nucleotide variant not provided [RCV002807044] Chr4:6302140 [GRCh38]
Chr4:6303867 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.166G>A (p.Asp56Asn) single nucleotide variant not provided [RCV003062097] Chr4:6277621 [GRCh38]
Chr4:6279348 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.457A>C (p.Arg153=) single nucleotide variant not provided [RCV002922984] Chr4:6289128 [GRCh38]
Chr4:6290855 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.541C>T (p.Leu181=) single nucleotide variant WFS1-related disorder [RCV004536500]|not provided [RCV002963228] Chr4:6291277 [GRCh38]
Chr4:6293004 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1289C>A (p.Ser430Ter) single nucleotide variant not provided [RCV002895898] Chr4:6301084 [GRCh38]
Chr4:6302811 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe) single nucleotide variant Cataract 41 [RCV005034785]|not provided [RCV002647198] Chr4:6291295 [GRCh38]
Chr4:6293022 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1879C>T (p.Leu627=) single nucleotide variant not provided [RCV002937186] Chr4:6301674 [GRCh38]
Chr4:6303401 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1563G>A (p.Leu521=) single nucleotide variant not provided [RCV003044446] Chr4:6301358 [GRCh38]
Chr4:6303085 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1901A>G (p.Lys634Arg) single nucleotide variant Cataract 41 [RCV005045265]|not provided [RCV003087715] Chr4:6301696 [GRCh38]
Chr4:6303423 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.967_968delinsAT (p.His323Ile) indel not provided [RCV002649328] Chr4:6300762..6300763 [GRCh38]
Chr4:6302489..6302490 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1744G>T (p.Val582Leu) single nucleotide variant Cataract 41 [RCV005042877]|not provided [RCV002577688] Chr4:6301539 [GRCh38]
Chr4:6303266 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.650G>T (p.Gly217Val) single nucleotide variant not provided [RCV002646693] Chr4:6291935 [GRCh38]
Chr4:6293662 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1621T>G (p.Cys541Gly) single nucleotide variant not provided [RCV002832905] Chr4:6301416 [GRCh38]
Chr4:6303143 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.897C>G (p.Ile299Met) single nucleotide variant Inborn genetic diseases [RCV002897681] Chr4:6300692 [GRCh38]
Chr4:6302419 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1364C>A (p.Thr455Lys) single nucleotide variant not provided [RCV002922673] Chr4:6301159 [GRCh38]
Chr4:6302886 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1591C>T (p.Leu531Phe) single nucleotide variant not provided [RCV002806044] Chr4:6301386 [GRCh38]
Chr4:6303113 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1351G>A (p.Ala451Thr) single nucleotide variant not provided [RCV003061332] Chr4:6301146 [GRCh38]
Chr4:6302873 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1383C>T (p.Thr461=) single nucleotide variant not provided [RCV002648167] Chr4:6301178 [GRCh38]
Chr4:6302905 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1415C>T (p.Pro472Leu) single nucleotide variant not provided [RCV002811844] Chr4:6301210 [GRCh38]
Chr4:6302937 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.503C>A (p.Ser168Tyr) single nucleotide variant not provided [RCV003031026] Chr4:6291239 [GRCh38]
Chr4:6292966 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1659C>T (p.Gly553=) single nucleotide variant not provided [RCV003047575] Chr4:6301454 [GRCh38]
Chr4:6303181 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1578C>T (p.Gly526=) single nucleotide variant not provided [RCV003064950]|not specified [RCV005059139] Chr4:6301373 [GRCh38]
Chr4:6303100 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.110G>C (p.Arg37Thr) single nucleotide variant not provided [RCV002646480] Chr4:6277565 [GRCh38]
Chr4:6279292 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.791T>C (p.Phe264Ser) single nucleotide variant Cataract 41 [RCV005034489]|not provided [RCV002922439] Chr4:6295119 [GRCh38]
Chr4:6296846 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1589A>G (p.Tyr530Cys) single nucleotide variant not provided [RCV002966814] Chr4:6301384 [GRCh38]
Chr4:6303111 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.765C>T (p.Ala255=) single nucleotide variant not provided [RCV002966416] Chr4:6295093 [GRCh38]
Chr4:6296820 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.140A>G (p.Gln47Arg) single nucleotide variant not provided [RCV003065781] Chr4:6277595 [GRCh38]
Chr4:6279322 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1683C>G (p.Ile561Met) single nucleotide variant not provided [RCV003087891] Chr4:6301478 [GRCh38]
Chr4:6303205 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1024_1032del (p.Ala342_Phe344del) deletion not provided [RCV002857512] Chr4:6300812..6300820 [GRCh38]
Chr4:6302539..6302547 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1965G>C (p.Glu655Asp) single nucleotide variant not provided [RCV002937989] Chr4:6301760 [GRCh38]
Chr4:6303487 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1566G>A (p.Arg522=) single nucleotide variant not provided [RCV003066480] Chr4:6301361 [GRCh38]
Chr4:6303088 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1327A>G (p.Ser443Gly) single nucleotide variant not provided [RCV002942555] Chr4:6301122 [GRCh38]
Chr4:6302849 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1110C>T (p.Ala370=) single nucleotide variant not provided [RCV002604136] Chr4:6300905 [GRCh38]
Chr4:6302632 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1512G>A (p.Pro504=) single nucleotide variant not provided [RCV003069766] Chr4:6301307 [GRCh38]
Chr4:6303034 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2378G>A (p.Arg793His) single nucleotide variant not provided [RCV002603757] Chr4:6302173 [GRCh38]
Chr4:6303900 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.669G>A (p.Leu223=) single nucleotide variant not provided [RCV003069863] Chr4:6291954 [GRCh38]
Chr4:6293681 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.130C>A (p.Pro44Thr) single nucleotide variant not provided [RCV002654712] Chr4:6277585 [GRCh38]
Chr4:6279312 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1395C>G (p.Ala465=) single nucleotide variant not provided [RCV002583233] Chr4:6301190 [GRCh38]
Chr4:6302917 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2137G>A (p.Asp713Asn) single nucleotide variant not provided [RCV002582216] Chr4:6301932 [GRCh38]
Chr4:6303659 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1129C>G (p.Leu377Val) single nucleotide variant not provided [RCV002633301] Chr4:6300924 [GRCh38]
Chr4:6302651 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr) single nucleotide variant not provided [RCV003129521] Chr4:6302106 [GRCh38]
Chr4:6303833 [GRCh37]
Chr4:4p16.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.907C>G (p.Leu303Val) single nucleotide variant not provided [RCV002604252] Chr4:6300702 [GRCh38]
Chr4:6302429 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1230C>G (p.Leu410=) single nucleotide variant not provided [RCV002588738] Chr4:6301025 [GRCh38]
Chr4:6302752 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.713-6C>T single nucleotide variant not provided [RCV003070220] Chr4:6295035 [GRCh38]
Chr4:6296762 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1264G>T (p.Ala422Ser) single nucleotide variant not provided [RCV002635313] Chr4:6301059 [GRCh38]
Chr4:6302786 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2459G>T (p.Gly820Val) single nucleotide variant Wolfram syndrome 1 [RCV003148579] Chr4:6302254 [GRCh38]
Chr4:6303981 [GRCh37]
Chr4:4p16.1		 likely risk allele
NM_006005.3(WFS1):c.2484C>A (p.Ile828=) single nucleotide variant Wolfram syndrome 1 [RCV003148620]|not provided [RCV003730410] Chr4:6302279 [GRCh38]
Chr4:6304006 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.890T>C (p.Met297Thr) single nucleotide variant not provided [RCV002603401] Chr4:6300685 [GRCh38]
Chr4:6302412 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2082G>A (p.Glu694=) single nucleotide variant not provided [RCV002583234] Chr4:6301877 [GRCh38]
Chr4:6303604 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1858G>C (p.Val620Leu) single nucleotide variant Cataract 41 [RCV005034761]|not provided [RCV002606819] Chr4:6301653 [GRCh38]
Chr4:6303380 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.316-2A>G single nucleotide variant not provided [RCV002605318] Chr4:6288985 [GRCh38]
Chr4:6290712 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2154T>C (p.Ser718=) single nucleotide variant WFS1-related disorder [RCV004540510]|not provided [RCV003070970] Chr4:6301949 [GRCh38]
Chr4:6303676 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.471C>G (p.Ser157=) single nucleotide variant not provided [RCV003852788] Chr4:6291207 [GRCh38]
Chr4:6292934 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1480G>T (p.Gly494Cys) single nucleotide variant not provided [RCV002606248] Chr4:6301275 [GRCh38]
Chr4:6303002 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1899C>T (p.Val633=) single nucleotide variant not provided [RCV003072417] Chr4:6301694 [GRCh38]
Chr4:6303421 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2546A>G (p.Asn849Ser) single nucleotide variant Cataract 41 [RCV004796768]|not provided [RCV002610263] Chr4:6302341 [GRCh38]
Chr4:6304068 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.498C>T (p.Leu166=) single nucleotide variant not provided [RCV002582211] Chr4:6291234 [GRCh38]
Chr4:6292961 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.568A>C (p.Lys190Gln) single nucleotide variant not provided [RCV003073109] Chr4:6291304 [GRCh38]
Chr4:6293031 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.174G>A (p.Ala58=) single nucleotide variant not provided [RCV002610517] Chr4:6277629 [GRCh38]
Chr4:6279356 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1359C>T (p.Pro453=) single nucleotide variant Cataract 41 [RCV005028216]|WFS1-related disorder [RCV004540544]|not provided [RCV003073183] Chr4:6301154 [GRCh38]
Chr4:6302881 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.1329C>T (p.Ser443=) single nucleotide variant not provided [RCV002588095] Chr4:6301124 [GRCh38]
Chr4:6302851 [GRCh37]
Chr4:4p16.1		 likely benign
NC_000004.12:g.6304102C>A single nucleotide variant Wolfram syndrome 1 [RCV003149065] Chr4:6304102 [GRCh38]
Chr4:6305829 [GRCh37]
Chr4:4p16.1		 benign
NM_006005.3(WFS1):c.890_937dup (p.Met312_His313insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet) duplication not provided [RCV003131902] Chr4:6300684..6300685 [GRCh38]
Chr4:6302411..6302412 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1499A>G (p.Asn500Ser) single nucleotide variant Type 2 diabetes mellitus [RCV004818799]|not provided [RCV004780773] Chr4:6301294 [GRCh38]
Chr4:6303021 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1045A>G (p.Ile349Val) single nucleotide variant Cataract 41 [RCV005029946]|not provided [RCV003228544] Chr4:6300840 [GRCh38]
Chr4:6302567 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe) single nucleotide variant Wolfram syndrome 1 [RCV003223364] Chr4:6301422 [GRCh38]
Chr4:6303149 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1877C>T (p.Ser626Phe) single nucleotide variant not provided [RCV003139355] Chr4:6301672 [GRCh38]
Chr4:6303399 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-5-1409G>T single nucleotide variant not provided [RCV003139356] Chr4:6276042 [GRCh38]
Chr4:6277769 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2542C>T (p.Leu848Phe) single nucleotide variant not provided [RCV003139357] Chr4:6302337 [GRCh38]
Chr4:6304064 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.-6+1824G>C single nucleotide variant not provided [RCV003139358] Chr4:6271838 [GRCh38]
Chr4:6273565 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1508T>G (p.Val503Gly) single nucleotide variant Auditory neuropathy [RCV003483914]|Cataract 41 [RCV005036704]|not provided [RCV003227243] Chr4:6301303 [GRCh38]
Chr4:6303030 [GRCh37]
Chr4:4p16.1		 likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter) single nucleotide variant Wolfram syndrome 1 [RCV003323276] Chr4:6301633 [GRCh38]
Chr4:6303360 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2311G>A (p.Asp771Asn) single nucleotide variant Cataract 41 [RCV005036736]|not provided [RCV003321261] Chr4:6302106 [GRCh38]
Chr4:6303833 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
