DUOX2 (dual oxidase 2) - Rat Genome Database

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Gene: DUOX2 (dual oxidase 2) Homo sapiens
Analyze
Symbol: DUOX2
Name: dual oxidase 2
RGD ID: 1353863
HGNC Page HGNC:13273
Description: Enables NAD(P)H oxidase H2O2-forming activity and calcium ion binding activity. Involved in several processes, including hydrogen peroxide biosynthetic process; response to cAMP; and superoxide anion generation. Located in several cellular components, including cell leading edge; cell surface; and endoplasmic reticulum. Implicated in congenital hypothyroidism and thyroid dyshormonogenesis 6. Biomarker of Crohn's disease; cholera; and ulcerative colitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dual oxidase-like domains 2; flavoprotein NADPH oxidase; large NOX 2; LNOX2; long NOX 2; NADH/NADPH thyroid oxidase p138-tox; NADPH oxidase/peroxidase DUOX2; NADPH thyroid oxidase 2; nicotinamide adenine dinucleotide phosphate oxidase; NOXEF2; p138 thyroid oxidase; P138-TOX; TDH6; THOX2; thyroid oxidase 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381545,092,650 - 45,114,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1545,092,650 - 45,114,172 (-)EnsemblGRCh38hg38GRCh38
GRCh371545,384,848 - 45,406,370 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361543,172,144 - 43,193,651 (-)NCBINCBI36Build 36hg18NCBI36
Build 341543,172,144 - 43,193,651NCBI
Celera1522,276,281 - 22,297,794 (-)NCBICelera
Cytogenetic Map15q21.1NCBI
HuRef1522,209,058 - 22,230,571 (-)NCBIHuRef
CHM1_11545,503,163 - 45,524,692 (-)NCBICHM1_1
T2T-CHM13v2.01542,900,666 - 42,922,193 (-)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)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
allethrin  (ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
carbon monoxide  (ISO)
cerium trichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cyfluthrin  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (EXP)
desferrioxamine B  (EXP)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
fenvalerate  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
graphite  (ISO)
irinotecan  (ISO)
lipopolysaccharide  (EXP)
MeIQx  (EXP)
mercaptopurine  (ISO)
methyl vanillate  (EXP)
methylarsonic acid  (ISO)
microcystin-LR  (ISO)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
permethrin  (ISO)
phenylmercury acetate  (EXP)
potassium iodide  (ISO)
purine-6-thiol  (ISO)
pyrethrins  (ISO)
Pyridostigmine bromide  (ISO)
quercetin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium azide  (EXP)
sodium nitrate  (ISO)
sotorasib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thyroxine  (ISO)
trametinib  (EXP)
trichloroethene  (ISO)
triptonide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. Analysis of the Human Mucosal Response to Cholera Reveals Sustained Activation of Innate Immune Signaling Pathways. Bourque DL, etal., Infect Immun. 2018 Jan 22;86(2). pii: IAI.00594-17. doi: 10.1128/IAI.00594-17. Print 2018 Feb.
2. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. De Deken X, etal., J Biol Chem 2000 Jul 28;275(30):23227-33.
3. Intranasal delivery of Duox2 DNA using cationic polymer can prevent acute influenza A viral infection in vivo lung. Kim BJ, etal., Appl Microbiol Biotechnol. 2018 Jan;102(1):105-115. doi: 10.1007/s00253-017-8512-1. Epub 2017 Sep 21.
4. The Induction of Pattern-Recognition Receptor Expression against Influenza A Virus through Duox2-Derived Reactive Oxygen Species in Nasal Mucosa. Kim HJ, etal., Am J Respir Cell Mol Biol. 2015 Oct;53(4):525-35. doi: 10.1165/rcmb.2014-0334OC.
5. Chemiluminescence imaging of Duox2-derived hydrogen peroxide for longitudinal visualization of biological response to viral infection in nasal mucosa. Kim HJ, etal., Theranostics. 2018 Feb 12;8(7):1798-1807. doi: 10.7150/thno.22481. eCollection 2018.
6. The Gastric Mucosa from Patients Infected with CagA+ or VacA+ Helicobacter pylori Has a Lower Level of Dual Oxidase-2 Expression than Uninfected or Infected with CagA-/VacA- H. pylori. Li H, etal., Dig Dis Sci. 2016 Aug;61(8):2328-2337. doi: 10.1007/s10620-016-4144-z. Epub 2016 Apr 5.
7. DUOX2-derived reactive oxygen species are effectors of NOD2-mediated antibacterial responses. Lipinski S, etal., J Cell Sci. 2009 Oct 1;122(Pt 19):3522-30. doi: 10.1242/jcs.050690.
8. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. Moreno JC, etal., N Engl J Med 2002 Jul 11;347(2):95-102.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10601291   PMID:10737800   PMID:11032719   PMID:11443211   PMID:11514595   PMID:11753072   PMID:11762710   PMID:11822874   PMID:12824283   PMID:15062544   PMID:15150274   PMID:15210697  
PMID:15561711   PMID:15591162   PMID:15677770   PMID:15972824   PMID:16111680   PMID:16134168   PMID:16322276   PMID:16478776   PMID:16608528   PMID:16651268   PMID:17374849   PMID:17684392  
PMID:18177232   PMID:18281478   PMID:18765513   PMID:19144650   PMID:19199708   PMID:19339556   PMID:19789206   PMID:19913121   PMID:19952225   PMID:20056178   PMID:20346360   PMID:20381453  
PMID:20511343   PMID:20531308   PMID:20628086   PMID:20826581   PMID:21148036   PMID:21321110   PMID:21565790   PMID:21704604   PMID:21714724   PMID:21873635   PMID:21915726   PMID:22336364  
PMID:22523549   PMID:22592922   PMID:22814254   PMID:23010498   PMID:23225414   PMID:23281318   PMID:23296709   PMID:23362256   PMID:23404210   PMID:23457309   PMID:23545780   PMID:23728617  
PMID:24127536   PMID:24128054   PMID:24161126   PMID:24164541   PMID:24423310   PMID:24492313   PMID:24735383   PMID:25003194   PMID:25248169   PMID:25263060   PMID:25586178   PMID:25616291  
PMID:25761904   PMID:26046128   PMID:26056003   PMID:26174504   PMID:26207686   PMID:26261005   PMID:26349762   PMID:26506010   PMID:26565538   PMID:26709262   PMID:26742565   PMID:26823467  
PMID:27108200   PMID:27110716   PMID:27166716   PMID:27282560   PMID:27349010   PMID:27373512   PMID:27498126   PMID:27557340   PMID:27637085   PMID:28541007   PMID:28633507   PMID:28666341  
PMID:28683258   PMID:29092890   PMID:29320567   PMID:29715584   PMID:30375286   PMID:30948266   PMID:31030636   PMID:31044655   PMID:31501191   PMID:31513783   PMID:31586073   PMID:31706280  
PMID:32207419   PMID:32425884   PMID:32457219   PMID:32531052   PMID:32803677   PMID:33488516   PMID:33628596   PMID:33631011   PMID:33651715   PMID:33748270   PMID:34564849   PMID:34784249  
PMID:35507000   PMID:35960091   PMID:36607642   PMID:37517801  


Genomics

Comparative Map Data
DUOX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381545,092,650 - 45,114,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1545,092,650 - 45,114,172 (-)EnsemblGRCh38hg38GRCh38
GRCh371545,384,848 - 45,406,370 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361543,172,144 - 43,193,651 (-)NCBINCBI36Build 36hg18NCBI36
Build 341543,172,144 - 43,193,651NCBI
Celera1522,276,281 - 22,297,794 (-)NCBICelera
Cytogenetic Map15q21.1NCBI
HuRef1522,209,058 - 22,230,571 (-)NCBIHuRef
CHM1_11545,503,163 - 45,524,692 (-)NCBICHM1_1
T2T-CHM13v2.01542,900,666 - 42,922,193 (-)NCBIT2T-CHM13v2.0
Duox2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392122,109,727 - 122,129,221 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2122,109,728 - 122,128,930 (-)EnsemblGRCm39 Ensembl
GRCm382122,279,246 - 122,298,740 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2122,279,247 - 122,298,449 (-)EnsemblGRCm38mm10GRCm38
MGSCv372122,106,173 - 122,123,901 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362121,971,878 - 121,989,606 (-)NCBIMGSCv36mm8
Celera2123,430,543 - 123,448,297 (-)NCBICelera
Cytogenetic Map2E5NCBI
cM Map260.61NCBI
Duox2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83129,680,543 - 129,698,886 (-)NCBIGRCr8
mRatBN7.23109,223,809 - 109,247,023 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3109,226,924 - 109,245,902 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3112,900,635 - 112,918,867 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03121,496,154 - 121,514,388 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03119,156,528 - 119,174,762 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03114,218,187 - 114,237,808 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3114,218,193 - 114,235,933 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03120,757,633 - 120,776,304 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43109,059,360 - 109,077,106 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13108,964,932 - 108,982,679 (-)NCBI
Celera3108,124,745 - 108,142,508 (-)NCBICelera
Cytogenetic Map3q35NCBI
Duox2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554098,271,164 - 8,287,096 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554098,270,657 - 8,288,201 (+)NCBIChiLan1.0ChiLan1.0
DUOX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21634,333,405 - 34,353,780 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11538,511,302 - 38,531,933 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01524,040,513 - 24,061,758 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11542,393,643 - 42,414,281 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1542,395,135 - 42,414,281 (-)Ensemblpanpan1.1panPan2
DUOX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13011,521,833 - 11,541,719 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3011,521,845 - 11,541,716 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3011,578,140 - 11,598,867 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03011,658,603 - 11,679,500 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3011,658,612 - 11,678,512 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13011,564,842 - 11,585,734 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03011,687,574 - 11,708,297 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03011,806,853 - 11,827,575 (-)NCBIUU_Cfam_GSD_1.0
Duox2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864089,964,100 - 89,983,254 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364717,813,128 - 7,831,258 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364717,812,163 - 7,831,258 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DUOX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1126,620,510 - 126,641,406 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11126,620,468 - 126,641,406 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21141,221,502 - 141,241,329 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DUOX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12638,090,053 - 38,110,781 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2638,090,648 - 38,109,636 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048102,947,646 - 102,968,937 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Duox2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473114,122,608 - 14,138,121 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473114,121,855 - 14,139,344 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DUOX2
1748 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001363711.2(DUOX2):c.2719A>G (p.Met907Val) single nucleotide variant not provided [RCV002967407] Chr15:45101925 [GRCh38]
Chr15:45394123 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4597G>A (p.Val1533Ile) single nucleotide variant not provided [RCV001494040] Chr15:45094200 [GRCh38]
Chr15:45386398 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4403G>A (p.Cys1468Tyr) single nucleotide variant not provided [RCV000522456] Chr15:45094684 [GRCh38]
Chr15:45386882 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3968C>T (p.Ala1323Val) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003448317]|not provided [RCV000521845] Chr15:45095940 [GRCh38]
Chr15:45388138 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) single nucleotide variant Inborn genetic diseases [RCV002512746]|Thyroid dyshormonogenesis 6 [RCV000004277]|not provided [RCV001386015] Chr15:45108887 [GRCh38]
Chr15:45401085 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000004278]|not provided [RCV001268646] Chr15:45106217 [GRCh38]
Chr15:45398415 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000004279]|not provided [RCV000627257] Chr15:45104176 [GRCh38]
Chr15:45396374 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) single nucleotide variant DUOX2-related condition [RCV003398443]|Thyroid dyshormonogenesis 6 [RCV000004280]|not provided [RCV001851637] Chr15:45109895 [GRCh38]
Chr15:45402093 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.4475G>A (p.Arg1492His) single nucleotide variant not provided [RCV000522334] Chr15:45094612 [GRCh38]
Chr15:45386810 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_014080.4(DUOX2):c.4538G>A (p.Gly1513Glu) single nucleotide variant Malignant melanoma [RCV000070793] Chr15:45094259 [GRCh38]
Chr15:45386457 [GRCh37]
Chr15:43173749 [NCBI36]
Chr15:15q21.1		 not provided
NM_001363711.2(DUOX2):c.3492C>T (p.Phe1164=) single nucleotide variant not provided [RCV003660339] Chr15:45099406 [GRCh38]
Chr15:45391604 [GRCh37]
Chr15:43178896 [NCBI36]
Chr15:15q21.1		 likely benign|not provided
NM_014080.4(DUOX2):c.3324C>T (p.Phe1108=) single nucleotide variant Malignant melanoma [RCV000070795] Chr15:45099753 [GRCh38]
Chr15:45391951 [GRCh37]
Chr15:43179243 [NCBI36]
Chr15:15q21.1		 not provided
NM_014080.4(DUOX2):c.2392G>A (p.Val798Met) single nucleotide variant Malignant melanoma [RCV000070796] Chr15:45104308 [GRCh38]
Chr15:45396506 [GRCh37]
Chr15:43183798 [NCBI36]
Chr15:15q21.1		 not provided
NM_001363711.2(DUOX2):c.2023C>T (p.Leu675=) single nucleotide variant not provided [RCV003684991] Chr15:45106250 [GRCh38]
Chr15:45398448 [GRCh37]
Chr15:43185740 [NCBI36]
Chr15:15q21.1		 likely benign|not provided
NM_014080.4(DUOX2):c.1989C>T (p.Ile663=) single nucleotide variant Malignant melanoma [RCV000070798] Chr15:45106284 [GRCh38]
Chr15:45398482 [GRCh37]
Chr15:43185774 [NCBI36]
Chr15:15q21.1		 not provided
NM_001363711.2(DUOX2):c.2664C>T (p.Ile888=) single nucleotide variant not provided [RCV002578469] Chr15:45101980 [GRCh38]
Chr15:45394178 [GRCh37]
Chr15:43181470 [NCBI36]
Chr15:15q21.1		 likely benign|not provided
NM_014080.4(DUOX2):c.1078G>A (p.Gly360Ser) single nucleotide variant Malignant melanoma [RCV000062870] Chr15:45109943 [GRCh38]
Chr15:45402141 [GRCh37]
Chr15:43189433 [NCBI36]
Chr15:15q21.1		 not provided
NM_001363711.2(DUOX2):c.3308G>A (p.Arg1103His) single nucleotide variant not provided [RCV003104368] Chr15:45099769 [GRCh38]
Chr15:45391967 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.325+20C>G single nucleotide variant not provided [RCV003666206] Chr15:45112534 [GRCh38]
Chr15:45404732 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1398+2T>C single nucleotide variant not provided [RCV003816830] Chr15:45108787 [GRCh38]
Chr15:45400985 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3 copy number gain See cases [RCV000139024] Chr15:44765914..45476854 [GRCh38]
Chr15:45058112..45769052 [GRCh37]
Chr15:42845404..43556344 [NCBI36]
Chr15:15q21.1		 uncertain significance
GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3 copy number gain See cases [RCV000143255] Chr15:45026980..45579878 [GRCh38]
Chr15:45319178..45872076 [GRCh37]
Chr15:43106470..43659368 [NCBI36]
Chr15:15q21.1		 uncertain significance
GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3 copy number gain See cases [RCV000143502] Chr15:45032714..45592481 [GRCh38]
Chr15:45324912..45884679 [GRCh37]
Chr15:43112204..43671971 [NCBI36]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3515+5G>T single nucleotide variant not provided [RCV000254707] Chr15:45099378 [GRCh38]
Chr15:45391576 [GRCh37]
Chr15:15q21.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.3847+2T>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000169658]|not provided [RCV001850409] Chr15:45097236 [GRCh38]
Chr15:45389434 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) deletion Congenital hypothyroidism [RCV000991174]|DUOX2-related condition [RCV003398870]|Familial thyroid dyshormonogenesis [RCV000169659]|Inborn genetic diseases [RCV000624099]|Nongoitrous Euthyroid Hyperthyrotropinemia [RCV000755102]|Thyroid dyshormonogenesis 6 [RCV001265562]|not provided [RCV000256134] Chr15:45101228..45101231 [GRCh38]
Chr15:45393426..45393429 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) single nucleotide variant DUOX2-related condition [RCV003977634]|Meckel syndrome, type 11 [RCV001258289]|Thyroid dyshormonogenesis 6 [RCV000989307]|not provided [RCV000224063] Chr15:45105795 [GRCh38]
Chr15:45397993 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000779165]|not provided [RCV000329453] Chr15:45107450 [GRCh38]
Chr15:45399648 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2907dup (p.Thr970fs) duplication not provided [RCV000318139] Chr15:45101218..45101219 [GRCh38]
Chr15:45393416..45393417 [GRCh37]
Chr15:15q21.1		 pathogenic
GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3 copy number gain See cases [RCV000239920] Chr15:45059827..45725363 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4479C>G (p.Pro1493=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000304172]|not provided [RCV001518957]|not specified [RCV000243583] Chr15:45094608 [GRCh38]
Chr15:45386806 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.1693+10G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116599]|not provided [RCV000947626]|not specified [RCV000246060] Chr15:45107335 [GRCh38]
Chr15:45399533 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.2033A>G (p.His678Arg) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000265293]|not provided [RCV001512475]|not specified [RCV000251004] Chr15:45106240 [GRCh38]
Chr15:45398438 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.413C>T (p.Pro138Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000608705]|not provided [RCV001520085]|not specified [RCV000251571] Chr15:45111868 [GRCh38]
Chr15:45404066 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3515+15T>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000602291]|not provided [RCV001515519]|not specified [RCV000242030] Chr15:45099368 [GRCh38]
Chr15:45391566 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3966C>T (p.Ser1322=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000277841]|not provided [RCV001515409]|not specified [RCV000247017] Chr15:45095942 [GRCh38]
Chr15:45388140 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2944C>G (p.Pro982Ala) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121399]|not provided [RCV001518958]|not specified [RCV000247053] Chr15:45100816 [GRCh38]
Chr15:45393014 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000607232]|not provided [RCV001520084]|not specified [RCV000252016] Chr15:45099877 [GRCh38]
Chr15:45392075 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1461G>C (p.Gly487=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000614304]|not provided [RCV001512476]|not specified [RCV000254488] Chr15:45108160 [GRCh38]
Chr15:45400358 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2334+10C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000293874]|not provided [RCV001523003]|not specified [RCV000242479] Chr15:45105633 [GRCh38]
Chr15:45397831 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.2102G>A (p.Arg701Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000357885]|not provided [RCV001523005]|not specified [RCV000242564] Chr15:45106171 [GRCh38]
Chr15:45398369 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.2286G>A (p.Gln762=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000390536]|not provided [RCV001518959]|not specified [RCV000250509] Chr15:45105691 [GRCh38]
Chr15:45397889 [GRCh37]
Chr15:15q21.1		 benign|likely benign
GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1 copy number loss See cases [RCV000240380] Chr15:44484701..47475522 [GRCh37]
Chr15:15q15.3-21.1		 uncertain significance
NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119591]|not provided [RCV001519288]|not specified [RCV000248134] Chr15:45110685 [GRCh38]
Chr15:45402883 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.2148+9C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000300795]|not provided [RCV001523004]|not specified [RCV000245946] Chr15:45106116 [GRCh38]
Chr15:45398314 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000281763]|not provided [RCV000900310] Chr15:45094160 [GRCh38]
Chr15:45386358 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.4572G>T (p.Lys1524Asn) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000395891] Chr15:45094225 [GRCh38]
Chr15:45386423 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.501C>T (p.Asn167=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000283314]|not provided [RCV000957273] Chr15:45111780 [GRCh38]
Chr15:45403978 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3531G>T (p.Gln1177His) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000285019]|not provided [RCV002056459] Chr15:45098043 [GRCh38]
Chr15:45390241 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.1962C>T (p.Gly654=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000304080]|not provided [RCV001517007] Chr15:45106311 [GRCh38]
Chr15:45398509 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000268672]|not provided [RCV001092503] Chr15:45106838 [GRCh38]
Chr15:45399036 [GRCh37]
Chr15:15q21.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.1528C>T (p.Arg510Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000326310]|not provided [RCV002522796] Chr15:45108093 [GRCh38]
Chr15:45400291 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2291G>A (p.Arg764Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000351077]|not provided [RCV002510849] Chr15:45105686 [GRCh38]
Chr15:45397884 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2394G>A (p.Val798=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000289068]|not provided [RCV002056461] Chr15:45104306 [GRCh38]
Chr15:45396504 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.953C>A (p.Pro318His) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000329789]|not provided [RCV000903970] Chr15:45110515 [GRCh38]
Chr15:45402713 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.1302A>G (p.Arg434=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000272351]|not provided [RCV000957272] Chr15:45108885 [GRCh38]
Chr15:45401083 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000331780]|not provided [RCV002061182] Chr15:45095859 [GRCh38]
Chr15:45388057 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.2395C>T (p.Arg799Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000381160]|not provided [RCV000980562] Chr15:45104305 [GRCh38]
Chr15:45396503 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.*914G>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000272737] Chr15:45093236 [GRCh38]
Chr15:45385434 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3261G>A (p.Ala1087=) single nucleotide variant DUOX2-related condition [RCV003930358]|Thyroid dyshormonogenesis 6 [RCV000310693]|not provided [RCV000957271] Chr15:45099816 [GRCh38]
Chr15:45392014 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_001363711.2(DUOX2):c.*478G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000332367] Chr15:45093672 [GRCh38]
Chr15:45385870 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.*37C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000403452]|not provided [RCV001660653] Chr15:45094113 [GRCh38]
Chr15:45386311 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.4098G>A (p.Pro1366=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000274296]|not provided [RCV000908422] Chr15:45095578 [GRCh38]
Chr15:45387776 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.243G>A (p.Pro81=) single nucleotide variant DUOX2-related condition [RCV003940230]|Thyroid dyshormonogenesis 6 [RCV000274338]|not provided [RCV000884080] Chr15:45112636 [GRCh38]
Chr15:45404834 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.*624C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000293821] Chr15:45093526 [GRCh38]
Chr15:45385724 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3127G>A (p.Val1043Met) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000313471]|not provided [RCV001435423] Chr15:45100107 [GRCh38]
Chr15:45392305 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.-42C>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000259253] Chr15:45114000 [GRCh38]
Chr15:45406198 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4432C>T (p.Arg1478Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000360980]|not provided [RCV002520961] Chr15:45094655 [GRCh38]
Chr15:45386853 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.1911C>T (p.Ser637=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000361180]|not provided [RCV000913262] Chr15:45106562 [GRCh38]
Chr15:45398760 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.3081G>A (p.Lys1027=) single nucleotide variant DUOX2-related condition [RCV003910192]|Thyroid dyshormonogenesis 6 [RCV000259468]|not provided [RCV000971628] Chr15:45100153 [GRCh38]
Chr15:45392351 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.943+10C>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000295357]|not provided [RCV003765832] Chr15:45110640 [GRCh38]
Chr15:45402838 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.558C>T (p.Gly186=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000280244]|not provided [RCV000891157] Chr15:45111541 [GRCh38]
Chr15:45403739 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.*453T>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000389205] Chr15:45093697 [GRCh38]
Chr15:45385895 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.3050A>G (p.Glu1017Gly) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000298251]|not provided [RCV001523002]|not specified [RCV001699308] Chr15:45100184 [GRCh38]
Chr15:45392382 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) single nucleotide variant DUOX2-related condition [RCV003940229]|Inborn genetic diseases [RCV002520962]|Thyroid dyshormonogenesis 6 [RCV000316680]|not provided [RCV000951320]|not specified [RCV003987506] Chr15:45097255 [GRCh38]
Chr15:45389453 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.*432G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000278434] Chr15:45093718 [GRCh38]
Chr15:45385916 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.-75C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000281823] Chr15:45114033 [GRCh38]
Chr15:45406231 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.498C>A (p.Ser166Arg) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000341216]|not provided [RCV000524003] Chr15:45111783 [GRCh38]
Chr15:45403981 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3759G>A (p.Pro1253=) single nucleotide variant DUOX2-related condition [RCV003930357]|Thyroid dyshormonogenesis 6 [RCV000262709]|not provided [RCV000889478] Chr15:45097326 [GRCh38]
Chr15:45389524 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.314G>A (p.Gly105Glu) single nucleotide variant Congenital hypothyroidism [RCV000366565]|not provided [RCV002056463] Chr15:45112565 [GRCh38]
Chr15:45404763 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3689C>T (p.Ala1230Val) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000320218] Chr15:45097618 [GRCh38]
Chr15:45389816 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2703C>A (p.Ala901=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000320642]|not provided [RCV002056460] Chr15:45101941 [GRCh38]
Chr15:45394139 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3518C>T (p.Ser1173Phe) single nucleotide variant Inborn genetic diseases [RCV002522794]|Thyroid dyshormonogenesis 6 [RCV000342321]|not provided [RCV001850671] Chr15:45098056 [GRCh38]
Chr15:45390254 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) duplication Congenital hypothyroidism [RCV001270329]|DUOX2-related condition [RCV003909901]|Thyroid dyshormonogenesis 6 [RCV000604013]|not provided [RCV000339398] Chr15:45111496..45111497 [GRCh38]
Chr15:45403694..45403695 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.3483C>T (p.Ala1161=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000345731]|not provided [RCV000903969] Chr15:45099415 [GRCh38]
Chr15:45391613 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.2148+10G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000394170]|not provided [RCV000884078] Chr15:45106115 [GRCh38]
Chr15:45398313 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2544G>C (p.Leu848=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000324152]|not provided [RCV000971944]|not specified [RCV001699309] Chr15:45104156 [GRCh38]
Chr15:45396354 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2335-3C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000346393]|not provided [RCV002056462]|not specified [RCV000441807] Chr15:45104368 [GRCh38]
Chr15:45396566 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.4036A>G (p.Ile1346Val) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000369960]|not provided [RCV001859889] Chr15:45095872 [GRCh38]
Chr15:45388070 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.70+15C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000370415] Chr15:45113327 [GRCh38]
Chr15:45405525 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3098G>A (p.Arg1033His) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000370527]|not provided [RCV001859890] Chr15:45100136 [GRCh38]
Chr15:45392334 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4408C>A (p.Arg1470=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000395885]|not provided [RCV000889265] Chr15:45094679 [GRCh38]
Chr15:45386877 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.326-5C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000396030]|not provided [RCV001859892] Chr15:45111960 [GRCh38]
Chr15:45404158 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000348444]|not provided [RCV000909110]|not specified [RCV003230475] Chr15:45099845 [GRCh38]
Chr15:45392043 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.567C>T (p.His189=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000372368]|not provided [RCV000883234]|not specified [RCV001699448] Chr15:45111532 [GRCh38]
Chr15:45403730 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_001363711.2(DUOX2):c.377C>T (p.Ala126Val) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000306122] Chr15:45111904 [GRCh38]
Chr15:45404102 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*852T>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000327846] Chr15:45093298 [GRCh38]
Chr15:45385496 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.3820G>A (p.Val1274Met) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000373600] Chr15:45097265 [GRCh38]
Chr15:45389463 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3005+13C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000262944] Chr15:45100742 [GRCh38]
Chr15:45392940 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3558C>T (p.Thr1186=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000376628]|not provided [RCV000913261] Chr15:45098016 [GRCh38]
Chr15:45390214 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.2676C>A (p.Asn892Lys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000377615]|not provided [RCV000910655] Chr15:45101968 [GRCh38]
Chr15:45394166 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.325+13G>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000309464]|not provided [RCV003765833] Chr15:45112541 [GRCh38]
Chr15:45404739 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3041C>T (p.Ala1014Val) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000355380]|not provided [RCV001403250] Chr15:45100193 [GRCh38]
Chr15:45392391 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.633C>T (p.Phe211=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000334103]|not provided [RCV000879891] Chr15:45111466 [GRCh38]
Chr15:45403664 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.*227C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000335720] Chr15:45093923 [GRCh38]
Chr15:45386121 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2212G>A (p.Val738Met) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000335808]|not provided [RCV002522795] Chr15:45105765 [GRCh38]
Chr15:45397963 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2593A>C (p.Thr865Pro) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000266724] Chr15:45104021 [GRCh38]
Chr15:45396219 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*1315A>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000266796] Chr15:45092835 [GRCh38]
Chr15:45385033 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.533G>T (p.Trp178Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000337668]|not provided [RCV000493682] Chr15:45111566 [GRCh38]
Chr15:45403764 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2335-8G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000384678]|not provided [RCV002061183] Chr15:45104373 [GRCh38]
Chr15:45396571 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.944-10C>T single nucleotide variant Congenital hypothyroidism [RCV000387382]|not provided [RCV003660778] Chr15:45110534 [GRCh38]
Chr15:45402732 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.4619A>C (p.His1540Pro) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000339119]|not provided [RCV001850670] Chr15:45094178 [GRCh38]
Chr15:45386376 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*722G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000387062] Chr15:45093428 [GRCh38]
Chr15:45385626 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.4171C>G (p.Pro1391Ala) single nucleotide variant Nongoitrous Euthyroid Hyperthyrotropinemia [RCV000755101]|Thyroid dyshormonogenesis 6 [RCV000364563] Chr15:45095505 [GRCh38]
Chr15:45387703 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.602G>A (p.Gly201Glu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121590]|not provided [RCV000522623] Chr15:45111497 [GRCh38]
Chr15:45403695 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) single nucleotide variant DUOX2-related condition [RCV003417764]|Familial thyroid dyshormonogenesis [RCV000614180]|Inborn genetic diseases [RCV002515593]|Nongoitrous Euthyroid Hyperthyrotropinemia [RCV000755103]|Thyroid dyshormonogenesis 6 [RCV000490324]|not provided [RCV001582720] Chr15:45108159 [GRCh38]
Chr15:45400357 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000490414]|not provided [RCV001853383] Chr15:45103961 [GRCh38]
Chr15:45396159 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001363711.2(DUOX2):c.*1230C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000362681] Chr15:45092920 [GRCh38]
Chr15:45385118 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.341C>A (p.Ser114Tyr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000363177]|not provided [RCV001859891] Chr15:45111940 [GRCh38]
Chr15:45404138 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.202G>T (p.Gly68Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000332058] Chr15:45112677 [GRCh38]
Chr15:45404875 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.-46A>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000316777] Chr15:45114004 [GRCh38]
Chr15:45406202 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3416-7C>G single nucleotide variant Congenital hypothyroidism [RCV000403300] Chr15:45099489 [GRCh38]
Chr15:45391687 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.513+8G>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000405396]|not provided [RCV003688838] Chr15:45111760 [GRCh38]
Chr15:45403958 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.4383G>A (p.Arg1461=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000307622]|not provided [RCV002056458] Chr15:45094948 [GRCh38]
Chr15:45387146 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2257G>A (p.Glu753Lys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000297325] Chr15:45105720 [GRCh38]
Chr15:45397918 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3494C>T (p.Pro1165Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000288382] Chr15:45099404 [GRCh38]