NM_006005.3(WFS1):c.1385A>C (p.Glu462Ala) single nucleotide variant Cataract 41 [RCV005036745]|not provided [RCV003328916] Chr4:6301180 [GRCh38]
Chr4:6302907 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV003326218] Chr4:6301840 [GRCh38]
Chr4:6303567 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_006005.3(WFS1):c.805G>A (p.Glu269Lys) single nucleotide variant not provided [RCV003328770] Chr4:6295133 [GRCh38]
Chr4:6296860 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_006005.3(WFS1):c.857T>C (p.Leu286Pro) single nucleotide variant Inborn genetic diseases [RCV004963641]|WFS1-related disorder [RCV004531742] Chr4:6295185 [GRCh38]
Chr4:6296912 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.623A>C (p.Asn208Thr) single nucleotide variant Cataract 41 [RCV005036808]|not provided [RCV003457415] Chr4:6291359 [GRCh38]
Chr4:6293086 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2165T>C (p.Met722Thr) single nucleotide variant Inborn genetic diseases [RCV003378346]|not provided [RCV003699076] Chr4:6301960 [GRCh38]
Chr4:6303687 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2123G>T (p.Arg708Leu) single nucleotide variant Auditory neuropathy [RCV003484467] Chr4:6301918 [GRCh38]
Chr4:6303645 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2627A>G (p.Lys876Arg) single nucleotide variant not provided [RCV003570394] Chr4:6302422 [GRCh38]
Chr4:6304149 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.836C>T (p.Pro279Leu) single nucleotide variant not provided [RCV003543292] Chr4:6295164 [GRCh38]
Chr4:6296891 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2394C>T (p.Val798=) single nucleotide variant not provided [RCV003571828] Chr4:6302189 [GRCh38]
Chr4:6303916 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.130C>T (p.Pro44Ser) single nucleotide variant not provided [RCV003686427] Chr4:6277585 [GRCh38]
Chr4:6279312 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.713-1G>T single nucleotide variant not provided [RCV003571037] Chr4:6295040 [GRCh38]
Chr4:6296767 [GRCh37]
Chr4:4p16.1		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006005.3(WFS1):c.1660C>G (p.Leu554Val) single nucleotide variant not provided [RCV003443451] Chr4:6301455 [GRCh38]
Chr4:6303182 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1439A>G (p.Tyr480Cys) single nucleotide variant WFS1-related disorder [RCV004529764]|Wolfram syndrome 1 [RCV003445235] Chr4:6301234 [GRCh38]
Chr4:6302961 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.683_684delinsTG (p.Arg228Leu) indel WFS1-related disorder [RCV004529347] Chr4:6291968..6291969 [GRCh38]
Chr4:6293695..6293696 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1012A>C (p.Ile338Leu) single nucleotide variant WFS1-related disorder [RCV004536687] Chr4:6300807 [GRCh38]
Chr4:6302534 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1611C>T (p.Cys537=) single nucleotide variant not provided [RCV003686763] Chr4:6301406 [GRCh38]
Chr4:6303133 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1851C>A (p.Ser617Arg) single nucleotide variant not provided [RCV003696600] Chr4:6301646 [GRCh38]
Chr4:6303373 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2427G>A (p.Glu809=) single nucleotide variant not provided [RCV003660320] Chr4:6302222 [GRCh38]
Chr4:6303949 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.29C>T (p.Pro10Leu) single nucleotide variant not provided [RCV003849060] Chr4:6277484 [GRCh38]
Chr4:6279211 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1713C>T (p.Pro571=) single nucleotide variant not provided [RCV003828482] Chr4:6301508 [GRCh38]
Chr4:6303235 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.268G>T (p.Glu90Ter) single nucleotide variant not provided [RCV003576564] Chr4:6287128 [GRCh38]
Chr4:6288855 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1404A>G (p.Leu468=) single nucleotide variant not provided [RCV003696655] Chr4:6301199 [GRCh38]
Chr4:6302926 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1410G>C (p.Leu470=) single nucleotide variant not provided [RCV003831539] Chr4:6301205 [GRCh38]
Chr4:6302932 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2623G>T (p.Val875Leu) single nucleotide variant not provided [RCV003545146] Chr4:6302418 [GRCh38]
Chr4:6304145 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.789G>T (p.Leu263=) single nucleotide variant not provided [RCV003691335] Chr4:6295117 [GRCh38]
Chr4:6296844 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1784C>G (p.Thr595Ser) single nucleotide variant not provided [RCV003572611] Chr4:6301579 [GRCh38]
Chr4:6303306 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.828G>T (p.Gly276=) single nucleotide variant not provided [RCV003713547] Chr4:6295156 [GRCh38]
Chr4:6296883 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1313dup (p.Phe439fs) duplication not provided [RCV003739324] Chr4:6301106..6301107 [GRCh38]
Chr4:6302833..6302834 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2649del (p.Phe884fs) deletion not provided [RCV003553890] Chr4:6302444 [GRCh38]
Chr4:6304171 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1628T>C (p.Leu543Pro) single nucleotide variant not provided [RCV003687725] Chr4:6301423 [GRCh38]
Chr4:6303150 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1948T>G (p.Tyr650Asp) single nucleotide variant not provided [RCV003660047] Chr4:6301743 [GRCh38]
Chr4:6303470 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.735T>A (p.Asp245Glu) single nucleotide variant not provided [RCV003694781] Chr4:6295063 [GRCh38]
Chr4:6296790 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1316T>A (p.Phe439Tyr) single nucleotide variant not provided [RCV003696129] Chr4:6301111 [GRCh38]
Chr4:6302838 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2536_2539dup (p.Cys847Ter) duplication Wolfram syndrome 1 [RCV004786950]|not provided [RCV003577178] Chr4:6302330..6302331 [GRCh38]
Chr4:6304057..6304058 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2339G>T (p.Gly780Val) single nucleotide variant not provided [RCV003576832] Chr4:6302134 [GRCh38]
Chr4:6303861 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.439C>T (p.Arg147Trp) single nucleotide variant Cataract 41 [RCV005036895]|not provided [RCV003573596] Chr4:6289110 [GRCh38]
Chr4:6290837 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1561C>G (p.Leu521Val) single nucleotide variant not provided [RCV003573624] Chr4:6301356 [GRCh38]
Chr4:6303083 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2142C>G (p.Asn714Lys) single nucleotide variant not provided [RCV003686565] Chr4:6301937 [GRCh38]
Chr4:6303664 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.232+15T>A single nucleotide variant not provided [RCV003694632] Chr4:6277702 [GRCh38]
Chr4:6279429 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2538C>T (p.Ser846=) single nucleotide variant not provided [RCV003714572] Chr4:6302333 [GRCh38]
Chr4:6304060 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2567C>G (p.Pro856Arg) single nucleotide variant not provided [RCV003695650] Chr4:6302362 [GRCh38]
Chr4:6304089 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2178C>T (p.Phe726=) single nucleotide variant not provided [RCV003691641] Chr4:6301973 [GRCh38]
Chr4:6303700 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2511G>T (p.Trp837Cys) single nucleotide variant not specified [RCV003494281] Chr4:6302306 [GRCh38]
Chr4:6304033 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1596G>A (p.Val532=) single nucleotide variant not provided [RCV003660334] Chr4:6301391 [GRCh38]
Chr4:6303118 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1362C>A (p.Tyr454Ter) single nucleotide variant not provided [RCV004812210] Chr4:6301157 [GRCh38]
Chr4:6302884 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2589C>A (p.Ile863=) single nucleotide variant not provided [RCV003663769] Chr4:6302384 [GRCh38]
Chr4:6304111 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.297C>T (p.Asp99=) single nucleotide variant not provided [RCV005085005] Chr4:6287157 [GRCh38]
Chr4:6288884 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.824C>T (p.Ala275Val) single nucleotide variant Cataract 41 [RCV005036969]|not provided [RCV003717379] Chr4:6295152 [GRCh38]
Chr4:6296879 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1042G>C (p.Val348Leu) single nucleotide variant Optic atrophy [RCV004817622] Chr4:6300837 [GRCh38]
Chr4:6302564 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1251C>T (p.Phe417=) single nucleotide variant not provided [RCV003726064] Chr4:6301046 [GRCh38]
Chr4:6302773 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1325C>T (p.Thr442Ile) single nucleotide variant Cataract 41 [RCV005036916]|not provided [RCV003670426] Chr4:6301120 [GRCh38]
Chr4:6302847 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2080_2105del (p.Glu694fs) deletion not provided [RCV003725366] Chr4:6301874..6301899 [GRCh38]
Chr4:6303601..6303626 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1078T>C (p.Cys360Arg) single nucleotide variant Retinal dystrophy [RCV004818390]|not provided [RCV003669988] Chr4:6300873 [GRCh38]
Chr4:6302600 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2235C>T (p.Gly745=) single nucleotide variant not provided [RCV003697560] Chr4:6302030 [GRCh38]
Chr4:6303757 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.327C>T (p.His109=) single nucleotide variant not provided [RCV003548223] Chr4:6288998 [GRCh38]
Chr4:6290725 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1859T>G (p.Val620Gly) single nucleotide variant not provided [RCV003815842] Chr4:6301654 [GRCh38]
Chr4:6303381 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.994_996dup (p.Ile332_Val333insIle) duplication not provided [RCV003565042] Chr4:6300786..6300787 [GRCh38]
Chr4:6302513..6302514 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1655C>G (p.Thr552Ser) single nucleotide variant not provided [RCV003711264] Chr4:6301450 [GRCh38]
Chr4:6303177 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.862-13A>G single nucleotide variant not provided [RCV003736194] Chr4:6300644 [GRCh38]
Chr4:6302371 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1786A>C (p.Lys596Gln) single nucleotide variant not provided [RCV003838678] Chr4:6301581 [GRCh38]
Chr4:6303308 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.894G>A (p.Glu298=) single nucleotide variant WFS1-related disorder [RCV004539072]|not provided [RCV003702633] Chr4:6300689 [GRCh38]
Chr4:6302416 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2218C>T (p.Pro740Ser) single nucleotide variant not provided [RCV003579676] Chr4:6302013 [GRCh38]
Chr4:6303740 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.880C>G (p.His294Asp) single nucleotide variant Cataract 41 [RCV005036891]|not provided [RCV003557475] Chr4:6300675 [GRCh38]
Chr4:6302402 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.105G>T (p.Gln35His) single nucleotide variant not provided [RCV003557772] Chr4:6277560 [GRCh38]
Chr4:6279287 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1846G>C (p.Ala616Pro) single nucleotide variant not provided [RCV003672922] Chr4:6301641 [GRCh38]
Chr4:6303368 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.517G>C (p.Glu173Gln) single nucleotide variant not provided [RCV003702660] Chr4:6291253 [GRCh38]
Chr4:6292980 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2649C>G (p.Phe883Leu) single nucleotide variant not provided [RCV003702587] Chr4:6302444 [GRCh38]
Chr4:6304171 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2437G>T (p.Val813Leu) single nucleotide variant not provided [RCV003816836] Chr4:6302232 [GRCh38]
Chr4:6303959 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+8G>C single nucleotide variant not provided [RCV003723361] Chr4:6291375 [GRCh38]
Chr4:6293102 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.745G>A (p.Glu249Lys) single nucleotide variant not provided [RCV003700280] Chr4:6295073 [GRCh38]
Chr4:6296800 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.757A>T (p.Lys253Ter) single nucleotide variant not provided [RCV003724213] Chr4:6295085 [GRCh38]
Chr4:6296812 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2383G>A (p.Glu795Lys) single nucleotide variant Inborn genetic diseases [RCV004676302]|not provided [RCV003838195] Chr4:6302178 [GRCh38]
Chr4:6303905 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.315+20C>T single nucleotide variant not provided [RCV003833253] Chr4:6287195 [GRCh38]