Chr15:45391602 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.-47G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000373987] Chr15:45114005 [GRCh38]
Chr15:45406203 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*1244T>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000326497] Chr15:45092906 [GRCh38]
Chr15:45385104 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3808G>C (p.Val1270Leu) single nucleotide variant not provided [RCV001760627] Chr15:45097277 [GRCh38]
Chr15:45389475 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*1357A>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000361295] Chr15:45092793 [GRCh38]
Chr15:45384991 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1085_1103dup (p.Val369fs) duplication not provided [RCV000592306] Chr15:45109917..45109918 [GRCh38]
Chr15:45402115..45402116 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001170071]|not provided [RCV001873569] Chr15:45108877 [GRCh38]
Chr15:45401075 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp) single nucleotide variant not provided [RCV001565421] Chr15:45101919 [GRCh38]
Chr15:45394117 [GRCh37]
Chr15:15q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.1015A>G (p.Met339Val) single nucleotide variant not provided [RCV001760626] Chr15:45110453 [GRCh38]
Chr15:45402651 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)x1 copy number loss See cases [RCV000447035] Chr15:42850434..49592633 [GRCh37]
Chr15:15q15.2-21.2		 pathogenic
NM_001363711.2(DUOX2):c.2504G>A (p.Gly835Asp) single nucleotide variant not provided [RCV000442020] Chr15:45104196 [GRCh38]
Chr15:45396394 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116713]|not provided [RCV000424155] Chr15:45111769 [GRCh38]
Chr15:45403967 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.3516-1G>C single nucleotide variant not provided [RCV000424876] Chr15:45098059 [GRCh38]
Chr15:45390257 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.3416-2A>C single nucleotide variant not provided [RCV000435690] Chr15:45099484 [GRCh38]
Chr15:45391682 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2564C>T (p.Ser855Phe) single nucleotide variant not provided [RCV000422975] Chr15:45104050 [GRCh38]
Chr15:45396248 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3 copy number gain See cases [RCV000447851] Chr15:45056077..45772114 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002250638]|not provided [RCV000482059] Chr15:45099748 [GRCh38]
Chr15:45391946 [GRCh37]
Chr15:15q21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) deletion Thyroid dyshormonogenesis 6 [RCV000778432]|not provided [RCV000484264] Chr15:45099737 [GRCh38]
Chr15:45391935 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) single nucleotide variant DUOX2-related condition [RCV003401514]|Thyroid dyshormonogenesis 6 [RCV000765214]|not provided [RCV000954483]|not specified [RCV000485532] Chr15:45106552 [GRCh38]
Chr15:45398750 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.2793_2796delinsCAAT (p.Asp932Asn) indel not specified [RCV000482133] Chr15:45101848..45101851 [GRCh38]
Chr15:45394046..45394049 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1478del (p.His493fs) deletion not provided [RCV000478439] Chr15:45108143 [GRCh38]
Chr15:45400341 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.3656G>A (p.Trp1219Ter) single nucleotide variant not provided [RCV000486322] Chr15:45097651 [GRCh38]
Chr15:45389849 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2922-14_2925del deletion not provided [RCV000486362] Chr15:45100835..45100852 [GRCh38]
Chr15:45393033..45393050 [GRCh37]
Chr15:15q21.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3 copy number gain See cases [RCV000510282] Chr15:45056077..45772114 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3383G>A (p.Arg1128His) single nucleotide variant Inborn genetic diseases [RCV002524072]|Thyroid dyshormonogenesis 6 [RCV002496906]|not provided [RCV000497342] Chr15:45099694 [GRCh38]
Chr15:45391892 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4075C>A (p.Pro1359Thr) single nucleotide variant not provided [RCV000497375] Chr15:45095833 [GRCh38]
Chr15:45388031 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile) single nucleotide variant Inborn genetic diseases [RCV000624876]|Thyroid dyshormonogenesis 6 [RCV001116394]|not provided [RCV001480879] Chr15:45098015 [GRCh38]
Chr15:45390213 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_001363711.2(DUOX2):c.671C>T (p.Ala224Val) single nucleotide variant Inborn genetic diseases [RCV003258381] Chr15:45111428 [GRCh38]
Chr15:45403626 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3416-13C>T single nucleotide variant not specified [RCV000612175] Chr15:45099495 [GRCh38]
Chr15:45391693 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3449A>G (p.Tyr1150Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000660615]|not provided [RCV001314150] Chr15:45099449 [GRCh38]
Chr15:45391647 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2 copy number loss not provided [RCV000659227] Chr15:45360338..45437443 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3845C>G (p.Ser1282Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001781008] Chr15:45097240 [GRCh38]
Chr15:45389438 [GRCh37]
Chr15:15q21.1		 likely pathogenic
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3		 pathogenic
NC_000015.9:g.(?_45152372)_(45670671_?)dup duplication Arginine:glycine amidinotransferase deficiency [RCV000708477] Chr15:44860174..45378473 [GRCh38]
Chr15:45152372..45670671 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) single nucleotide variant Nongoitrous Euthyroid Hyperthyrotropinemia [RCV000755099]|Thyroid dyshormonogenesis 6 [RCV000778437]|not provided [RCV002533117] Chr15:45106327 [GRCh38]
Chr15:45398525 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) single nucleotide variant DUOX2-related condition [RCV003975299]|Nongoitrous Euthyroid Hyperthyrotropinemia [RCV000755100]|Thyroid dyshormonogenesis 6 [RCV000778436]|not provided [RCV000890156] Chr15:45103960 [GRCh38]
Chr15:45396158 [GRCh37]
Chr15:15q21.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 15q21.1(chr15:45142419-45889706)x3 copy number gain not provided [RCV000751298] Chr15:45142419..45889706 [GRCh37]
Chr15:15q21.1		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_001363711.2(DUOX2):c.598G>C (p.Gly200Arg) single nucleotide variant not provided [RCV001531205] Chr15:45111501 [GRCh38]
Chr15:45403699 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.70+77C>A single nucleotide variant not provided [RCV001644477] Chr15:45113265 [GRCh38]
Chr15:45405463 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) deletion Thyroid dyshormonogenesis 6 [RCV001645013]|not provided [RCV002466663] Chr15:45111478..45111494 [GRCh38]
Chr15:45403676..45403692 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.325+59G>A single nucleotide variant not provided [RCV001668733] Chr15:45112495 [GRCh38]
Chr15:45404693 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1095A>G (p.Gln365=) single nucleotide variant not provided [RCV000894078] Chr15:45109926 [GRCh38]
Chr15:45402124 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1399-29C>T single nucleotide variant not provided [RCV001576708] Chr15:45108251 [GRCh38]
Chr15:45400449 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3515+126T>C single nucleotide variant not provided [RCV001682209] Chr15:45099257 [GRCh38]
Chr15:45391455 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.325+243C>T single nucleotide variant not provided [RCV001581256] Chr15:45112311 [GRCh38]
Chr15:45404509 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4408C>T (p.Arg1470Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116293]|not provided [RCV002556460] Chr15:45094679 [GRCh38]
Chr15:45386877 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.1693+177C>T single nucleotide variant not provided [RCV001549722] Chr15:45107168 [GRCh38]
Chr15:45399366 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3185-9C>T single nucleotide variant DUOX2-related condition [RCV003955820]|Thyroid dyshormonogenesis 6 [RCV001119402]|not provided [RCV000880962] Chr15:45099901 [GRCh38]
Chr15:45392099 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3615C>T (p.Phe1205=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121310]|not provided [RCV000900660] Chr15:45097692 [GRCh38]
Chr15:45389890 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3066C>T (p.Gly1022=) single nucleotide variant not provided [RCV000943046] Chr15:45100168 [GRCh38]
Chr15:45392366 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001118047]|not provided [RCV000923070] Chr15:45108836 [GRCh38]
Chr15:45401034 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.1197G>A (p.Ser399=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001118048]|not provided [RCV000923071] Chr15:45109561 [GRCh38]
Chr15:45401759 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.3390C>T (p.Ile1130=) single nucleotide variant not provided [RCV000907080] Chr15:45099687 [GRCh38]
Chr15:45391885 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2704G>A (p.Glu902Lys) single nucleotide variant DUOX2-related condition [RCV003960521]|not provided [RCV000936428] Chr15:45101940 [GRCh38]
Chr15:45394138 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3856T>C (p.Tyr1286His) single nucleotide variant DUOX2-related condition [RCV003948292]|not provided [RCV000879869] Chr15:45096052 [GRCh38]
Chr15:45388250 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3055A>G (p.Met1019Val) single nucleotide variant DUOX2-related condition [RCV003948293]|not provided [RCV000879870] Chr15:45100179 [GRCh38]
Chr15:45392377 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr) single nucleotide variant not provided [RCV000899579] Chr15:45106540 [GRCh38]
Chr15:45398738 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_001363711.2(DUOX2):c.2335-9C>T single nucleotide variant not provided [RCV000899791] Chr15:45104374 [GRCh38]
Chr15:45396572 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.204T>G (p.Gly68=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119706]|not provided [RCV000904850] Chr15:45112675 [GRCh38]
Chr15:45404873 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.1693+9C>T single nucleotide variant not provided [RCV000926433] Chr15:45107336 [GRCh38]
Chr15:45399534 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4561G>T (p.Gly1521Ter) single nucleotide variant DUOX2-related condition [RCV003938157]|Thyroid dyshormonogenesis 6 [RCV000779163] Chr15:45094236 [GRCh38]
Chr15:45386434 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) deletion Thyroid dyshormonogenesis 6 [RCV000779164]|not provided [RCV001873181] Chr15:45097640 [GRCh38]
Chr15:45389838 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) indel Thyroid dyshormonogenesis 6 [RCV000779166]|not provided [RCV003768440] Chr15:45110489..45110490 [GRCh38]
Chr15:45402687..45402688 [GRCh37]
Chr15:15q21.1		 pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.199G>A (p.Asp67Asn) single nucleotide variant not specified [RCV000781339] Chr15:45112680 [GRCh38]
Chr15:45404878 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs) deletion Thyroid dyshormonogenesis 6 [RCV000781340] Chr15:45111929..45111936 [GRCh38]
Chr15:45404127..45404134 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000778433]|not provided [RCV001042121] Chr15:45099827 [GRCh38]
Chr15:45392025 [GRCh37]
Chr15:15q21.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) single nucleotide variant Congenital hypothyroidism [RCV001270331]|Inborn genetic diseases [RCV001266713]|Thyroid dyshormonogenesis 6 [RCV000778434]|not provided [RCV000898948] Chr15:45100079 [GRCh38]
Chr15:45392277 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.3116G>A (p.Arg1039Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000778435]|not provided [RCV001856158]|not specified [RCV003235393] Chr15:45100118 [GRCh38]
Chr15:45392316 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) deletion Thyroid dyshormonogenesis 6 [RCV000778438]|not provided [RCV001856159] Chr15:45106590 [GRCh38]
Chr15:45398788 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.1317C>G (p.Pro439=) single nucleotide variant not provided [RCV000917999] Chr15:45108870 [GRCh38]
Chr15:45401068 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2950G>T (p.Ala984Ser) single nucleotide variant not provided [RCV000895254] Chr15:45100810 [GRCh38]
Chr15:45393008 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_001363711.2(DUOX2):c.2196G>A (p.Gln732=) single nucleotide variant not provided [RCV000920597] Chr15:45105781 [GRCh38]
Chr15:45397979 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1089C>T (p.Ser363=) single nucleotide variant not provided [RCV000918221] Chr15:45109932 [GRCh38]
Chr15:45402130 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3714T>C (p.Tyr1238=) single nucleotide variant not provided [RCV000879704] Chr15:45097371 [GRCh38]
Chr15:45389569 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3921C>T (p.Cys1307=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119289]|not provided [RCV000918507] Chr15:45095987 [GRCh38]
Chr15:45388185 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3540T>C (p.Tyr1180=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116395]|not provided [RCV000925764] Chr15:45098034 [GRCh38]
Chr15:45390232 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2814G>A (p.Thr938=) single nucleotide variant not provided [RCV000909111] Chr15:45101830 [GRCh38]
Chr15:45394028 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4603A>C (p.Arg1535=) single nucleotide variant not provided [RCV000915026] Chr15:45094194 [GRCh38]
Chr15:45386392 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4242C>T (p.Ile1414=) single nucleotide variant not provided [RCV000902491] Chr15:45095089 [GRCh38]
Chr15:45387287 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3793C>T (p.Leu1265=) single nucleotide variant not provided [RCV000896538] Chr15:45097292 [GRCh38]
Chr15:45389490 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1515C>T (p.Leu505=) single nucleotide variant not provided [RCV000916413] Chr15:45108106 [GRCh38]
Chr15:45400304 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3185-8G>A single nucleotide variant not provided [RCV000891718] Chr15:45099900 [GRCh38]
Chr15:45392098 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002495090]|not provided [RCV000803878] Chr15:45101979 [GRCh38]
Chr15:45394177 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.513+1G>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000791200]|not provided [RCV002535837] Chr15:45111767 [GRCh38]
Chr15:45403965 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.4393C>T (p.Leu1465=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117733] Chr15:45094938 [GRCh38]
Chr15:45387136 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q21.1(chr15:45063803-45772378)x3 copy number gain not provided [RCV000846392] Chr15:45063803..45772378 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4433G>A (p.Arg1478Gln) single nucleotide variant Inborn genetic diseases [RCV002556293]|Thyroid dyshormonogenesis 6 [RCV001116291]|not provided [RCV002556294] Chr15:45094654 [GRCh38]
Chr15:45386852 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*591C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117624] Chr15:45093559 [GRCh38]
Chr15:45385757 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4405G>A (p.Glu1469Lys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116294]|not provided [RCV002556461] Chr15:45094682 [GRCh38]
Chr15:45386880 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4232G>A (p.Cys1411Tyr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117734] Chr15:45095444 [GRCh38]
Chr15:45387642 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1836T>C (p.Ser612=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116596]|not provided [RCV001488177] Chr15:45106637 [GRCh38]
Chr15:45398835 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.*418T>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119215] Chr15:45093732 [GRCh38]
Chr15:45385930 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1461G>T (p.Gly487=) single nucleotide variant DUOX2-related condition [RCV003918702]|Thyroid dyshormonogenesis 6 [RCV001118045]|not provided [RCV001856552] Chr15:45108160 [GRCh38]
Chr15:45400358 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp) single nucleotide variant Inborn genetic diseases [RCV002556509]|Thyroid dyshormonogenesis 6 [RCV001118046]|not provided [RCV001759885] Chr15:45108206 [GRCh38]
Chr15:45400404 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*1145C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116187] Chr15:45093005 [GRCh38]
Chr15:45385203 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4474C>T (p.Arg1492Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116290]|not provided [RCV002556292] Chr15:45094613 [GRCh38]
Chr15:45386811 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4396-15C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116295]|not provided [RCV003558678] Chr15:45094706 [GRCh38]
Chr15:45386904 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3179C>T (p.Ala1060Val) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119403]|not provided [RCV002069939] Chr15:45100055 [GRCh38]
Chr15:45392253 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.1869G>A (p.Arg623=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116595]|not provided [RCV003708570] Chr15:45106604 [GRCh38]
Chr15:45398802 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2334+4C>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119491] Chr15:45105639 [GRCh38]
Chr15:45397837 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*405T>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119217] Chr15:45093745 [GRCh38]
Chr15:45385943 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.252C>G (p.Leu84=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119705] Chr15:45112627 [GRCh38]
Chr15:45404825 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.163T>C (p.Cys55Arg) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119707]|not provided [RCV001856569] Chr15:45112716 [GRCh38]
Chr15:45404914 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.160+5G>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119708]|not provided [RCV003718340] Chr15:45112982 [GRCh38]
Chr15:45405180 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001170067] Chr15:45100119 [GRCh38]
Chr15:45392317 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001170072] Chr15:45110479 [GRCh38]
Chr15:45402677 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2597T>G (p.Met866Arg) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116496]|not provided [RCV001306629] Chr15:45104017 [GRCh38]
Chr15:45396215 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2574T>C (p.Asp858=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116498] Chr15:45104040 [GRCh38]
Chr15:45396238 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*778C>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117621] Chr15:45093372 [GRCh38]
Chr15:45385570 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*585A>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117625] Chr15:45093565 [GRCh38]
Chr15:45385763 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*417A>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119216] Chr15:45093733 [GRCh38]
Chr15:45385931 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3906G>C (p.Trp1302Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119291] Chr15:45096002 [GRCh38]
Chr15:45388200 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3315C>T (p.Leu1105=) single nucleotide variant not provided [RCV000914151] Chr15:45099762 [GRCh38]
Chr15:45391960 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4631A>G (p.His1544Arg) single nucleotide variant Inborn genetic diseases [RCV003241039] Chr15:45094166 [GRCh38]
Chr15:45386364 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*765C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117622] Chr15:45093385 [GRCh38]
Chr15:45385583 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1949T>C (p.Met650Thr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121494]|not provided [RCV001856601] Chr15:45106324 [GRCh38]
Chr15:45398522 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.-14-6C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121687] Chr15:45113431 [GRCh38]
Chr15:45405629 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.317T>C (p.Val106Ala) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001118155] Chr15:45112562 [GRCh38]
Chr15:45404760 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3515+8C>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116396] Chr15:45099375 [GRCh38]
Chr15:45391573 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1786C>T (p.Pro596Ser) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116597]|not provided [RCV001638039] Chr15:45106877 [GRCh38]
Chr15:45399075 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.514-14C>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116712] Chr15:45111599 [GRCh38]
Chr15:45403797 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1027G>A (p.Gly343Ser) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119589]|not provided [RCV001882388] Chr15:45110441 [GRCh38]
Chr15:45402639 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.883-13C>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119593]|not provided [RCV002556552] Chr15:45110723 [GRCh38]
Chr15:45402921 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3933G>A (p.Gly1311=) single nucleotide variant not provided [RCV003104522] Chr15:45095975 [GRCh38]
Chr15:45388173 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2759C>T (p.Thr920Ile) single nucleotide variant not provided [RCV003104415] Chr15:45101885 [GRCh38]
Chr15:45394083 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_45152372)_(45670651_?)dup duplication Arginine:glycine amidinotransferase deficiency [RCV003107422] Chr15:45152372..45670651 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2851+61C>T single nucleotide variant not provided [RCV001658561] Chr15:45101732 [GRCh38]
Chr15:45393930 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+81A>G single nucleotide variant not provided [RCV001652973] Chr15:45107966 [GRCh38]
Chr15:45400164 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3515+208A>G single nucleotide variant not provided [RCV001591465] Chr15:45099175 [GRCh38]
Chr15:45391373 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1574+156_1574+160dup duplication not provided [RCV001681197] Chr15:45107886..45107887 [GRCh38]
Chr15:45400084..45400085 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1399-195dup duplication not provided [RCV001598756] Chr15:45108415..45108416 [GRCh38]
Chr15:45400613..45400614 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.883-188A>C single nucleotide variant not provided [RCV001661140] Chr15:45110898 [GRCh38]
Chr15:45403096 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.715G>A (p.Ala239Thr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002283595] Chr15:45111384 [GRCh38]
Chr15:45403582 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4239+85T>C single nucleotide variant not provided [RCV001696483] Chr15:45095352 [GRCh38]
Chr15:45387550 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.160+39C>A single nucleotide variant not provided [RCV001614260] Chr15:45112948 [GRCh38]
Chr15:45405146 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2334+275C>G single nucleotide variant not provided [RCV001685744] Chr15:45105368 [GRCh38]
Chr15:45397566 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3006-91G>T single nucleotide variant not provided [RCV001711019] Chr15:45100319 [GRCh38]
Chr15:45392517 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2851+252G>A single nucleotide variant not provided [RCV001656939] Chr15:45101541 [GRCh38]
Chr15:45393739 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2149G>C (p.Val717Leu) single nucleotide variant not provided [RCV001531204] Chr15:45105828 [GRCh38]
Chr15:45398026 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1621C>A (p.Arg541=) single nucleotide variant DUOX2-related condition [RCV003958315]|not provided [RCV000910601] Chr15:45107417 [GRCh38]
Chr15:45399615 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1428C>A (p.Asn476Lys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002495398]|not provided [RCV000892163] Chr15:45108193 [GRCh38]
Chr15:45400391 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3831G>A (p.Ala1277=) single nucleotide variant not provided [RCV000925419] Chr15:45097254 [GRCh38]
Chr15:45389452 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.414C>T (p.Pro138=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116714]|not provided [RCV000930979] Chr15:45111867 [GRCh38]
Chr15:45404065 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.4575T>C (p.Asn1525=) single nucleotide variant not provided [RCV000975263] Chr15:45094222 [GRCh38]
Chr15:45386420 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3367G>A (p.Ala1123Thr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117842]|not provided [RCV000960794] Chr15:45099710 [GRCh38]
Chr15:45391908 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.726A>G (p.Ala242=) single nucleotide variant not provided [RCV000960795] Chr15:45111267 [GRCh38]
Chr15:45403465 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1946-4C>A single nucleotide variant not provided [RCV000894376] Chr15:45106331 [GRCh38]
Chr15:45398529 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.700C>T (p.Pro234Ser) single nucleotide variant Inborn genetic diseases [RCV002539321]|Thyroid dyshormonogenesis 6 [RCV002487938]|not provided [RCV000884053] Chr15:45111399 [GRCh38]
Chr15:45403597 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.888C>T (p.Ile296=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119592]|not provided [RCV000887447] Chr15:45110705 [GRCh38]
Chr15:45402903 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.381G>A (p.Glu127=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001118154]|not provided [RCV000884079] Chr15:45111900 [GRCh38]
Chr15:45404098 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.514-4G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116711]|not provided [RCV000886236] Chr15:45111589 [GRCh38]
Chr15:45403787 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001781009] Chr15:45097620 [GRCh38]
Chr15:45389818 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3273C>G (p.Ser1091=) single nucleotide variant not provided [RCV000926382] Chr15:45099804 [GRCh38]
Chr15:45392002 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2835A>G (p.Gly945=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121401]|not provided [RCV000953337] Chr15:45101809 [GRCh38]
Chr15:45394007 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.3042G>A (p.Ala1014=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121398]|not provided [RCV000973525] Chr15:45100192 [GRCh38]
Chr15:45392390 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.1239C>T (p.Tyr413=) single nucleotide variant not provided [RCV000981815] Chr15:45108948 [GRCh38]
Chr15:45401146 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121493]|not provided [RCV000929394] Chr15:45106225 [GRCh38]
Chr15:45398423 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.303C>A (p.Arg101=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001118156]|not provided [RCV000952737]|not specified [RCV001700521] Chr15:45112576 [GRCh38]
Chr15:45404774 [GRCh37]
Chr15:15q21.1		 benign|likely benign
NM_001363711.2(DUOX2):c.597G>C (p.Ser199=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121592]|not provided [RCV000908967]|not specified [RCV001701248] Chr15:45111502 [GRCh38]
Chr15:45403700 [GRCh37]
Chr15:15q21.1		 benign|likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3435C>T (p.His1145=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117840]|not provided [RCV000955491] Chr15:45099463 [GRCh38]
Chr15:45391661 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.3660G>A (p.Leu1220=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121309]|not provided [RCV002069970] Chr15:45097647 [GRCh38]
Chr15:45389845 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln) single nucleotide variant DUOX2-related condition [RCV003413924]|Thyroid dyshormonogenesis 6 [RCV001121400]|not provided [RCV001402830] Chr15:45101220 [GRCh38]
Chr15:45393418 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.841C>T (p.Leu281=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121589] Chr15:45111152 [GRCh38]
Chr15:45403350 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) single nucleotide variant Congenital hypothyroidism [RCV001270330]|Thyroid dyshormonogenesis 6 [RCV001121591]|not provided [RCV001700700]|not specified [RCV002249732] Chr15:45111501 [GRCh38]
Chr15:45403699 [GRCh37]
Chr15:15q21.1		 pathogenic|likely benign|uncertain significance
NM_001363711.2(DUOX2):c.70+15C>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121685]|not provided [RCV002069977] Chr15:45113327 [GRCh38]
Chr15:45405525 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.*1203C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116186] Chr15:45092947 [GRCh38]
Chr15:45385145 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*1064G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116188] Chr15:45093086 [GRCh38]
Chr15:45385284 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*857G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116189] Chr15:45093293 [GRCh38]
Chr15:45385491 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2634C>T (p.Asp878=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116494]|not provided [RCV002069877] Chr15:45103980 [GRCh38]
Chr15:45396178 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.*665G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117623] Chr15:45093485 [GRCh38]
Chr15:45385683 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4080+6C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117737]|not provided [RCV001856546] Chr15:45095822 [GRCh38]
Chr15:45388020 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2529G>A (p.Glu843=) single nucleotide variant not provided [RCV000890073] Chr15:45104171 [GRCh38]
Chr15:45396369 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1131+8T>C single nucleotide variant not provided [RCV000913345] Chr15:45109882 [GRCh38]
Chr15:45402080 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1056T>C (p.His352=) single nucleotide variant not provided [RCV000935914] Chr15:45109965 [GRCh38]
Chr15:45402163 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4080+7G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117736]|not provided [RCV000957936] Chr15:45095821 [GRCh38]
Chr15:45388019 [GRCh37]
Chr15:15q21.1		 benign|uncertain significance
NM_001363711.2(DUOX2):c.1731C>T (p.Asp577=) single nucleotide variant not provided [RCV000889517] Chr15:45106932 [GRCh38]
Chr15:45399130 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4452G>C (p.Leu1484=) single nucleotide variant not provided [RCV000912284] Chr15:45094635 [GRCh38]
Chr15:45386833 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4207T>A (p.Ser1403Thr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117735]|not provided [RCV000913260] Chr15:45095469 [GRCh38]
Chr15:45387667 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.462G>A (p.Arg154=) single nucleotide variant not provided [RCV000889761] Chr15:45111819 [GRCh38]
Chr15:45404017 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3515+82G>A single nucleotide variant not provided [RCV001620768] Chr15:45099301 [GRCh38]
Chr15:45391499 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2149-63G>C single nucleotide variant not provided [RCV001661064] Chr15:45105891 [GRCh38]
Chr15:45398089 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2785C>T (p.Arg929Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV000989306]|not provided [RCV001858705] Chr15:45101859 [GRCh38]
Chr15:45394057 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2546T>C (p.Val849Ala) single nucleotide variant not provided [RCV003234266] Chr15:45104154 [GRCh38]
Chr15:45396352 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1040+197A>C single nucleotide variant not provided [RCV001555659] Chr15:45110231 [GRCh38]
Chr15:45402429 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2123T>G (p.Leu708Arg) single nucleotide variant Inborn genetic diseases [RCV003276150] Chr15:45106150 [GRCh38]
Chr15:45398348 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2654+256del deletion not provided [RCV001608240] Chr15:45103704 [GRCh38]
Chr15:45395902 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1234+86G>A single nucleotide variant not provided [RCV001608255] Chr15:45109438 [GRCh38]
Chr15:45401636 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2335-49A>G single nucleotide variant not provided [RCV001608722] Chr15:45104414 [GRCh38]
Chr15:45396612 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.4081-106A>G single nucleotide variant not provided [RCV001656106] Chr15:45095701 [GRCh38]
Chr15:45387899 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.325+53G>A single nucleotide variant not provided [RCV001564921] Chr15:45112501 [GRCh38]
Chr15:45404699 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2655-219C>T single nucleotide variant not provided [RCV001688863] Chr15:45102208 [GRCh38]
Chr15:45394406 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+231T>G single nucleotide variant not provided [RCV001593952] Chr15:45107816 [GRCh38]
Chr15:45400014 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.883-129C>T single nucleotide variant not provided [RCV001590042] Chr15:45110839 [GRCh38]
Chr15:45403037 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1234+170del deletion not provided [RCV001669534] Chr15:45109354 [GRCh38]
Chr15:45401552 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1694-144G>A single nucleotide variant not provided [RCV001617994] Chr15:45107113 [GRCh38]
Chr15:45399311 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1399-30G>A single nucleotide variant not provided [RCV001715934] Chr15:45108252 [GRCh38]
Chr15:45400450 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3005+141C>T single nucleotide variant not provided [RCV001677128] Chr15:45100614 [GRCh38]
Chr15:45392812 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1693+76T>C single nucleotide variant not provided [RCV001635910] Chr15:45107269 [GRCh38]
Chr15:45399467 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.882+36G>T single nucleotide variant not provided [RCV001654892] Chr15:45111075 [GRCh38]
Chr15:45403273 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3297C>T (p.Leu1099=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117843]|not provided [RCV002069902] Chr15:45099780 [GRCh38]
Chr15:45391978 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.*1352G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121091] Chr15:45092798 [GRCh38]
Chr15:45384996 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4537G>A (p.Gly1513Arg) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121215]|not provided [RCV002558201] Chr15:45094260 [GRCh38]
Chr15:45386458 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*475G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119214] Chr15:45093675 [GRCh38]
Chr15:45385873 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.925del (p.Thr309fs) deletion not provided [RCV001093326] Chr15:45110668 [GRCh38]
Chr15:45402866 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2313C>G (p.Phe771Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119492] Chr15:45105664 [GRCh38]
Chr15:45397862 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119588]|not provided [RCV001451380] Chr15:45109569 [GRCh38]
Chr15:45401767 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.*1428G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121090] Chr15:45092722 [GRCh38]
Chr15:45384920 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3807G>T (p.Lys1269Asn) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121307] Chr15:45097278 [GRCh38]
Chr15:45389476 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001175130]|not provided [RCV001875773] Chr15:45095828 [GRCh38]
Chr15:45388026 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.4524+105A>C single nucleotide variant not provided [RCV001610935] Chr15:45094458 [GRCh38]
Chr15:45386656 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1041-141A>G single nucleotide variant not provided [RCV001680749] Chr15:45110121 [GRCh38]
Chr15:45402319 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+161del deletion not provided [RCV001645982] Chr15:45107886 [GRCh38]
Chr15:45400084 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+160_1574+161insTCTTTTCTTTT microsatellite not provided [RCV001707451] Chr15:45107886..45107887 [GRCh38]
Chr15:45400084..45400085 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.71-49G>T single nucleotide variant not provided [RCV001648052] Chr15:45113125 [GRCh38]
Chr15:45405323 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2148+92A>C single nucleotide variant not provided [RCV001612144] Chr15:45106033 [GRCh38]
Chr15:45398231 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2852-195T>C single nucleotide variant not provided [RCV001612180] Chr15:45101469 [GRCh38]
Chr15:45393667 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.715+25del deletion not provided [RCV001612437] Chr15:45111359 [GRCh38]
Chr15:45403557 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3848-137C>T single nucleotide variant not provided [RCV001651853] Chr15:45096197 [GRCh38]
Chr15:45388395 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+175_1574+176dup duplication not provided [RCV001670673] Chr15:45107850..45107851 [GRCh38]
Chr15:45400048..45400049 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1399-192G>C single nucleotide variant not provided [RCV001696643] Chr15:45108414 [GRCh38]
Chr15:45400612 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3848-124G>A single nucleotide variant not provided [RCV001668815] Chr15:45096184 [GRCh38]
Chr15:45388382 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+253A>G single nucleotide variant not provided [RCV001713945] Chr15:45107794 [GRCh38]
Chr15:45399992 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2654+246dup duplication not provided [RCV001574576] Chr15:45103703..45103704 [GRCh38]
Chr15:45395901..45395902 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1774G>A (p.Glu592Lys) single nucleotide variant Inborn genetic diseases [RCV002556468]|Thyroid dyshormonogenesis 6 [RCV001116598] Chr15:45106889 [GRCh38]
Chr15:45399087 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117841]|not provided [RCV001531203] Chr15:45099686 [GRCh38]
Chr15:45391884 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2412C>T (p.Cys804=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117943]|not provided [RCV001441276] Chr15:45104288 [GRCh38]
Chr15:45396486 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2335G>A (p.Val779Met) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117944]|not provided [RCV001299616] Chr15:45104365 [GRCh38]
Chr15:45396563 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003448376]|not provided [RCV001200099] Chr15:45099749 [GRCh38]
Chr15:45391947 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.*353G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119218] Chr15:45093797 [GRCh38]
Chr15:45385995 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119287]|not provided [RCV002069935] Chr15:45095881 [GRCh38]
Chr15:45388079 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.3910C>T (p.Arg1304Trp) single nucleotide variant Inborn genetic diseases [RCV002556544]|Thyroid dyshormonogenesis 6 [RCV001119290] Chr15:45095998 [GRCh38]
Chr15:45388196 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3968C>A (p.Ala1323Glu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119288]|not provided [RCV002556543] Chr15:45095940 [GRCh38]
Chr15:45388138 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119404]|not provided [RCV001464902] Chr15:45100131 [GRCh38]
Chr15:45392329 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.160G>T (p.Gly54Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119709] Chr15:45112987 [GRCh38]
Chr15:45405185 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2806C>T (p.Arg936Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121402]|not provided [RCV001856598] Chr15:45101838 [GRCh38]
Chr15:45394036 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4409G>A (p.Arg1470Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116292]|not provided [RCV001862895] Chr15:45094678 [GRCh38]
Chr15:45386876 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2609A>G (p.Asp870Gly) single nucleotide variant Inborn genetic diseases [RCV002556463]|Thyroid dyshormonogenesis 6 [RCV001116495] Chr15:45104005 [GRCh38]
Chr15:45396203 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*72T>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121214] Chr15:45094078 [GRCh38]
Chr15:45386276 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2176C>T (p.Arg726Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121492]|not provided [RCV001349270] Chr15:45105801 [GRCh38]
Chr15:45397999 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.380_381del (p.Glu127fs) deletion not provided [RCV001008558] Chr15:45111900..45111901 [GRCh38]
Chr15:45404098..45404099 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2427C>T (p.Ala809=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001117942]|not provided [RCV001856549] Chr15:45104273 [GRCh38]
Chr15:45396471 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.*344A>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119219] Chr15:45093806 [GRCh38]
Chr15:45386004 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119590] Chr15:45110509 [GRCh38]
Chr15:45402707 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.299A>G (p.Asn100Ser) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001119704] Chr15:45112580 [GRCh38]
Chr15:45404778 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*1438G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121088] Chr15:45092712 [GRCh38]
Chr15:45384910 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.*1437C>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121089] Chr15:45092713 [GRCh38]
Chr15:45384911 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3667C>G (p.His1223Asp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121308]|not provided [RCV002556610] Chr15:45097640 [GRCh38]
Chr15:45389838 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2583T>A (p.Arg861=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001116497]|not provided [RCV003769153] Chr15:45104031 [GRCh38]
Chr15:45396229 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.70+2C>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001121686] Chr15:45113340 [GRCh38]
Chr15:45405538 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q21.1(chr15:45056077-45772378)x3 copy number gain not provided [RCV001259210] Chr15:45056077..45772378 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_001363711.2(DUOX2):c.4521del (p.Gln1508fs) deletion not provided [RCV001268600] Chr15:45094566 [GRCh38]
Chr15:45386764 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.1264C>T (p.Arg422Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002283596]|not provided [RCV003096371] Chr15:45108923 [GRCh38]
Chr15:45401121 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4246T>A (p.Phe1416Ile) single nucleotide variant not provided [RCV002284823] Chr15:45095085 [GRCh38]
Chr15:45387283 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4081-1G>A single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001265561]|not provided [RCV003558777] Chr15:45095596 [GRCh38]
Chr15:45387794 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.2887C>T (p.Arg963Ter) single nucleotide variant not provided [RCV002922896] Chr15:45101239 [GRCh38]
Chr15:45393437 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2820C>G (p.Leu940=) single nucleotide variant not provided [RCV001342004] Chr15:45101824 [GRCh38]
Chr15:45394022 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NC_000015.9:g.(?_44855319)_(45898712_?)dup duplication Arginine:glycine amidinotransferase deficiency [RCV001304383] Chr15:44855319..45898712 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2655-284AC[3] microsatellite not provided [RCV001539361] Chr15:45102269..45102270 [GRCh38]
Chr15:45394467..45394468 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1831+5G>C single nucleotide variant not provided [RCV001361229] Chr15:45106827 [GRCh38]
Chr15:45399025 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002497880]|not provided [RCV001972356] Chr15:45106600 [GRCh38]
Chr15:45398798 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.4478C>T (p.Pro1493Leu) single nucleotide variant not provided [RCV001787531] Chr15:45094609 [GRCh38]
Chr15:45386807 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2852G>A (p.Gly951Asp) single nucleotide variant not provided [RCV001373605] Chr15:45101274 [GRCh38]
Chr15:45393472 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.355G>T (p.Val119Leu) single nucleotide variant not provided [RCV001322966] Chr15:45111926 [GRCh38]
Chr15:45404124 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4597G>C (p.Val1533Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003145596]|not provided [RCV001345883] Chr15:45094200 [GRCh38]
Chr15:45386398 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.385C>T (p.Leu129Phe) single nucleotide variant not provided [RCV001314918] Chr15:45111896 [GRCh38]
Chr15:45404094 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1237T>A (p.Tyr413Asn) single nucleotide variant not provided [RCV001296316] Chr15:45108950 [GRCh38]
Chr15:45401148 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3983C>T (p.Thr1328Ile) single nucleotide variant not provided [RCV001321120] Chr15:45095925 [GRCh38]
Chr15:45388123 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.160+5G>A single nucleotide variant not provided [RCV001344514] Chr15:45112982 [GRCh38]
Chr15:45405180 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2297G>A (p.Arg766His) single nucleotide variant DUOX2-related condition [RCV003416200]|not provided [RCV001318414] Chr15:45105680 [GRCh38]
Chr15:45397878 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3637C>T (p.Arg1213Cys) single nucleotide variant Inborn genetic diseases [RCV002548579]|not provided [RCV001366349] Chr15:45097670 [GRCh38]
Chr15:45389868 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3347G>A (p.Arg1116His) single nucleotide variant not provided [RCV001309631] Chr15:45099730 [GRCh38]
Chr15:45391928 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3631C>T (p.Arg1211Cys) single nucleotide variant not provided [RCV001367014] Chr15:45097676 [GRCh38]
Chr15:45389874 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3416-1G>A single nucleotide variant Congenital hypothyroidism [RCV001449802] Chr15:45099483 [GRCh38]
Chr15:45391681 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.1234+1G>T single nucleotide variant not provided [RCV001377441] Chr15:45109523 [GRCh38]
Chr15:45401721 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2688C>G (p.Ser896=) single nucleotide variant not provided [RCV001506160] Chr15:45101956 [GRCh38]
Chr15:45394154 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2703C>G (p.Ala901=) single nucleotide variant not provided [RCV001475354] Chr15:45101941 [GRCh38]
Chr15:45394139 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3693+1G>T single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003485711]|not provided [RCV001376797] Chr15:45097613 [GRCh38]
Chr15:45389811 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.618del (p.Asp208fs) deletion Thyroid dyshormonogenesis 6 [RCV001781006] Chr15:45111481 [GRCh38]
Chr15:45403679 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3006-2A>G single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001781007]|not provided [RCV002034588] Chr15:45100230 [GRCh38]
Chr15:45392428 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.1399-12G>A single nucleotide variant not provided [RCV001504406] Chr15:45108234 [GRCh38]
Chr15:45400432 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.790del (p.Leu264fs) deletion Thyroid dyshormonogenesis 6 [RCV002250981] Chr15:45111203 [GRCh38]
Chr15:45403401 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3258G>C (p.Thr1086=) single nucleotide variant not provided [RCV001426280] Chr15:45099819 [GRCh38]
Chr15:45392017 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3369A>G (p.Ala1123=) single nucleotide variant not provided [RCV001432661] Chr15:45099708 [GRCh38]
Chr15:45391906 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001780331]|not provided [RCV001384045] Chr15:45106172 [GRCh38]
Chr15:45398370 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.911G>A (p.Ser304Asn) single nucleotide variant not provided [RCV001448501] Chr15:45110682 [GRCh38]
Chr15:45402880 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1945+97A>G single nucleotide variant not provided [RCV001643294] Chr15:45106431 [GRCh38]
Chr15:45398629 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.4080+18C>A single nucleotide variant not provided [RCV001416914] Chr15:45095810 [GRCh38]
Chr15:45388008 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.325+15G>A single nucleotide variant not provided [RCV001523768] Chr15:45112539 [GRCh38]
Chr15:45404737 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3515+287G>A single nucleotide variant not provided [RCV001616836] Chr15:45099096 [GRCh38]
Chr15:45391294 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1987A>G (p.Ile663Val) single nucleotide variant not provided [RCV001457790] Chr15:45106286 [GRCh38]
Chr15:45398484 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2290C>T (p.Arg764Trp) single nucleotide variant not provided [RCV001486188] Chr15:45105687 [GRCh38]
Chr15:45397885 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2779A>G (p.Met927Val) single nucleotide variant not provided [RCV001465379] Chr15:45101865 [GRCh38]
Chr15:45394063 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.883-57C>A single nucleotide variant not provided [RCV001649028] Chr15:45110767 [GRCh38]
Chr15:45402965 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.161-63A>C single nucleotide variant not provided [RCV001682314] Chr15:45112781 [GRCh38]
Chr15:45404979 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+185_1574+196del deletion not provided [RCV001590852] Chr15:45107851..45107862 [GRCh38]
Chr15:45400049..45400060 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1234+156dup duplication not provided [RCV001582333] Chr15:45109353..45109354 [GRCh38]
Chr15:45401551..45401552 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.70+126G>A single nucleotide variant not provided [RCV001644076] Chr15:45113216 [GRCh38]
Chr15:45405414 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+175dup duplication not provided [RCV001649964] Chr15:45107850..45107851 [GRCh38]
Chr15:45400048..45400049 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1574+123C>T single nucleotide variant not provided [RCV001716442] Chr15:45107924 [GRCh38]
Chr15:45400122 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) single nucleotide variant DUOX2-related condition [RCV003966228]|not provided [RCV001583008] Chr15:45094245 [GRCh38]
Chr15:45386443 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.1831+65C>A single nucleotide variant not provided [RCV001652723] Chr15:45106767 [GRCh38]
Chr15:45398965 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.883-32T>C single nucleotide variant not provided [RCV001666267] Chr15:45110742 [GRCh38]
Chr15:45402940 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.943+18G>C single nucleotide variant not provided [RCV001512595] Chr15:45110632 [GRCh38]
Chr15:45402830 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys) single nucleotide variant not provided [RCV001442256] Chr15:45095862 [GRCh38]
Chr15:45388060 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_001363711.2(DUOX2):c.3848-16T>C single nucleotide variant not provided [RCV001513428] Chr15:45096076 [GRCh38]
Chr15:45388274 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001732190]|not provided [RCV001505058]|not specified [RCV003490261] Chr15:45106954 [GRCh38]
Chr15:45399152 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.3267C>T (p.Ser1089=) single nucleotide variant not provided [RCV001432554] Chr15:45099810 [GRCh38]
Chr15:45392008 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1574+2T>C single nucleotide variant not provided [RCV001379161] Chr15:45108045 [GRCh38]
Chr15:45400243 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003143581]|not provided [RCV003109080] Chr15:45111775 [GRCh38]
Chr15:45403973 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.2793T>C (p.His931=) single nucleotide variant not provided [RCV001726952] Chr15:45101851 [GRCh38]
Chr15:45394049 [GRCh37]
Chr15:15q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.2796C>T (p.Asp932=) single nucleotide variant not provided [RCV001726950] Chr15:45101848 [GRCh38]
Chr15:45394046 [GRCh37]
Chr15:15q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.2794G>A (p.Asp932Asn) single nucleotide variant not provided [RCV001726951] Chr15:45101850 [GRCh38]
Chr15:45394048 [GRCh37]
Chr15:15q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.260C>G (p.Ala87Gly) single nucleotide variant not provided [RCV001758095] Chr15:45112619 [GRCh38]
Chr15:45404817 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2921+2T>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001783164] Chr15:45101203 [GRCh38]
Chr15:45393401 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs) deletion Thyroid dyshormonogenesis 6 [RCV002251194] Chr15:45099810..45099813 [GRCh38]
Chr15:45392008..45392011 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs) microsatellite See cases [RCV002252934]|not provided [RCV003774741] Chr15:45099474..45099475 [GRCh38]
Chr15:45391672..45391673 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.4081-3C>A single nucleotide variant not provided [RCV001754823] Chr15:45095598 [GRCh38]
Chr15:45387796 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1552T>A (p.Trp518Arg) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002250861] Chr15:45108069 [GRCh38]
Chr15:45400267 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2000del (p.Leu667fs) deletion Thyroid dyshormonogenesis 6 [RCV001783165]|not provided [RCV001868844] Chr15:45106273 [GRCh38]
Chr15:45398471 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4478_4479delinsTG (p.Pro1493Leu) indel not provided [RCV001752094] Chr15:45094608..45094609 [GRCh38]
Chr15:45386806..45386807 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3355C>T (p.Pro1119Ser) single nucleotide variant not provided [RCV001771199] Chr15:45099722 [GRCh38]
Chr15:45391920 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.144C>A (p.His48Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001733652]|not provided [RCV001861042] Chr15:45113003 [GRCh38]
Chr15:45405201 [GRCh37]
Chr15:15q21.1		 uncertain significance|no classifications from unflagged records
NM_001363711.2(DUOX2):c.3901C>A (p.Gln1301Lys) single nucleotide variant not provided [RCV001754647] Chr15:45096007 [GRCh38]
Chr15:45388205 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3854C>G (p.Thr1285Ser) single nucleotide variant not provided [RCV001752638] Chr15:45096054 [GRCh38]
Chr15:45388252 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.104T>C (p.Val35Ala) single nucleotide variant not provided [RCV001769496] Chr15:45113043 [GRCh38]
Chr15:45405241 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.714C>A (p.Tyr238Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001781010] Chr15:45111385 [GRCh38]
Chr15:45403583 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3596T>C (p.Leu1199Pro) single nucleotide variant Idiopathic basal ganglia calcification 1 [RCV001784095] Chr15:45097711 [GRCh38]
Chr15:45389909 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001781011]|not provided [RCV002034589] Chr15:45103979 [GRCh38]
Chr15:45396177 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002488512]|not provided [RCV001756680] Chr15:45097675 [GRCh38]
Chr15:45389873 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.587_619del (p.Arg196_Gly206del) deletion not specified [RCV001817835] Chr15:45111480..45111512 [GRCh38]
Chr15:45403678..45403710 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1445T>G (p.Leu482Arg) single nucleotide variant not provided [RCV002008482] Chr15:45108176 [GRCh38]
Chr15:45400374 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.988G>T (p.Val330Leu) single nucleotide variant not provided [RCV002025546] Chr15:45110480 [GRCh38]
Chr15:45402678 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1308G>A (p.Met436Ile) single nucleotide variant not provided [RCV001909915] Chr15:45108879 [GRCh38]
Chr15:45401077 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4604G>A (p.Arg1535Lys) single nucleotide variant not provided [RCV001874039] Chr15:45094193 [GRCh38]
Chr15:45386391 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3259G>A (p.Ala1087Thr) single nucleotide variant not provided [RCV002008911] Chr15:45099818 [GRCh38]
Chr15:45392016 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.990G>A (p.Val330=) single nucleotide variant not provided [RCV001911697] Chr15:45110478 [GRCh38]
Chr15:45402676 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2950G>A (p.Ala984Thr) single nucleotide variant not provided [RCV001950407] Chr15:45100810 [GRCh38]
Chr15:45393008 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.395G>T (p.Arg132Leu) single nucleotide variant not provided [RCV002009093] Chr15:45111886 [GRCh38]
Chr15:45404084 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2356G>A (p.Asp786Asn) single nucleotide variant not provided [RCV002040599] Chr15:45104344 [GRCh38]
Chr15:45396542 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3646C>T (p.Arg1216Trp) single nucleotide variant not provided [RCV001874667] Chr15:45097661 [GRCh38]
Chr15:45389859 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3967G>A (p.Ala1323Thr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002492171]|not provided [RCV001968883] Chr15:45095941 [GRCh38]
Chr15:45388139 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2138A>G (p.Glu713Gly) single nucleotide variant not provided [RCV001863543] Chr15:45106135 [GRCh38]
Chr15:45398333 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1315C>G (p.Pro439Ala) single nucleotide variant not provided [RCV001896266] Chr15:45108872 [GRCh38]
Chr15:45401070 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3162C>T (p.Gly1054=) single nucleotide variant not provided [RCV002025465] Chr15:45100072 [GRCh38]
Chr15:45392270 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2631G>A (p.Lys877=) single nucleotide variant not provided [RCV001863511] Chr15:45103983 [GRCh38]
Chr15:45396181 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.4396-5C>A single nucleotide variant not provided [RCV001863586] Chr15:45094696 [GRCh38]
Chr15:45386894 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.1546C>T (p.Arg516Cys) single nucleotide variant not provided [RCV001964700] Chr15:45108075 [GRCh38]
Chr15:45400273 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1832T>C (p.Val611Ala) single nucleotide variant not provided [RCV001949150] Chr15:45106641 [GRCh38]
Chr15:45398839 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4045T>G (p.Ser1349Ala) single nucleotide variant not provided [RCV001914935] Chr15:45095863 [GRCh38]
Chr15:45388061 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2573A>T (p.Asp858Val) single nucleotide variant not provided [RCV001949724] Chr15:45104041 [GRCh38]
Chr15:45396239 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3536T>A (p.Phe1179Tyr) single nucleotide variant not provided [RCV002007022] Chr15:45098038 [GRCh38]
Chr15:45390236 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1196C>T (p.Ser399Leu) single nucleotide variant DUOX2-related condition [RCV003958473]|Inborn genetic diseases [RCV002548910]|not provided [RCV002043523] Chr15:45109562 [GRCh38]
Chr15:45401760 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.3830C>T (p.Ala1277Val) single nucleotide variant not provided [RCV001988049] Chr15:45097255 [GRCh38]
Chr15:45389453 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2335-1G>C single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003323962]|not provided [RCV001949376] Chr15:45104366 [GRCh38]
Chr15:45396564 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002490196]|not provided [RCV001911417] Chr15:45101205 [GRCh38]
Chr15:45393403 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.152dup (p.Ala52fs) duplication not provided [RCV001891165] Chr15:45112994..45112995 [GRCh38]
Chr15:45405192..45405193 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2561G>C (p.Gly854Ala) single nucleotide variant not provided [RCV001891015] Chr15:45104053 [GRCh38]
Chr15:45396251 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_45152372)_(45457099_?)dup duplication not provided [RCV001967757] Chr15:45152372..45457099 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1867C>T (p.Arg623Trp) single nucleotide variant Inborn genetic diseases [RCV002553592]|not provided [RCV001891259] Chr15:45106606 [GRCh38]
Chr15:45398804 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3638G>A (p.Arg1213His) single nucleotide variant not provided [RCV002040450] Chr15:45097669 [GRCh38]
Chr15:45389867 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3052A>G (p.Lys1018Glu) single nucleotide variant not provided [RCV001969119] Chr15:45100182 [GRCh38]
Chr15:45392380 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3469C>T (p.Leu1157Phe) single nucleotide variant not provided [RCV002023014] Chr15:45099429 [GRCh38]
Chr15:45391627 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1627G>A (p.Val543Met) single nucleotide variant not provided [RCV002002040] Chr15:45107411 [GRCh38]
Chr15:45399609 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.436G>C (p.Gly146Arg) single nucleotide variant not provided [RCV001945715] Chr15:45111845 [GRCh38]
Chr15:45404043 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3005A>G (p.Lys1002Arg) single nucleotide variant not provided [RCV001911830] Chr15:45100755 [GRCh38]
Chr15:45392953 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4481C>A (p.Pro1494His) single nucleotide variant Inborn genetic diseases [RCV002554124]|not provided [RCV001908368] Chr15:45094606 [GRCh38]
Chr15:45386804 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q21.1(chr15:45056077-45772114) copy number gain not specified [RCV002052469] Chr15:45056077..45772114 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633) copy number loss not specified [RCV002052466] Chr15:42850434..49592633 [GRCh37]
Chr15:15q15.2-21.2		 pathogenic
NM_001363711.2(DUOX2):c.2104_2106del (p.Gly702del) deletion not provided [RCV002003257] Chr15:45106167..45106169 [GRCh38]
Chr15:45398365..45398367 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4546A>G (p.Ser1516Gly) single nucleotide variant not provided [RCV002039939] Chr15:45094251 [GRCh38]
Chr15:45386449 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3842C>G (p.Pro1281Arg) single nucleotide variant not provided [RCV002006443] Chr15:45097243 [GRCh38]
Chr15:45389441 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003447603]|not provided [RCV002074386]|not specified [RCV001825123] Chr15:45109961 [GRCh38]
Chr15:45402159 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.3157G>T (p.Val1053Phe) single nucleotide variant not provided [RCV002007801] Chr15:45100077 [GRCh38]
Chr15:45392275 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1168CTG[2] (p.Leu392del) microsatellite not provided [RCV001983292] Chr15:45109582..45109584 [GRCh38]
Chr15:45401780..45401782 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4525-8_4525-6del deletion not provided [RCV002024379] Chr15:45094278..45094280 [GRCh38]
Chr15:45386476..45386478 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1365C>G (p.Asn455Lys) single nucleotide variant not provided [RCV002007875] Chr15:45108822 [GRCh38]
Chr15:45401020 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2047C>T (p.Arg683Cys) single nucleotide variant not provided [RCV001985238] Chr15:45106226 [GRCh38]
Chr15:45398424 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1325G>A (p.Ser442Asn) single nucleotide variant not provided [RCV002040416] Chr15:45108862 [GRCh38]
Chr15:45401060 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2183C>A (p.Ala728Asp) single nucleotide variant not provided [RCV001895305] Chr15:45105794 [GRCh38]
Chr15:45397992 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4558C>G (p.Pro1520Ala) single nucleotide variant not provided [RCV001948015] Chr15:45094239 [GRCh38]
Chr15:45386437 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.346G>C (p.Val116Leu) single nucleotide variant not provided [RCV001964290] Chr15:45111935 [GRCh38]
Chr15:45404133 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4261C>T (p.Arg1421Trp) single nucleotide variant not provided [RCV001891769] Chr15:45095070 [GRCh38]
Chr15:45387268 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4454G>A (p.Arg1485His) single nucleotide variant not provided [RCV002041879] Chr15:45094633 [GRCh38]
Chr15:45386831 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1393C>G (p.Pro465Ala) single nucleotide variant not provided [RCV002040853] Chr15:45108794 [GRCh38]
Chr15:45400992 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1868G>C (p.Arg623Pro) single nucleotide variant not provided [RCV001967373] Chr15:45106605 [GRCh38]
Chr15:45398803 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4612C>T (p.Arg1538Ter) single nucleotide variant not provided [RCV001987450] Chr15:45094185 [GRCh38]
Chr15:45386383 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV001823644]|not provided [RCV003574891] Chr15:45100201 [GRCh38]
Chr15:45392399 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.76C>G (p.Gln26Glu) single nucleotide variant not provided [RCV001871537] Chr15:45113071 [GRCh38]
Chr15:45405269 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2983C>A (p.Leu995Met) single nucleotide variant not provided [RCV001947660] Chr15:45100777 [GRCh38]
Chr15:45392975 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3383G>T (p.Arg1128Leu) single nucleotide variant not provided [RCV001984149] Chr15:45099694 [GRCh38]
Chr15:45391892 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.427G>T (p.Asp143Tyr) single nucleotide variant not provided [RCV001872444] Chr15:45111854 [GRCh38]
Chr15:45404052 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1435C>G (p.Leu479Val) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003146431]|not provided [RCV002005421] Chr15:45108186 [GRCh38]
Chr15:45400384 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3516-3C>A single nucleotide variant not provided [RCV001893500] Chr15:45098061 [GRCh38]
Chr15:45390259 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3604A>G (p.Met1202Val) single nucleotide variant not provided [RCV001964372] Chr15:45097703 [GRCh38]
Chr15:45389901 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3081G>T (p.Lys1027Asn) single nucleotide variant not provided [RCV001966052] Chr15:45100153 [GRCh38]
Chr15:45392351 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.100G>A (p.Glu34Lys) single nucleotide variant not provided [RCV001910823] Chr15:45113047 [GRCh38]
Chr15:45405245 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.391A>G (p.Ile131Val) single nucleotide variant not provided [RCV002004204] Chr15:45111890 [GRCh38]
Chr15:45404088 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2396G>A (p.Arg799Gln) single nucleotide variant not provided [RCV001984773] Chr15:45104304 [GRCh38]
Chr15:45396502 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3910C>A (p.Arg1304=) single nucleotide variant not provided [RCV002038038] Chr15:45095998 [GRCh38]
Chr15:45388196 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2031G>C (p.Arg677Ser) single nucleotide variant not provided [RCV001962838] Chr15:45106242 [GRCh38]
Chr15:45398440 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4075C>T (p.Pro1359Ser) single nucleotide variant not provided [RCV001943929] Chr15:45095833 [GRCh38]
Chr15:45388031 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4396T>G (p.Tyr1466Asp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002492176]|not provided [RCV001995098] Chr15:45094691 [GRCh38]
Chr15:45386889 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1793T>C (p.Phe598Ser) single nucleotide variant not provided [RCV001995114] Chr15:45106870 [GRCh38]
Chr15:45399068 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.461G>A (p.Arg154Lys) single nucleotide variant not provided [RCV001996883] Chr15:45111820 [GRCh38]
Chr15:45404018 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4516C>T (p.His1506Tyr) single nucleotide variant not provided [RCV001999352] Chr15:45094571 [GRCh38]
Chr15:45386769 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1529G>A (p.Arg510Gln) single nucleotide variant not provided [RCV001992350] Chr15:45108092 [GRCh38]
Chr15:45400290 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2950G>C (p.Ala984Pro) single nucleotide variant not provided [RCV001944414] Chr15:45100810 [GRCh38]
Chr15:45393008 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1622G>A (p.Arg541Gln) single nucleotide variant Inborn genetic diseases [RCV002552314]|not provided [RCV001886308] Chr15:45107416 [GRCh38]
Chr15:45399614 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4529G>A (p.Arg1510His) single nucleotide variant not provided [RCV001942230] Chr15:45094268 [GRCh38]
Chr15:45386466 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3819C>A (p.Ser1273Arg) single nucleotide variant not provided [RCV001876305] Chr15:45097266 [GRCh38]
Chr15:45389464 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2944C>A (p.Pro982Thr) single nucleotide variant not provided [RCV001870594] Chr15:45100816 [GRCh38]
Chr15:45393014 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2935G>A (p.Gly979Arg) single nucleotide variant not provided [RCV001885628] Chr15:45100825 [GRCh38]
Chr15:45393023 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.307G>C (p.Val103Leu) single nucleotide variant not provided [RCV002000393] Chr15:45112572 [GRCh38]
Chr15:45404770 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1534C>T (p.Arg512Trp) single nucleotide variant not provided [RCV001944617] Chr15:45108087 [GRCh38]
Chr15:45400285 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.982T>G (p.Phe328Val) single nucleotide variant not provided [RCV001941016] Chr15:45110486 [GRCh38]
Chr15:45402684 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4153G>A (p.Gly1385Arg) single nucleotide variant not provided [RCV002000870] Chr15:45095523 [GRCh38]
Chr15:45387721 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1265G>A (p.Arg422His) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002507616]|not provided [RCV001941078] Chr15:45108922 [GRCh38]
Chr15:45401120 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2899A>C (p.Ile967Leu) single nucleotide variant not provided [RCV001995680] Chr15:45101227 [GRCh38]
Chr15:45393425 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3255C>T (p.Gly1085=) single nucleotide variant not provided [RCV002037112] Chr15:45099822 [GRCh38]
Chr15:45392020 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.964C>T (p.Pro322Ser) single nucleotide variant not provided [RCV002014806] Chr15:45110504 [GRCh38]