Chr4:6288922 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2502C>T (p.Gly834=) single nucleotide variant not provided [RCV003672616] Chr4:6302297 [GRCh38]
Chr4:6304024 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2449C>G (p.Leu817Val) single nucleotide variant not provided [RCV003557914] Chr4:6302244 [GRCh38]
Chr4:6303971 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.903G>C (p.Glu301Asp) single nucleotide variant Cataract 41 [RCV005036921]|not provided [RCV003668659] Chr4:6300698 [GRCh38]
Chr4:6302425 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2103del (p.Gly702fs) deletion not provided [RCV003557931] Chr4:6301897 [GRCh38]
Chr4:6303624 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1738G>C (p.Val580Leu) single nucleotide variant not provided [RCV003667170] Chr4:6301533 [GRCh38]
Chr4:6303260 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1344C>T (p.Ser448=) single nucleotide variant not provided [RCV003559616] Chr4:6301139 [GRCh38]
Chr4:6302866 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2256G>T (p.Glu752Asp) single nucleotide variant not provided [RCV003711984] Chr4:6302051 [GRCh38]
Chr4:6303778 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.467C>T (p.Thr156Met) single nucleotide variant not provided [RCV003555140] Chr4:6291203 [GRCh38]
Chr4:6292930 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp) single nucleotide variant Wolfram syndrome 1 [RCV003992778]|not provided [RCV003555141] Chr4:6301471 [GRCh38]
Chr4:6303198 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1705_1706delinsAG (p.Ala569Ser) indel not provided [RCV003555142] Chr4:6301500..6301501 [GRCh38]
Chr4:6303227..6303228 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2048T>G (p.Met683Arg) single nucleotide variant not provided [RCV003555143] Chr4:6301843 [GRCh38]
Chr4:6303570 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs) insertion Cataract 41 [RCV005036883]|not provided [RCV003555146] Chr4:6302109..6302110 [GRCh38]
Chr4:6303836..6303837 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.1400T>G (p.Leu467Arg) single nucleotide variant not provided [RCV003567960] Chr4:6301195 [GRCh38]
Chr4:6302922 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1502T>A (p.Val501Asp) single nucleotide variant not provided [RCV003682961] Chr4:6301297 [GRCh38]
Chr4:6303024 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1587C>G (p.Cys529Trp) single nucleotide variant not provided [RCV003678686] Chr4:6301382 [GRCh38]
Chr4:6303109 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.427A>G (p.Lys143Glu) single nucleotide variant not provided [RCV003678797] Chr4:6289098 [GRCh38]
Chr4:6290825 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2546A>C (p.Asn849Thr) single nucleotide variant not provided [RCV003682986] Chr4:6302341 [GRCh38]
Chr4:6304068 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1228C>T (p.Leu410Phe) single nucleotide variant not provided [RCV003858020] Chr4:6301023 [GRCh38]
Chr4:6302750 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1367G>T (p.Arg456Leu) single nucleotide variant not provided [RCV003857070] Chr4:6301162 [GRCh38]
Chr4:6302889 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1856C>T (p.Ser619Phe) single nucleotide variant not provided [RCV003677478] Chr4:6301651 [GRCh38]
Chr4:6303378 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1394C>G (p.Ala465Gly) single nucleotide variant not provided [RCV003677384] Chr4:6301189 [GRCh38]
Chr4:6302916 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2273A>T (p.Lys758Met) single nucleotide variant not provided [RCV003868094] Chr4:6302068 [GRCh38]
Chr4:6303795 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1699_1704dup (p.Phe568_Ala569insLeuPhe) duplication not provided [RCV003684810] Chr4:6301493..6301494 [GRCh38]
Chr4:6303220..6303221 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_006005.3(WFS1):c.1787A>G (p.Lys596Arg) single nucleotide variant not provided [RCV003872004] Chr4:6301582 [GRCh38]
Chr4:6303309 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1333CTGAGC[1] (p.445LS[1]) microsatellite not provided [RCV003681807] Chr4:6301127..6301132 [GRCh38]
Chr4:6302854..6302859 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.*9C>T single nucleotide variant WFS1-related disorder [RCV004532146] Chr4:6302477 [GRCh38]
Chr4:6304204 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1148G>C (p.Arg383Pro) single nucleotide variant not provided [RCV003684031] Chr4:6300943 [GRCh38]
Chr4:6302670 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_006005.3(WFS1):c.461-18C>G single nucleotide variant not provided [RCV003853254] Chr4:6291179 [GRCh38]
Chr4:6292906 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.631+20G>A single nucleotide variant not provided [RCV003676044] Chr4:6291387 [GRCh38]
Chr4:6293114 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1217C>A (p.Ala406Asp) single nucleotide variant WFS1-related disorder [RCV004544196] Chr4:6301012 [GRCh38]
Chr4:6302739 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.929C>T (p.Ala310Val) single nucleotide variant Cataract 41 [RCV005038625]|WFS1-related disorder [RCV004539217] Chr4:6300724 [GRCh38]
Chr4:6302451 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1975G>T (p.Val659Phe) single nucleotide variant Wolfram syndrome 1 [RCV003990824] Chr4:6301770 [GRCh38]
Chr4:6303497 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1118A>G (p.Asn373Ser) single nucleotide variant Inborn genetic diseases [RCV004482923] Chr4:6300913 [GRCh38]
Chr4:6302640 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1211C>G (p.Pro404Arg) single nucleotide variant Inborn genetic diseases [RCV004482924] Chr4:6301006 [GRCh38]
Chr4:6302733 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.949A>C (p.Thr317Pro) single nucleotide variant Optic atrophy [RCV004817533] Chr4:6300744 [GRCh38]
Chr4:6302471 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2056A>G (p.Thr686Ala) single nucleotide variant not provided [RCV004795034] Chr4:6301851 [GRCh38]
Chr4:6303578 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1485C>G (p.His495Gln) single nucleotide variant Wolfram syndrome 1 [RCV004790059] Chr4:6301280 [GRCh38]
Chr4:6303007 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1441C>G (p.Leu481Val) single nucleotide variant not provided [RCV004763010]   uncertain significance
NM_006005.3(WFS1):c.2257G>A (p.Glu753Lys) single nucleotide variant not provided [RCV004769325] Chr4:6302052 [GRCh38]
Chr4:6303779 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2530G>A (p.Ala844Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004819969] Chr4:6302325 [GRCh38]
Chr4:6304052 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.768G>C (p.Lys256Asn) single nucleotide variant Inborn genetic diseases [RCV004967465] Chr4:6295096 [GRCh38]
Chr4:6296823 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2575C>G (p.Arg859Gly) single nucleotide variant Inborn genetic diseases [RCV004967466] Chr4:6302370 [GRCh38]
Chr4:6304097 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1029C>A (p.Phe343Leu) single nucleotide variant Inborn genetic diseases [RCV004967463] Chr4:6300824 [GRCh38]
Chr4:6302551 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1975G>A (p.Val659Ile) single nucleotide variant Inborn genetic diseases [RCV004967462] Chr4:6301770 [GRCh38]
Chr4:6303497 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1088A>G (p.Lys363Arg) single nucleotide variant Cataract 41 [RCV005027410] Chr4:6300883 [GRCh38]
Chr4:6302610 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1348C>T (p.His450Tyr) single nucleotide variant Cataract 41 [RCV005027414] Chr4:6301143 [GRCh38]
Chr4:6302870 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1451T>C (p.Leu484Pro) single nucleotide variant Cataract 41 [RCV005027419] Chr4:6301246 [GRCh38]
Chr4:6302973 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1500_1501insAGCGTCCCGTGCCTGTCGGCCACCTGGTCGTCCTCAAT (p.Val501fs) insertion Cataract 41 [RCV005027421] Chr4:6301295..6301296 [GRCh38]
Chr4:6303022..6303023 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2545A>C (p.Asn849His) single nucleotide variant Cataract 41 [RCV005040875] Chr4:6302340 [GRCh38]
Chr4:6304067 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.526G>A (p.Val176Met) single nucleotide variant Inborn genetic diseases [RCV004967461] Chr4:6291262 [GRCh38]
Chr4:6292989 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2538C>A (p.Ser846Arg) single nucleotide variant Inborn genetic diseases [RCV004967464] Chr4:6302333 [GRCh38]
Chr4:6304060 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2110T>C (p.Phe704Leu) single nucleotide variant Inborn genetic diseases [RCV004967468] Chr4:6301905 [GRCh38]
Chr4:6303632 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1486C>A (p.Leu496Met) single nucleotide variant not provided [RCV005136576] Chr4:6301281 [GRCh38]
Chr4:6303008 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1789A>G (p.Ile597Val) single nucleotide variant Cataract 41 [RCV005039199] Chr4:6301584 [GRCh38]
Chr4:6303311 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1831_1832delinsGA (p.Arg611Asp) indel Cataract 41 [RCV005039200] Chr4:6301626..6301627 [GRCh38]
Chr4:6303353..6303354 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.305C>T (p.Ala102Val) single nucleotide variant not provided [RCV005112119] Chr4:6287165 [GRCh38]
Chr4:6288892 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1273G>C (p.Asp425His) single nucleotide variant not provided [RCV005112123] Chr4:6301068 [GRCh38]
Chr4:6302795 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2362G>T (p.Asp788Tyr) single nucleotide variant not provided [RCV005112134] Chr4:6302157 [GRCh38]
Chr4:6303884 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.177C>T (p.Ala59=) single nucleotide variant not provided [RCV005130596] Chr4:6277632 [GRCh38]
Chr4:6279359 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2395A>C (p.Thr799Pro) single nucleotide variant Cataract 41 [RCV005039224] Chr4:6302190 [GRCh38]
Chr4:6303917 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2545A>G (p.Asn849Asp) single nucleotide variant not provided [RCV003729786] Chr4:6302340 [GRCh38]
Chr4:6304067 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1713C>G (p.Pro571=) single nucleotide variant not provided [RCV003554723] Chr4:6301508 [GRCh38]
Chr4:6303235 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.21G>A (p.Pro7=) single nucleotide variant not provided [RCV003730806] Chr4:6277476 [GRCh38]
Chr4:6279203 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.483G>T (p.Arg161=) single nucleotide variant not provided [RCV003680226] Chr4:6291219 [GRCh38]
Chr4:6292946 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1926C>T (p.Ala642=) single nucleotide variant not provided [RCV003729456] Chr4:6301721 [GRCh38]
Chr4:6303448 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1546T>C (p.Phe516Leu) single nucleotide variant not provided [RCV003675090] Chr4:6301341 [GRCh38]
Chr4:6303068 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1608G>A (p.Val536=) single nucleotide variant not provided [RCV003553716] Chr4:6301403 [GRCh38]
Chr4:6303130 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1574A>G (p.Lys525Arg) single nucleotide variant not provided [RCV003677741] Chr4:6301369 [GRCh38]
Chr4:6303096 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.125G>T (p.Arg42Leu) single nucleotide variant not provided [RCV003841645] Chr4:6277580 [GRCh38]
Chr4:6279307 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.57_64dup (p.Gln22fs) duplication not provided [RCV003679609] Chr4:6277509..6277510 [GRCh38]
Chr4:6279236..6279237 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1872G>A (p.Val624=) single nucleotide variant not provided [RCV003563250] Chr4:6301667 [GRCh38]
Chr4:6303394 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2533A>T (p.Ile845Phe) single nucleotide variant not provided [RCV003553356] Chr4:6302328 [GRCh38]
Chr4:6304055 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2100G>C (p.Trp700Cys) single nucleotide variant not provided [RCV003865155] Chr4:6301895 [GRCh38]
Chr4:6303622 [GRCh37]
Chr4:4p16.1		 pathogenic|likely pathogenic
NM_006005.3(WFS1):c.925A>C (p.Arg309=) single nucleotide variant not provided [RCV003737180] Chr4:6300720 [GRCh38]
Chr4:6302447 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.476A>G (p.Asn159Ser) single nucleotide variant WFS1-related disorder [RCV004532242] Chr4:6291212 [GRCh38]