Chr15:45402702 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4001G>A (p.Arg1334Gln) single nucleotide variant not provided [RCV002037205] Chr15:45095907 [GRCh38]
Chr15:45388105 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1508T>C (p.Ile503Thr) single nucleotide variant not provided [RCV001907425] Chr15:45108113 [GRCh38]
Chr15:45400311 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_45386348)_(45399681_?)dup duplication not provided [RCV001886880] Chr15:45386348..45399681 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3175C>T (p.Arg1059Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003146494]|not provided [RCV002038651] Chr15:45100059 [GRCh38]
Chr15:45392257 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3394A>G (p.Met1132Val) single nucleotide variant not provided [RCV001886659] Chr15:45099683 [GRCh38]
Chr15:45391881 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1496T>C (p.Leu499Pro) single nucleotide variant not provided [RCV001866510] Chr15:45108125 [GRCh38]
Chr15:45400323 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4483T>C (p.Phe1495Leu) single nucleotide variant not provided [RCV001886779] Chr15:45094604 [GRCh38]
Chr15:45386802 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3751del (p.Leu1251fs) deletion not provided [RCV001999909] Chr15:45097334 [GRCh38]
Chr15:45389532 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.4597G>T (p.Val1533Phe) single nucleotide variant not provided [RCV001888757] Chr15:45094200 [GRCh38]
Chr15:45386398 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2145C>G (p.Asp715Glu) single nucleotide variant not provided [RCV001938134] Chr15:45106128 [GRCh38]
Chr15:45398326 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1461_1462delinsCA (p.Gly488Arg) indel not provided [RCV001933186] Chr15:45108159..45108160 [GRCh38]
Chr15:45400357..45400358 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4119G>T (p.Glu1373Asp) single nucleotide variant not provided [RCV002015251] Chr15:45095557 [GRCh38]
Chr15:45387755 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3486C>A (p.Cys1162Ter) single nucleotide variant not provided [RCV001994701] Chr15:45099412 [GRCh38]
Chr15:45391610 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1743G>T (p.Gln581His) single nucleotide variant not provided [RCV001906183] Chr15:45106920 [GRCh38]
Chr15:45399118 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1565C>T (p.Thr522Ile) single nucleotide variant not provided [RCV001999556] Chr15:45108056 [GRCh38]
Chr15:45400254 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1783A>G (p.Ser595Gly) single nucleotide variant not provided [RCV001979866] Chr15:45106880 [GRCh38]
Chr15:45399078 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1516G>A (p.Asp506Asn) single nucleotide variant not provided [RCV001897379] Chr15:45108105 [GRCh38]
Chr15:45400303 [GRCh37]
Chr15:15q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.3935C>T (p.Thr1312Ile) single nucleotide variant not provided [RCV002026445] Chr15:45095973 [GRCh38]
Chr15:45388171 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3517T>C (p.Ser1173Pro) single nucleotide variant not provided [RCV001979517] Chr15:45098057 [GRCh38]
Chr15:45390255 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4273C>G (p.Gln1425Glu) single nucleotide variant not provided [RCV001962264] Chr15:45095058 [GRCh38]
Chr15:45387256 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3415+1G>A single nucleotide variant not provided [RCV001961712] Chr15:45099661 [GRCh38]
Chr15:45391859 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.928C>T (p.Leu310Phe) single nucleotide variant not provided [RCV002038791] Chr15:45110665 [GRCh38]
Chr15:45402863 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2581C>A (p.Arg861Ser) single nucleotide variant not provided [RCV002011430] Chr15:45104033 [GRCh38]
Chr15:45396231 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.175C>T (p.Arg59Cys) single nucleotide variant not provided [RCV001888419] Chr15:45112704 [GRCh38]
Chr15:45404902 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.202G>C (p.Gly68Arg) single nucleotide variant not provided [RCV002036387] Chr15:45112677 [GRCh38]
Chr15:45404875 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4524+1dup duplication not provided [RCV001941892] Chr15:45094561..45094562 [GRCh38]
Chr15:45386759..45386760 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4556C>G (p.Pro1519Arg) single nucleotide variant not provided [RCV002050644] Chr15:45094241 [GRCh38]
Chr15:45386439 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3449A>C (p.Tyr1150Ser) single nucleotide variant not provided [RCV002011525] Chr15:45099449 [GRCh38]
Chr15:45391647 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2311TTC[1] (p.Phe772del) microsatellite not provided [RCV001954386] Chr15:45105661..45105663 [GRCh38]
Chr15:45397859..45397861 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1772T>C (p.Phe591Ser) single nucleotide variant not provided [RCV001954178] Chr15:45106891 [GRCh38]
Chr15:45399089 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2090T>C (p.Leu697Pro) single nucleotide variant not provided [RCV001878695] Chr15:45106183 [GRCh38]
Chr15:45398381 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4157G>C (p.Gly1386Ala) single nucleotide variant not provided [RCV001976738] Chr15:45095519 [GRCh38]
Chr15:45387717 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1596T>G (p.Ile532Met) single nucleotide variant not provided [RCV001902024] Chr15:45107442 [GRCh38]
Chr15:45399640 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.442G>T (p.Val148Leu) single nucleotide variant not provided [RCV002050985] Chr15:45111839 [GRCh38]
Chr15:45404037 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2767G>A (p.Asp923Asn) single nucleotide variant not provided [RCV002030827] Chr15:45101877 [GRCh38]
Chr15:45394075 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.421G>C (p.Asp141His) single nucleotide variant not provided [RCV002030994] Chr15:45111860 [GRCh38]
Chr15:45404058 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2800G>A (p.Glu934Lys) single nucleotide variant not provided [RCV001918047] Chr15:45101844 [GRCh38]
Chr15:45394042 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2888G>A (p.Arg963Gln) single nucleotide variant not provided [RCV001978041] Chr15:45101238 [GRCh38]
Chr15:45393436 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2486C>G (p.Ser829Cys) single nucleotide variant not provided [RCV001995104] Chr15:45104214 [GRCh38]
Chr15:45396412 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3601A>G (p.Ile1201Val) single nucleotide variant not provided [RCV002049630] Chr15:45097706 [GRCh38]
Chr15:45389904 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002486740]|not provided [RCV002027225] Chr15:45111776 [GRCh38]
Chr15:45403974 [GRCh37]
Chr15:15q21.1		 pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.430C>T (p.Gln144Ter) single nucleotide variant not provided [RCV001952095] Chr15:45111851 [GRCh38]
Chr15:45404049 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4467C>G (p.His1489Gln) single nucleotide variant not provided [RCV002027281] Chr15:45094620 [GRCh38]
Chr15:45386818 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1234G>A (p.Asp412Asn) single nucleotide variant not provided [RCV001879122] Chr15:45109524 [GRCh38]
Chr15:45401722 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4589G>A (p.Cys1530Tyr) single nucleotide variant not provided [RCV002026039] Chr15:45094208 [GRCh38]
Chr15:45386406 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4240-3C>A single nucleotide variant not provided [RCV001977527] Chr15:45095094 [GRCh38]
Chr15:45387292 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4239+3G>A single nucleotide variant not provided [RCV001916996] Chr15:45095434 [GRCh38]
Chr15:45387632 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1636G>A (p.Ala546Thr) single nucleotide variant not provided [RCV001876668] Chr15:45107402 [GRCh38]
Chr15:45399600 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1060C>G (p.Arg354Gly) single nucleotide variant not provided [RCV001897115] Chr15:45109961 [GRCh38]
Chr15:45402159 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3397G>C (p.Ala1133Pro) single nucleotide variant Inborn genetic diseases [RCV003264205]|not provided [RCV001919777] Chr15:45099680 [GRCh38]
Chr15:45391878 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1315C>T (p.Pro439Ser) single nucleotide variant not provided [RCV002031185] Chr15:45108872 [GRCh38]
Chr15:45401070 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1553G>T (p.Trp518Leu) single nucleotide variant not provided [RCV001902732] Chr15:45108068 [GRCh38]
Chr15:45400266 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3410T>C (p.Leu1137Pro) single nucleotide variant not provided [RCV002032311] Chr15:45099667 [GRCh38]
Chr15:45391865 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1777G>A (p.Gly593Ser) single nucleotide variant not provided [RCV001917120] Chr15:45106886 [GRCh38]
Chr15:45399084 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1985T>C (p.Ile662Thr) single nucleotide variant not provided [RCV001973363] Chr15:45106288 [GRCh38]
Chr15:45398486 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.332A>T (p.His111Leu) single nucleotide variant not provided [RCV001866637] Chr15:45111949 [GRCh38]
Chr15:45404147 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2111G>A (p.Arg704His) single nucleotide variant not provided [RCV001901026] Chr15:45106162 [GRCh38]
Chr15:45398360 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.949C>T (p.Arg317Cys) single nucleotide variant not provided [RCV001915836] Chr15:45110519 [GRCh38]
Chr15:45402717 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4133A>C (p.Glu1378Ala) single nucleotide variant not provided [RCV002048884] Chr15:45095543 [GRCh38]
Chr15:45387741 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1301G>A (p.Arg434Gln) single nucleotide variant not provided [RCV001922140] Chr15:45108886 [GRCh38]
Chr15:45401084 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2850T>C (p.Asn950=) single nucleotide variant not provided [RCV001957373] Chr15:45101794 [GRCh38]
Chr15:45393992 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.963C>A (p.Asp321Glu) single nucleotide variant not provided [RCV002011213] Chr15:45110505 [GRCh38]
Chr15:45402703 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) single nucleotide variant DUOX2-related condition [RCV003434340]|not provided [RCV001877149] Chr15:45108892 [GRCh38]
Chr15:45401090 [GRCh37]
Chr15:15q21.1		 likely pathogenic|uncertain significance
NM_001363711.2(DUOX2):c.3694-3C>T single nucleotide variant not provided [RCV001900143] Chr15:45097394 [GRCh38]
Chr15:45389592 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.386T>C (p.Leu129Pro) single nucleotide variant not provided [RCV002030431] Chr15:45111895 [GRCh38]
Chr15:45404093 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3800G>A (p.Arg1267Gln) single nucleotide variant not provided [RCV002046539] Chr15:45097285 [GRCh38]
Chr15:45389483 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3948C>A (p.His1316Gln) single nucleotide variant not provided [RCV002046560] Chr15:45095960 [GRCh38]
Chr15:45388158 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3584T>C (p.Leu1195Pro) single nucleotide variant not provided [RCV001952801] Chr15:45097723 [GRCh38]
Chr15:45389921 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1216G>A (p.Val406Met) single nucleotide variant not provided [RCV002014920] Chr15:45109542 [GRCh38]
Chr15:45401740 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3382C>T (p.Arg1128Cys) single nucleotide variant not provided [RCV001932191] Chr15:45099695 [GRCh38]
Chr15:45391893 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1486C>T (p.Pro496Ser) single nucleotide variant not provided [RCV002030581] Chr15:45108135 [GRCh38]
Chr15:45400333 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4481C>G (p.Pro1494Arg) single nucleotide variant Inborn genetic diseases [RCV002562881]|not provided [RCV001981671] Chr15:45094606 [GRCh38]
Chr15:45386804 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1963C>T (p.Pro655Ser) single nucleotide variant not provided [RCV001899090] Chr15:45106310 [GRCh38]
Chr15:45398508 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4348T>C (p.Tyr1450His) single nucleotide variant not provided [RCV002028117] Chr15:45094983 [GRCh38]
Chr15:45387181 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2655-3C>T single nucleotide variant not provided [RCV001992253] Chr15:45101992 [GRCh38]
Chr15:45394190 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1153C>T (p.Gln385Ter) single nucleotide variant not provided [RCV001899140] Chr15:45109605 [GRCh38]
Chr15:45401803 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3752T>C (p.Leu1251Pro) single nucleotide variant not provided [RCV001953022] Chr15:45097333 [GRCh38]
Chr15:45389531 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2230C>T (p.Leu744Phe) single nucleotide variant not provided [RCV001905167] Chr15:45105747 [GRCh38]
Chr15:45397945 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2116C>A (p.Leu706Met) single nucleotide variant not provided [RCV002013030] Chr15:45106157 [GRCh38]
Chr15:45398355 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1613C>T (p.Thr538Ile) single nucleotide variant not provided [RCV001980056] Chr15:45107425 [GRCh38]
Chr15:45399623 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3923T>C (p.Leu1308Pro) single nucleotide variant not provided [RCV001961596] Chr15:45095985 [GRCh38]
Chr15:45388183 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3688G>T (p.Ala1230Ser) single nucleotide variant not provided [RCV001975500] Chr15:45097619 [GRCh38]
Chr15:45389817 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1607G>A (p.Arg536Gln) single nucleotide variant not provided [RCV001955803] Chr15:45107431 [GRCh38]
Chr15:45399629 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1868G>A (p.Arg623Gln) single nucleotide variant not provided [RCV001935200] Chr15:45106605 [GRCh38]
Chr15:45398803 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.161-7T>G single nucleotide variant not provided [RCV002010627] Chr15:45112725 [GRCh38]
Chr15:45404923 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1448A>G (p.Glu483Gly) single nucleotide variant not provided [RCV001919380] Chr15:45108173 [GRCh38]
Chr15:45400371 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.974C>T (p.Ser325Phe) single nucleotide variant not provided [RCV001936249] Chr15:45110494 [GRCh38]
Chr15:45402692 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2920C>T (p.Arg974Cys) single nucleotide variant not provided [RCV002017790] Chr15:45101206 [GRCh38]
Chr15:45393404 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1075A>G (p.Lys359Glu) single nucleotide variant not provided [RCV002047197] Chr15:45109946 [GRCh38]
Chr15:45402144 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2359G>A (p.Ala787Thr) single nucleotide variant not provided [RCV001876604] Chr15:45104341 [GRCh38]
Chr15:45396539 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.197C>T (p.Ala66Val) single nucleotide variant not provided [RCV001904074] Chr15:45112682 [GRCh38]
Chr15:45404880 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.355G>C (p.Val119Leu) single nucleotide variant not provided [RCV001939871]|not specified [RCV003317545] Chr15:45111926 [GRCh38]
Chr15:45404124 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2250C>A (p.Ser750Arg) single nucleotide variant not provided [RCV001919673] Chr15:45105727 [GRCh38]
Chr15:45397925 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2934G>A (p.Gln978=) single nucleotide variant not provided [RCV001905392] Chr15:45100826 [GRCh38]
Chr15:45393024 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2752G>T (p.Glu918Ter) single nucleotide variant not provided [RCV001867806] Chr15:45101892 [GRCh38]
Chr15:45394090 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3307C>T (p.Arg1103Cys) single nucleotide variant not provided [RCV001923593] Chr15:45099770 [GRCh38]
Chr15:45391968 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4061G>A (p.Gly1354Asp) single nucleotide variant not provided [RCV001959997] Chr15:45095847 [GRCh38]
Chr15:45388045 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4420A>G (p.Lys1474Glu) single nucleotide variant not provided [RCV001924800] Chr15:45094667 [GRCh38]
Chr15:45386865 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3061C>A (p.Arg1021=) single nucleotide variant not provided [RCV001951095] Chr15:45100173 [GRCh38]
Chr15:45392371 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4522C>T (p.Gln1508Ter) single nucleotide variant not provided [RCV001959445] Chr15:45094565 [GRCh38]
Chr15:45386763 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.3947A>T (p.His1316Leu) single nucleotide variant not provided [RCV001899980] Chr15:45095961 [GRCh38]
Chr15:45388159 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1848T>A (p.Ser616=) single nucleotide variant not provided [RCV002046230] Chr15:45106625 [GRCh38]
Chr15:45398823 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2749dup (p.Glu917fs) duplication not provided [RCV001880968] Chr15:45101894..45101895 [GRCh38]
Chr15:45394092..45394093 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1453C>T (p.Leu485Phe) single nucleotide variant not provided [RCV001877100] Chr15:45108168 [GRCh38]
Chr15:45400366 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1954T>C (p.Trp652Arg) single nucleotide variant not provided [RCV001989359] Chr15:45106319 [GRCh38]
Chr15:45398517 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2956G>A (p.Glu986Lys) single nucleotide variant not provided [RCV002033494] Chr15:45100804 [GRCh38]
Chr15:45393002 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3062G>A (p.Arg1021Gln) single nucleotide variant not provided [RCV001997469] Chr15:45100172 [GRCh38]
Chr15:45392370 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1741C>T (p.Gln581Ter) single nucleotide variant not provided [RCV001960752] Chr15:45106922 [GRCh38]
Chr15:45399120 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.488G>T (p.Arg163Leu) single nucleotide variant not provided [RCV001930748] Chr15:45111793 [GRCh38]
Chr15:45403991 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3642C>A (p.Ser1214Arg) single nucleotide variant not provided [RCV002030515] Chr15:45097665 [GRCh38]
Chr15:45389863 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002479588]|not provided [RCV001975058] Chr15:45103960 [GRCh38]
Chr15:45396158 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.3647G>A (p.Arg1216Gln) single nucleotide variant not provided [RCV001898998] Chr15:45097660 [GRCh38]
Chr15:45389858 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3239T>C (p.Ile1080Thr) single nucleotide variant not provided [RCV001877323] Chr15:45099838 [GRCh38]
Chr15:45392036 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3667C>A (p.His1223Asn) single nucleotide variant not provided [RCV001934815] Chr15:45097640 [GRCh38]
Chr15:45389838 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2932C>G (p.Gln978Glu) single nucleotide variant not provided [RCV001902393] Chr15:45100828 [GRCh38]
Chr15:45393026 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1061G>A (p.Arg354Gln) single nucleotide variant Inborn genetic diseases [RCV003365476]|not provided [RCV001904984] Chr15:45109960 [GRCh38]
Chr15:45402158 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2729A>G (p.Glu910Gly) single nucleotide variant not provided [RCV001905113] Chr15:45101915 [GRCh38]
Chr15:45394113 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1770C>A (p.Phe590Leu) single nucleotide variant not provided [RCV001905215] Chr15:45106893 [GRCh38]
Chr15:45399091 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3460G>A (p.Val1154Ile) single nucleotide variant not provided [RCV001926134] Chr15:45099438 [GRCh38]
Chr15:45391636 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3758C>T (p.Pro1253Leu) single nucleotide variant Inborn genetic diseases [RCV002555787]|not provided [RCV001940099] Chr15:45097327 [GRCh38]
Chr15:45389525 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1894_1895del (p.Lys632fs) deletion not provided [RCV001886235] Chr15:45106578..45106579 [GRCh38]
Chr15:45398776..45398777 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3509A>C (p.Asn1170Thr) single nucleotide variant not provided [RCV002036062] Chr15:45099389 [GRCh38]
Chr15:45391587 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.890C>T (p.Ala297Val) single nucleotide variant not provided [RCV001940210] Chr15:45110703 [GRCh38]
Chr15:45402901 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3415+4C>T single nucleotide variant not provided [RCV001885894] Chr15:45099658 [GRCh38]
Chr15:45391856 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4168A>C (p.Thr1390Pro) single nucleotide variant not provided [RCV001867103] Chr15:45095508 [GRCh38]
Chr15:45387706 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1688A>G (p.His563Arg) single nucleotide variant not provided [RCV002013292] Chr15:45107350 [GRCh38]
Chr15:45399548 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2245A>G (p.Met749Val) single nucleotide variant not provided [RCV002029852] Chr15:45105732 [GRCh38]
Chr15:45397930 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3258GGC[1] (p.Ala1088del) microsatellite not provided [RCV001992731] Chr15:45099814..45099816 [GRCh38]
Chr15:45392012..45392014 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His) single nucleotide variant not provided [RCV001867203]|not specified [RCV003987917] Chr15:45108074 [GRCh38]
Chr15:45400272 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.513+6G>T single nucleotide variant not provided [RCV002012547] Chr15:45111762 [GRCh38]
Chr15:45403960 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.401C>T (p.Pro134Leu) single nucleotide variant not provided [RCV001922915] Chr15:45111880 [GRCh38]
Chr15:45404078 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1601A>T (p.Asp534Val) single nucleotide variant not provided [RCV001991047] Chr15:45107437 [GRCh38]
Chr15:45399635 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2026A>G (p.Asn676Asp) single nucleotide variant not provided [RCV001975917] Chr15:45106247 [GRCh38]
Chr15:45398445 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2272G>A (p.Ala758Thr) single nucleotide variant not provided [RCV002014420] Chr15:45105705 [GRCh38]
Chr15:45397903 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3415+5G>A single nucleotide variant not provided [RCV001976046] Chr15:45099657 [GRCh38]
Chr15:45391855 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3155G>T (p.Cys1052Phe) single nucleotide variant not provided [RCV001935388] Chr15:45100079 [GRCh38]
Chr15:45392277 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3412G>C (p.Ala1138Pro) single nucleotide variant not provided [RCV001902069] Chr15:45099665 [GRCh38]
Chr15:45391863 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3943T>C (p.Tyr1315His) single nucleotide variant not provided [RCV001958365] Chr15:45095965 [GRCh38]
Chr15:45388163 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3848-2A>G single nucleotide variant not provided [RCV002030317] Chr15:45096062 [GRCh38]
Chr15:45388260 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.102A>T (p.Glu34Asp) single nucleotide variant not provided [RCV001920904] Chr15:45113045 [GRCh38]
Chr15:45405243 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1465C>T (p.Leu489Phe) single nucleotide variant not provided [RCV001919905] Chr15:45108156 [GRCh38]
Chr15:45400354 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1606C>T (p.Arg536Ter) single nucleotide variant not provided [RCV001920812] Chr15:45107432 [GRCh38]
Chr15:45399630 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.145G>A (p.Glu49Lys) single nucleotide variant not provided [RCV001977023] Chr15:45113002 [GRCh38]
Chr15:45405200 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3770A>G (p.Tyr1257Cys) single nucleotide variant not provided [RCV002013925] Chr15:45097315 [GRCh38]
Chr15:45389513 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4167C>T (p.Val1389=) single nucleotide variant not provided [RCV002188582] Chr15:45095509 [GRCh38]
Chr15:45387707 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4240-10G>A single nucleotide variant not provided [RCV002108222] Chr15:45095101 [GRCh38]
Chr15:45387299 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4320C>G (p.Asp1440Glu) single nucleotide variant not provided [RCV002130032] Chr15:45095011 [GRCh38]
Chr15:45387209 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003146508]|not provided [RCV002192274] Chr15:45108919 [GRCh38]
Chr15:45401117 [GRCh37]
Chr15:15q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363711.2(DUOX2):c.513+20G>C single nucleotide variant not provided [RCV002168322] Chr15:45111748 [GRCh38]
Chr15:45403946 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.300C>T (p.Asn100=) single nucleotide variant not provided [RCV002087313] Chr15:45112579 [GRCh38]
Chr15:45404777 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4396-7C>T single nucleotide variant not provided [RCV002146675] Chr15:45094698 [GRCh38]
Chr15:45386896 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3984A>G (p.Thr1328=) single nucleotide variant not provided [RCV002110753] Chr15:45095924 [GRCh38]
Chr15:45388122 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1574+8T>G single nucleotide variant not provided [RCV002085563] Chr15:45108039 [GRCh38]
Chr15:45400237 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4109G>A (p.Gly1370Asp) single nucleotide variant not provided [RCV002188914] Chr15:45095567 [GRCh38]
Chr15:45387765 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3565+9C>T single nucleotide variant not provided [RCV002073782] Chr15:45098000 [GRCh38]
Chr15:45390198 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1857G>A (p.Val619=) single nucleotide variant not provided [RCV002091202] Chr15:45106616 [GRCh38]
Chr15:45398814 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3268G>A (p.Val1090Ile) single nucleotide variant not provided [RCV002091263] Chr15:45099809 [GRCh38]
Chr15:45392007 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.513+7C>A single nucleotide variant not provided [RCV002165436] Chr15:45111761 [GRCh38]
Chr15:45403959 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-8C>A single nucleotide variant not provided [RCV002085960] Chr15:45098066 [GRCh38]
Chr15:45390264 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.198C>T (p.Ala66=) single nucleotide variant not provided [RCV002075026] Chr15:45112681 [GRCh38]
Chr15:45404879 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2865C>A (p.Ile955=) single nucleotide variant not provided [RCV002106818] Chr15:45101261 [GRCh38]
Chr15:45393459 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2718T>C (p.Ser906=) single nucleotide variant not provided [RCV002091298] Chr15:45101926 [GRCh38]
Chr15:45394124 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2211C>T (p.Cys737=) single nucleotide variant not provided [RCV002108281] Chr15:45105766 [GRCh38]
Chr15:45397964 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2775C>T (p.His925=) single nucleotide variant not provided [RCV002092437] Chr15:45101869 [GRCh38]
Chr15:45394067 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3819C>T (p.Ser1273=) single nucleotide variant DUOX2-related condition [RCV003911212]|not provided [RCV002170171] Chr15:45097266 [GRCh38]
Chr15:45389464 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3416-18A>G single nucleotide variant not provided [RCV002086204] Chr15:45099500 [GRCh38]
Chr15:45391698 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2582G>A (p.Arg861His) single nucleotide variant not provided [RCV002085601] Chr15:45104032 [GRCh38]
Chr15:45396230 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3147G>T (p.Ser1049=) single nucleotide variant not provided [RCV002185546] Chr15:45100087 [GRCh38]
Chr15:45392285 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-13C>T single nucleotide variant not provided [RCV002089275] Chr15:45098071 [GRCh38]
Chr15:45390269 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1574+12del deletion not provided [RCV002072433] Chr15:45108035 [GRCh38]
Chr15:45400233 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.477C>T (p.Pro159=) single nucleotide variant not provided [RCV002185075] Chr15:45111804 [GRCh38]
Chr15:45404002 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2655-16T>C single nucleotide variant not provided [RCV002191543] Chr15:45102005 [GRCh38]
Chr15:45394203 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3276C>T (p.Phe1092=) single nucleotide variant not provided [RCV002074883] Chr15:45099801 [GRCh38]
Chr15:45391999 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.363G>T (p.Thr121=) single nucleotide variant not provided [RCV002167001] Chr15:45111918 [GRCh38]
Chr15:45404116 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3378C>T (p.Phe1126=) single nucleotide variant not provided [RCV002108104] Chr15:45099699 [GRCh38]
Chr15:45391897 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2852-16T>C single nucleotide variant not provided [RCV002089558] Chr15:45101290 [GRCh38]
Chr15:45393488 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2149-11C>G single nucleotide variant not provided [RCV002110807] Chr15:45105839 [GRCh38]
Chr15:45398037 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4626G>T (p.Met1542Ile) single nucleotide variant not provided [RCV002085686] Chr15:45094171 [GRCh38]
Chr15:45386369 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.513+12A>G single nucleotide variant not provided [RCV002146394] Chr15:45111756 [GRCh38]
Chr15:45403954 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2751G>A (p.Glu917=) single nucleotide variant not provided [RCV002146482] Chr15:45101893 [GRCh38]
Chr15:45394091 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.160+8C>A single nucleotide variant not provided [RCV002092294] Chr15:45112979 [GRCh38]
Chr15:45405177 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.192T>C (p.Asn64=) single nucleotide variant DUOX2-related condition [RCV003923795]|not provided [RCV002146549] Chr15:45112687 [GRCh38]
Chr15:45404885 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4485C>T (p.Phe1495=) single nucleotide variant not provided [RCV002105850] Chr15:45094602 [GRCh38]
Chr15:45386800 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3255C>G (p.Gly1085=) single nucleotide variant not provided [RCV002186516] Chr15:45099822 [GRCh38]
Chr15:45392020 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1626C>T (p.Asp542=) single nucleotide variant not provided [RCV002106030] Chr15:45107412 [GRCh38]
Chr15:45399610 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2851+20T>C single nucleotide variant not provided [RCV002109917] Chr15:45101773 [GRCh38]
Chr15:45393971 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1173G>A (p.Leu391=) single nucleotide variant not provided [RCV002208472] Chr15:45109585 [GRCh38]
Chr15:45401783 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1212C>T (p.Asn404=) single nucleotide variant not provided [RCV002173669] Chr15:45109546 [GRCh38]
Chr15:45401744 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3005+19C>T single nucleotide variant not provided [RCV002149688] Chr15:45100736 [GRCh38]
Chr15:45392934 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1333C>T (p.Leu445=) single nucleotide variant not provided [RCV002151263] Chr15:45108854 [GRCh38]
Chr15:45401052 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.987G>T (p.Val329=) single nucleotide variant not provided [RCV002167045] Chr15:45110481 [GRCh38]
Chr15:45402679 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2922-19C>A single nucleotide variant not provided [RCV002195059] Chr15:45100857 [GRCh38]
Chr15:45393055 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4081-13C>G single nucleotide variant not provided [RCV002153552] Chr15:45095608 [GRCh38]
Chr15:45387806 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3184+10C>T single nucleotide variant not provided [RCV002150673] Chr15:45100040 [GRCh38]
Chr15:45392238 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.369T>C (p.Gly123=) single nucleotide variant not provided [RCV002191414] Chr15:45111912 [GRCh38]
Chr15:45404110 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2943G>A (p.Gly981=) single nucleotide variant not provided [RCV002193187] Chr15:45100817 [GRCh38]
Chr15:45393015 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2149-6A>C single nucleotide variant not provided [RCV002194587] Chr15:45105834 [GRCh38]
Chr15:45398032 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3258G>A (p.Thr1086=) single nucleotide variant not provided [RCV002096322] Chr15:45099819 [GRCh38]
Chr15:45392017 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4081-12C>A single nucleotide variant not provided [RCV002079801] Chr15:45095607 [GRCh38]
Chr15:45387805 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.326-15G>T single nucleotide variant not provided [RCV002096993] Chr15:45111970 [GRCh38]
Chr15:45404168 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3954C>T (p.Phe1318=) single nucleotide variant not provided [RCV002196922] Chr15:45095954 [GRCh38]
Chr15:45388152 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2581C>T (p.Arg861Cys) single nucleotide variant not provided [RCV002117093] Chr15:45104033 [GRCh38]
Chr15:45396231 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3594C>G (p.Val1198=) single nucleotide variant not provided [RCV002078005] Chr15:45097713 [GRCh38]
Chr15:45389911 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4081-11T>G single nucleotide variant not provided [RCV002193440] Chr15:45095606 [GRCh38]
Chr15:45387804 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.325+16_325+18del deletion not provided [RCV002131242] Chr15:45112536..45112538 [GRCh38]
Chr15:45404734..45404736 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3847+19C>T single nucleotide variant not provided [RCV002194659] Chr15:45097219 [GRCh38]
Chr15:45389417 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1132-18T>G single nucleotide variant not provided [RCV002078974] Chr15:45109644 [GRCh38]
Chr15:45401842 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2334+15G>A single nucleotide variant not provided [RCV002174062] Chr15:45105628 [GRCh38]
Chr15:45397826 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3694-11C>T single nucleotide variant not provided [RCV002174885] Chr15:45097402 [GRCh38]
Chr15:45389600 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.9T>G (p.Arg3=) single nucleotide variant not provided [RCV002170218] Chr15:45113403 [GRCh38]
Chr15:45405601 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2619C>T (p.Gly873=) single nucleotide variant not provided [RCV002147200] Chr15:45103995 [GRCh38]
Chr15:45396193 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4584G>A (p.Lys1528=) single nucleotide variant not provided [RCV002189708] Chr15:45094213 [GRCh38]
Chr15:45386411 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4080+11C>T single nucleotide variant not provided [RCV002078143] Chr15:45095817 [GRCh38]
Chr15:45388015 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1693+20A>G single nucleotide variant not provided [RCV002213959] Chr15:45107325 [GRCh38]
Chr15:45399523 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1857G>C (p.Val619=) single nucleotide variant not provided [RCV002095408] Chr15:45106616 [GRCh38]
Chr15:45398814 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-6C>T single nucleotide variant not provided [RCV002213900] Chr15:45098064 [GRCh38]
Chr15:45390262 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3415+9C>A single nucleotide variant not provided [RCV002095431] Chr15:45099653 [GRCh38]
Chr15:45391851 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1153C>G (p.Gln385Glu) single nucleotide variant Inborn genetic diseases [RCV003025488]|not provided [RCV002152823] Chr15:45109605 [GRCh38]
Chr15:45401803 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.4240-18C>T single nucleotide variant not provided [RCV002149284] Chr15:45095109 [GRCh38]
Chr15:45387307 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1398+18T>C single nucleotide variant not provided [RCV002105572] Chr15:45108771 [GRCh38]
Chr15:45400969 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2079C>T (p.Val693=) single nucleotide variant not provided [RCV002172412] Chr15:45106194 [GRCh38]
Chr15:45398392 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.255C>T (p.Ser85=) single nucleotide variant not provided [RCV002151879] Chr15:45112624 [GRCh38]
Chr15:45404822 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3882C>A (p.Gly1294=) single nucleotide variant not provided [RCV002195632] Chr15:45096026 [GRCh38]
Chr15:45388224 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4528C>T (p.Arg1510Cys) single nucleotide variant not provided [RCV002094309] Chr15:45094269 [GRCh38]
Chr15:45386467 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2799C>T (p.Ser933=) single nucleotide variant not provided [RCV002094325] Chr15:45101845 [GRCh38]
Chr15:45394043 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2451C>G (p.Leu817=) single nucleotide variant not provided [RCV002108362] Chr15:45104249 [GRCh38]
Chr15:45396447 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1827C>G (p.Pro609=) single nucleotide variant not provided [RCV002079676] Chr15:45106836 [GRCh38]
Chr15:45399034 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2895G>A (p.Ser965=) single nucleotide variant not provided [RCV002093181] Chr15:45101231 [GRCh38]
Chr15:45393429 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1575-12C>A single nucleotide variant not provided [RCV002114812] Chr15:45107475 [GRCh38]
Chr15:45399673 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4542G>T (p.Val1514=) single nucleotide variant not provided [RCV002079169] Chr15:45094255 [GRCh38]
Chr15:45386453 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3991C>T (p.Leu1331=) single nucleotide variant not provided [RCV002196897] Chr15:45095917 [GRCh38]
Chr15:45388115 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.326-19T>C single nucleotide variant not provided [RCV002112030] Chr15:45111974 [GRCh38]
Chr15:45404172 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.975C>T (p.Ser325=) single nucleotide variant not provided [RCV002095046] Chr15:45110493 [GRCh38]
Chr15:45402691 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2754G>A (p.Glu918=) single nucleotide variant not provided [RCV002113516] Chr15:45101890 [GRCh38]
Chr15:45394088 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1662C>T (p.Ala554=) single nucleotide variant not provided [RCV002114371] Chr15:45107376 [GRCh38]
Chr15:45399574 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3627C>T (p.His1209=) single nucleotide variant DUOX2-related condition [RCV003941292]|not provided [RCV002176808] Chr15:45097680 [GRCh38]
Chr15:45389878 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4074C>T (p.Tyr1358=) single nucleotide variant not provided [RCV002081376] Chr15:45095834 [GRCh38]
Chr15:45388032 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1694-19T>G single nucleotide variant not provided [RCV002160053] Chr15:45106988 [GRCh38]
Chr15:45399186 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1458T>G (p.Leu486=) single nucleotide variant not provided [RCV002158099] Chr15:45108163 [GRCh38]
Chr15:45400361 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2436C>T (p.Ala812=) single nucleotide variant not provided [RCV002098457] Chr15:45104264 [GRCh38]
Chr15:45396462 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2454G>A (p.Lys818=) single nucleotide variant not provided [RCV002082076] Chr15:45104246 [GRCh38]
Chr15:45396444 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3612C>T (p.Val1204=) single nucleotide variant not provided [RCV002141784] Chr15:45097695 [GRCh38]
Chr15:45389893 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2149-18C>T single nucleotide variant not provided [RCV002099467] Chr15:45105846 [GRCh38]
Chr15:45398044 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.326-11C>T single nucleotide variant not provided [RCV002161277] Chr15:45111966 [GRCh38]
Chr15:45404164 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.413_414delinsTT (p.Pro138Leu) indel not provided [RCV002099689] Chr15:45111867..45111868 [GRCh38]
Chr15:45404065..45404066 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4395+15G>A single nucleotide variant not provided [RCV002177616] Chr15:45094921 [GRCh38]
Chr15:45387119 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1173G>C (p.Leu391=) single nucleotide variant not provided [RCV002202031] Chr15:45109585 [GRCh38]
Chr15:45401783 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1131+8T>A single nucleotide variant DUOX2-related condition [RCV003951247]|not provided [RCV002136004] Chr15:45109882 [GRCh38]
Chr15:45402080 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.883-19G>A single nucleotide variant not provided [RCV002121974] Chr15:45110729 [GRCh38]
Chr15:45402927 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2464A>G (p.Met822Val) single nucleotide variant not provided [RCV002200434] Chr15:45104236 [GRCh38]
Chr15:45396434 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3366C>T (p.Ala1122=) single nucleotide variant not provided [RCV002141761] Chr15:45099711 [GRCh38]
Chr15:45391909 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.42T>C (p.Ala14=) single nucleotide variant not provided [RCV002180112] Chr15:45113370 [GRCh38]
Chr15:45405568 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4525-16T>C single nucleotide variant not provided [RCV002164214] Chr15:45094288 [GRCh38]
Chr15:45386486 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3565+10G>A single nucleotide variant not provided [RCV002120761] Chr15:45097999 [GRCh38]
Chr15:45390197 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.943+11G>A single nucleotide variant not provided [RCV002164537] Chr15:45110639 [GRCh38]
Chr15:45402837 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3936C>T (p.Thr1312=) single nucleotide variant not provided [RCV002164638] Chr15:45095972 [GRCh38]
Chr15:45388170 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3132T>C (p.Cys1044=) single nucleotide variant not provided [RCV002101402] Chr15:45100102 [GRCh38]
Chr15:45392300 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4395+14C>T single nucleotide variant not provided [RCV002135442] Chr15:45094922 [GRCh38]
Chr15:45387120 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2199A>G (p.Leu733=) single nucleotide variant not provided [RCV002216593] Chr15:45105778 [GRCh38]
Chr15:45397976 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.883-20C>T single nucleotide variant not provided [RCV002140501] Chr15:45110730 [GRCh38]
Chr15:45402928 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3957A>T (p.Thr1319=) single nucleotide variant not provided [RCV002081423] Chr15:45095951 [GRCh38]
Chr15:45388149 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2149-18C>A single nucleotide variant not provided [RCV002139213] Chr15:45105846 [GRCh38]
Chr15:45398044 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1311G>T (p.Gly437=) single nucleotide variant not provided [RCV002154457] Chr15:45108876 [GRCh38]
Chr15:45401074 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3184+14G>C single nucleotide variant not provided [RCV002137858] Chr15:45100036 [GRCh38]
Chr15:45392234 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2766G>A (p.Glu922=) single nucleotide variant not provided [RCV002220865] Chr15:45101878 [GRCh38]
Chr15:45394076 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.71G>A (p.Gly24Asp) single nucleotide variant not provided [RCV002123429] Chr15:45113076 [GRCh38]
Chr15:45405274 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.944-15G>A single nucleotide variant not provided [RCV002139806] Chr15:45110539 [GRCh38]
Chr15:45402737 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4551C>T (p.Cys1517=) single nucleotide variant not provided [RCV002200634] Chr15:45094246 [GRCh38]
Chr15:45386444 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.70+22C>T single nucleotide variant not provided [RCV002138511] Chr15:45113320 [GRCh38]
Chr15:45405518 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3694-10G>A single nucleotide variant not provided [RCV002199151] Chr15:45097401 [GRCh38]
Chr15:45389599 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.326-11del deletion not provided [RCV002136938] Chr15:45111966 [GRCh38]
Chr15:45404164 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1818C>T (p.Cys606=) single nucleotide variant not provided [RCV002176866] Chr15:45106845 [GRCh38]
Chr15:45399043 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1946-16A>G single nucleotide variant not provided [RCV002156086] Chr15:45106343 [GRCh38]
Chr15:45398541 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3789G>A (p.Val1263=) single nucleotide variant DUOX2-related condition [RCV003903451]|not provided [RCV002183132] Chr15:45097296 [GRCh38]
Chr15:45389494 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1235-6C>T single nucleotide variant not provided [RCV002220527] Chr15:45108958 [GRCh38]
Chr15:45401156 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3594C>T (p.Val1198=) single nucleotide variant not provided [RCV002175713] Chr15:45097713 [GRCh38]
Chr15:45389911 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4395+15G>T single nucleotide variant not provided [RCV002100403] Chr15:45094921 [GRCh38]
Chr15:45387119 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3987C>T (p.Leu1329=) single nucleotide variant not provided [RCV002120479] Chr15:45095921 [GRCh38]
Chr15:45388119 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4603A>G (p.Arg1535Gly) single nucleotide variant not provided [RCV002184109] Chr15:45094194 [GRCh38]
Chr15:45386392 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.477C>A (p.Pro159=) single nucleotide variant not provided [RCV002158693] Chr15:45111804 [GRCh38]
Chr15:45404002 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2921+16G>T single nucleotide variant not provided [RCV002180364] Chr15:45101189 [GRCh38]
Chr15:45393387 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3498C>T (p.Asn1166=) single nucleotide variant not provided [RCV002142730] Chr15:45099400 [GRCh38]
Chr15:45391598 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1127G>A (p.Arg376Gln) single nucleotide variant not provided [RCV003112386] Chr15:45109894 [GRCh38]
Chr15:45402092 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3210G>A (p.Ser1070=) single nucleotide variant not provided [RCV003112521] Chr15:45099867 [GRCh38]
Chr15:45392065 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2250C>T (p.Ser750=) single nucleotide variant not provided [RCV003115934] Chr15:45105727 [GRCh38]
Chr15:45397925 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3163G>A (p.Val1055Met) single nucleotide variant not provided [RCV003112545] Chr15:45100071 [GRCh38]
Chr15:45392269 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3443A>G (p.Asn1148Ser) single nucleotide variant not provided [RCV003115979] Chr15:45099455 [GRCh38]
Chr15:45391653 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_45393971)_(45394207_?)del deletion not provided [RCV003116685] Chr15:45393971..45394207 [GRCh37]
Chr15:15q21.1		 pathogenic
NC_000015.9:g.(?_45390187)_(45393492_?)del deletion not provided [RCV003116686] Chr15:45390187..45393492 [GRCh37]
Chr15:15q21.1		 uncertain significance
NC_000015.9:g.(?_45152372)_(45390276_?)dup duplication not provided [RCV003116687] Chr15:45152372..45390276 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1300_1320del (p.Arg434_Ser440del) deletion not provided [RCV003112308] Chr15:45108867..45108887 [GRCh38]
Chr15:45401065..45401085 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2902A>T (p.Thr968Ser) single nucleotide variant not provided [RCV003121059] Chr15:45101224 [GRCh38]
Chr15:45393422 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.587G>A (p.Arg196Gln) single nucleotide variant Inborn genetic diseases [RCV003276399] Chr15:45111512 [GRCh38]
Chr15:45403710 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4006G>C (p.Val1336Leu) single nucleotide variant not provided [RCV003149243] Chr15:45095902 [GRCh38]
Chr15:45388100 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.425C>G (p.Pro142Arg) single nucleotide variant See cases [RCV002252786]|Thyroid dyshormonogenesis 6 [RCV002251058] Chr15:45111856 [GRCh38]
Chr15:45404054 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4634A>G (p.Tyr1545Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002227609] Chr15:45094163 [GRCh38]
Chr15:45386361 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3251G>A (p.Arg1084Gln) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV002251223]|not provided [RCV003094087] Chr15:45099826 [GRCh38]
Chr15:45392024 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1718A>G (p.Gln573Arg) single nucleotide variant not specified [RCV003231041] Chr15:45106945 [GRCh38]
Chr15:45399143 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1461_1462delinsA (p.Leu489fs) indel not provided [RCV002275509] Chr15:45108159..45108160 [GRCh38]
Chr15:45400357..45400358 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.1136C>G (p.Pro379Arg) single nucleotide variant not provided [RCV002293924] Chr15:45109622 [GRCh38]
Chr15:45401820 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.422A>G (p.Asp141Gly) single nucleotide variant Abnormal circulating thyroid hormone concentration [RCV002287708]|not provided [RCV003774954] Chr15:45111859 [GRCh38]
Chr15:45404057 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3415+1G>C single nucleotide variant not provided [RCV002279137] Chr15:45099661 [GRCh38]
Chr15:45391859 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3235G>A (p.Gly1079Ser) single nucleotide variant not provided [RCV002260804] Chr15:45099842 [GRCh38]
Chr15:45392040 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3940G>A (p.Glu1314Lys) single nucleotide variant not specified [RCV003236573] Chr15:45095968 [GRCh38]
Chr15:45388166 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3395T>A (p.Met1132Lys) single nucleotide variant not specified [RCV003236574] Chr15:45099682 [GRCh38]
Chr15:45391880 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2696A>T (p.Gln899Leu) single nucleotide variant Inborn genetic diseases [RCV003300405] Chr15:45101948 [GRCh38]
Chr15:45394146 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs) duplication Thyroid dyshormonogenesis 6 [RCV002466907] Chr15:45108141..45108142 [GRCh38]
Chr15:45400339..45400340 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.403C>T (p.Pro135Ser) single nucleotide variant not provided [RCV002968003] Chr15:45111878 [GRCh38]
Chr15:45404076 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter) single nucleotide variant not provided [RCV002467110] Chr15:45100173 [GRCh38]
Chr15:45392371 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.1286G>C (p.Ser429Thr) single nucleotide variant not provided [RCV002303915] Chr15:45108901 [GRCh38]
Chr15:45401099 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.178C>G (p.Arg60Gly) single nucleotide variant not provided [RCV002304621] Chr15:45112701 [GRCh38]
Chr15:45404899 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2551T>C (p.Phe851Leu) single nucleotide variant not provided [RCV002304810] Chr15:45104149 [GRCh38]
Chr15:45396347 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.149G>A (p.Arg50His) single nucleotide variant not provided [RCV002298395] Chr15:45112998 [GRCh38]
Chr15:45405196 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2582G>C (p.Arg861Pro) single nucleotide variant not provided [RCV002297976] Chr15:45104032 [GRCh38]
Chr15:45396230 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1030G>T (p.Val344Phe) single nucleotide variant not provided [RCV002296385] Chr15:45110438 [GRCh38]
Chr15:45402636 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3527C>T (p.Pro1176Leu) single nucleotide variant not provided [RCV002300073] Chr15:45098047 [GRCh38]
Chr15:45390245 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2365A>C (p.Thr789Pro) single nucleotide variant not provided [RCV002301164] Chr15:45104335 [GRCh38]
Chr15:45396533 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2010G>T (p.Arg670Ser) single nucleotide variant not provided [RCV002297945] Chr15:45106263 [GRCh38]
Chr15:45398461 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2922-7T>G single nucleotide variant not provided [RCV002967667] Chr15:45100845 [GRCh38]
Chr15:45393043 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.161-13C>T single nucleotide variant not provided [RCV002771233] Chr15:45112731 [GRCh38]
Chr15:45404929 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.343G>C (p.Asp115His) single nucleotide variant Inborn genetic diseases [RCV002729661] Chr15:45111938 [GRCh38]
Chr15:45404136 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4581G>T (p.Glu1527Asp) single nucleotide variant not provided [RCV003012145] Chr15:45094216 [GRCh38]
Chr15:45386414 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1845C>T (p.Leu615=) single nucleotide variant not provided [RCV002751538] Chr15:45106628 [GRCh38]
Chr15:45398826 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2869_2870insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAGATATCTTTA (p.Lys957delinsIlePhePhePhePhePhePheXaaXaaXaaXaaAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer) insertion not provided [RCV002994310] Chr15:45101256..45101257 [GRCh38]
Chr15:45393454..45393455 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4332G>A (p.Leu1444=) single nucleotide variant not provided [RCV003014162] Chr15:45094999 [GRCh38]
Chr15:45387197 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4113T>G (p.His1371Gln) single nucleotide variant not provided [RCV002858211] Chr15:45095563 [GRCh38]
Chr15:45387761 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2726G>A (p.Arg909Gln) single nucleotide variant Inborn genetic diseases [RCV002616544]|not provided [RCV002628223] Chr15:45101918 [GRCh38]
Chr15:45394116 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4268A>G (p.Gln1423Arg) single nucleotide variant not provided [RCV002771346] Chr15:45095063 [GRCh38]
Chr15:45387261 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3546G>A (p.Trp1182Ter) single nucleotide variant not provided [RCV002902919] Chr15:45098028 [GRCh38]
Chr15:45390226 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2905C>T (p.Arg969Trp) single nucleotide variant not provided [RCV002971180] Chr15:45101221 [GRCh38]
Chr15:45393419 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3566-14C>G single nucleotide variant not provided [RCV002771413] Chr15:45097755 [GRCh38]
Chr15:45389953 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1693+16G>A single nucleotide variant not provided [RCV002730237] Chr15:45107329 [GRCh38]
Chr15:45399527 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.927A>T (p.Thr309=) single nucleotide variant not provided [RCV002862356] Chr15:45110666 [GRCh38]
Chr15:45402864 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3605T>C (p.Met1202Thr) single nucleotide variant not provided [RCV002731104] Chr15:45097702 [GRCh38]
Chr15:45389900 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3990C>T (p.Ser1330=) single nucleotide variant not provided [RCV003015820] Chr15:45095918 [GRCh38]
Chr15:45388116 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.325+12G>C single nucleotide variant not provided [RCV003013495] Chr15:45112542 [GRCh38]
Chr15:45404740 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1023C>G (p.Pro341=) single nucleotide variant not provided [RCV002880412] Chr15:45110445 [GRCh38]
Chr15:45402643 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.950G>A (p.Arg317His) single nucleotide variant not provided [RCV002995106] Chr15:45110518 [GRCh38]
Chr15:45402716 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4533G>T (p.Lys1511Asn) single nucleotide variant Inborn genetic diseases [RCV002836795] Chr15:45094264 [GRCh38]
Chr15:45386462 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1040+11G>T single nucleotide variant not provided [RCV002880680] Chr15:45110417 [GRCh38]
Chr15:45402615 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1694-20T>C single nucleotide variant not provided [RCV002726817] Chr15:45106989 [GRCh38]
Chr15:45399187 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3881G>T (p.Gly1294Val) single nucleotide variant not provided [RCV003075782] Chr15:45096027 [GRCh38]
Chr15:45388225 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3097C>T (p.Arg1033Cys) single nucleotide variant not provided [RCV002948155] Chr15:45100137 [GRCh38]
Chr15:45392335 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4616C>G (p.Ala1539Gly) single nucleotide variant not provided [RCV003013149] Chr15:45094181 [GRCh38]
Chr15:45386379 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2851+18G>A single nucleotide variant not provided [RCV003014872] Chr15:45101775 [GRCh38]
Chr15:45393973 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2428G>A (p.Glu810Lys) single nucleotide variant not provided [RCV002994691] Chr15:45104272 [GRCh38]
Chr15:45396470 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3479T>C (p.Leu1160Pro) single nucleotide variant Inborn genetic diseases [RCV002883952]|not provided [RCV003777891] Chr15:45099419 [GRCh38]
Chr15:45391617 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.378C>G (p.Ala126=) single nucleotide variant not provided [RCV002819403] Chr15:45111903 [GRCh38]
Chr15:45404101 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1535G>A (p.Arg512Gln) single nucleotide variant not provided [RCV002614671] Chr15:45108086 [GRCh38]
Chr15:45400284 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2880C>G (p.Ile960Met) single nucleotide variant not provided [RCV003017299] Chr15:45101246 [GRCh38]
Chr15:45393444 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1981C>T (p.Pro661Ser) single nucleotide variant not provided [RCV003017718] Chr15:45106292 [GRCh38]
Chr15:45398490 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3415+3A>G single nucleotide variant not provided [RCV002858584] Chr15:45099659 [GRCh38]
Chr15:45391857 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.936G>T (p.Glu312Asp) single nucleotide variant not provided [RCV003016810] Chr15:45110657 [GRCh38]
Chr15:45402855 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1914G>A (p.Val638=) single nucleotide variant not provided [RCV003035048] Chr15:45106559 [GRCh38]
Chr15:45398757 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3209C>T (p.Ser1070Leu) single nucleotide variant Inborn genetic diseases [RCV002756383]|not provided [RCV002756382] Chr15:45099868 [GRCh38]
Chr15:45392066 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3702C>T (p.Ile1234=) single nucleotide variant not provided [RCV002819507] Chr15:45097383 [GRCh38]
Chr15:45389581 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4528C>G (p.Arg1510Gly) single nucleotide variant not provided [RCV002730628] Chr15:45094269 [GRCh38]
Chr15:45386467 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.191A>G (p.Asn64Ser) single nucleotide variant not provided [RCV002616931] Chr15:45112688 [GRCh38]
Chr15:45404886 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.376G>T (p.Ala126Ser) single nucleotide variant Inborn genetic diseases [RCV002687035] Chr15:45111905 [GRCh38]
Chr15:45404103 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3272C>T (p.Ser1091Phe) single nucleotide variant not provided [RCV002837779] Chr15:45099805 [GRCh38]
Chr15:45392003 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1284C>T (p.Ser428=) single nucleotide variant not provided [RCV002842214] Chr15:45108903 [GRCh38]
Chr15:45401101 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4240-5C>T single nucleotide variant DUOX2-related condition [RCV003898484]|not provided [RCV002681828] Chr15:45095096 [GRCh38]
Chr15:45387294 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3126C>T (p.Ile1042=) single nucleotide variant not provided [RCV002614739] Chr15:45100108 [GRCh38]
Chr15:45392306 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1911C>A (p.Ser637Arg) single nucleotide variant not provided [RCV002816475] Chr15:45106562 [GRCh38]
Chr15:45398760 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3939C>T (p.Thr1313=) single nucleotide variant not provided [RCV002775150] Chr15:45095969 [GRCh38]
Chr15:45388167 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1874G>A (p.Arg625Gln) single nucleotide variant not provided [RCV002775217] Chr15:45106599 [GRCh38]
Chr15:45398797 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1180_1181del (p.Met394fs) deletion not provided [RCV002994092] Chr15:45109577..45109578 [GRCh38]
Chr15:45401775..45401776 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2525G>A (p.Arg842Gln) single nucleotide variant Inborn genetic diseases [RCV002687935] Chr15:45104175 [GRCh38]
Chr15:45396373 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.838G>A (p.Glu280Lys) single nucleotide variant Inborn genetic diseases [RCV002840891]|not specified [RCV003988071] Chr15:45111155 [GRCh38]
Chr15:45403353 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3260C>T (p.Ala1087Val) single nucleotide variant not provided [RCV002615167] Chr15:45099817 [GRCh38]
Chr15:45392015 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.944-14T>C single nucleotide variant not provided [RCV002617717] Chr15:45110538 [GRCh38]
Chr15:45402736 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2307G>A (p.Glu769=) single nucleotide variant not provided [RCV002996243] Chr15:45105670 [GRCh38]
Chr15:45397868 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3415+4C>G single nucleotide variant not provided [RCV002751549] Chr15:45099658 [GRCh38]
Chr15:45391856 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.161-14C>T single nucleotide variant not provided [RCV002881903] Chr15:45112732 [GRCh38]
Chr15:45404930 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4395+11G>T single nucleotide variant not provided [RCV002996649] Chr15:45094925 [GRCh38]
Chr15:45387123 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.201C>A (p.Asp67Glu) single nucleotide variant not provided [RCV002617498] Chr15:45112678 [GRCh38]
Chr15:45404876 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3062_3088del (p.Arg1021_Gln1029del) deletion not provided [RCV002662834] Chr15:45100146..45100172 [GRCh38]
Chr15:45392344..45392370 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2972del (p.Gly991fs) deletion not provided [RCV002848389] Chr15:45100788 [GRCh38]
Chr15:45392986 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2663T>C (p.Ile888Thr) single nucleotide variant not provided [RCV002639846] Chr15:45101981 [GRCh38]
Chr15:45394179 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2430G>A (p.Glu810=) single nucleotide variant not provided [RCV002889608] Chr15:45104270 [GRCh38]
Chr15:45396468 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3674A>G (p.Tyr1225Cys) single nucleotide variant not provided [RCV002593418] Chr15:45097633 [GRCh38]
Chr15:45389831 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.523G>A (p.Val175Met) single nucleotide variant Inborn genetic diseases [RCV002799887] Chr15:45111576 [GRCh38]
Chr15:45403774 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.134T>C (p.Leu45Pro) single nucleotide variant not provided [RCV002591612] Chr15:45113013 [GRCh38]
Chr15:45405211 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.166C>A (p.Arg56=) single nucleotide variant not provided [RCV002639424] Chr15:45112713 [GRCh38]
Chr15:45404911 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1554G>A (p.Trp518Ter) single nucleotide variant not provided [RCV003054647] Chr15:45108067 [GRCh38]
Chr15:45400265 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1517A>G (p.Asp506Gly) single nucleotide variant not provided [RCV003022042] Chr15:45108104 [GRCh38]
Chr15:45400302 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4127A>C (p.Lys1376Thr) single nucleotide variant not provided [RCV002659487] Chr15:45095549 [GRCh38]
Chr15:45387747 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1327C>T (p.Gln443Ter) single nucleotide variant not provided [RCV002825556] Chr15:45108860 [GRCh38]
Chr15:45401058 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.307G>T (p.Val103Leu) single nucleotide variant not provided [RCV002923310] Chr15:45112572 [GRCh38]
Chr15:45404770 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4598T>C (p.Val1533Ala) single nucleotide variant not provided [RCV002590332] Chr15:45094199 [GRCh38]
Chr15:45386397 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3146C>T (p.Ser1049Leu) single nucleotide variant not provided [RCV002592966] Chr15:45100088 [GRCh38]
Chr15:45392286 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.625C>G (p.Pro209Ala) single nucleotide variant Inborn genetic diseases [RCV002848883] Chr15:45111474 [GRCh38]
Chr15:45403672 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1717C>T (p.Gln573Ter) single nucleotide variant not provided [RCV003079189] Chr15:45106946 [GRCh38]
Chr15:45399144 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.281G>T (p.Gly94Val) single nucleotide variant not provided [RCV002735278] Chr15:45112598 [GRCh38]
Chr15:45404796 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.325+5G>A single nucleotide variant not provided [RCV003100294] Chr15:45112549 [GRCh38]
Chr15:45404747 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2506A>G (p.Asn836Asp) single nucleotide variant not provided [RCV003019634] Chr15:45104194 [GRCh38]
Chr15:45396392 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2703C>T (p.Ala901=) single nucleotide variant not provided [RCV002979155] Chr15:45101941 [GRCh38]
Chr15:45394139 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3970C>G (p.Pro1324Ala) single nucleotide variant not provided [RCV002590505] Chr15:45095938 [GRCh38]
Chr15:45388136 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.70+23G>C single nucleotide variant not provided [RCV003019651] Chr15:45113319 [GRCh38]
Chr15:45405517 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.883-20C>A single nucleotide variant not provided [RCV002824131] Chr15:45110730 [GRCh38]
Chr15:45402928 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3439G>A (p.Val1147Ile) single nucleotide variant not provided [RCV002705339] Chr15:45099459 [GRCh38]
Chr15:45391657 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1047C>A (p.Ala349=) single nucleotide variant not provided [RCV003019840] Chr15:45109974 [GRCh38]
Chr15:45402172 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1574+12C>T single nucleotide variant not provided [RCV002913016] Chr15:45108035 [GRCh38]
Chr15:45400233 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1265G>C (p.Arg422Pro) single nucleotide variant not provided [RCV002736639] Chr15:45108922 [GRCh38]
Chr15:45401120 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3257C>T (p.Thr1086Met) single nucleotide variant not provided [RCV003000014] Chr15:45099820 [GRCh38]
Chr15:45392018 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2216G>A (p.Arg739His) single nucleotide variant not provided [RCV002637037] Chr15:45105761 [GRCh38]
Chr15:45397959 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1585AAG[1] (p.Lys530del) microsatellite not provided [RCV002846432] Chr15:45107448..45107450 [GRCh38]
Chr15:45399646..45399648 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3006-11C>T single nucleotide variant not provided [RCV003035453] Chr15:45100239 [GRCh38]
Chr15:45392437 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2922-11C>T single nucleotide variant not provided [RCV002736695] Chr15:45100849 [GRCh38]
Chr15:45393047 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.208T>C (p.Tyr70His) single nucleotide variant not provided [RCV002846344] Chr15:45112671 [GRCh38]
Chr15:45404869 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3515+1G>A single nucleotide variant not provided [RCV002820283] Chr15:45099382 [GRCh38]
Chr15:45391580 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3709_3711dup (p.Ser1237_Tyr1238insSer) duplication not provided [RCV002781336] Chr15:45097373..45097374 [GRCh38]
Chr15:45389571..45389572 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1040+12G>T single nucleotide variant not provided [RCV003019656] Chr15:45110416 [GRCh38]
Chr15:45402614 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3284C>G (p.Ser1095Cys) single nucleotide variant not provided [RCV002622144] Chr15:45099793 [GRCh38]
Chr15:45391991 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4141G>C (p.Val1381Leu) single nucleotide variant not provided [RCV002619490] Chr15:45095535 [GRCh38]
Chr15:45387733 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.316G>T (p.Val106Phe) single nucleotide variant Inborn genetic diseases [RCV002845384] Chr15:45112563 [GRCh38]
Chr15:45404761 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.965C>T (p.Pro322Leu) single nucleotide variant not provided [RCV002761675] Chr15:45110503 [GRCh38]
Chr15:45402701 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2887C>G (p.Arg963Gly) single nucleotide variant not provided [RCV002795424] Chr15:45101239 [GRCh38]
Chr15:45393437 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1047C>T (p.Ala349=) single nucleotide variant not provided [RCV002912542] Chr15:45109974 [GRCh38]
Chr15:45402172 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4270C>G (p.Arg1424Gly) single nucleotide variant not provided [RCV002694949] Chr15:45095061 [GRCh38]
Chr15:45387259 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3334A>G (p.Thr1112Ala) single nucleotide variant not provided [RCV003001843] Chr15:45099743 [GRCh38]
Chr15:45391941 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2800G>T (p.Glu934Ter) single nucleotide variant not provided [RCV002735313] Chr15:45101844 [GRCh38]
Chr15:45394042 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4396-3del deletion not provided [RCV002796969] Chr15:45094694 [GRCh38]
Chr15:45386892 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.241C>T (p.Pro81Ser) single nucleotide variant not provided [RCV003080467] Chr15:45112638 [GRCh38]
Chr15:45404836 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4158C>T (p.Gly1386=) single nucleotide variant not provided [RCV002867988] Chr15:45095518 [GRCh38]
Chr15:45387716 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1738C>T (p.Pro580Ser) single nucleotide variant Inborn genetic diseases [RCV002977762] Chr15:45106925 [GRCh38]
Chr15:45399123 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1880A>G (p.His627Arg) single nucleotide variant not provided [RCV002979456] Chr15:45106593 [GRCh38]
Chr15:45398791 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.70+23G>T single nucleotide variant not provided [RCV002847576] Chr15:45113319 [GRCh38]
Chr15:45405517 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3317T>C (p.Ile1106Thr) single nucleotide variant not provided [RCV003035413] Chr15:45099760 [GRCh38]
Chr15:45391958 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3367G>T (p.Ala1123Ser) single nucleotide variant not provided [RCV003077299] Chr15:45099710 [GRCh38]
Chr15:45391908 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.426C>T (p.Pro142=) single nucleotide variant not provided [RCV002846427] Chr15:45111855 [GRCh38]
Chr15:45404053 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3510T>C (p.Asn1170=) single nucleotide variant not provided [RCV002705287] Chr15:45099388 [GRCh38]