Chr4:6292939 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1110C>G (p.Ala370=) single nucleotide variant not provided [RCV003719360] Chr4:6300905 [GRCh38]
Chr4:6302632 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2585_2587del (p.Lys862del) deletion not provided [RCV003682819] Chr4:6302378..6302380 [GRCh38]
Chr4:6304105..6304107 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2057C>T (p.Thr686Ile) single nucleotide variant Cataract 41 [RCV005040580]|not provided [RCV003867927] Chr4:6301852 [GRCh38]
Chr4:6303579 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_006005.3(WFS1):c.2288A>G (p.His763Arg) single nucleotide variant not provided [RCV003866557] Chr4:6302083 [GRCh38]
Chr4:6303810 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+22_631+38del deletion not provided [RCV003555161] Chr4:6291381..6291397 [GRCh38]
Chr4:6293108..6293124 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2206G>C (p.Gly736Arg) single nucleotide variant not provided [RCV003555145] Chr4:6302001 [GRCh38]
Chr4:6303728 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.147CCCTGG[3] (p.Gly53_Val54insProGly) microsatellite Cataract 41 [RCV005036986]|not provided [RCV003732749] Chr4:6277597..6277598 [GRCh38]
Chr4:6279324..6279325 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.960C>T (p.Pro320=) single nucleotide variant not provided [RCV003557191] Chr4:6300755 [GRCh38]
Chr4:6302482 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.285C>A (p.Ala95=) single nucleotide variant not provided [RCV003868261] Chr4:6287145 [GRCh38]
Chr4:6288872 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.906C>T (p.Tyr302=) single nucleotide variant WFS1-related disorder [RCV004534521] Chr4:6300701 [GRCh38]
Chr4:6302428 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1938C>T (p.Phe646=) single nucleotide variant not provided [RCV003719763] Chr4:6301733 [GRCh38]
Chr4:6303460 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2249C>T (p.Ala750Val) single nucleotide variant not provided [RCV003721551] Chr4:6302044 [GRCh38]
Chr4:6303771 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1101C>G (p.Asp367Glu) single nucleotide variant Inborn genetic diseases [RCV004676258]|not provided [RCV003721829] Chr4:6300896 [GRCh38]
Chr4:6302623 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1014C>A (p.Ile338=) single nucleotide variant Cataract 41 [RCV005030245]|not provided [RCV003727246] Chr4:6300809 [GRCh38]
Chr4:6302536 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
NM_006005.3(WFS1):c.124C>G (p.Arg42Gly) single nucleotide variant not provided [RCV003723244] Chr4:6277579 [GRCh38]
Chr4:6279306 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2275C>T (p.Leu759=) single nucleotide variant not provided [RCV003861837] Chr4:6302070 [GRCh38]
Chr4:6303797 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.122C>A (p.Pro41His) single nucleotide variant Cataract 41 [RCV005036961]|not provided [RCV003722053] Chr4:6277577 [GRCh38]
Chr4:6279304 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1657G>T (p.Gly553Cys) single nucleotide variant not provided [RCV003554798] Chr4:6301452 [GRCh38]
Chr4:6303179 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.960del (p.Thr321fs) deletion not provided [RCV003684625] Chr4:6300752 [GRCh38]
Chr4:6302479 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2195_2217dup (p.Pro740fs) duplication not provided [RCV003551005] Chr4:6301988..6301989 [GRCh38]
Chr4:6303715..6303716 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2652C>G (p.Phe884Leu) single nucleotide variant not provided [RCV003681974] Chr4:6302447 [GRCh38]
Chr4:6304174 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2013G>T (p.Ala671=) single nucleotide variant not provided [RCV003736405] Chr4:6301808 [GRCh38]
Chr4:6303535 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.57G>C (p.Pro19=) single nucleotide variant not provided [RCV003736444] Chr4:6277512 [GRCh38]
Chr4:6279239 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2084G>A (p.Gly695Asp) single nucleotide variant not provided [RCV003675715] Chr4:6301879 [GRCh38]
Chr4:6303606 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2339G>A (p.Gly780Asp) single nucleotide variant not provided [RCV003565958] Chr4:6302134 [GRCh38]
Chr4:6303861 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2144G>A (p.Ser715Asn) single nucleotide variant not provided [RCV003681328] Chr4:6301939 [GRCh38]
Chr4:6303666 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+3G>A single nucleotide variant not provided [RCV003729501] Chr4:6291370 [GRCh38]
Chr4:6293097 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.702C>T (p.Val234=) single nucleotide variant not provided [RCV003735703] Chr4:6291987 [GRCh38]
Chr4:6293714 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1686C>G (p.Gly562=) single nucleotide variant not provided [RCV003860716] Chr4:6301481 [GRCh38]
Chr4:6303208 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2368_2391del (p.Ser790_Asp797del) deletion not provided [RCV003683052] Chr4:6302162..6302185 [GRCh38]
Chr4:6303889..6303912 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.273C>T (p.Val91=) single nucleotide variant not provided [RCV003706390] Chr4:6287133 [GRCh38]
Chr4:6288860 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2121C>A (p.Val707=) single nucleotide variant not provided [RCV003551554] Chr4:6301916 [GRCh38]
Chr4:6303643 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.573G>T (p.Lys191Asn) single nucleotide variant not provided [RCV003709496] Chr4:6291309 [GRCh38]
Chr4:6293036 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1831C>G (p.Arg611Gly) single nucleotide variant not provided [RCV003706585] Chr4:6301626 [GRCh38]
Chr4:6303353 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2589C>G (p.Ile863Met) single nucleotide variant not provided [RCV003553347] Chr4:6302384 [GRCh38]
Chr4:6304111 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1719G>A (p.Leu573=) single nucleotide variant not provided [RCV003680253] Chr4:6301514 [GRCh38]
Chr4:6303241 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1608G>C (p.Val536=) single nucleotide variant not provided [RCV003678509] Chr4:6301403 [GRCh38]
Chr4:6303130 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.58C>T (p.Gln20Ter) single nucleotide variant not provided [RCV003819796] Chr4:6277513 [GRCh38]
Chr4:6279240 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.708C>T (p.Ser236=) single nucleotide variant Cataract 41 [RCV005037014]|not provided [RCV003729828] Chr4:6291993 [GRCh38]
Chr4:6293720 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.460+9G>A single nucleotide variant not provided [RCV003818702] Chr4:6289140 [GRCh38]
Chr4:6290867 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.180C>T (p.Pro60=) single nucleotide variant not provided [RCV003568161] Chr4:6277635 [GRCh38]
Chr4:6279362 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1182G>A (p.Glu394=) single nucleotide variant not provided [RCV003845147] Chr4:6300977 [GRCh38]
Chr4:6302704 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.958_961delinsTCC (p.Pro320fs) indel not provided [RCV003680618] Chr4:6300753..6300756 [GRCh38]
Chr4:6302480..6302483 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1132A>T (p.Thr378Ser) single nucleotide variant not provided [RCV003822781] Chr4:6300927 [GRCh38]
Chr4:6302654 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2417C>T (p.Ala806Val) single nucleotide variant not provided [RCV003731516] Chr4:6302212 [GRCh38]
Chr4:6303939 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2536A>G (p.Ser846Gly) single nucleotide variant Cataract 41 [RCV005037013]|not provided [RCV003734548] Chr4:6302331 [GRCh38]
Chr4:6304058 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.874C>T (p.Pro292Ser) single nucleotide variant Wolfram syndrome 1 [RCV004789989] Chr4:6300669 [GRCh38]
Chr4:6302396 [GRCh37]
Chr4:4p16.1		 likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_006005.3(WFS1):c.2033G>A (p.Trp678Ter) single nucleotide variant WFS1-related disorder [RCV004534460] Chr4:6301828 [GRCh38]
Chr4:6303555 [GRCh37]
Chr4:4p16.1		 pathogenic
NC_000004.12:g.6269836T>A single nucleotide variant WFS1-related disorder [RCV004536977] Chr4:6269836 [GRCh38]
Chr4:6271563 [GRCh37]
Chr4:4p16.1		 likely benign
NC_000004.12:g.6269848T>A single nucleotide variant WFS1-related disorder [RCV004536917] Chr4:6269848 [GRCh38]
Chr4:6271575 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1218C>T (p.Ala406=) single nucleotide variant WFS1-related disorder [RCV004542324] Chr4:6301013 [GRCh38]
Chr4:6302740 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1104_1105insT (p.Lys369Ter) insertion Wolfram syndrome 1 [RCV004560392] Chr4:6300899..6300900 [GRCh38]
Chr4:6302626..6302627 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1405T>C (p.Ser469Pro) single nucleotide variant not provided [RCV004588710] Chr4:6301200 [GRCh38]
Chr4:6302927 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1102A>G (p.Ser368Gly) single nucleotide variant Inborn genetic diseases [RCV004482922] Chr4:6300897 [GRCh38]
Chr4:6302624 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1379C>T (p.Ala460Val) single nucleotide variant Inborn genetic diseases [RCV004482926] Chr4:6301174 [GRCh38]
Chr4:6302901 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1793C>T (p.Ala598Val) single nucleotide variant Inborn genetic diseases [RCV004482928]|not provided [RCV005104772] Chr4:6301588 [GRCh38]
Chr4:6303315 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.44C>A (p.Pro15His) single nucleotide variant Inborn genetic diseases [RCV004482929] Chr4:6277499 [GRCh38]
Chr4:6279226 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.886A>G (p.Ile296Val) single nucleotide variant Inborn genetic diseases [RCV004482930] Chr4:6300681 [GRCh38]
Chr4:6302408 [GRCh37]
Chr4:4p16.1		 uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NC_000004.11:g.(?_6288800)_(6304195_?)del deletion not provided [RCV004580848] Chr4:6288800..6304195 [GRCh37]
Chr4:4p16.1		 pathogenic
NC_000004.11:g.(?_6288800)_(6293114_?)del deletion not provided [RCV004580847] Chr4:6288800..6293114 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2141A>T (p.Asn714Ile) single nucleotide variant not provided [RCV004590671] Chr4:6301936 [GRCh38]
Chr4:6303663 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2593C>G (p.His865Asp) single nucleotide variant Inborn genetic diseases [RCV004678464] Chr4:6302388 [GRCh38]
Chr4:6304115 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1654A>T (p.Thr552Ser) single nucleotide variant Inborn genetic diseases [RCV004678465] Chr4:6301449 [GRCh38]
Chr4:6303176 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2266C>G (p.Arg756Gly) single nucleotide variant Wolfram syndrome 1 [RCV004698407] Chr4:6302061 [GRCh38]
Chr4:6303788 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2586G>C (p.Lys862Asn) single nucleotide variant Wolfram syndrome 1 [RCV004698408] Chr4:6302381 [GRCh38]
Chr4:6304108 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.985TTC[2] (p.Phe331del) microsatellite not provided [RCV004762703]   uncertain significance
NM_006005.3(WFS1):c.2003A>C (p.Gln668Pro) single nucleotide variant not provided [RCV004723756] Chr4:6301798 [GRCh38]
Chr4:6303525 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.869A>C (p.Lys290Thr) single nucleotide variant not provided [RCV004725810] Chr4:6300664 [GRCh38]
Chr4:6302391 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.333G>A (p.Leu111=) single nucleotide variant not provided [RCV004724059] Chr4:6289004 [GRCh38]
Chr4:6290731 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1598C>T (p.Pro533Leu) single nucleotide variant Wolfram syndrome 1 [RCV004699158] Chr4:6301393 [GRCh38]
Chr4:6303120 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.682C>T (p.Arg228Cys) single nucleotide variant Optic atrophy [RCV004817597]|not provided [RCV004791694] Chr4:6291967 [GRCh38]
Chr4:6293694 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.740_741del (p.Phe247fs) deletion Wolfram syndrome 1 [RCV004787189] Chr4:6295067..6295068 [GRCh38]
Chr4:6296794..6296795 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1307C>G (p.Thr436Ser) single nucleotide variant not provided [RCV004769290] Chr4:6301102 [GRCh38]