Chr15:45391586 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3105G>A (p.Val1035=) single nucleotide variant not provided [RCV002867097] Chr15:45100129 [GRCh38]
Chr15:45392327 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4271G>A (p.Arg1424His) single nucleotide variant Inborn genetic diseases [RCV002759382] Chr15:45095060 [GRCh38]
Chr15:45387258 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2000T>C (p.Leu667Pro) single nucleotide variant not provided [RCV003038722] Chr15:45106273 [GRCh38]
Chr15:45398471 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1012A>G (p.Thr338Ala) single nucleotide variant not provided [RCV002619997] Chr15:45110456 [GRCh38]
Chr15:45402654 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.302G>T (p.Arg101Leu) single nucleotide variant not provided [RCV003079190] Chr15:45112577 [GRCh38]
Chr15:45404775 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1040+5G>A single nucleotide variant not provided [RCV003038194] Chr15:45110423 [GRCh38]
Chr15:45402621 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1247del (p.Gly416fs) deletion not provided [RCV002780727] Chr15:45108940 [GRCh38]
Chr15:45401138 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3180T>C (p.Ala1060=) single nucleotide variant not provided [RCV002637805] Chr15:45100054 [GRCh38]
Chr15:45392252 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2852-18T>A single nucleotide variant not provided [RCV002847019] Chr15:45101292 [GRCh38]
Chr15:45393490 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1946C>T (p.Ala649Val) single nucleotide variant not provided [RCV002639002] Chr15:45106327 [GRCh38]
Chr15:45398525 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1686G>C (p.Trp562Cys) single nucleotide variant not provided [RCV002999754] Chr15:45107352 [GRCh38]
Chr15:45399550 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1439C>G (p.Ser480Cys) single nucleotide variant Inborn genetic diseases [RCV002886806] Chr15:45108182 [GRCh38]
Chr15:45400380 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.239A>G (p.Asn80Ser) single nucleotide variant not provided [RCV002706125] Chr15:45112640 [GRCh38]
Chr15:45404838 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.16_19dup (p.Glu7fs) duplication not provided [RCV003054423] Chr15:45113392..45113393 [GRCh38]
Chr15:45405590..45405591 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1525G>T (p.Val509Leu) single nucleotide variant not provided [RCV002622284] Chr15:45108096 [GRCh38]
Chr15:45400294 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2401G>A (p.Ala801Thr) single nucleotide variant not provided [RCV002796716] Chr15:45104299 [GRCh38]
Chr15:45396497 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3516-9G>A single nucleotide variant not provided [RCV002828755] Chr15:45098067 [GRCh38]
Chr15:45390265 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1037T>C (p.Met346Thr) single nucleotide variant not provided [RCV002576422] Chr15:45110431 [GRCh38]
Chr15:45402629 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.189C>T (p.Ala63=) single nucleotide variant not provided [RCV002626641] Chr15:45112690 [GRCh38]
Chr15:45404888 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1502G>A (p.Ser501Asn) single nucleotide variant not provided [RCV002575902] Chr15:45108119 [GRCh38]
Chr15:45400317 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2922-20G>T single nucleotide variant not provided [RCV002853020] Chr15:45100858 [GRCh38]
Chr15:45393056 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1131+20C>T single nucleotide variant not provided [RCV003059325] Chr15:45109870 [GRCh38]
Chr15:45402068 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.944-2A>T single nucleotide variant not provided [RCV003043575] Chr15:45110526 [GRCh38]
Chr15:45402724 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.4024C>T (p.Arg1342Cys) single nucleotide variant not provided [RCV002933316] Chr15:45095884 [GRCh38]
Chr15:45388082 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.325+16del deletion not provided [RCV003059462] Chr15:45112538 [GRCh38]
Chr15:45404736 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.3847+11C>T single nucleotide variant not provided [RCV002958944] Chr15:45097227 [GRCh38]
Chr15:45389425 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1945+19G>C single nucleotide variant not provided [RCV002958946] Chr15:45106509 [GRCh38]
Chr15:45398707 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3394A>C (p.Met1132Leu) single nucleotide variant not provided [RCV002701162] Chr15:45099683 [GRCh38]
Chr15:45391881 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3231C>T (p.Leu1077=) single nucleotide variant not provided [RCV002572856] Chr15:45099846 [GRCh38]
Chr15:45392044 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.259G>A (p.Ala87Thr) single nucleotide variant not provided [RCV002982578] Chr15:45112620 [GRCh38]
Chr15:45404818 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4269G>C (p.Gln1423His) single nucleotide variant not provided [RCV002741597] Chr15:45095062 [GRCh38]
Chr15:45387260 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3983C>A (p.Thr1328Lys) single nucleotide variant Inborn genetic diseases [RCV002787088] Chr15:45095925 [GRCh38]
Chr15:45388123 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2251G>A (p.Glu751Lys) single nucleotide variant not provided [RCV002624303] Chr15:45105726 [GRCh38]
Chr15:45397924 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.846C>A (p.Phe282Leu) single nucleotide variant Inborn genetic diseases [RCV002787719] Chr15:45111147 [GRCh38]
Chr15:45403345 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.933G>C (p.Pro311=) single nucleotide variant not provided [RCV003023785] Chr15:45110660 [GRCh38]
Chr15:45402858 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3267C>G (p.Ser1089Arg) single nucleotide variant not provided [RCV002740805] Chr15:45099810 [GRCh38]
Chr15:45392008 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1945+16G>T single nucleotide variant not provided [RCV003024098] Chr15:45106512 [GRCh38]
Chr15:45398710 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1646A>G (p.Asn549Ser) single nucleotide variant not provided [RCV003084749] Chr15:45107392 [GRCh38]
Chr15:45399590 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1131+5G>T single nucleotide variant not provided [RCV002623893] Chr15:45109885 [GRCh38]
Chr15:45402083 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4239+5G>A single nucleotide variant not provided [RCV002828245] Chr15:45095432 [GRCh38]
Chr15:45387630 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2457C>T (p.Pro819=) single nucleotide variant not provided [RCV002574793] Chr15:45104243 [GRCh38]
Chr15:45396441 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1232G>A (p.Arg411Lys) single nucleotide variant not provided [RCV003058462] Chr15:45109526 [GRCh38]
Chr15:45401724 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.161-12C>T single nucleotide variant not provided [RCV003042546] Chr15:45112730 [GRCh38]
Chr15:45404928 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4183A>G (p.Ile1395Val) single nucleotide variant not provided [RCV003057252] Chr15:45095493 [GRCh38]
Chr15:45387691 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.367G>A (p.Gly123Ser) single nucleotide variant not provided [RCV002982906] Chr15:45111914 [GRCh38]
Chr15:45404112 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3065G>C (p.Gly1022Ala) single nucleotide variant not provided [RCV002667822] Chr15:45100169 [GRCh38]
Chr15:45392367 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3549C>G (p.Phe1183Leu) single nucleotide variant not provided [RCV003043208] Chr15:45098025 [GRCh38]
Chr15:45390223 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1726dup (p.Thr576fs) duplication not provided [RCV002876499] Chr15:45106936..45106937 [GRCh38]
Chr15:45399134..45399135 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.136A>C (p.Arg46=) single nucleotide variant not provided [RCV002985414] Chr15:45113011 [GRCh38]
Chr15:45405209 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2115C>G (p.Thr705=) single nucleotide variant not provided [RCV002894482] Chr15:45106158 [GRCh38]
Chr15:45398356 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4638G>A (p.Glu1546=) single nucleotide variant not provided [RCV002828172] Chr15:45094159 [GRCh38]
Chr15:45386357 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1694-11C>G single nucleotide variant not provided [RCV002701220] Chr15:45106980 [GRCh38]
Chr15:45399178 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1131+18G>A single nucleotide variant not provided [RCV002594075] Chr15:45109872 [GRCh38]
Chr15:45402070 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2148+5G>C single nucleotide variant not provided [RCV002919066] Chr15:45106120 [GRCh38]
Chr15:45398318 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2298C>T (p.Arg766=) single nucleotide variant not provided [RCV002625955] Chr15:45105679 [GRCh38]
Chr15:45397877 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.623A>C (p.Asp208Ala) single nucleotide variant Inborn genetic diseases [RCV002697675] Chr15:45111476 [GRCh38]
Chr15:45403674 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4000C>T (p.Arg1334Trp) single nucleotide variant not provided [RCV003058461] Chr15:45095908 [GRCh38]
Chr15:45388106 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3916G>A (p.Ala1306Thr) single nucleotide variant Inborn genetic diseases [RCV002696886] Chr15:45095992 [GRCh38]
Chr15:45388190 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1277T>C (p.Val426Ala) single nucleotide variant not provided [RCV002932881] Chr15:45108910 [GRCh38]
Chr15:45401108 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.502C>A (p.Pro168Thr) single nucleotide variant not provided [RCV002700347] Chr15:45111779 [GRCh38]
Chr15:45403977 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs) microsatellite Thyroid dyshormonogenesis 6 [RCV003447633]|not provided [RCV002700959] Chr15:45100099..45100100 [GRCh38]
Chr15:45392297..45392298 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3036A>G (p.Thr1012=) single nucleotide variant not provided [RCV002894526] Chr15:45100198 [GRCh38]
Chr15:45392396 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.326-17G>C single nucleotide variant not provided [RCV002932813] Chr15:45111972 [GRCh38]
Chr15:45404170 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.728A>C (p.Glu243Ala) single nucleotide variant Inborn genetic diseases [RCV002709234] Chr15:45111265 [GRCh38]
Chr15:45403463 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.308T>C (p.Val103Ala) single nucleotide variant not provided [RCV002710593] Chr15:45112571 [GRCh38]
Chr15:45404769 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4396-2A>G single nucleotide variant Inborn genetic diseases [RCV002697418] Chr15:45094693 [GRCh38]
Chr15:45386891 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1536G>A (p.Arg512=) single nucleotide variant not provided [RCV002791002] Chr15:45108085 [GRCh38]
Chr15:45400283 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1214T>C (p.Ile405Thr) single nucleotide variant not provided [RCV002700522] Chr15:45109544 [GRCh38]
Chr15:45401742 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs) deletion Inborn genetic diseases [RCV002803895] Chr15:45108791..45108792 [GRCh38]
Chr15:45400989..45400990 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2260C>A (p.Leu754Ile) single nucleotide variant not provided [RCV002602544] Chr15:45105717 [GRCh38]
Chr15:45397915 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3294G>T (p.Leu1098Phe) single nucleotide variant not provided [RCV002746609] Chr15:45099783 [GRCh38]
Chr15:45391981 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2029A>G (p.Arg677Gly) single nucleotide variant not provided [RCV003048726] Chr15:45106244 [GRCh38]
Chr15:45398442 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.153T>A (p.Gly51=) single nucleotide variant not provided [RCV002922634] Chr15:45112994 [GRCh38]
Chr15:45405192 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3197C>T (p.Ala1066Val) single nucleotide variant Inborn genetic diseases [RCV002898047] Chr15:45099880 [GRCh38]
Chr15:45392078 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4352T>C (p.Val1451Ala) single nucleotide variant not provided [RCV002671936] Chr15:45094979 [GRCh38]
Chr15:45387177 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4081-12C>G single nucleotide variant not provided [RCV002581451] Chr15:45095607 [GRCh38]
Chr15:45387805 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.88dup (p.Ser30fs) duplication not provided [RCV002810788] Chr15:45113058..45113059 [GRCh38]
Chr15:45405256..45405257 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2604C>T (p.Asp868=) single nucleotide variant not provided [RCV002810859] Chr15:45104010 [GRCh38]
Chr15:45396208 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3621C>T (p.Ser1207=) single nucleotide variant not provided [RCV003092079] Chr15:45097686 [GRCh38]
Chr15:45389884 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3102C>T (p.Phe1034=) single nucleotide variant not provided [RCV002647154] Chr15:45100132 [GRCh38]
Chr15:45392330 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4141G>A (p.Val1381Met) single nucleotide variant not provided [RCV003092127] Chr15:45095535 [GRCh38]
Chr15:45387733 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3956C>T (p.Thr1319Ile) single nucleotide variant not provided [RCV002602112] Chr15:45095952 [GRCh38]
Chr15:45388150 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2732C>T (p.Ser911Leu) single nucleotide variant not provided [RCV003064253] Chr15:45101912 [GRCh38]
Chr15:45394110 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1452G>A (p.Leu484=) single nucleotide variant not provided [RCV002812137] Chr15:45108169 [GRCh38]
Chr15:45400367 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1456C>T (p.Leu486Phe) single nucleotide variant not provided [RCV003027794] Chr15:45108165 [GRCh38]
Chr15:45400363 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4318G>A (p.Asp1440Asn) single nucleotide variant not provided [RCV002598372] Chr15:45095013 [GRCh38]
Chr15:45387211 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.921G>A (p.Gln307=) single nucleotide variant not provided [RCV003030265] Chr15:45110672 [GRCh38]
Chr15:45402870 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.944-11C>T single nucleotide variant not provided [RCV002601462] Chr15:45110535 [GRCh38]
Chr15:45402733 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.311T>C (p.Leu104Pro) single nucleotide variant not provided [RCV002645922] Chr15:45112568 [GRCh38]
Chr15:45404766 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1855G>T (p.Val619Leu) single nucleotide variant not provided [RCV002670999] Chr15:45106618 [GRCh38]
Chr15:45398816 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3438A>G (p.Ala1146=) single nucleotide variant not provided [RCV002671678] Chr15:45099460 [GRCh38]
Chr15:45391658 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3616G>A (p.Ala1206Thr) single nucleotide variant not provided [RCV003064252] Chr15:45097691 [GRCh38]
Chr15:45389889 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3005+1G>T single nucleotide variant not provided [RCV002579079] Chr15:45100754 [GRCh38]
Chr15:45392952 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.4239+3G>T single nucleotide variant DUOX2-related condition [RCV003971326]|not provided [RCV002578334] Chr15:45095434 [GRCh38]
Chr15:45387632 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.4596C>T (p.Leu1532=) single nucleotide variant not provided [RCV002597721] Chr15:45094201 [GRCh38]
Chr15:45386399 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3030G>A (p.Leu1010=) single nucleotide variant not provided [RCV002856204] Chr15:45100204 [GRCh38]
Chr15:45392402 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.71-7C>T single nucleotide variant not provided [RCV002578625] Chr15:45113083 [GRCh38]
Chr15:45405281 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1574G>C (p.Gly525Ala) single nucleotide variant not provided [RCV002899603] Chr15:45108047 [GRCh38]
Chr15:45400245 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2654+15T>C single nucleotide variant not provided [RCV003044071] Chr15:45103945 [GRCh38]
Chr15:45396143 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3382C>A (p.Arg1128Ser) single nucleotide variant not provided [RCV002598275] Chr15:45099695 [GRCh38]
Chr15:45391893 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2351A>G (p.Gln784Arg) single nucleotide variant not provided [RCV002600296] Chr15:45104349 [GRCh38]
Chr15:45396547 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3847+10C>T single nucleotide variant not provided [RCV002576908] Chr15:45097228 [GRCh38]
Chr15:45389426 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3352G>A (p.Val1118Met) single nucleotide variant not provided [RCV002717131] Chr15:45099725 [GRCh38]
Chr15:45391923 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2431T>C (p.Phe811Leu) single nucleotide variant not provided [RCV003026283] Chr15:45104269 [GRCh38]
Chr15:45396467 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2839G>A (p.Gly947Arg) single nucleotide variant not provided [RCV002833662] Chr15:45101805 [GRCh38]
Chr15:45394003 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.944-16C>T single nucleotide variant not provided [RCV002627457] Chr15:45110540 [GRCh38]
Chr15:45402738 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4097C>T (p.Pro1366Leu) single nucleotide variant Inborn genetic diseases [RCV002628686]|Thyroid dyshormonogenesis 6 [RCV003147831]|not provided [RCV002628687] Chr15:45095579 [GRCh38]
Chr15:45387777 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.160+15C>G single nucleotide variant not provided [RCV002715923] Chr15:45112972 [GRCh38]
Chr15:45405170 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4445C>T (p.Thr1482Met) single nucleotide variant not provided [RCV002988615] Chr15:45094642 [GRCh38]
Chr15:45386840 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2906_2911del (p.Arg969_Thr970del) deletion not provided [RCV003063737] Chr15:45101215..45101220 [GRCh38]
Chr15:45393413..45393418 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4210T>A (p.Ser1404Thr) single nucleotide variant not provided [RCV002629782] Chr15:45095466 [GRCh38]
Chr15:45387664 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3006-4A>G single nucleotide variant not provided [RCV002988698] Chr15:45100232 [GRCh38]
Chr15:45392430 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2437G>A (p.Glu813Lys) single nucleotide variant not provided [RCV003091186] Chr15:45104263 [GRCh38]
Chr15:45396461 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3911G>A (p.Arg1304Gln) single nucleotide variant not provided [RCV002806071] Chr15:45095997 [GRCh38]
Chr15:45388195 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2681G>A (p.Cys894Tyr) single nucleotide variant not provided [RCV002631522] Chr15:45101963 [GRCh38]
Chr15:45394161 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3693+5G>C single nucleotide variant Inborn genetic diseases [RCV002612173]|not provided [RCV002628007] Chr15:45097609 [GRCh38]
Chr15:45389807 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2945C>T (p.Pro982Leu) single nucleotide variant not provided [RCV002937711] Chr15:45100815 [GRCh38]
Chr15:45393013 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1131G>A (p.Glu377=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003340506]|not provided [RCV002579805] Chr15:45109890 [GRCh38]
Chr15:45402088 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.160+16C>T single nucleotide variant not provided [RCV002600891] Chr15:45112971 [GRCh38]
Chr15:45405169 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3415+11C>T single nucleotide variant not provided [RCV002833850] Chr15:45099651 [GRCh38]
Chr15:45391849 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4330C>G (p.Leu1444Val) single nucleotide variant not provided [RCV002834670] Chr15:45095001 [GRCh38]
Chr15:45387199 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.944-13C>G single nucleotide variant not provided [RCV002580890] Chr15:45110537 [GRCh38]
Chr15:45402735 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.70+21G>T single nucleotide variant not provided [RCV003047895] Chr15:45113321 [GRCh38]
Chr15:45405519 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.944-19C>G single nucleotide variant not provided [RCV002717132] Chr15:45110543 [GRCh38]
Chr15:45402741 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1132-6T>C single nucleotide variant not provided [RCV002598328] Chr15:45109632 [GRCh38]
Chr15:45401830 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4080+15G>A single nucleotide variant not provided [RCV002631126] Chr15:45095813 [GRCh38]
Chr15:45388011 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1562A>G (p.Asn521Ser) single nucleotide variant not provided [RCV002675534] Chr15:45108059 [GRCh38]
Chr15:45400257 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4404C>T (p.Cys1468=) single nucleotide variant not provided [RCV002670865] Chr15:45094683 [GRCh38]
Chr15:45386881 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3639C>T (p.Arg1213=) single nucleotide variant not provided [RCV002833053] Chr15:45097668 [GRCh38]
Chr15:45389866 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1097C>T (p.Ala366Val) single nucleotide variant not provided [RCV002577967] Chr15:45109924 [GRCh38]
Chr15:45402122 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1294C>T (p.Arg432Cys) single nucleotide variant not provided [RCV003061610] Chr15:45108893 [GRCh38]
Chr15:45401091 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.343G>T (p.Asp115Tyr) single nucleotide variant not provided [RCV002966950] Chr15:45111938 [GRCh38]
Chr15:45404136 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4239+17C>G single nucleotide variant not provided [RCV002811610] Chr15:45095420 [GRCh38]
Chr15:45387618 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.903G>T (p.Trp301Cys) single nucleotide variant not provided [RCV003064254] Chr15:45110690 [GRCh38]
Chr15:45402888 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3185-16C>T single nucleotide variant not provided [RCV002877034] Chr15:45099908 [GRCh38]
Chr15:45392106 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.393C>T (p.Ile131=) single nucleotide variant not provided [RCV002627579] Chr15:45111888 [GRCh38]
Chr15:45404086 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4543T>C (p.Phe1515Leu) single nucleotide variant Inborn genetic diseases [RCV002770686]|not provided [RCV002770687] Chr15:45094254 [GRCh38]
Chr15:45386452 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3286T>C (p.Tyr1096His) single nucleotide variant not provided [RCV003048735] Chr15:45099791 [GRCh38]
Chr15:45391989 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2944_2945delinsGT (p.Pro982Val) indel not provided [RCV002721004] Chr15:45100815..45100816 [GRCh38]
Chr15:45393013..45393014 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2938C>A (p.Leu980Met) single nucleotide variant Inborn genetic diseases [RCV002747677] Chr15:45100822 [GRCh38]
Chr15:45393020 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1973G>A (p.Arg658Lys) single nucleotide variant not provided [RCV003028288] Chr15:45106300 [GRCh38]
Chr15:45398498 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2786G>A (p.Arg929Gln) single nucleotide variant not provided [RCV002631955] Chr15:45101858 [GRCh38]
Chr15:45394056 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1251T>C (p.Pro417=) single nucleotide variant not provided [RCV002720834] Chr15:45108936 [GRCh38]
Chr15:45401134 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2071C>T (p.Gln691Ter) single nucleotide variant not provided [RCV002857397] Chr15:45106202 [GRCh38]
Chr15:45398400 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4251C>T (p.Ile1417=) single nucleotide variant not provided [RCV002716276] Chr15:45095080 [GRCh38]
Chr15:45387278 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3783G>C (p.Lys1261Asn) single nucleotide variant not provided [RCV002716280] Chr15:45097302 [GRCh38]
Chr15:45389500 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4628A>G (p.His1543Arg) single nucleotide variant not provided [RCV003026648] Chr15:45094169 [GRCh38]
Chr15:45386367 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3516-19A>G single nucleotide variant not provided [RCV002598272] Chr15:45098077 [GRCh38]
Chr15:45390275 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2296C>T (p.Arg766Cys) single nucleotide variant not provided [RCV002579333] Chr15:45105681 [GRCh38]
Chr15:45397879 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.975C>G (p.Ser325=) single nucleotide variant not provided [RCV003030984] Chr15:45110493 [GRCh38]
Chr15:45402691 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1264C>G (p.Arg422Gly) single nucleotide variant not provided [RCV002832998] Chr15:45108923 [GRCh38]
Chr15:45401121 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1624G>A (p.Asp542Asn) single nucleotide variant not provided [RCV002988637] Chr15:45107414 [GRCh38]
Chr15:45399612 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.156T>C (p.Ala52=) single nucleotide variant not provided [RCV002812045] Chr15:45112991 [GRCh38]
Chr15:45405189 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2728G>T (p.Glu910Ter) single nucleotide variant not provided [RCV003009554] Chr15:45101916 [GRCh38]
Chr15:45394114 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4395+10G>T single nucleotide variant not provided [RCV002604806] Chr15:45094926 [GRCh38]
Chr15:45387124 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.325+19A>G single nucleotide variant not provided [RCV002680943] Chr15:45112535 [GRCh38]
Chr15:45404733 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3468A>G (p.Pro1156=) single nucleotide variant not provided [RCV002633213] Chr15:45099430 [GRCh38]
Chr15:45391628 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1744T>C (p.Cys582Arg) single nucleotide variant not provided [RCV002605258] Chr15:45106919 [GRCh38]
Chr15:45399117 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.378C>T (p.Ala126=) single nucleotide variant not provided [RCV002633225] Chr15:45111903 [GRCh38]
Chr15:45404101 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.989T>A (p.Val330Glu) single nucleotide variant not provided [RCV002725939] Chr15:45110479 [GRCh38]
Chr15:45402677 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1545C>T (p.Asp515=) single nucleotide variant not provided [RCV002654051] Chr15:45108076 [GRCh38]
Chr15:45400274 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2149-17G>A single nucleotide variant not provided [RCV002604613] Chr15:45105845 [GRCh38]
Chr15:45398043 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4078A>C (p.Lys1360Gln) single nucleotide variant not provided [RCV002725476] Chr15:45095830 [GRCh38]
Chr15:45388028 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1912G>A (p.Val638Met) single nucleotide variant Inborn genetic diseases [RCV003250523]|not provided [RCV002583715] Chr15:45106561 [GRCh38]
Chr15:45398759 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2894C>T (p.Ser965Leu) single nucleotide variant DUOX2-related condition [RCV003418662]|not provided [RCV002942608] Chr15:45101232 [GRCh38]
Chr15:45393430 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2354C>T (p.Ala785Val) single nucleotide variant not provided [RCV002725482] Chr15:45104346 [GRCh38]
Chr15:45396544 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4025G>A (p.Arg1342His) single nucleotide variant not provided [RCV003067363] Chr15:45095883 [GRCh38]
Chr15:45388081 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.307G>A (p.Val103Ile) single nucleotide variant Inborn genetic diseases [RCV003167498]|not provided [RCV002604785] Chr15:45112572 [GRCh38]
Chr15:45404770 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2921+12T>C single nucleotide variant not provided [RCV002680968] Chr15:45101193 [GRCh38]
Chr15:45393391 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.295C>T (p.His99Tyr) single nucleotide variant not provided [RCV002635876] Chr15:45112584 [GRCh38]
Chr15:45404782 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4246T>C (p.Phe1416Leu) single nucleotide variant not provided [RCV002942996] Chr15:45095085 [GRCh38]
Chr15:45387283 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1627G>T (p.Val543Leu) single nucleotide variant not provided [RCV002609725] Chr15:45107411 [GRCh38]
Chr15:45399609 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3897A>G (p.Ser1299=) single nucleotide variant not provided [RCV002634789] Chr15:45096011 [GRCh38]
Chr15:45388209 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3059A>G (p.Gln1020Arg) single nucleotide variant not provided [RCV002607700] Chr15:45100175 [GRCh38]
Chr15:45392373 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2048G>A (p.Arg683His) single nucleotide variant not provided [RCV002606801] Chr15:45106225 [GRCh38]
Chr15:45398423 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3881G>C (p.Gly1294Ala) single nucleotide variant Inborn genetic diseases [RCV002589943]|not provided [RCV002589942] Chr15:45096027 [GRCh38]
Chr15:45388225 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4152del (p.Gly1386fs) deletion not provided [RCV002587160] Chr15:45095524 [GRCh38]
Chr15:45387722 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2960C>A (p.Ala987Asp) single nucleotide variant not provided [RCV002635780] Chr15:45100800 [GRCh38]
Chr15:45392998 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3301A>G (p.Met1101Val) single nucleotide variant not provided [RCV002587361] Chr15:45099776 [GRCh38]
Chr15:45391974 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.956T>C (p.Phe319Ser) single nucleotide variant not provided [RCV002635124] Chr15:45110512 [GRCh38]
Chr15:45402710 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.256A>C (p.Asn86His) single nucleotide variant Inborn genetic diseases [RCV002613115]|not provided [RCV002613114] Chr15:45112623 [GRCh38]
Chr15:45404821 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.166C>G (p.Arg56Gly) single nucleotide variant Inborn genetic diseases [RCV002588619]|not provided [RCV002588620] Chr15:45112713 [GRCh38]
Chr15:45404911 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.944-1G>A single nucleotide variant not provided [RCV002654273] Chr15:45110525 [GRCh38]
Chr15:45402723 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2412C>A (p.Cys804Ter) single nucleotide variant not provided [RCV002588694] Chr15:45104288 [GRCh38]
Chr15:45396486 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2852-4C>G single nucleotide variant not provided [RCV002589022] Chr15:45101278 [GRCh38]
Chr15:45393476 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1398+11G>T single nucleotide variant not provided [RCV002589081] Chr15:45108778 [GRCh38]
Chr15:45400976 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.932C>T (p.Pro311Leu) single nucleotide variant not provided [RCV002607832] Chr15:45110661 [GRCh38]
Chr15:45402859 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2711T>C (p.Val904Ala) single nucleotide variant not provided [RCV002607844] Chr15:45101933 [GRCh38]
Chr15:45394131 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4156G>A (p.Gly1386Ser) single nucleotide variant not provided [RCV002589133] Chr15:45095520 [GRCh38]
Chr15:45387718 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2524C>A (p.Arg842=) single nucleotide variant not provided [RCV002611622] Chr15:45104176 [GRCh38]
Chr15:45396374 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1151C>T (p.Thr384Ile) single nucleotide variant not provided [RCV002604868] Chr15:45109607 [GRCh38]
Chr15:45401805 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.503C>G (p.Pro168Arg) single nucleotide variant not provided [RCV002603825] Chr15:45111778 [GRCh38]
Chr15:45403976 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2154G>A (p.Leu718=) single nucleotide variant not provided [RCV002681037] Chr15:45105823 [GRCh38]
Chr15:45398021 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3769T>A (p.Tyr1257Asn) single nucleotide variant Inborn genetic diseases [RCV002608454]|not provided [RCV002608453] Chr15:45097316 [GRCh38]
Chr15:45389514 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1831+17C>A single nucleotide variant not provided [RCV002721438] Chr15:45106815 [GRCh38]
Chr15:45399013 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1636G>T (p.Ala546Ser) single nucleotide variant Inborn genetic diseases [RCV002652763] Chr15:45107402 [GRCh38]
Chr15:45399600 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1860C>T (p.Ala620=) single nucleotide variant not provided [RCV002590093] Chr15:45106613 [GRCh38]
Chr15:45398811 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3240C>T (p.Ile1080=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003146875]|not provided [RCV003708732] Chr15:45099837 [GRCh38]
Chr15:45392035 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.2579C>A (p.Ser860Tyr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003146877] Chr15:45104035 [GRCh38]
Chr15:45396233 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.540C>A (p.Asp180Glu) single nucleotide variant Inborn genetic diseases [RCV003184108] Chr15:45111559 [GRCh38]
Chr15:45403757 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2408C>T (p.Thr803Ile) single nucleotide variant not provided [RCV003227335] Chr15:45104292 [GRCh38]
Chr15:45396490 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh38/hg38 15q21.1(chr15:45092835-45433283) copy number gain Anomalous pulmonary venous return [RCV003223576] Chr15:45092835..45433283 [GRCh38]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.175C>G (p.Arg59Gly) single nucleotide variant Inborn genetic diseases [RCV003197464] Chr15:45112704 [GRCh38]
Chr15:45404902 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4060G>A (p.Gly1354Ser) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003146876] Chr15:45095848 [GRCh38]
Chr15:45388046 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4326G>A (p.Gln1442=) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003146878]|not provided [RCV003730409] Chr15:45095005 [GRCh38]
Chr15:45387203 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
NM_001363711.2(DUOX2):c.4558C>T (p.Pro1520Ser) single nucleotide variant Inborn genetic diseases [RCV003215939] Chr15:45094239 [GRCh38]
Chr15:45386437 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.992C>T (p.Ala331Val) single nucleotide variant not provided [RCV003319703] Chr15:45110476 [GRCh38]
Chr15:45402674 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_207581.4(DUOXA2):c.149G>A (p.Arg50His) single nucleotide variant not specified [RCV003324170] Chr15:45115800 [GRCh38]
Chr15:45407998 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1111A>C (p.Asn371His) single nucleotide variant not provided [RCV003318864] Chr15:45109910 [GRCh38]
Chr15:45402108 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.635C>G (p.Pro212Arg) single nucleotide variant not provided [RCV003318837] Chr15:45111464 [GRCh38]
Chr15:45403662 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3474C>G (p.Ser1158Arg) single nucleotide variant Inborn genetic diseases [RCV003286866] Chr15:45099424 [GRCh38]
Chr15:45391622 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4080+5C>G single nucleotide variant not provided [RCV003318802] Chr15:45095823 [GRCh38]
Chr15:45388021 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003331938]|not provided [RCV003561307] Chr15:45104272 [GRCh38]
Chr15:45396470 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.214G>T (p.Ala72Ser) single nucleotide variant not specified [RCV003331985] Chr15:45112665 [GRCh38]