Chr4:6302829 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2410C>T (p.Leu804=) single nucleotide variant WFS1-related disorder [RCV004736763] Chr4:6302205 [GRCh38]
Chr4:6303932 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2617G>A (p.Gly873Ser) single nucleotide variant not provided [RCV004727748] Chr4:6302412 [GRCh38]
Chr4:6304139 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.381G>C (p.Val127=) single nucleotide variant not specified [RCV004766908] Chr4:6289052 [GRCh38]
Chr4:6290779 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.655G>A (p.Val219Met) single nucleotide variant not provided [RCV004762461]   uncertain significance
NM_006005.3(WFS1):c.2286G>T (p.Lys762Asn) single nucleotide variant not provided [RCV004798195] Chr4:6302081 [GRCh38]
Chr4:6303808 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2503A>T (p.Ser835Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 6 [RCV004788391] Chr4:6302298 [GRCh38]
Chr4:6304025 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1005C>A (p.Asn335Lys) single nucleotide variant not provided [RCV004775040] Chr4:6300800 [GRCh38]
Chr4:6302527 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1141C>T (p.Leu381=) single nucleotide variant not provided [RCV004760114]   uncertain significance
NM_006005.3(WFS1):c.970A>G (p.Ile324Val) single nucleotide variant Cataract 41 [RCV005038825]|not provided [RCV004768139] Chr4:6300765 [GRCh38]
Chr4:6302492 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2344C>A (p.Pro782Thr) single nucleotide variant not provided [RCV004771265] Chr4:6302139 [GRCh38]
Chr4:6303866 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.913G>T (p.Asp305Tyr) single nucleotide variant not provided [RCV004768002] Chr4:6300708 [GRCh38]
Chr4:6302435 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2378G>C (p.Arg793Pro) single nucleotide variant not provided [RCV004702108] Chr4:6302173 [GRCh38]
Chr4:6303900 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1504_1527dup (p.Val509_Tyr510insSerValProCysLeuLeuTyrVal) duplication WFS1-related disorder [RCV004730061] Chr4:6301295..6301296 [GRCh38]
Chr4:6303022..6303023 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2605_2616dup (p.His872_Gly873insSerThrValHis) duplication Autosomal dominant nonsyndromic hearing loss 6 [RCV005052960] Chr4:6302399..6302400 [GRCh38]
Chr4:6304126..6304127 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2503A>G (p.Ser835Gly) single nucleotide variant not provided [RCV005052578] Chr4:6302298 [GRCh38]
Chr4:6304025 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.11A>G (p.Asn4Ser) single nucleotide variant Cataract 41 [RCV005027405] Chr4:6277466 [GRCh38]
Chr4:6279193 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1027_1028delinsGC (p.Phe343Ala) indel Cataract 41 [RCV005027407]|not provided [RCV005112851] Chr4:6300822..6300823 [GRCh38]
Chr4:6302549..6302550 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1042G>A (p.Val348Ile) single nucleotide variant Cataract 41 [RCV005027408] Chr4:6300837 [GRCh38]
Chr4:6302564 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1357C>T (p.Pro453Ser) single nucleotide variant Cataract 41 [RCV005027416] Chr4:6301152 [GRCh38]
Chr4:6302879 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1405T>A (p.Ser469Thr) single nucleotide variant Cataract 41 [RCV005027418] Chr4:6301200 [GRCh38]
Chr4:6302927 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1580C>G (p.Thr527Ser) single nucleotide variant Cataract 41 [RCV005027422] Chr4:6301375 [GRCh38]
Chr4:6303102 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1777G>A (p.Glu593Lys) single nucleotide variant Cataract 41 [RCV005040866] Chr4:6301572 [GRCh38]
Chr4:6303299 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1852T>C (p.Phe618Leu) single nucleotide variant Cataract 41 [RCV005040871] Chr4:6301647 [GRCh38]
Chr4:6303374 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2482A>C (p.Ile828Leu) single nucleotide variant Inborn genetic diseases [RCV004967467] Chr4:6302277 [GRCh38]
Chr4:6304004 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3 copy number gain not provided [RCV004819301] Chr4:68346..16744084 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_006005.3(WFS1):c.2321dup (p.Phe775fs) duplication Cataract 41 [RCV005040873] Chr4:6302114..6302115 [GRCh38]
Chr4:6303841..6303842 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1264G>C (p.Ala422Pro) single nucleotide variant Cataract 41 [RCV005027413] Chr4:6301059 [GRCh38]
Chr4:6302786 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1500C>G (p.Asn500Lys) single nucleotide variant Cataract 41 [RCV005027420] Chr4:6301295 [GRCh38]
Chr4:6303022 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2062A>T (p.Ile688Phe) single nucleotide variant Wolfram syndrome 1 [RCV004821214] Chr4:6301857 [GRCh38]
Chr4:6303584 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1355_1370del (p.Glu452fs) deletion Cataract 41 [RCV005027415] Chr4:6301146..6301161 [GRCh38]
Chr4:6302873..6302888 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1810T>C (p.Cys604Arg) single nucleotide variant Cataract 41 [RCV005040868] Chr4:6301605 [GRCh38]
Chr4:6303332 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1828T>G (p.Leu610Val) single nucleotide variant Cataract 41 [RCV005040869] Chr4:6301623 [GRCh38]
Chr4:6303350 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1850G>C (p.Ser617Thr) single nucleotide variant Cataract 41 [RCV005040870] Chr4:6301645 [GRCh38]
Chr4:6303372 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr) single nucleotide variant Cataract 41 [RCV005040872] Chr4:6301864 [GRCh38]
Chr4:6303591 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2564C>T (p.Ser855Leu) single nucleotide variant Cataract 41 [RCV005040876] Chr4:6302359 [GRCh38]
Chr4:6304086 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1249T>A (p.Phe417Ile) single nucleotide variant Cataract 41 [RCV005027412] Chr4:6301044 [GRCh38]
Chr4:6302771 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1399C>G (p.Leu467Val) single nucleotide variant Cataract 41 [RCV005027417] Chr4:6301194 [GRCh38]
Chr4:6302921 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.631+1G>A single nucleotide variant not provided [RCV005001569] Chr4:6291368 [GRCh38]
Chr4:6293095 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.694C>T (p.Arg232Cys) single nucleotide variant not provided [RCV005125393] Chr4:6291979 [GRCh38]
Chr4:6293706 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1469C>T (p.Thr490Ile) single nucleotide variant not provided [RCV005067631] Chr4:6301264 [GRCh38]
Chr4:6302991 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1368C>T (p.Arg456=) single nucleotide variant not provided [RCV005137289] Chr4:6301163 [GRCh38]
Chr4:6302890 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1186A>C (p.Asn396His) single nucleotide variant not provided [RCV005141865] Chr4:6300981 [GRCh38]
Chr4:6302708 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2433G>C (p.Lys811Asn) single nucleotide variant not provided [RCV005141936] Chr4:6302228 [GRCh38]
Chr4:6303955 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2608A>C (p.Thr870Pro) single nucleotide variant Cataract 41 [RCV005039231] Chr4:6302403 [GRCh38]
Chr4:6304130 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.619G>T (p.Val207Phe) single nucleotide variant not provided [RCV005066055] Chr4:6291355 [GRCh38]
Chr4:6293082 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.711G>A (p.Glu237=) single nucleotide variant not specified [RCV005088580] Chr4:6291996 [GRCh38]
Chr4:6293723 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.713-3C>T single nucleotide variant not provided [RCV005127499] Chr4:6295038 [GRCh38]
Chr4:6296765 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1314C>T (p.Phe438=) single nucleotide variant not provided [RCV005129252] Chr4:6301109 [GRCh38]
Chr4:6302836 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2307G>C (p.Lys769Asn) single nucleotide variant not provided [RCV005084568] Chr4:6302102 [GRCh38]
Chr4:6303829 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1420A>C (p.Met474Leu) single nucleotide variant Cataract 41 [RCV005039190] Chr4:6301215 [GRCh38]
Chr4:6302942 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1538_1539dup (p.Leu514fs) duplication Cataract 41 [RCV005039191] Chr4:6301331..6301332 [GRCh38]
Chr4:6303058..6303059 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1540C>G (p.Leu514Val) single nucleotide variant Cataract 41 [RCV005039192] Chr4:6301335 [GRCh38]
Chr4:6303062 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1555G>A (p.Ala519Thr) single nucleotide variant Cataract 41 [RCV005039193] Chr4:6301350 [GRCh38]
Chr4:6303077 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1642C>G (p.Leu548Val) single nucleotide variant Cataract 41 [RCV005039195] Chr4:6301437 [GRCh38]
Chr4:6303164 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1759C>G (p.Arg587Gly) single nucleotide variant Cataract 41 [RCV005039196] Chr4:6301554 [GRCh38]
Chr4:6303281 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1760G>T (p.Arg587Leu) single nucleotide variant Cataract 41 [RCV005039197] Chr4:6301555 [GRCh38]
Chr4:6303282 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1778A>G (p.Glu593Gly) single nucleotide variant Cataract 41 [RCV005039198] Chr4:6301573 [GRCh38]
Chr4:6303300 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1846dup (p.Ala616fs) duplication Cataract 41 [RCV005039201] Chr4:6301639..6301640 [GRCh38]
Chr4:6303366..6303367 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1865G>T (p.Gly622Val) single nucleotide variant Cataract 41 [RCV005039202] Chr4:6301660 [GRCh38]
Chr4:6303387 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1729C>G (p.Leu577Val) single nucleotide variant not provided [RCV005112128] Chr4:6301524 [GRCh38]
Chr4:6303251 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1751A>G (p.Gln584Arg) single nucleotide variant not provided [RCV005112129] Chr4:6301546 [GRCh38]
Chr4:6303273 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2042C>A (p.Thr681Asn) single nucleotide variant not provided [RCV005112131] Chr4:6301837 [GRCh38]
Chr4:6303564 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2115G>T (p.Lys705Asn) single nucleotide variant not provided [RCV005112132] Chr4:6301910 [GRCh38]
Chr4:6303637 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2390A>C (p.Asp797Ala) single nucleotide variant not provided [RCV005112135] Chr4:6302185 [GRCh38]
Chr4:6303912 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2402A>G (p.Asp801Gly) single nucleotide variant not provided [RCV005112137] Chr4:6302197 [GRCh38]
Chr4:6303924 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.398C>T (p.Ala133Val) single nucleotide variant not provided [RCV005111132] Chr4:6289069 [GRCh38]
Chr4:6290796 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1652C>G (p.Ser551Cys) single nucleotide variant not provided [RCV005112127] Chr4:6301447 [GRCh38]
Chr4:6303174 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1988C>A (p.Thr663Lys) single nucleotide variant not provided [RCV005112130] Chr4:6301783 [GRCh38]
Chr4:6303510 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2400G>C (p.Lys800Asn) single nucleotide variant not provided [RCV005112136] Chr4:6302195 [GRCh38]
Chr4:6303922 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.801C>A (p.Asp267Glu) single nucleotide variant not provided [RCV005112120] Chr4:6295129 [GRCh38]
Chr4:6296856 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.758A>G (p.Lys253Arg) single nucleotide variant Cataract 41 [RCV005039184]|not provided [RCV005112850] Chr4:6295086 [GRCh38]
Chr4:6296813 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.803A>G (p.Asp268Gly) single nucleotide variant Cataract 41 [RCV005039185] Chr4:6295131 [GRCh38]
Chr4:6296858 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1002C>T (p.Ser334=) single nucleotide variant Cataract 41 [RCV005039186] Chr4:6300797 [GRCh38]
Chr4:6302524 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1021_1032del (p.Phe341_Phe344del) deletion Cataract 41 [RCV005039187] Chr4:6300812..6300823 [GRCh38]
Chr4:6302539..6302550 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1049T>G (p.Phe350Cys) single nucleotide variant Cataract 41 [RCV005039188] Chr4:6300844 [GRCh38]
Chr4:6302571 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1357C>G (p.Pro453Ala) single nucleotide variant Cataract 41 [RCV005039189]|not provided [RCV005063284] Chr4:6301152 [GRCh38]
Chr4:6302879 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1886G>T (p.Arg629Leu) single nucleotide variant Cataract 41 [RCV005039204] Chr4:6301681 [GRCh38]
Chr4:6303408 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1894A>G (p.Met632Val) single nucleotide variant Cataract 41 [RCV005039205] Chr4:6301689 [GRCh38]
Chr4:6303416 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1229T>G (p.Leu410Arg) single nucleotide variant not provided [RCV005112121] Chr4:6301024 [GRCh38]
Chr4:6302751 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1324A>G (p.Thr442Ala) single nucleotide variant not provided [RCV005112124] Chr4:6301119 [GRCh38]
Chr4:6302846 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1637T>C (p.Val546Ala) single nucleotide variant not provided [RCV005112126] Chr4:6301432 [GRCh38]
Chr4:6303159 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.682_684delinsTGG (p.Arg228Trp) indel Cataract 41 [RCV005039180] Chr4:6291967..6291969 [GRCh38]
Chr4:6293694..6293696 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2336T>G (p.Val779Gly) single nucleotide variant Cataract 41 [RCV005039222] Chr4:6302131 [GRCh38]
Chr4:6303858 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1522T>C (p.Tyr508His) single nucleotide variant not provided [RCV005112125] Chr4:6301317 [GRCh38]
Chr4:6303044 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2344C>G (p.Pro782Ala) single nucleotide variant not provided [RCV005112133] Chr4:6302139 [GRCh38]
Chr4:6303866 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1583A>T (p.Tyr528Phe) single nucleotide variant not provided [RCV005113020] Chr4:6301378 [GRCh38]
Chr4:6303105 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1998G>A (p.Trp666Ter) single nucleotide variant not provided [RCV005123206] Chr4:6301793 [GRCh38]
Chr4:6303520 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.712+6T>A single nucleotide variant Cataract 41 [RCV005039182] Chr4:6292003 [GRCh38]
Chr4:6293730 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.724A>C (p.Ile242Leu) single nucleotide variant Cataract 41 [RCV005039183] Chr4:6295052 [GRCh38]
Chr4:6296779 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2234G>C (p.Gly745Ala) single nucleotide variant Cataract 41 [RCV005039217] Chr4:6302029 [GRCh38]
Chr4:6303756 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2175C>A (p.Phe725Leu) single nucleotide variant Cataract 41 [RCV005039216] Chr4:6301970 [GRCh38]
Chr4:6303697 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.25G>C (p.Gly9Arg) single nucleotide variant Cataract 41 [RCV005039174] Chr4:6277480 [GRCh38]
Chr4:6279207 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.231C>G (p.Thr77=) single nucleotide variant Cataract 41 [RCV005039175] Chr4:6277686 [GRCh38]
Chr4:6279413 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.316-13G>A single nucleotide variant Cataract 41 [RCV005039176] Chr4:6288974 [GRCh38]
Chr4:6290701 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.335A>G (p.Gln112Arg) single nucleotide variant Cataract 41 [RCV005039177] Chr4:6289006 [GRCh38]
Chr4:6290733 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.547A>G (p.Met183Val) single nucleotide variant Cataract 41 [RCV005039178] Chr4:6291283 [GRCh38]
Chr4:6293010 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.618G>C (p.Gln206His) single nucleotide variant Cataract 41 [RCV005039179] Chr4:6291354 [GRCh38]
Chr4:6293081 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1954T>C (p.Tyr652His) single nucleotide variant Cataract 41 [RCV005039209] Chr4:6301749 [GRCh38]
Chr4:6303476 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1885C>G (p.Arg629Gly) single nucleotide variant Cataract 41 [RCV005039203] Chr4:6301680 [GRCh38]
Chr4:6303407 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1907T>C (p.Ile636Thr) single nucleotide variant Cataract 41 [RCV005039206] Chr4:6301702 [GRCh38]
Chr4:6303429 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1928T>C (p.Ile643Thr) single nucleotide variant Cataract 41 [RCV005039208] Chr4:6301723 [GRCh38]
Chr4:6303450 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1961C>T (p.Ser654Leu) single nucleotide variant Cataract 41 [RCV005039210] Chr4:6301756 [GRCh38]
Chr4:6303483 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1987A>G (p.Thr663Ala) single nucleotide variant Cataract 41 [RCV005039211] Chr4:6301782 [GRCh38]
Chr4:6303509 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1990_1991del (p.Leu664fs) deletion Cataract 41 [RCV005039212] Chr4:6301785..6301786 [GRCh38]
Chr4:6303512..6303513 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2009G>A (p.Gly670Asp) single nucleotide variant Cataract 41 [RCV005039213] Chr4:6301804 [GRCh38]
Chr4:6303531 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2432A>T (p.Lys811Met) single nucleotide variant Cataract 41 [RCV005039226] Chr4:6302227 [GRCh38]
Chr4:6303954 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2569A>C (p.Thr857Pro) single nucleotide variant Cataract 41 [RCV005039230] Chr4:6302364 [GRCh38]
Chr4:6304091 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2534T>C (p.Ile845Thr) single nucleotide variant Cataract 41 [RCV005039228] Chr4:6302329 [GRCh38]
Chr4:6304056 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2446A>C (p.Ser816Arg) single nucleotide variant Cataract 41 [RCV005039227] Chr4:6302241 [GRCh38]
Chr4:6303968 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2395A>T (p.Thr799Ser) single nucleotide variant Cataract 41 [RCV005039225] Chr4:6302190 [GRCh38]
Chr4:6303917 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2287C>T (p.His763Tyr) single nucleotide variant Cataract 41 [RCV005039220] Chr4:6302082 [GRCh38]
Chr4:6303809 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2254G>A (p.Glu752Lys) single nucleotide variant Cataract 41 [RCV005039219] Chr4:6302049 [GRCh38]
Chr4:6303776 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.346G>A (p.Asp116Asn) single nucleotide variant not provided [RCV005146677] Chr4:6289017 [GRCh38]
Chr4:6290744 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.408G>A (p.Gln136=) single nucleotide variant not provided [RCV005200347] Chr4:6289079 [GRCh38]
Chr4:6290806 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1977C>T (p.Val659=) single nucleotide variant not provided [RCV005078519] Chr4:6301772 [GRCh38]
Chr4:6303499 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2555C>T (p.Ala852Val) single nucleotide variant not provided [RCV005167385] Chr4:6302350 [GRCh38]
Chr4:6304077 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.212G>T (p.Arg71Leu) single nucleotide variant not provided [RCV005176950] Chr4:6277667 [GRCh38]
Chr4:6279394 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.460+7C>A single nucleotide variant not provided [RCV005079499] Chr4:6289138 [GRCh38]
Chr4:6290865 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2529_2546del (p.Lys843_Leu848del) deletion Neurodevelopmental abnormality [RCV005233273] Chr4:6302319..6302336 [GRCh38]
Chr4:6304046..6304063 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.460+4G>A single nucleotide variant not provided [RCV005082851] Chr4:6289135 [GRCh38]
Chr4:6290862 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1594G>T (p.Val532Leu) single nucleotide variant not provided [RCV005144813] Chr4:6301389 [GRCh38]
Chr4:6303116 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.583G>A (p.Val195Met) single nucleotide variant not provided [RCV005080033] Chr4:6291319 [GRCh38]
Chr4:6293046 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.106G>C (p.Glu36Gln) single nucleotide variant not provided [RCV005197132] Chr4:6277561 [GRCh38]
Chr4:6279288 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2673A>C (p.Ter891Cys) single nucleotide variant not provided [RCV005197477] Chr4:6302468 [GRCh38]
Chr4:6304195 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.897C>T (p.Ile299=) single nucleotide variant not provided [RCV005079471] Chr4:6300692 [GRCh38]
Chr4:6302419 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.660C>A (p.Pro220=) single nucleotide variant not provided [RCV005081970] Chr4:6291945 [GRCh38]
Chr4:6293672 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1755C>A (p.Phe585Leu) single nucleotide variant not provided [RCV005156623] Chr4:6301550 [GRCh38]
Chr4:6303277 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1902G>A (p.Lys634=) single nucleotide variant not provided [RCV005191310] Chr4:6301697 [GRCh38]
Chr4:6303424 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.911T>C (p.Ile304Thr) single nucleotide variant not provided [RCV005191688] Chr4:6300706 [GRCh38]
Chr4:6302433 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.861+1G>A single nucleotide variant not provided [RCV005200436] Chr4:6295190 [GRCh38]
Chr4:6296917 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2205C>A (p.Tyr735Ter) single nucleotide variant not provided [RCV005200440] Chr4:6302000 [GRCh38]
Chr4:6303727 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1437C>T (p.Pro479=) single nucleotide variant not provided [RCV005072000] Chr4:6301232 [GRCh38]
Chr4:6302959 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1551C>T (p.Arg517=) single nucleotide variant not provided [RCV005159576] Chr4:6301346 [GRCh38]
Chr4:6303073 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.292G>A (p.Gly98Arg) single nucleotide variant not provided [RCV005174379] Chr4:6287152 [GRCh38]
Chr4:6288879 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.713-10C>T single nucleotide variant not provided [RCV005175329] Chr4:6295031 [GRCh38]
Chr4:6296758 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.207G>A (p.Arg69=) single nucleotide variant not provided [RCV005162395] Chr4:6277662 [GRCh38]
Chr4:6279389 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1353A>G (p.Ala451=) single nucleotide variant not provided [RCV005144368] Chr4:6301148 [GRCh38]
Chr4:6302875 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1273G>A (p.Asp425Asn) single nucleotide variant not provided [RCV005159701] Chr4:6301068 [GRCh38]
Chr4:6302795 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.993C>T (p.Phe331=) single nucleotide variant not provided [RCV005153913] Chr4:6300788 [GRCh38]
Chr4:6302515 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1048T>A (p.Phe350Ile) single nucleotide variant not provided [RCV005199966] Chr4:6300843 [GRCh38]
Chr4:6302570 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.128C>A (p.Ala43Glu) single nucleotide variant not provided [RCV005207449] Chr4:6277583 [GRCh38]
Chr4:6279310 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.300C>T (p.Pro100=) single nucleotide variant not provided [RCV005179296] Chr4:6287160 [GRCh38]
Chr4:6288887 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1806G>C (p.Ala602=) single nucleotide variant not provided [RCV005184881] Chr4:6301601 [GRCh38]
Chr4:6303328 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1101C>T (p.Asp367=) single nucleotide variant not provided [RCV005151318] Chr4:6300896 [GRCh38]
Chr4:6302623 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.460+16G>T single nucleotide variant not provided [RCV005071488] Chr4:6289147 [GRCh38]
Chr4:6290874 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1381A>T (p.Thr461Ser) single nucleotide variant not provided [RCV005184245] Chr4:6301176 [GRCh38]
Chr4:6302903 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1714_1731del (p.Ile572_Leu577del) deletion not provided [RCV005195746] Chr4:6301509..6301526 [GRCh38]
Chr4:6303236..6303253 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2613G>C (p.Val871=) single nucleotide variant not provided [RCV005155028] Chr4:6302408 [GRCh38]
Chr4:6304135 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2095A>C (p.Thr699Pro) single nucleotide variant Wolfram syndrome 1 [RCV005234890] Chr4:6301890 [GRCh38]
Chr4:6303617 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.2476A>G (p.Ser826Gly) single nucleotide variant not provided [RCV005163746] Chr4:6302271 [GRCh38]
Chr4:6303998 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1383C>G (p.Thr461=) single nucleotide variant not provided [RCV005165120] Chr4:6301178 [GRCh38]
Chr4:6302905 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.863T>G (p.Val288Gly) single nucleotide variant Wolfram syndrome 1 [RCV005233214] Chr4:6300658 [GRCh38]