Chr15:45404863 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2783T>C (p.Leu928Pro) single nucleotide variant Inborn genetic diseases [RCV003383363] Chr15:45101861 [GRCh38]
Chr15:45394059 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.470G>T (p.Trp157Leu) single nucleotide variant Inborn genetic diseases [RCV003348408] Chr15:45111811 [GRCh38]
Chr15:45404009 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.476C>T (p.Pro159Leu) single nucleotide variant Inborn genetic diseases [RCV003348409] Chr15:45111805 [GRCh38]
Chr15:45404003 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter) single nucleotide variant DUOX2-related condition [RCV003394351]|not provided [RCV003553931] Chr15:45100158 [GRCh38]
Chr15:45392356 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.3598G>T (p.Ala1200Ser) single nucleotide variant Inborn genetic diseases [RCV003364790] Chr15:45097709 [GRCh38]
Chr15:45389907 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.896A>G (p.Tyr299Cys) single nucleotide variant Inborn genetic diseases [RCV003371968] Chr15:45110697 [GRCh38]
Chr15:45402895 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2112C>T (p.Arg704=) single nucleotide variant not provided [RCV003571813] Chr15:45106161 [GRCh38]
Chr15:45398359 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1831+10T>G single nucleotide variant not provided [RCV003875792] Chr15:45106822 [GRCh38]
Chr15:45399020 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2397G>A (p.Arg799=) single nucleotide variant not provided [RCV003543183] Chr15:45104303 [GRCh38]
Chr15:45396501 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4134G>A (p.Glu1378=) single nucleotide variant not provided [RCV003686298] Chr15:45095542 [GRCh38]
Chr15:45387740 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4239+8T>C single nucleotide variant not provided [RCV003569717] Chr15:45095429 [GRCh38]
Chr15:45387627 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1862A>G (p.Tyr621Cys) single nucleotide variant not provided [RCV003569887] Chr15:45106611 [GRCh38]
Chr15:45398809 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1694-9C>G single nucleotide variant not provided [RCV003686360] Chr15:45106978 [GRCh38]
Chr15:45399176 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2637A>G (p.Glu879=) single nucleotide variant not provided [RCV003875284] Chr15:45103977 [GRCh38]
Chr15:45396175 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3679C>T (p.Leu1227=) single nucleotide variant not provided [RCV003571542] Chr15:45097628 [GRCh38]
Chr15:45389826 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4022del (p.Thr1341fs) deletion not provided [RCV003570002] Chr15:45095886 [GRCh38]
Chr15:45388084 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.161-1G>T single nucleotide variant not provided [RCV003570012] Chr15:45112719 [GRCh38]
Chr15:45404917 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2561-2A>G single nucleotide variant not provided [RCV003570790] Chr15:45104055 [GRCh38]
Chr15:45396253 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.1041-8A>G single nucleotide variant not provided [RCV003571570] Chr15:45109988 [GRCh38]
Chr15:45402186 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2608G>C (p.Asp870His) single nucleotide variant not provided [RCV003570169] Chr15:45104006 [GRCh38]
Chr15:45396204 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2334+16C>T single nucleotide variant not provided [RCV003570913] Chr15:45105627 [GRCh38]
Chr15:45397825 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4240A>T (p.Ile1414Phe) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003447804] Chr15:45095091 [GRCh38]
Chr15:45387289 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003486077]|not provided [RCV003779242] Chr15:45106955 [GRCh38]
Chr15:45399153 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4446G>T (p.Thr1482=) single nucleotide variant not provided [RCV003686351] Chr15:45094641 [GRCh38]
Chr15:45386839 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.438_439dup (p.Asp147fs) duplication not provided [RCV003570353] Chr15:45111841..45111842 [GRCh38]
Chr15:45404039..45404040 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3228C>A (p.Thr1076=) single nucleotide variant not provided [RCV003570719] Chr15:45099849 [GRCh38]
Chr15:45392047 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3691C>T (p.Leu1231=) single nucleotide variant not provided [RCV003874536] Chr15:45097616 [GRCh38]
Chr15:45389814 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.42T>A (p.Ala14=) single nucleotide variant not provided [RCV003571318] Chr15:45113370 [GRCh38]
Chr15:45405568 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4524+11del deletion not provided [RCV003571888] Chr15:45094552 [GRCh38]
Chr15:45386750 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1686G>A (p.Trp562Ter) single nucleotide variant not provided [RCV003569330] Chr15:45107352 [GRCh38]
Chr15:45399550 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.325+12G>T single nucleotide variant not provided [RCV003543339] Chr15:45112542 [GRCh38]
Chr15:45404740 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1946-18C>T single nucleotide variant not provided [RCV003543635] Chr15:45106345 [GRCh38]
Chr15:45398543 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3847+13G>A single nucleotide variant not provided [RCV003872825] Chr15:45097225 [GRCh38]
Chr15:45389423 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.945A>T (p.Gly315=) single nucleotide variant not provided [RCV003571301] Chr15:45110523 [GRCh38]
Chr15:45402721 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.21G>A (p.Glu7=) single nucleotide variant not provided [RCV003686253] Chr15:45113391 [GRCh38]
Chr15:45405589 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1831+7T>C single nucleotide variant not provided [RCV003691402] Chr15:45106825 [GRCh38]
Chr15:45399023 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3787G>A (p.Val1263Met) single nucleotide variant not provided [RCV003443754] Chr15:45097298 [GRCh38]
Chr15:45389496 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2852-18del deletion not provided [RCV003569023] Chr15:45101292 [GRCh38]
Chr15:45393490 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003447807] Chr15:45113020 [GRCh38]
Chr15:45405218 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.871G>A (p.Ala291Thr) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003447691] Chr15:45111122 [GRCh38]
Chr15:45403320 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1587G>T (p.Lys529Asn) single nucleotide variant not specified [RCV003405054] Chr15:45107451 [GRCh38]
Chr15:45399649 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.715G>C (p.Ala239Pro) single nucleotide variant DUOX2-related condition [RCV003405782] Chr15:45111384 [GRCh38]
Chr15:45403582 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.367G>C (p.Gly123Arg) single nucleotide variant not provided [RCV003442669] Chr15:45111914 [GRCh38]
Chr15:45404112 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003388745]|not provided [RCV003708786] Chr15:45111824 [GRCh38]
Chr15:45404022 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.70+24G>A single nucleotide variant not provided [RCV003825208] Chr15:45113318 [GRCh38]
Chr15:45405516 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2109C>A (p.Cys703Ter) single nucleotide variant not provided [RCV003690657] Chr15:45106164 [GRCh38]
Chr15:45398362 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1040+1G>T single nucleotide variant DUOX2-related condition [RCV003402162] Chr15:45110427 [GRCh38]
Chr15:45402625 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3721A>T (p.Ile1241Phe) single nucleotide variant not specified [RCV003388401] Chr15:45097364 [GRCh38]
Chr15:45389562 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3521A>G (p.Lys1174Arg) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003389365] Chr15:45098053 [GRCh38]
Chr15:45390251 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4088T>C (p.Leu1363Pro) single nucleotide variant not provided [RCV003442423] Chr15:45095588 [GRCh38]
Chr15:45387786 [GRCh37]
Chr15:15q21.1		 uncertain significance
Single allele deletion not provided [RCV003448697] Chr15:41321409..51718601 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
NM_001363711.2(DUOX2):c.-14-5C>A single nucleotide variant not provided [RCV003390481] Chr15:45113430 [GRCh38]
Chr15:45405628 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2794_2796delinsAAT (p.Asp932Asn) indel DUOX2-related condition [RCV003404478] Chr15:45101848..45101850 [GRCh38]
Chr15:45394046..45394048 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2654+14C>T single nucleotide variant not provided [RCV003831678] Chr15:45103946 [GRCh38]
Chr15:45396144 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3694-13G>T single nucleotide variant not provided [RCV003694045] Chr15:45097404 [GRCh38]
Chr15:45389602 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1485C>T (p.Asp495=) single nucleotide variant not provided [RCV003694036] Chr15:45108136 [GRCh38]
Chr15:45400334 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.145G>T (p.Glu49Ter) single nucleotide variant not provided [RCV003694275] Chr15:45113002 [GRCh38]
Chr15:45405200 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2922-3C>T single nucleotide variant not provided [RCV003696585] Chr15:45100841 [GRCh38]
Chr15:45393039 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1946-7T>C single nucleotide variant not provided [RCV003713074] Chr15:45106334 [GRCh38]
Chr15:45398532 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1635C>T (p.Val545=) single nucleotide variant not provided [RCV003830321] Chr15:45107403 [GRCh38]
Chr15:45399601 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4569C>T (p.Thr1523=) single nucleotide variant not provided [RCV003660085] Chr15:45094228 [GRCh38]
Chr15:45386426 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1399-3del deletion not provided [RCV003827096] Chr15:45108225 [GRCh38]
Chr15:45400423 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1362G>A (p.Arg454=) single nucleotide variant not provided [RCV003696407] Chr15:45108825 [GRCh38]
Chr15:45401023 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4461C>T (p.Ile1487=) single nucleotide variant not provided [RCV003694430] Chr15:45094626 [GRCh38]
Chr15:45386824 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.943G>T (p.Gly315Ter) single nucleotide variant not provided [RCV003740026] Chr15:45110650 [GRCh38]
Chr15:45402848 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3454T>C (p.Phe1152Leu) single nucleotide variant not provided [RCV003696522] Chr15:45099444 [GRCh38]
Chr15:45391642 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3847+11del deletion not provided [RCV003576230] Chr15:45097227 [GRCh38]
Chr15:45389425 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3848-7C>T single nucleotide variant not provided [RCV003688774] Chr15:45096067 [GRCh38]
Chr15:45388265 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2213_2214del (p.Val738fs) deletion not provided [RCV003692338] Chr15:45105763..45105764 [GRCh38]
Chr15:45397961..45397962 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3288T>C (p.Tyr1096=) single nucleotide variant DUOX2-related condition [RCV003966715]|not provided [RCV003848908] Chr15:45099789 [GRCh38]
Chr15:45391987 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3090G>A (p.Gln1030=) single nucleotide variant not provided [RCV003691368] Chr15:45100144 [GRCh38]
Chr15:45392342 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3313C>T (p.Leu1105Phe) single nucleotide variant not provided [RCV003881796] Chr15:45099764 [GRCh38]
Chr15:45391962 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2769T>A (p.Asp923Glu) single nucleotide variant not provided [RCV003692436] Chr15:45101875 [GRCh38]
Chr15:45394073 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4625T>C (p.Met1542Thr) single nucleotide variant not provided [RCV003693538] Chr15:45094172 [GRCh38]
Chr15:45386370 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4092T>C (p.Asp1364=) single nucleotide variant not provided [RCV003696478] Chr15:45095584 [GRCh38]
Chr15:45387782 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1136C>T (p.Pro379Leu) single nucleotide variant not provided [RCV003576416] Chr15:45109622 [GRCh38]
Chr15:45401820 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2335-6G>T single nucleotide variant not provided [RCV003578758] Chr15:45104371 [GRCh38]
Chr15:45396569 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3495C>T (p.Pro1165=) single nucleotide variant not provided [RCV003849319] Chr15:45099403 [GRCh38]
Chr15:45391601 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4398C>T (p.Tyr1466=) single nucleotide variant not provided [RCV003739787] Chr15:45094689 [GRCh38]
Chr15:45386887 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2180del (p.Gly727fs) deletion not provided [RCV003714123] Chr15:45105797 [GRCh38]
Chr15:45397995 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2515C>T (p.Leu839=) single nucleotide variant not provided [RCV003849340] Chr15:45104185 [GRCh38]
Chr15:45396383 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2335-5T>C single nucleotide variant not provided [RCV003544009] Chr15:45104370 [GRCh38]
Chr15:45396568 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3848-18C>T single nucleotide variant not provided [RCV003576798] Chr15:45096078 [GRCh38]
Chr15:45388276 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4350T>A (p.Tyr1450Ter) single nucleotide variant not provided [RCV003693003] Chr15:45094981 [GRCh38]
Chr15:45387179 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2497A>G (p.Lys833Glu) single nucleotide variant not provided [RCV003544215] Chr15:45104203 [GRCh38]
Chr15:45396401 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2837G>A (p.Gly946Asp) single nucleotide variant not provided [RCV003826623] Chr15:45101807 [GRCh38]
Chr15:45394005 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1467C>G (p.Leu489=) single nucleotide variant not provided [RCV003694179] Chr15:45108154 [GRCh38]
Chr15:45400352 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1945+9G>A single nucleotide variant not provided [RCV003687366] Chr15:45106519 [GRCh38]
Chr15:45398717 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1574+17C>A single nucleotide variant not provided [RCV003572244] Chr15:45108030 [GRCh38]
Chr15:45400228 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1831+17C>T single nucleotide variant not provided [RCV003544839] Chr15:45106815 [GRCh38]
Chr15:45399013 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.265A>T (p.Thr89Ser) single nucleotide variant not provided [RCV003572908] Chr15:45112614 [GRCh38]
Chr15:45404812 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2110C>T (p.Arg704Cys) single nucleotide variant Thyroid dyshormonogenesis 6 [RCV003486060] Chr15:45106163 [GRCh38]
Chr15:45398361 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1904A>G (p.Lys635Arg) single nucleotide variant not provided [RCV003829247] Chr15:45106569 [GRCh38]
Chr15:45398767 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2893T>C (p.Ser965Pro) single nucleotide variant not provided [RCV003660475] Chr15:45101233 [GRCh38]
Chr15:45393431 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3582T>A (p.Leu1194=) single nucleotide variant not provided [RCV003713726] Chr15:45097725 [GRCh38]
Chr15:45389923 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1946-12T>C single nucleotide variant not provided [RCV003694888] Chr15:45106339 [GRCh38]
Chr15:45398537 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3718C>T (p.Leu1240=) single nucleotide variant not provided [RCV003686830] Chr15:45097367 [GRCh38]
Chr15:45389565 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2372C>T (p.Pro791Leu) single nucleotide variant not provided [RCV003661297] Chr15:45104328 [GRCh38]
Chr15:45396526 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2152C>T (p.Leu718=) single nucleotide variant not provided [RCV003693760] Chr15:45105825 [GRCh38]
Chr15:45398023 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3333G>A (p.Glu1111=) single nucleotide variant not provided [RCV003660548] Chr15:45099744 [GRCh38]
Chr15:45391942 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1564A>T (p.Thr522Ser) single nucleotide variant not provided [RCV003544980] Chr15:45108057 [GRCh38]
Chr15:45400255 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2382C>G (p.Ser794=) single nucleotide variant not provided [RCV003689541] Chr15:45104318 [GRCh38]
Chr15:45396516 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2335-9C>G single nucleotide variant not provided [RCV003690193] Chr15:45104374 [GRCh38]
Chr15:45396572 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2376G>A (p.Leu792=) single nucleotide variant not provided [RCV003695431] Chr15:45104324 [GRCh38]
Chr15:45396522 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3694-12C>T single nucleotide variant not provided [RCV003545020] Chr15:45097403 [GRCh38]
Chr15:45389601 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3446T>C (p.Val1149Ala) single nucleotide variant not provided [RCV003547198] Chr15:45099452 [GRCh38]
Chr15:45391650 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1809T>C (p.Ile603=) single nucleotide variant not provided [RCV003575726] Chr15:45106854 [GRCh38]
Chr15:45399052 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4087C>G (p.Leu1363Val) single nucleotide variant not provided [RCV003663247] Chr15:45095589 [GRCh38]
Chr15:45387787 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.267G>A (p.Thr89=) single nucleotide variant not provided [RCV003693809] Chr15:45112612 [GRCh38]
Chr15:45404810 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.883-5del deletion not provided [RCV003545745] Chr15:45110715 [GRCh38]
Chr15:45402913 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.4238A>T (p.Lys1413Met) single nucleotide variant not provided [RCV003547234] Chr15:45095438 [GRCh38]
Chr15:45387636 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1575-4T>G single nucleotide variant not provided [RCV003578352] Chr15:45107467 [GRCh38]
Chr15:45399665 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4524+7C>T single nucleotide variant not provided [RCV003578355] Chr15:45094556 [GRCh38]
Chr15:45386754 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3693+16G>C single nucleotide variant not provided [RCV003694648] Chr15:45097598 [GRCh38]
Chr15:45389796 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.927A>C (p.Thr309=) single nucleotide variant not provided [RCV003691188] Chr15:45110666 [GRCh38]
Chr15:45402864 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1946-20C>T single nucleotide variant not provided [RCV003692707] Chr15:45106347 [GRCh38]
Chr15:45398545 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2719_2720del (p.Met907fs) deletion not provided [RCV003693877] Chr15:45101924..45101925 [GRCh38]
Chr15:45394122..45394123 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2820C>T (p.Leu940=) single nucleotide variant not provided [RCV003578370] Chr15:45101824 [GRCh38]
Chr15:45394022 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3566-19C>T single nucleotide variant not provided [RCV003689812] Chr15:45097760 [GRCh38]
Chr15:45389958 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.84del (p.Leu29fs) deletion not provided [RCV003575940] Chr15:45113063 [GRCh38]
Chr15:45405261 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4146G>A (p.Leu1382=) single nucleotide variant not provided [RCV003687104] Chr15:45095530 [GRCh38]
Chr15:45387728 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3144C>T (p.Phe1048=) single nucleotide variant not provided [RCV003714054] Chr15:45100090 [GRCh38]
Chr15:45392288 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.14G>C (p.Arg5Thr) single nucleotide variant not provided [RCV003574019] Chr15:45113398 [GRCh38]
Chr15:45405596 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1071G>A (p.Leu357=) single nucleotide variant not provided [RCV003689884] Chr15:45109950 [GRCh38]
Chr15:45402148 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3426T>C (p.Ser1142=) single nucleotide variant not provided [RCV003713287] Chr15:45099472 [GRCh38]
Chr15:45391670 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4544T>G (p.Phe1515Cys) single nucleotide variant not provided [RCV003572010] Chr15:45094253 [GRCh38]
Chr15:45386451 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2561-15C>G single nucleotide variant not provided [RCV003660255] Chr15:45104068 [GRCh38]
Chr15:45396266 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2921+101_3001del deletion not provided [RCV003572720] Chr15:45100759..45101104 [GRCh38]
Chr15:45392957..45393302 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3005+10T>A single nucleotide variant not provided [RCV003687270] Chr15:45100745 [GRCh38]
Chr15:45392943 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1041-9C>T single nucleotide variant not provided [RCV003548012] Chr15:45109989 [GRCh38]
Chr15:45402187 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.180C>A (p.Arg60=) single nucleotide variant not provided [RCV003572136] Chr15:45112699 [GRCh38]
Chr15:45404897 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2328T>C (p.Phe776=) single nucleotide variant not provided [RCV003714272] Chr15:45105649 [GRCh38]
Chr15:45397847 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2323del (p.Leu775fs) deletion not provided [RCV003688728] Chr15:45105654 [GRCh38]
Chr15:45397852 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1737G>A (p.Leu579=) single nucleotide variant not provided [RCV003687718] Chr15:45106926 [GRCh38]
Chr15:45399124 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1671C>G (p.Pro557=) single nucleotide variant not provided [RCV003689826] Chr15:45107367 [GRCh38]
Chr15:45399565 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.291G>A (p.Ser97=) single nucleotide variant not provided [RCV003879856] Chr15:45112588 [GRCh38]
Chr15:45404786 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2149-4C>G single nucleotide variant not provided [RCV003577078] Chr15:45105832 [GRCh38]
Chr15:45398030 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3428C>T (p.Ala1143Val) single nucleotide variant not provided [RCV003696302] Chr15:45099470 [GRCh38]
Chr15:45391668 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4462A>T (p.Thr1488Ser) single nucleotide variant not provided [RCV003579093] Chr15:45094625 [GRCh38]
Chr15:45386823 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4453C>T (p.Arg1485Cys) single nucleotide variant not provided [RCV003879395] Chr15:45094634 [GRCh38]
Chr15:45386832 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2157G>C (p.Leu719=) single nucleotide variant not provided [RCV003693949] Chr15:45105820 [GRCh38]
Chr15:45398018 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1806C>T (p.Ile602=) single nucleotide variant not provided [RCV003714105] Chr15:45106857 [GRCh38]
Chr15:45399055 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2929C>T (p.Pro977Ser) single nucleotide variant not provided [RCV003574087] Chr15:45100831 [GRCh38]
Chr15:45393029 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.492T>C (p.Ser164=) single nucleotide variant not provided [RCV003829380] Chr15:45111789 [GRCh38]
Chr15:45403987 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1472A>C (p.Glu491Ala) single nucleotide variant not provided [RCV003712853] Chr15:45108149 [GRCh38]
Chr15:45400347 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4329C>T (p.Asp1443=) single nucleotide variant not provided [RCV003689479] Chr15:45095002 [GRCh38]
Chr15:45387200 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1585A>T (p.Lys529Ter) single nucleotide variant not provided [RCV003694836] Chr15:45107453 [GRCh38]
Chr15:45399651 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3006-1G>A single nucleotide variant not provided [RCV003830247] Chr15:45100229 [GRCh38]
Chr15:45392427 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3101del (p.Phe1034fs) deletion not provided [RCV003572142] Chr15:45100133 [GRCh38]
Chr15:45392331 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.294C>G (p.Leu98=) single nucleotide variant not provided [RCV003544136] Chr15:45112585 [GRCh38]
Chr15:45404783 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1452G>C (p.Leu484=) single nucleotide variant not provided [RCV003572702] Chr15:45108169 [GRCh38]
Chr15:45400367 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1399-11T>C single nucleotide variant not provided [RCV003546971] Chr15:45108233 [GRCh38]
Chr15:45400431 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.70+23G>A single nucleotide variant not provided [RCV003695154] Chr15:45113319 [GRCh38]
Chr15:45405517 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.207G>A (p.Val69=) single nucleotide variant not provided [RCV003546140] Chr15:45112672 [GRCh38]
Chr15:45404870 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2560+8G>T single nucleotide variant not provided [RCV003688738] Chr15:45104132 [GRCh38]
Chr15:45396330 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2186T>C (p.Phe729Ser) single nucleotide variant not provided [RCV003546066] Chr15:45105791 [GRCh38]
Chr15:45397989 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2901C>T (p.Ile967=) single nucleotide variant not provided [RCV003576809] Chr15:45101225 [GRCh38]
Chr15:45393423 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1527A>G (p.Val509=) single nucleotide variant not provided [RCV003686849] Chr15:45108094 [GRCh38]
Chr15:45400292 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1152C>T (p.Thr384=) single nucleotide variant not provided [RCV003544733] Chr15:45109606 [GRCh38]
Chr15:45401804 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.325+15G>C single nucleotide variant not provided [RCV003661150] Chr15:45112539 [GRCh38]
Chr15:45404737 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3693+9C>A single nucleotide variant not provided [RCV003715697] Chr15:45097605 [GRCh38]
Chr15:45389803 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1797C>T (p.Ala599=) single nucleotide variant not provided [RCV003830320] Chr15:45106866 [GRCh38]
Chr15:45399064 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2055C>T (p.Val685=) single nucleotide variant not provided [RCV003692730] Chr15:45106218 [GRCh38]
Chr15:45398416 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2928C>T (p.His976=) single nucleotide variant not provided [RCV003692745] Chr15:45100832 [GRCh38]
Chr15:45393030 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3687T>C (p.Tyr1229=) single nucleotide variant not provided [RCV003687388] Chr15:45097620 [GRCh38]
Chr15:45389818 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2755C>T (p.Leu919=) single nucleotide variant not provided [RCV003576383] Chr15:45101889 [GRCh38]
Chr15:45394087 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2561-17C>T single nucleotide variant not provided [RCV003689522] Chr15:45104070 [GRCh38]
Chr15:45396268 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1399-14C>T single nucleotide variant not provided [RCV003575711] Chr15:45108236 [GRCh38]
Chr15:45400434 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2851+20T>G single nucleotide variant not provided [RCV003690155] Chr15:45101773 [GRCh38]
Chr15:45393971 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.165C>A (p.Cys55Ter) single nucleotide variant not provided [RCV003696205] Chr15:45112714 [GRCh38]
Chr15:45404912 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1040+1G>C single nucleotide variant not provided [RCV003876916] Chr15:45110427 [GRCh38]
Chr15:45402625 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.4080+15G>C single nucleotide variant not provided [RCV003573711] Chr15:45095813 [GRCh38]
Chr15:45388011 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-3dup duplication not provided [RCV003830758] Chr15:45098060..45098061 [GRCh38]
Chr15:45390258..45390259 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.1033T>C (p.Tyr345His) single nucleotide variant not provided [RCV003686564] Chr15:45110435 [GRCh38]
Chr15:45402633 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3658C>T (p.Leu1220=) single nucleotide variant not provided [RCV003715230] Chr15:45097649 [GRCh38]
Chr15:45389847 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1405G>A (p.Glu469Lys) single nucleotide variant not provided [RCV003824715] Chr15:45108216 [GRCh38]
Chr15:45400414 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2091G>A (p.Leu697=) single nucleotide variant not provided [RCV003578168] Chr15:45106182 [GRCh38]
Chr15:45398380 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4240-11T>C single nucleotide variant not provided [RCV003688329] Chr15:45095102 [GRCh38]
Chr15:45387300 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2074C>T (p.Gln692Ter) single nucleotide variant not provided [RCV003694645] Chr15:45106199 [GRCh38]
Chr15:45398397 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2208C>G (p.Phe736Leu) single nucleotide variant not provided [RCV003547806] Chr15:45105769 [GRCh38]
Chr15:45397967 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3996C>T (p.His1332=) single nucleotide variant not provided [RCV003578124] Chr15:45095912 [GRCh38]
Chr15:45388110 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4482dup (p.Phe1495fs) duplication not provided [RCV003578759] Chr15:45094604..45094605 [GRCh38]
Chr15:45386802..45386803 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.70+7A>G single nucleotide variant not provided [RCV003660685] Chr15:45113335 [GRCh38]
Chr15:45405533 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3185-10C>T single nucleotide variant not provided [RCV003713830] Chr15:45099902 [GRCh38]
Chr15:45392100 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.326-16C>T single nucleotide variant not provided [RCV003715357] Chr15:45111971 [GRCh38]
Chr15:45404169 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1693+8C>A single nucleotide variant not provided [RCV003694701] Chr15:45107337 [GRCh38]
Chr15:45399535 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3847+17G>A single nucleotide variant not provided [RCV003578507] Chr15:45097221 [GRCh38]
Chr15:45389419 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.444G>T (p.Val148=) single nucleotide variant not provided [RCV003666085] Chr15:45111837 [GRCh38]
Chr15:45404035 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.183A>G (p.Val61=) single nucleotide variant not provided [RCV003693037] Chr15:45112696 [GRCh38]
Chr15:45404894 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3444T>C (p.Asn1148=) single nucleotide variant not provided [RCV003688136] Chr15:45099454 [GRCh38]
Chr15:45391652 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4585G>A (p.Ala1529Thr) single nucleotide variant not provided [RCV003882032] Chr15:45094212 [GRCh38]
Chr15:45386410 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4446G>C (p.Thr1482=) single nucleotide variant not provided [RCV003713111] Chr15:45094641 [GRCh38]
Chr15:45386839 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1556T>C (p.Phe519Ser) single nucleotide variant not provided [RCV003686941] Chr15:45108065 [GRCh38]
Chr15:45400263 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1365C>T (p.Asn455=) single nucleotide variant not provided [RCV003686997] Chr15:45108822 [GRCh38]
Chr15:45401020 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.133C>T (p.Leu45=) single nucleotide variant not provided [RCV003690281] Chr15:45113014 [GRCh38]
Chr15:45405212 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.258C>G (p.Asn86Lys) single nucleotide variant not provided [RCV003881622] Chr15:45112621 [GRCh38]
Chr15:45404819 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2803C>T (p.Leu935Phe) single nucleotide variant not specified [RCV003490802] Chr15:45101841 [GRCh38]
Chr15:45394039 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4396-19C>T single nucleotide variant not provided [RCV003662822] Chr15:45094710 [GRCh38]
Chr15:45386908 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2265T>C (p.Phe755=) single nucleotide variant not provided [RCV003687101] Chr15:45105712 [GRCh38]
Chr15:45397910 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3354G>T (p.Val1118=) single nucleotide variant not provided [RCV003690392] Chr15:45099723 [GRCh38]
Chr15:45391921 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1575-16A>G single nucleotide variant not provided [RCV003693621] Chr15:45107479 [GRCh38]
Chr15:45399677 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1404G>A (p.Leu468=) single nucleotide variant not provided [RCV003660540] Chr15:45108217 [GRCh38]
Chr15:45400415 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4012C>A (p.Pro1338Thr) single nucleotide variant not provided [RCV003877796] Chr15:45095896 [GRCh38]
Chr15:45388094 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4300C>A (p.Gln1434Lys) single nucleotide variant not provided [RCV003692400] Chr15:45095031 [GRCh38]
Chr15:45387229 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.981A>G (p.Glu327=) single nucleotide variant not provided [RCV003880366] Chr15:45110487 [GRCh38]
Chr15:45402685 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3848-6C>T single nucleotide variant not provided [RCV003687640] Chr15:45096066 [GRCh38]
Chr15:45388264 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4512G>A (p.Glu1504=) single nucleotide variant not provided [RCV003687677] Chr15:45094575 [GRCh38]
Chr15:45386773 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2421C>G (p.Ser807Arg) single nucleotide variant not provided [RCV003713852] Chr15:45104279 [GRCh38]
Chr15:45396477 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.943+13G>A single nucleotide variant not provided [RCV003660717] Chr15:45110637 [GRCh38]
Chr15:45402835 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1356C>T (p.Ile452=) single nucleotide variant not provided [RCV003687334] Chr15:45108831 [GRCh38]
Chr15:45401029 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2368C>T (p.Leu790=) single nucleotide variant not provided [RCV003877135] Chr15:45104332 [GRCh38]
Chr15:45396530 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1399-9G>T single nucleotide variant not provided [RCV003544867] Chr15:45108231 [GRCh38]
Chr15:45400429 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2560+19G>A single nucleotide variant not provided [RCV003547399] Chr15:45104121 [GRCh38]
Chr15:45396319 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2073G>T (p.Gln691His) single nucleotide variant not provided [RCV003662119] Chr15:45106200 [GRCh38]
Chr15:45398398 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4476T>A (p.Arg1492=) single nucleotide variant not provided [RCV003661618] Chr15:45094611 [GRCh38]
Chr15:45386809 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3622C>T (p.His1208Tyr) single nucleotide variant not provided [RCV003878799] Chr15:45097685 [GRCh38]
Chr15:45389883 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.421G>A (p.Asp141Asn) single nucleotide variant not provided [RCV003662190] Chr15:45111860 [GRCh38]
Chr15:45404058 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4395+8del deletion not provided [RCV003690349] Chr15:45094928 [GRCh38]
Chr15:45387126 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1040+13T>C single nucleotide variant not provided [RCV003882163] Chr15:45110415 [GRCh38]
Chr15:45402613 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1977C>A (p.Ser659Arg) single nucleotide variant not provided [RCV003576208] Chr15:45106296 [GRCh38]
Chr15:45398494 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2334+10C>A single nucleotide variant not provided [RCV003712783] Chr15:45105633 [GRCh38]
Chr15:45397831 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3415+16G>A single nucleotide variant not provided [RCV003715577] Chr15:45099646 [GRCh38]