Chr4:6302385 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_006005.3(WFS1):c.1602C>T (p.Tyr534=) single nucleotide variant not provided [RCV005154000] Chr4:6301397 [GRCh38]
Chr4:6303124 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.854G>T (p.Arg285Leu) single nucleotide variant not provided [RCV005244707] Chr4:6295182 [GRCh38]
Chr4:6296909 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.712+681C>T single nucleotide variant not provided [RCV005241871] Chr4:6292678 [GRCh38]
Chr4:6294405 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1915T>G (p.Trp639Gly) single nucleotide variant not provided [RCV005200438] Chr4:6301710 [GRCh38]
Chr4:6303437 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1792_1793delinsAG (p.Ala598Arg) indel not provided [RCV005206351] Chr4:6301587..6301588 [GRCh38]
Chr4:6303314..6303315 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.820C>T (p.Leu274=) single nucleotide variant not provided [RCV005207783] Chr4:6295148 [GRCh38]
Chr4:6296875 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1641C>T (p.Ile547=) single nucleotide variant not provided [RCV005165010] Chr4:6301436 [GRCh38]
Chr4:6303163 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2020G>T (p.Gly674Trp) single nucleotide variant not provided [RCV005081753] Chr4:6301815 [GRCh38]
Chr4:6303542 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.406C>T (p.Gln136Ter) single nucleotide variant not provided [RCV005200435] Chr4:6289077 [GRCh38]
Chr4:6290804 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.2491G>A (p.Gly831Ser) single nucleotide variant not provided [RCV005200442] Chr4:6302286 [GRCh38]
Chr4:6304013 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1742G>A (p.Gly581Asp) single nucleotide variant not provided [RCV005157358] Chr4:6301537 [GRCh38]
Chr4:6303264 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.978G>C (p.Ala326=) single nucleotide variant not provided [RCV005158416] Chr4:6300773 [GRCh38]
Chr4:6302500 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2456A>G (p.Gln819Arg) single nucleotide variant not provided [RCV005187698] Chr4:6302251 [GRCh38]
Chr4:6303978 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1065C>G (p.Ile355Met) single nucleotide variant not provided [RCV005078691] Chr4:6300860 [GRCh38]
Chr4:6302587 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.451G>A (p.Asp151Asn) single nucleotide variant not provided [RCV005068496] Chr4:6289122 [GRCh38]
Chr4:6290849 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.665C>T (p.Ser222Phe) single nucleotide variant not provided [RCV005070361] Chr4:6291950 [GRCh38]
Chr4:6293677 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1533G>C (p.Leu511=) single nucleotide variant not provided [RCV005160287] Chr4:6301328 [GRCh38]
Chr4:6303055 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.2616T>C (p.His872=) single nucleotide variant not provided [RCV005077781] Chr4:6302411 [GRCh38]
Chr4:6304138 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1070T>C (p.Met357Thr) single nucleotide variant not provided [RCV005153103] Chr4:6300865 [GRCh38]
Chr4:6302592 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.530G>T (p.Arg177Leu) single nucleotide variant not provided [RCV005183263] Chr4:6291266 [GRCh38]
Chr4:6292993 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2570C>G (p.Thr857Ser) single nucleotide variant not provided [RCV005149386] Chr4:6302365 [GRCh38]
Chr4:6304092 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1250T>C (p.Phe417Ser) single nucleotide variant not provided [RCV005154016] Chr4:6301045 [GRCh38]
Chr4:6302772 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2284A>T (p.Lys762Ter) single nucleotide variant not provided [RCV005191852] Chr4:6302079 [GRCh38]
Chr4:6303806 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_006005.3(WFS1):c.1079G>C (p.Cys360Ser) single nucleotide variant not provided [RCV005150777] Chr4:6300874 [GRCh38]
Chr4:6302601 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2494C>G (p.Arg832Gly) single nucleotide variant not provided [RCV005199967] Chr4:6302289 [GRCh38]
Chr4:6304016 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2556C>T (p.Ala852=) single nucleotide variant not provided [RCV005147169] Chr4:6302351 [GRCh38]
Chr4:6304078 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1059C>T (p.Ser353=) single nucleotide variant not provided [RCV005201075] Chr4:6300854 [GRCh38]
Chr4:6302581 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1058C>T (p.Ser353Phe) single nucleotide variant not provided [RCV005200437] Chr4:6300853 [GRCh38]
Chr4:6302580 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2016G>C (p.Leu672=) single nucleotide variant not provided [RCV005193374] Chr4:6301811 [GRCh38]
Chr4:6303538 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.631+18G>A single nucleotide variant not provided [RCV005178838] Chr4:6291385 [GRCh38]
Chr4:6293112 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.778C>T (p.Pro260Ser) single nucleotide variant not provided [RCV005072684] Chr4:6295106 [GRCh38]
Chr4:6296833 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1112G>C (p.Trp371Ser) single nucleotide variant not provided [RCV005171234] Chr4:6300907 [GRCh38]
Chr4:6302634 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1029C>T (p.Phe343=) single nucleotide variant not provided [RCV005194236] Chr4:6300824 [GRCh38]
Chr4:6302551 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.821T>G (p.Leu274Arg) single nucleotide variant not provided [RCV005181228] Chr4:6295149 [GRCh38]
Chr4:6296876 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.2663C>G (p.Ser888Trp) single nucleotide variant not provided [RCV005070268] Chr4:6302458 [GRCh38]
Chr4:6304185 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_006005.3(WFS1):c.1215T>C (p.Tyr405=) single nucleotide variant not provided [RCV005189597] Chr4:6301010 [GRCh38]
Chr4:6302737 [GRCh37]
Chr4:4p16.1		 likely benign
NM_006005.3(WFS1):c.1662G>C (p.Leu554=) single nucleotide variant not provided [RCV005144962] Chr4:6301457 [GRCh38]
Chr4:6303184 [GRCh37]
Chr4:4p16.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1633
Count of miRNA genes:796
Interacting mature miRNAs:913
Transcripts:ENST00000226760, ENST00000503569, ENST00000506362, ENST00000506588, ENST00000507765, ENST00000513395
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406890049GWAS539025_Htype 2 diabetes mellitus QTL GWAS539025 (human)3e-08type 2 diabetes mellitus463012956301296Human
597589791GWAS1646651_Hdiabetic eye disease QTL GWAS1646651 (human)1e-24diabetic eye disease463030726303073Human
597594012GWAS1650872_Hhematocrit QTL GWAS1650872 (human)5e-15hematocrithematocrit (CMO:0000037)463007926300793Human
596955283GWAS1074802_Hdiabetes mellitus QTL GWAS1074802 (human)2e-12diabetes mellitus462981876298188Human
597588375GWAS1645235_Hdiabetic neuropathy QTL GWAS1645235 (human)5e-41diabetic neuropathy463012956301296Human
597164817GWAS1260891_Htype 2 diabetes mellitus QTL GWAS1260891 (human)2e-30type 2 diabetes mellitus463023606302361Human
597590036GWAS1646896_Htype 2 diabetes mellitus QTL GWAS1646896 (human)3e-35pancreas integrity trait (VT:0010560)462888676288868Human
597589136GWAS1645996_Htype 2 diabetes nephropathy QTL GWAS1645996 (human)3e-13type 2 diabetes nephropathy462862386286239Human
597208329GWAS1304403_Htype 2 diabetes mellitus QTL GWAS1304403 (human)6e-34type 2 diabetes mellitus463012956301296Human
597579789GWAS1636649_Htype 2 diabetes nephropathy QTL GWAS1636649 (human)8e-16type 2 diabetes nephropathy463012956301296Human
597286796GWAS1382870_Hglucose measurement QTL GWAS1382870 (human)5e-11glucose measurementblood glucose level (CMO:0000046)462997326299733Human
597203712GWAS1299786_Htype 2 diabetes mellitus QTL GWAS1299786 (human)7e-20type 2 diabetes mellitus463007926300793Human
597241859GWAS1337933_HHbA1c measurement QTL GWAS1337933 (human)3e-11HbA1c measurementblood hemoglobin A1c level (CMO:0002786)462815266281527Human
597082636GWAS1178710_Htype 2 diabetes mellitus QTL GWAS1178710 (human)9e-12type 2 diabetes mellitus463020046302005Human
597597058GWAS1653918_Hlow density lipoprotein cholesterol measurement QTL GWAS1653918 (human)2e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)463007926300793Human
597590403GWAS1647263_Hdiabetic retinopathy QTL GWAS1647263 (human)2e-24diabetic retinopathy463030726303073Human
597245117GWAS1341191_HHbA1c measurement QTL GWAS1341191 (human)4e-11HbA1c measurementblood hemoglobin A1c level (CMO:0002786)463016276301628Human
597598779GWAS1655639_Hhemoglobin measurement QTL GWAS1655639 (human)1e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)463007926300793Human
597299005GWAS1395079_Htype 2 diabetes mellitus QTL GWAS1395079 (human)1e-34type 2 diabetes mellitus463012956301296Human
597588023GWAS1644883_Htype 2 diabetes mellitus QTL GWAS1644883 (human)5e-83type 2 diabetes mellitus462981876298188Human
597203505GWAS1299579_Htype 2 diabetes mellitus QTL GWAS1299579 (human)2e-17type 2 diabetes mellitus463007926300793Human
597205170GWAS1301244_Htype 2 diabetes mellitus QTL GWAS1301244 (human)1e-24type 2 diabetes mellitus463007926300793Human
597593903GWAS1650763_Hglucose measurement QTL GWAS1650763 (human)6e-64glucose measurementblood glucose level (CMO:0000046)462981876298188Human
597598895GWAS1655755_HHbA1c measurement QTL GWAS1655755 (human)6e-38HbA1c measurementblood hemoglobin A1c level (CMO:0002786)463007926300793Human
597395113GWAS1491187_Htype 2 diabetes mellitus QTL GWAS1491187 (human)5e-41type 2 diabetes mellitus462915106291511Human
597146788GWAS1242862_Hdiabetes mellitus QTL GWAS1242862 (human)2e-11pancreas integrity trait (VT:0010560)462857296285730Human
597107746GWAS1203820_HDrugs used in diabetes use measurement QTL GWAS1203820 (human)4e-20Drugs used in diabetes use measurement462933376293338Human
597024547GWAS1120621_Htype 2 diabetes mellitus QTL GWAS1120621 (human)0.0000005type 2 diabetes mellitus463012956301296Human
597588775GWAS1645635_Hglucose measurement QTL GWAS1645635 (human)2e-37glucose measurementblood glucose level (CMO:0000046)463007926300793Human
597599012GWAS1655872_HHbA1c measurement QTL GWAS1655872 (human)3e-38HbA1c measurementblood hemoglobin A1c level (CMO:0002786)463007926300793Human
597057963GWAS1154037_Htype 2 diabetes mellitus QTL GWAS1154037 (human)3e-18type 2 diabetes mellitus463007926300793Human
407160443GWAS809419_Htype 2 diabetes mellitus QTL GWAS809419 (human)0.000005type 2 diabetes mellitus463007926300793Human
597598686GWAS1655546_HHbA1c measurement QTL GWAS1655546 (human)5e-35HbA1c measurementblood hemoglobin A1c level (CMO:0002786)463007926300793Human
597589342GWAS1646202_Htype 1 diabetes mellitus QTL GWAS1646202 (human)2e-14type 1 diabetes mellitus463012956301296Human
597594588GWAS1651448_Hglucose measurement QTL GWAS1651448 (human)5e-84glucose measurementblood glucose level (CMO:0000046)462981876298188Human
597596376GWAS1653236_Hdiabetes mellitus, Drugs used in diabetes use measurement QTL GWAS1653236 (human)4e-55pancreas integrity trait (VT:0010560)463012956301296Human
597590233GWAS1647093_Hdiabetic polyneuropathy QTL GWAS1647093 (human)7e-14diabetic polyneuropathy462981876298188Human
596963667GWAS1083186_Htype 2 diabetes mellitus QTL GWAS1083186 (human)1e-34type 2 diabetes mellitus463012956301296Human
597508181GWAS1604255_Htype 2 diabetes mellitus QTL GWAS1604255 (human)1e-08type 2 diabetes mellitus462915106291511Human
597603282GWAS1660142_Htype 2 diabetes mellitus QTL GWAS1660142 (human)4e-25type 2 diabetes mellitus463020046302005Human
597024475GWAS1120549_Htype 2 diabetes mellitus QTL GWAS1120549 (human)3e-12type 2 diabetes mellitus463012956301296Human
597603281GWAS1660141_Htype 2 diabetes mellitus QTL GWAS1660141 (human)3e-100type 2 diabetes mellitus462959196295920Human
597580753GWAS1637613_Hdiabetic retinopathy QTL GWAS1637613 (human)7e-35diabetic retinopathy463012956301296Human
597589838GWAS1646698_Hdiabetic neuropathy QTL GWAS1646698 (human)5e-24diabetic neuropathy463016276301628Human
597107909GWAS1203983_Hhigh density lipoprotein cholesterol measurement QTL GWAS1203983 (human)7e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)462993316299332Human
597585227GWAS1642087_Hdiabetes mellitus, Drugs used in diabetes use measurement QTL GWAS1642087 (human)9e-33pancreas integrity trait (VT:0010560)462862386286239Human
597596612GWAS1653472_Hdiabetes mellitus QTL GWAS1653472 (human)9e-54pancreas integrity trait (VT:0010560)463012956301296Human
597024590GWAS1120664_Htype 2 diabetes mellitus QTL GWAS1120664 (human)2e-15type 2 diabetes mellitus462882596288260Human
597606213GWAS1663073_HHbA1c measurement QTL GWAS1663073 (human)1e-67HbA1c measurementblood hemoglobin A1c level (CMO:0002786)463012956301296Human
597398341GWAS1494415_Htype 2 diabetes mellitus QTL GWAS1494415 (human)4e-37type 2 diabetes mellitus462915106291511Human
597605952GWAS1662812_HHbA1c measurement QTL GWAS1662812 (human)1e-82HbA1c measurementblood hemoglobin A1c level (CMO:0002786)463012956301296Human
597589952GWAS1646812_Hinsulin measurement QTL GWAS1646812 (human)2e-12insulin measurementpancreatic islet insulin release measurement (CMO:0001216)463030726303073Human
597309893GWAS1405967_HDrugs used in diabetes use measurement QTL GWAS1405967 (human)7e-21Drugs used in diabetes use measurement462933376293338Human
597511292GWAS1607366_Htype 2 diabetes mellitus QTL GWAS1607366 (human)0.0000001type 2 diabetes mellitus462915106291511Human
597605627GWAS1662487_HHbA1c measurement QTL GWAS1662487 (human)6e-79HbA1c measurementblood hemoglobin A1c level (CMO:0002786)463012956301296Human
597588084GWAS1644944_Hdiabetes mellitus QTL GWAS1644944 (human)3e-81pancreas integrity trait (VT:0010560)462981876298188Human
407229736GWAS878712_Htype 2 diabetes mellitus QTL GWAS878712 (human)2e-09type 2 diabetes mellitus462882596288260Human
597588339GWAS1645199_Hglucose measurement QTL GWAS1645199 (human)3e-31glucose measurementblood glucose level (CMO:0000046)463007926300793Human
597291242GWAS1387316_Hdiabetes mellitus QTL GWAS1387316 (human)2e-12pancreas integrity trait (VT:0010560)462981876298188Human
597169261GWAS1265335_Htype 2 diabetes mellitus QTL GWAS1265335 (human)2e-21type 2 diabetes mellitus463020046302005Human
597256430GWAS1352504_Htype 2 diabetes mellitus QTL GWAS1352504 (human)0.000008type 2 diabetes mellitus462743996274400Human
597578470GWAS1635330_Hdiabetic polyneuropathy QTL GWAS1635330 (human)4e-16diabetic polyneuropathy463012956301296Human
597203298GWAS1299372_Htype 2 diabetes mellitus QTL GWAS1299372 (human)7e-21type 2 diabetes mellitus463007926300793Human
597164514GWAS1260588_HDrugs used in diabetes use measurement QTL GWAS1260588 (human)1e-13Drugs used in diabetes use measurement463020046302005Human
597144173GWAS1240247_HDrugs used in diabetes use measurement QTL GWAS1240247 (human)5e-26Drugs used in diabetes use measurement463023606302361Human
597280613GWAS1376687_Hhemoglobin A1 measurement QTL GWAS1376687 (human)9e-15hemoglobin A1 measurement462892766289277Human
597029736GWAS1125810_Hototoxicity, response to cisplatin QTL GWAS1125810 (human)5e-08ototoxicity, response to cisplatin462749036274904Human
407147065GWAS796041_Hcholesteryl ester 16:0 measurement QTL GWAS796041 (human)0.000007blood lipid amount (VT:0003949)463025596302560Human

Markers in Region
D4S3023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,301,469 - 4,301,613UniSTSGRCh37
Build 3644,352,370 - 4,352,514RGDNCBI36
Celera44,199,092 - 4,199,242RGD
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15.32UniSTS
HuRef44,237,147 - 4,237,295UniSTS
Marshfield Genetic Map48.24UniSTS
Marshfield Genetic Map48.24RGD
Genethon Genetic Map46.7UniSTS
TNG Radiation Hybrid Map42481.0UniSTS
deCODE Assembly Map47.17UniSTS
Stanford-G3 RH Map4258.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map462.1UniSTS
D4S3007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,782,524 - 6,782,769UniSTSGRCh37
Build 3646,833,425 - 6,833,670RGDNCBI36
Celera46,684,539 - 6,684,782RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,713,827 - 6,714,066UniSTS
Marshfield Genetic Map412.93UniSTS
Marshfield Genetic Map412.93RGD
Genethon Genetic Map412.3UniSTS
deCODE Assembly Map413.98UniSTS
GeneMap99-GB4 RH Map442.84UniSTS
Whitehead-RH Map438.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map481.3UniSTS
SHGC-59709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,303,458 - 6,303,688UniSTSGRCh37
Build 3646,354,359 - 6,354,589RGDNCBI36
Celera46,204,136 - 6,204,366RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,236,902 - 6,237,132UniSTS
TNG Radiation Hybrid Map43669.0UniSTS
GeneMap99-GB4 RH Map445.04UniSTS
D4S126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3743,695,134 - 3,695,309UniSTSGRCh37
GRCh3743,052,697 - 3,052,861UniSTSGRCh37
GRCh3743,692,336 - 3,692,519UniSTSGRCh37
Build 3643,662,134 - 3,662,317RGDNCBI36
Celera42,963,943 - 2,964,105UniSTS
Celera43,598,120 - 3,598,295UniSTS
Celera43,595,322 - 3,595,505RGD
Cytogenetic Map4p16.1UniSTS
HuRef43,632,410 - 3,632,585UniSTS
HuRef42,991,179 - 2,991,349UniSTS
HuRef43,629,612 - 3,629,795UniSTS
G01790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,293,523 - 6,293,705UniSTSGRCh37
Build 3646,344,424 - 6,344,606RGDNCBI36
Celera46,194,202 - 6,194,384RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,227,278 - 6,227,460UniSTS
WI-21965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,304,741 - 6,304,990UniSTSGRCh37
Build 3646,355,642 - 6,355,891RGDNCBI36
Celera46,205,419 - 6,205,668RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,238,185 - 6,238,434UniSTS
GeneMap99-GB4 RH Map440.23UniSTS
Whitehead-RH Map436.2UniSTS
NCBI RH Map481.3UniSTS
WFS1__4904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,304,369 - 6,305,114UniSTSGRCh37
Build 3646,355,270 - 6,356,015RGDNCBI36
Celera46,205,047 - 6,205,792RGD
HuRef46,237,813 - 6,238,558UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2248 4974 1726 2351 6 624 1917 465 2270 7277 6443 51 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB839160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF084481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC890796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP744537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR014943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR014944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR014945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000226760   ⟹   ENSP00000226760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,269,850 - 6,303,265 (+)Ensembl
Ensembl Acc Id: ENST00000503569   ⟹   ENSP00000423337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,269,849 - 6,302,883 (+)Ensembl
Ensembl Acc Id: ENST00000506362   ⟹   ENSP00000424103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,269,977 - 6,302,871 (+)Ensembl
Ensembl Acc Id: ENST00000506588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,269,850 - 6,288,129 (+)Ensembl
Ensembl Acc Id: ENST00000507765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,288,487 - 6,303,265 (+)Ensembl
Ensembl Acc Id: ENST00000513395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,294,771 - 6,300,807 (+)Ensembl
Ensembl Acc Id: ENST00000673642   ⟹   ENSP00000501242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,277,657 - 6,302,149 (+)Ensembl
Ensembl Acc Id: ENST00000673991   ⟹   ENSP00000501033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,269,849 - 6,303,225 (+)Ensembl
Ensembl Acc Id: ENST00000674051   ⟹   ENSP00000501083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,277,451 - 6,291,308 (+)Ensembl
Ensembl Acc Id: ENST00000682059   ⟹   ENSP00000507988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,277,455 - 6,283,277 (+)Ensembl
Ensembl Acc Id: ENST00000682275   ⟹   ENSP00000507852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,269,850 - 6,303,251 (+)Ensembl
Ensembl Acc Id: ENST00000683395   ⟹   ENSP00000507124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,277,466 - 6,303,264 (+)Ensembl
Ensembl Acc Id: ENST00000684054   ⟹   ENSP00000507120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,277,455 - 6,289,223 (+)Ensembl
Ensembl Acc Id: ENST00000684087   ⟹   ENSP00000506978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,277,309 - 6,303,250 (+)Ensembl
Ensembl Acc Id: ENST00000684700   ⟹   ENSP00000507806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl46,277,455 - 6,291,652 (+)Ensembl
RefSeq Acc Id: NM_001145853   ⟹   NP_001139325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,269,850 - 6,303,265 (+)NCBI
GRCh3746,271,577 - 6,304,992 (+)ENTREZGENE
HuRef46,205,316 - 6,238,436 (+)ENTREZGENE
CHM1_146,269,525 - 6,302,942 (+)NCBI
T2T-CHM13v2.046,243,866 - 6,277,297 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006005   ⟹   NP_005996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,269,850 - 6,303,265 (+)NCBI
GRCh3746,271,577 - 6,304,992 (+)ENTREZGENE
Build 3646,322,478 - 6,355,893 (+)NCBI Archive
HuRef46,205,316 - 6,238,436 (+)ENTREZGENE
CHM1_146,269,525 - 6,302,942 (+)NCBI
T2T-CHM13v2.046,243,866 - 6,277,297 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005996   ⟸   NM_006005
- UniProtKB: Q8N6I3 (UniProtKB/Swiss-Prot),   D3DVT1 (UniProtKB/Swiss-Prot),   B2R797 (UniProtKB/Swiss-Prot),   Q9UNW6 (UniProtKB/Swiss-Prot),   O76024 (UniProtKB/Swiss-Prot),   A0A0S2Z4V6 (UniProtKB/TrEMBL),   A0A669KAX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139325   ⟸   NM_001145853
- UniProtKB: Q8N6I3 (UniProtKB/Swiss-Prot),   D3DVT1 (UniProtKB/Swiss-Prot),   B2R797 (UniProtKB/Swiss-Prot),   Q9UNW6 (UniProtKB/Swiss-Prot),   O76024 (UniProtKB/Swiss-Prot),   A0A0S2Z4V6 (UniProtKB/TrEMBL),   A0A669KAX3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000501242   ⟸   ENST00000673642
Ensembl Acc Id: ENSP00000501033   ⟸   ENST00000673991
Ensembl Acc Id: ENSP00000423337   ⟸   ENST00000503569
Ensembl Acc Id: ENSP00000501083   ⟸   ENST00000674051
Ensembl Acc Id: ENSP00000424103   ⟸   ENST00000506362
Ensembl Acc Id: ENSP00000226760   ⟸   ENST00000226760
Ensembl Acc Id: ENSP00000507124   ⟸   ENST00000683395
Ensembl Acc Id: ENSP00000507852   ⟸   ENST00000682275
Ensembl Acc Id: ENSP00000507120   ⟸   ENST00000684054
Ensembl Acc Id: ENSP00000507988   ⟸   ENST00000682059
Ensembl Acc Id: ENSP00000506978   ⟸   ENST00000684087
Ensembl Acc Id: ENSP00000507806   ⟸   ENST00000684700
Protein Domains
Wolframin cysteine-rich   Wolframin EF-hand   Wolframin OB-fold

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O76024-F1-model_v2 AlphaFold O76024 1-890 view protein structure

Promoters
RGD ID:6866968
Promoter ID:EPDNEW_H6649
Type:initiation region
Name:WFS1_1
Description:wolframin ER transmembrane glycoprotein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,269,882 - 6,269,942EPDNEW
RGD ID:6802763
Promoter ID:HG_KWN:47786
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000226760,   UC003GIY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3646,322,071 - 6,322,617 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12762 AgrOrtholog
COSMIC WFS1 COSMIC
Ensembl Genes ENSG00000109501 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000226760 ENTREZGENE
  ENST00000226760.5 UniProtKB/Swiss-Prot
  ENST00000503569 ENTREZGENE
  ENST00000503569.5 UniProtKB/Swiss-Prot
  ENST00000684087.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000109501 GTEx
HGNC ID HGNC:12762 ENTREZGENE
Human Proteome Map WFS1 Human Proteome Map
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
  Wolframin UniProtKB/Swiss-Prot
  Wolframin_Cys-rich UniProtKB/Swiss-Prot
  Wolframin_EF-hand UniProtKB/Swiss-Prot
  Wolframin_fam UniProtKB/Swiss-Prot
  Wolframin_OB_fold UniProtKB/Swiss-Prot
  Wolframin_Sel1-like_rpt UniProtKB/Swiss-Prot
KEGG Report hsa:7466 UniProtKB/Swiss-Prot
NCBI Gene 7466 ENTREZGENE
OMIM 606201 OMIM
PANTHER PTHR13098 UniProtKB/Swiss-Prot
  WOLFRAMIN UniProtKB/Swiss-Prot
Pfam WC-rich UniProtKB/Swiss-Prot
  WCOB UniProtKB/Swiss-Prot
  WEF-hand UniProtKB/Swiss-Prot
  WSLR UniProtKB/Swiss-Prot
PharmGKB PA37365 PharmGKB
PRINTS WOLFFAMILY UniProtKB/Swiss-Prot
  WOLFRAMIN UniProtKB/Swiss-Prot
UniProt A0A0E3H6T4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4V4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4V6 ENTREZGENE, UniProtKB/TrEMBL
  A0A669KAX3 ENTREZGENE, UniProtKB/TrEMBL
  A0A669KB26_HUMAN UniProtKB/TrEMBL
  A0A669KBF0_HUMAN UniProtKB/TrEMBL
  A0A804HIL0_HUMAN UniProtKB/TrEMBL
  A0A804HIL2_HUMAN UniProtKB/TrEMBL
  A0A804HK77_HUMAN UniProtKB/TrEMBL
  A0A804HKM5_HUMAN UniProtKB/TrEMBL
  B2R797 ENTREZGENE
  D3DVT1 ENTREZGENE
  H0Y9G5_HUMAN UniProtKB/TrEMBL
  O76024 ENTREZGENE
  Q8N6I3 ENTREZGENE
  Q9UNW6 ENTREZGENE
  WFS1_HUMAN UniProtKB/Swiss-Prot
  X2CT56_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R797 UniProtKB/Swiss-Prot
  D3DVT1 UniProtKB/Swiss-Prot
  Q8N6I3 UniProtKB/Swiss-Prot
  Q9UNW6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 WFS1  wolframin ER transmembrane glycoprotein  WFS1  Wolfram syndrome 1 (wolframin)  Symbol and/or name change 5135510 APPROVED