Chr15:45391844 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1386T>C (p.Asn462=) single nucleotide variant not provided [RCV003689320] Chr15:45108801 [GRCh38]
Chr15:45400999 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2130C>A (p.Ile710=) single nucleotide variant not provided [RCV003661747] Chr15:45106143 [GRCh38]
Chr15:45398341 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3420G>A (p.Leu1140=) single nucleotide variant not provided [RCV003573291] Chr15:45099478 [GRCh38]
Chr15:45391676 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.160+14G>T single nucleotide variant not provided [RCV003715564] Chr15:45112973 [GRCh38]
Chr15:45405171 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2142T>C (p.Tyr714=) single nucleotide variant not provided [RCV003662529] Chr15:45106131 [GRCh38]
Chr15:45398329 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2148+9C>A single nucleotide variant not provided [RCV003692181] Chr15:45106116 [GRCh38]
Chr15:45398314 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3693+12C>T single nucleotide variant not provided [RCV003575775] Chr15:45097602 [GRCh38]
Chr15:45389800 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2847A>G (p.Gly949=) single nucleotide variant not provided [RCV003881511] Chr15:45101797 [GRCh38]
Chr15:45393995 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.264C>T (p.Ala88=) single nucleotide variant not provided [RCV003545427] Chr15:45112615 [GRCh38]
Chr15:45404813 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2806C>G (p.Arg936Gly) single nucleotide variant not provided [RCV003575811] Chr15:45101838 [GRCh38]
Chr15:45394036 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3666C>T (p.His1222=) single nucleotide variant not provided [RCV003688202] Chr15:45097641 [GRCh38]
Chr15:45389839 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4356C>A (p.Thr1452=) single nucleotide variant not provided [RCV003664197] Chr15:45094975 [GRCh38]
Chr15:45387173 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.161-5C>G single nucleotide variant not provided [RCV003836101] Chr15:45112723 [GRCh38]
Chr15:45404921 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3920_3927del (p.Cys1307fs) deletion not provided [RCV003697707] Chr15:45095981..45095988 [GRCh38]
Chr15:45388179..45388186 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1654C>T (p.Pro552Ser) single nucleotide variant not provided [RCV003852329] Chr15:45107384 [GRCh38]
Chr15:45399582 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3106G>A (p.Glu1036Lys) single nucleotide variant not provided [RCV003832945] Chr15:45100128 [GRCh38]
Chr15:45392326 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2130C>T (p.Ile710=) single nucleotide variant not provided [RCV003548920] Chr15:45106143 [GRCh38]
Chr15:45398341 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.467G>T (p.Arg156Leu) single nucleotide variant not provided [RCV003718005] Chr15:45111814 [GRCh38]
Chr15:45404012 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.943+12G>C single nucleotide variant not provided [RCV003696762] Chr15:45110638 [GRCh38]
Chr15:45402836 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3364G>T (p.Ala1122Ser) single nucleotide variant not provided [RCV003696977] Chr15:45099713 [GRCh38]
Chr15:45391911 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3528C>T (p.Pro1176=) single nucleotide variant not provided [RCV003718069] Chr15:45098046 [GRCh38]
Chr15:45390244 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2815C>T (p.Gln939Ter) single nucleotide variant not provided [RCV003548189] Chr15:45101829 [GRCh38]
Chr15:45394027 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3806A>C (p.Lys1269Thr) single nucleotide variant not provided [RCV003550226] Chr15:45097279 [GRCh38]
Chr15:45389477 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.889G>A (p.Ala297Thr) single nucleotide variant not provided [RCV003659120] Chr15:45110704 [GRCh38]
Chr15:45402902 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1398+13A>C single nucleotide variant not provided [RCV003697115] Chr15:45108776 [GRCh38]
Chr15:45400974 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1321T>C (p.Tyr441His) single nucleotide variant not provided [RCV003580882] Chr15:45108866 [GRCh38]
Chr15:45401064 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.161-13C>A single nucleotide variant not provided [RCV003833262] Chr15:45112731 [GRCh38]
Chr15:45404929 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.326-14C>T single nucleotide variant not provided [RCV003836104] Chr15:45111969 [GRCh38]
Chr15:45404167 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.918G>A (p.Leu306=) single nucleotide variant not provided [RCV003665752] Chr15:45110675 [GRCh38]
Chr15:45402873 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1965C>A (p.Pro655=) single nucleotide variant not provided [RCV003697204] Chr15:45106308 [GRCh38]
Chr15:45398506 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4525-18T>G single nucleotide variant not provided [RCV003849782] Chr15:45094290 [GRCh38]
Chr15:45386488 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3732C>T (p.Pro1244=) single nucleotide variant not provided [RCV003851804] Chr15:45097353 [GRCh38]
Chr15:45389551 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4396-16G>T single nucleotide variant not provided [RCV003666111] Chr15:45094707 [GRCh38]
Chr15:45386905 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2560+1G>A single nucleotide variant not provided [RCV003699353] Chr15:45104139 [GRCh38]
Chr15:45396337 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3690C>T (p.Ala1230=) single nucleotide variant not provided [RCV003834412] Chr15:45097617 [GRCh38]
Chr15:45389815 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3249A>G (p.Ser1083=) single nucleotide variant not provided [RCV003699398] Chr15:45099828 [GRCh38]
Chr15:45392026 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2560+17T>C single nucleotide variant not provided [RCV003835633] Chr15:45104123 [GRCh38]
Chr15:45396321 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1311G>A (p.Gly437=) single nucleotide variant not provided [RCV003832547] Chr15:45108876 [GRCh38]
Chr15:45401074 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.944-20T>A single nucleotide variant not provided [RCV003699404] Chr15:45110544 [GRCh38]
Chr15:45402742 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4138T>C (p.Ser1380Pro) single nucleotide variant not provided [RCV003717431] Chr15:45095538 [GRCh38]
Chr15:45387736 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1500C>T (p.Phe500=) single nucleotide variant not provided [RCV003698371] Chr15:45108121 [GRCh38]
Chr15:45400319 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.420C>T (p.Phe140=) single nucleotide variant not provided [RCV003851022] Chr15:45111861 [GRCh38]
Chr15:45404059 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.172C>T (p.Gln58Ter) single nucleotide variant not provided [RCV003697433] Chr15:45112707 [GRCh38]
Chr15:45404905 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4080+19C>T single nucleotide variant not provided [RCV003659439] Chr15:45095809 [GRCh38]
Chr15:45388007 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2172G>A (p.Glu724=) single nucleotide variant not provided [RCV003835800] Chr15:45105805 [GRCh38]
Chr15:45398003 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2814G>C (p.Thr938=) single nucleotide variant not provided [RCV003833656] Chr15:45101830 [GRCh38]
Chr15:45394028 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4557T>C (p.Pro1519=) single nucleotide variant not provided [RCV003702510] Chr15:45094240 [GRCh38]
Chr15:45386438 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.484G>A (p.Gly162Arg) single nucleotide variant not provided [RCV003726916] Chr15:45111797 [GRCh38]
Chr15:45403995 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3693+9C>T single nucleotide variant not provided [RCV003667853] Chr15:45097605 [GRCh38]
Chr15:45389803 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-15G>T single nucleotide variant not provided [RCV003698299] Chr15:45098073 [GRCh38]
Chr15:45390271 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1065G>A (p.Lys355=) single nucleotide variant not provided [RCV003839710] Chr15:45109956 [GRCh38]
Chr15:45402154 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter) single nucleotide variant DUOX2-related condition [RCV003921379]|not provided [RCV003856548] Chr15:45101931 [GRCh38]
Chr15:45394129 [GRCh37]
Chr15:15q21.1		 pathogenic|likely pathogenic
NM_001363711.2(DUOX2):c.2349C>T (p.Asn783=) single nucleotide variant not provided [RCV003703571] Chr15:45104351 [GRCh38]
Chr15:45396549 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2561-6_2561-4del deletion not provided [RCV003817265] Chr15:45104057..45104059 [GRCh38]
Chr15:45396255..45396257 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1293A>G (p.Gln431=) single nucleotide variant not provided [RCV003723403] Chr15:45108894 [GRCh38]
Chr15:45401092 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs) deletion not provided [RCV003559851] Chr15:45106602 [GRCh38]
Chr15:45398800 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2165C>T (p.Ser722Phe) single nucleotide variant not provided [RCV003833024] Chr15:45105812 [GRCh38]
Chr15:45398010 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3686A>T (p.Tyr1229Phe) single nucleotide variant not provided [RCV003833491] Chr15:45097621 [GRCh38]
Chr15:45389819 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1040+20A>G single nucleotide variant not provided [RCV003659452] Chr15:45110408 [GRCh38]
Chr15:45402606 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.108G>A (p.Gln36=) single nucleotide variant not provided [RCV003851437] Chr15:45113039 [GRCh38]
Chr15:45405237 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2654+15T>G single nucleotide variant not provided [RCV003852494] Chr15:45103945 [GRCh38]
Chr15:45396143 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.111C>T (p.Arg37=) single nucleotide variant not provided [RCV003702843] Chr15:45113036 [GRCh38]
Chr15:45405234 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3566-8G>A single nucleotide variant not provided [RCV003703539] Chr15:45097749 [GRCh38]
Chr15:45389947 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1234+15A>G single nucleotide variant not provided [RCV003703178] Chr15:45109509 [GRCh38]
Chr15:45401707 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2883C>T (p.Ser961=) single nucleotide variant not provided [RCV003726680] Chr15:45101243 [GRCh38]
Chr15:45393441 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2413G>T (p.Glu805Ter) single nucleotide variant not provided [RCV003549649] Chr15:45104287 [GRCh38]
Chr15:45396485 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4644C>T (p.Phe1548=) single nucleotide variant not provided [RCV003811437] Chr15:45094153 [GRCh38]
Chr15:45386351 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3485G>A (p.Cys1162Tyr) single nucleotide variant not provided [RCV003672392] Chr15:45099413 [GRCh38]
Chr15:45391611 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4357C>T (p.Gln1453Ter) single nucleotide variant not provided [RCV003817349] Chr15:45094974 [GRCh38]
Chr15:45387172 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3953del (p.Phe1318fs) deletion not provided [RCV003674285] Chr15:45095955 [GRCh38]
Chr15:45388153 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.316dup (p.Val106fs) duplication not provided [RCV003838599] Chr15:45112562..45112563 [GRCh38]
Chr15:45404760..45404761 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.160+17C>T single nucleotide variant not provided [RCV003850537] Chr15:45112970 [GRCh38]
Chr15:45405168 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1040+19_1040+28del deletion not provided [RCV003549699] Chr15:45110400..45110409 [GRCh38]
Chr15:45402598..45402607 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.161-20C>T single nucleotide variant not provided [RCV003674021] Chr15:45112738 [GRCh38]
Chr15:45404936 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1831+16G>C single nucleotide variant not provided [RCV003835343] Chr15:45106816 [GRCh38]
Chr15:45399014 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4230G>A (p.Leu1410=) single nucleotide variant not provided [RCV003550289] Chr15:45095446 [GRCh38]
Chr15:45387644 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3171A>C (p.Ala1057=) single nucleotide variant not provided [RCV003835216] Chr15:45100063 [GRCh38]
Chr15:45392261 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2334+1G>A single nucleotide variant not provided [RCV003703330] Chr15:45105642 [GRCh38]
Chr15:45397840 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.4146G>T (p.Leu1382Phe) single nucleotide variant not provided [RCV003667499] Chr15:45095530 [GRCh38]
Chr15:45387728 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3720G>C (p.Leu1240=) single nucleotide variant not provided [RCV003851151] Chr15:45097365 [GRCh38]
Chr15:45389563 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1812T>C (p.Ala604=) single nucleotide variant not provided [RCV003817661] Chr15:45106851 [GRCh38]
Chr15:45399049 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1001A>T (p.Gln334Leu) single nucleotide variant not provided [RCV003700939] Chr15:45110467 [GRCh38]
Chr15:45402665 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4612C>G (p.Arg1538Gly) single nucleotide variant not provided [RCV003672782] Chr15:45094185 [GRCh38]
Chr15:45386383 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1802C>T (p.Thr601Ile) single nucleotide variant not provided [RCV003697111] Chr15:45106861 [GRCh38]
Chr15:45399059 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.58C>G (p.Leu20Val) single nucleotide variant not provided [RCV003579915] Chr15:45113354 [GRCh38]
Chr15:45405552 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.306C>G (p.Thr102=) single nucleotide variant not provided [RCV003852183] Chr15:45112573 [GRCh38]
Chr15:45404771 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4239+9C>T single nucleotide variant not provided [RCV003665098] Chr15:45095428 [GRCh38]
Chr15:45387626 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1399-11_1399-10del microsatellite not provided [RCV003703741] Chr15:45108232..45108233 [GRCh38]
Chr15:45400430..45400431 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1831+18C>T single nucleotide variant not provided [RCV003697227] Chr15:45106814 [GRCh38]
Chr15:45399012 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1235A>C (p.Asp412Ala) single nucleotide variant not provided [RCV003725869] Chr15:45108952 [GRCh38]
Chr15:45401150 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3663C>T (p.Thr1221=) single nucleotide variant not provided [RCV003560424] Chr15:45097644 [GRCh38]
Chr15:45389842 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2561-10T>C single nucleotide variant not provided [RCV003851505] Chr15:45104063 [GRCh38]
Chr15:45396261 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.291G>C (p.Ser97=) single nucleotide variant not provided [RCV003840179] Chr15:45112588 [GRCh38]
Chr15:45404786 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1946-14T>C single nucleotide variant not provided [RCV003558170] Chr15:45106341 [GRCh38]
Chr15:45398539 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1848T>C (p.Ser616=) single nucleotide variant not provided [RCV003558187] Chr15:45106625 [GRCh38]
Chr15:45398823 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2148+1G>C single nucleotide variant not provided [RCV003558271] Chr15:45106124 [GRCh38]
Chr15:45398322 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.4396-14C>T single nucleotide variant not provided [RCV003837289] Chr15:45094705 [GRCh38]
Chr15:45386903 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4296C>T (p.Ile1432=) single nucleotide variant not provided [RCV003668791] Chr15:45095035 [GRCh38]
Chr15:45387233 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4209A>G (p.Ser1403=) single nucleotide variant not provided [RCV003703513] Chr15:45095467 [GRCh38]
Chr15:45387665 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4089T>C (p.Leu1363=) single nucleotide variant not provided [RCV003700715] Chr15:45095587 [GRCh38]
Chr15:45387785 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3147G>A (p.Ser1049=) single nucleotide variant not provided [RCV003726561] Chr15:45100087 [GRCh38]
Chr15:45392285 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4073A>G (p.Tyr1358Cys) single nucleotide variant not provided [RCV003672880] Chr15:45095835 [GRCh38]
Chr15:45388033 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1485C>A (p.Asp495Glu) single nucleotide variant not provided [RCV003836917] Chr15:45108136 [GRCh38]
Chr15:45400334 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2334+2T>G single nucleotide variant not provided [RCV003702130] Chr15:45105641 [GRCh38]
Chr15:45397839 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2178_2182dup (p.Ala728fs) duplication not provided [RCV003580945] Chr15:45105794..45105795 [GRCh38]
Chr15:45397992..45397993 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3005+11C>T single nucleotide variant not provided [RCV003837845] Chr15:45100744 [GRCh38]
Chr15:45392942 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2654+1G>A single nucleotide variant not provided [RCV003724936] Chr15:45103959 [GRCh38]
Chr15:45396157 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.1896G>A (p.Lys632=) single nucleotide variant not provided [RCV003701793] Chr15:45106577 [GRCh38]
Chr15:45398775 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3097C>G (p.Arg1033Gly) single nucleotide variant not provided [RCV003697299] Chr15:45100137 [GRCh38]
Chr15:45392335 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1467C>T (p.Leu489=) single nucleotide variant not provided [RCV003671951] Chr15:45108154 [GRCh38]
Chr15:45400352 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1410C>G (p.Ala470=) single nucleotide variant not provided [RCV003702595] Chr15:45108211 [GRCh38]
Chr15:45400409 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.152G>C (p.Gly51Ala) single nucleotide variant not provided [RCV003703198] Chr15:45112995 [GRCh38]
Chr15:45405193 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1574+19C>G single nucleotide variant not provided [RCV003817502] Chr15:45108028 [GRCh38]
Chr15:45400226 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2149-6A>G single nucleotide variant not provided [RCV003723304] Chr15:45105834 [GRCh38]
Chr15:45398032 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4516del (p.His1506fs) deletion not provided [RCV003724315] Chr15:45094571 [GRCh38]
Chr15:45386769 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.161-4G>T single nucleotide variant not provided [RCV003673461] Chr15:45112722 [GRCh38]
Chr15:45404920 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1377C>G (p.Leu459=) single nucleotide variant not provided [RCV003723310] Chr15:45108810 [GRCh38]
Chr15:45401008 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1479T>C (p.His493=) single nucleotide variant not provided [RCV003668125] Chr15:45108142 [GRCh38]
Chr15:45400340 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1029T>C (p.Gly343=) single nucleotide variant not provided [RCV003672164] Chr15:45110439 [GRCh38]
Chr15:45402637 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1272C>T (p.Asp424=) single nucleotide variant not provided [RCV003668593] Chr15:45108915 [GRCh38]
Chr15:45401113 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1425C>A (p.Tyr475Ter) single nucleotide variant not provided [RCV003697469] Chr15:45108196 [GRCh38]
Chr15:45400394 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2772T>C (p.Phe924=) single nucleotide variant not provided [RCV003832522] Chr15:45101872 [GRCh38]
Chr15:45394070 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.70+1G>A single nucleotide variant not provided [RCV003852182] Chr15:45113341 [GRCh38]
Chr15:45405539 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3847+8dup duplication not provided [RCV003700395] Chr15:45097229..45097230 [GRCh38]
Chr15:45389427..45389428 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2202G>A (p.Trp734Ter) single nucleotide variant not provided [RCV003559848] Chr15:45105775 [GRCh38]
Chr15:45397973 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2654+19T>G single nucleotide variant not provided [RCV003839083] Chr15:45103941 [GRCh38]
Chr15:45396139 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1838T>C (p.Leu613Pro) single nucleotide variant not provided [RCV003697555] Chr15:45106635 [GRCh38]
Chr15:45398833 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1275T>G (p.Tyr425Ter) single nucleotide variant not provided [RCV003559853] Chr15:45108912 [GRCh38]
Chr15:45401110 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1167G>A (p.Glu389=) single nucleotide variant not provided [RCV003668130] Chr15:45109591 [GRCh38]
Chr15:45401789 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-11T>C single nucleotide variant not provided [RCV003560221] Chr15:45098069 [GRCh38]
Chr15:45390267 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2118G>A (p.Leu706=) single nucleotide variant not provided [RCV003560706] Chr15:45106155 [GRCh38]
Chr15:45398353 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.944-7C>G single nucleotide variant not provided [RCV003855390] Chr15:45110531 [GRCh38]
Chr15:45402729 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3005+17T>G single nucleotide variant not provided [RCV003673976] Chr15:45100738 [GRCh38]
Chr15:45392936 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2802G>A (p.Glu934=) single nucleotide variant not provided [RCV003667315] Chr15:45101842 [GRCh38]
Chr15:45394040 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1969del (p.Glu657fs) deletion not provided [RCV003559849] Chr15:45106304 [GRCh38]
Chr15:45398502 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2235T>C (p.His745=) single nucleotide variant not provided [RCV003669075] Chr15:45105742 [GRCh38]
Chr15:45397940 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2432T>C (p.Phe811Ser) single nucleotide variant not provided [RCV003703210] Chr15:45104268 [GRCh38]
Chr15:45396466 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4015T>G (p.Trp1339Gly) single nucleotide variant not provided [RCV003673995] Chr15:45095893 [GRCh38]
Chr15:45388091 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2655-11T>C single nucleotide variant not provided [RCV003700628] Chr15:45102000 [GRCh38]
Chr15:45394198 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1693+1G>C single nucleotide variant not provided [RCV003855441] Chr15:45107344 [GRCh38]
Chr15:45399542 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.396C>T (p.Arg132=) single nucleotide variant not provided [RCV003673622] Chr15:45111885 [GRCh38]
Chr15:45404083 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3267C>A (p.Ser1089Arg) single nucleotide variant not provided [RCV003834980] Chr15:45099810 [GRCh38]
Chr15:45392008 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2921+10A>G single nucleotide variant not provided [RCV003702447] Chr15:45101195 [GRCh38]
Chr15:45393393 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3565+12G>A single nucleotide variant not provided [RCV003697730] Chr15:45097997 [GRCh38]
Chr15:45390195 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.488G>A (p.Arg163Gln) single nucleotide variant not provided [RCV003832874] Chr15:45111793 [GRCh38]
Chr15:45403991 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1903A>C (p.Lys635Gln) single nucleotide variant not provided [RCV003664339] Chr15:45106570 [GRCh38]
Chr15:45398768 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2149-16C>A single nucleotide variant not provided [RCV003723925] Chr15:45105844 [GRCh38]
Chr15:45398042 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1398+18T>A single nucleotide variant not provided [RCV003838453] Chr15:45108771 [GRCh38]
Chr15:45400969 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4081-10C>T single nucleotide variant not provided [RCV003702055] Chr15:45095605 [GRCh38]
Chr15:45387803 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4359G>A (p.Gln1453=) single nucleotide variant not provided [RCV003666138] Chr15:45094972 [GRCh38]
Chr15:45387170 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.282C>T (p.Gly94=) single nucleotide variant not provided [RCV003666159] Chr15:45112597 [GRCh38]
Chr15:45404795 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.513+16C>A single nucleotide variant not provided [RCV003666926] Chr15:45111752 [GRCh38]
Chr15:45403950 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4629C>T (p.His1543=) single nucleotide variant not provided [RCV003838546] Chr15:45094168 [GRCh38]
Chr15:45386366 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.978G>A (p.Pro326=) single nucleotide variant not provided [RCV003716833] Chr15:45110490 [GRCh38]
Chr15:45402688 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1755G>T (p.Leu585=) single nucleotide variant not provided [RCV003664862] Chr15:45106908 [GRCh38]
Chr15:45399106 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2922-13T>G single nucleotide variant not provided [RCV003699294] Chr15:45100851 [GRCh38]
Chr15:45393049 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4081-8C>T single nucleotide variant not provided [RCV003549492] Chr15:45095603 [GRCh38]
Chr15:45387801 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2160T>C (p.Phe720=) single nucleotide variant not provided [RCV003664902] Chr15:45105817 [GRCh38]
Chr15:45398015 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3692_3693+13del deletion not provided [RCV003834411] Chr15:45097601..45097615 [GRCh38]
Chr15:45389799..45389813 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2922-17C>G single nucleotide variant not provided [RCV003836727] Chr15:45100855 [GRCh38]
Chr15:45393053 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1398+20A>G single nucleotide variant not provided [RCV003838568] Chr15:45108769 [GRCh38]
Chr15:45400967 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3459A>C (p.Ser1153=) single nucleotide variant not provided [RCV003852420] Chr15:45099439 [GRCh38]
Chr15:45391637 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4076C>A (p.Pro1359Gln) single nucleotide variant not provided [RCV003699375] Chr15:45095832 [GRCh38]
Chr15:45388030 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1008del (p.Ser337fs) deletion not provided [RCV003700425] Chr15:45110460 [GRCh38]
Chr15:45402658 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1574+16G>T single nucleotide variant not provided [RCV003850475] Chr15:45108031 [GRCh38]
Chr15:45400229 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.504C>A (p.Pro168=) single nucleotide variant not provided [RCV003671102] Chr15:45111777 [GRCh38]
Chr15:45403975 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3325del (p.Leu1109fs) deletion not provided [RCV003559846] Chr15:45099752 [GRCh38]
Chr15:45391950 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3096G>C (p.Lys1032Asn) single nucleotide variant not provided [RCV003559847] Chr15:45100138 [GRCh38]
Chr15:45392336 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1057_1058del (p.Phe353fs) deletion not provided [RCV003559854] Chr15:45109963..45109964 [GRCh38]
Chr15:45402161..45402162 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.201C>T (p.Asp67=) single nucleotide variant not provided [RCV003833082] Chr15:45112678 [GRCh38]
Chr15:45404876 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.493_506del (p.Pro165fs) deletion not provided [RCV003723620] Chr15:45111775..45111788 [GRCh38]
Chr15:45403973..45403986 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1831+13G>A single nucleotide variant not provided [RCV003667304] Chr15:45106819 [GRCh38]
Chr15:45399017 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.477del (p.Glu160fs) deletion not provided [RCV003559855] Chr15:45111804 [GRCh38]
Chr15:45404002 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3563C>T (p.Pro1188Leu) single nucleotide variant not provided [RCV003672138] Chr15:45098011 [GRCh38]
Chr15:45390209 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2762G>A (p.Trp921Ter) single nucleotide variant not provided [RCV003665623] Chr15:45101882 [GRCh38]
Chr15:45394080 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2517G>C (p.Leu839=) single nucleotide variant not provided [RCV003700469] Chr15:45104183 [GRCh38]
Chr15:45396381 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1128G>A (p.Arg376=) single nucleotide variant not provided [RCV003672181] Chr15:45109893 [GRCh38]
Chr15:45402091 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2148+17C>T single nucleotide variant not provided [RCV003838238] Chr15:45106108 [GRCh38]
Chr15:45398306 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3847+9C>T single nucleotide variant DUOX2-related condition [RCV003939240]|not provided [RCV003854397] Chr15:45097229 [GRCh38]
Chr15:45389427 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4239+15C>T single nucleotide variant not provided [RCV003701535] Chr15:45095422 [GRCh38]
Chr15:45387620 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1931A>G (p.Lys644Arg) single nucleotide variant not provided [RCV003559850] Chr15:45106542 [GRCh38]
Chr15:45398740 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2354C>A (p.Ala785Asp) single nucleotide variant not provided [RCV003837837] Chr15:45104346 [GRCh38]
Chr15:45396544 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4396-8G>A single nucleotide variant not provided [RCV003668242] Chr15:45094699 [GRCh38]
Chr15:45386897 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1399-15C>T single nucleotide variant not provided [RCV003834637] Chr15:45108237 [GRCh38]
Chr15:45400435 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4343_4349del (p.His1448fs) deletion not provided [RCV003723970] Chr15:45094982..45094988 [GRCh38]
Chr15:45387180..45387186 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3192C>T (p.Gly1064=) single nucleotide variant not provided [RCV003663770] Chr15:45099885 [GRCh38]
Chr15:45392083 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4395+14C>A single nucleotide variant not provided [RCV003659237] Chr15:45094922 [GRCh38]
Chr15:45387120 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2177G>A (p.Arg726Gln) single nucleotide variant not provided [RCV003852247] Chr15:45105800 [GRCh38]
Chr15:45397998 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1186T>C (p.Ser396Pro) single nucleotide variant not provided [RCV003835741] Chr15:45109572 [GRCh38]
Chr15:45401770 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.342C>G (p.Ser114=) single nucleotide variant not provided [RCV003667540] Chr15:45111939 [GRCh38]
Chr15:45404137 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4525-24TC[4] microsatellite not provided [RCV003838611] Chr15:45094287..45094288 [GRCh38]
Chr15:45386485..45386486 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4314G>A (p.Glu1438=) single nucleotide variant not provided [RCV003668592] Chr15:45095017 [GRCh38]
Chr15:45387215 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1035C>T (p.Tyr345=) single nucleotide variant not provided [RCV003672462] Chr15:45110433 [GRCh38]
Chr15:45402631 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2654+13C>T single nucleotide variant not provided [RCV003854765] Chr15:45103947 [GRCh38]
Chr15:45396145 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.130_148del (p.Asn44fs) deletion not provided [RCV003581047] Chr15:45112999..45113017 [GRCh38]
Chr15:45405197..45405215 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1374T>A (p.Asp458Glu) single nucleotide variant not provided [RCV003549449] Chr15:45108813 [GRCh38]
Chr15:45401011 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.12A>G (p.Ala4=) single nucleotide variant not provided [RCV003580594] Chr15:45113400 [GRCh38]
Chr15:45405598 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1641T>C (p.Val547=) single nucleotide variant not provided [RCV003700671] Chr15:45107397 [GRCh38]
Chr15:45399595 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4395A>C (p.Leu1465=) single nucleotide variant not provided [RCV003702103] Chr15:45094936 [GRCh38]
Chr15:45387134 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2799C>G (p.Ser933Arg) single nucleotide variant not provided [RCV003851408] Chr15:45101845 [GRCh38]
Chr15:45394043 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.489G>A (p.Arg163=) single nucleotide variant not provided [RCV003671090] Chr15:45111792 [GRCh38]
Chr15:45403990 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2921+20T>C single nucleotide variant not provided [RCV003854682] Chr15:45101185 [GRCh38]
Chr15:45393383 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2334G>C (p.Gln778His) single nucleotide variant not provided [RCV003672669] Chr15:45105643 [GRCh38]
Chr15:45397841 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3015G>A (p.Val1005=) single nucleotide variant not provided [RCV003560501] Chr15:45100219 [GRCh38]
Chr15:45392417 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.513+15G>A single nucleotide variant not provided [RCV003836019] Chr15:45111753 [GRCh38]
Chr15:45403951 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2031G>A (p.Arg677=) single nucleotide variant not provided [RCV003700759] Chr15:45106242 [GRCh38]
Chr15:45398440 [GRCh37]
Chr15:15q21.1		 likely benign
NC_000015.10:g.45098049_45098064del deletion not provided [RCV003557861] Chr15:45098043..45098058 [GRCh38]
Chr15:45390241..45390256 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2304G>A (p.Leu768=) single nucleotide variant not provided [RCV003724316] Chr15:45105673 [GRCh38]
Chr15:45397871 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1832T>G (p.Val611Gly) single nucleotide variant not provided [RCV003559532] Chr15:45106641 [GRCh38]
Chr15:45398839 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3804G>A (p.Lys1268=) single nucleotide variant not provided [RCV003698282] Chr15:45097281 [GRCh38]
Chr15:45389479 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3766A>G (p.Ile1256Val) single nucleotide variant not provided [RCV003659012] Chr15:45097319 [GRCh38]
Chr15:45389517 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1921G>T (p.Glu641Ter) single nucleotide variant not provided [RCV003665624] Chr15:45106552 [GRCh38]
Chr15:45398750 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4209A>C (p.Ser1403=) single nucleotide variant not provided [RCV003557852] Chr15:45095467 [GRCh38]
Chr15:45387665 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.437G>A (p.Gly146Glu) single nucleotide variant not provided [RCV003559499] Chr15:45111844 [GRCh38]
Chr15:45404042 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3340C>T (p.Leu1114Phe) single nucleotide variant not provided [RCV003667927] Chr15:45099737 [GRCh38]
Chr15:45391935 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.310C>T (p.Leu104=) single nucleotide variant not provided [RCV003854715] Chr15:45112569 [GRCh38]
Chr15:45404767 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3416-15G>A single nucleotide variant not provided [RCV003668431] Chr15:45099497 [GRCh38]
Chr15:45391695 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3039G>A (p.Glu1013=) single nucleotide variant not provided [RCV003659121] Chr15:45100195 [GRCh38]
Chr15:45392393 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3507G>C (p.Val1169=) single nucleotide variant not provided [RCV003836347] Chr15:45099391 [GRCh38]
Chr15:45391589 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1575-7A>G single nucleotide variant not provided [RCV003659188] Chr15:45107470 [GRCh38]
Chr15:45399668 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2335-8dup duplication not provided [RCV003723973] Chr15:45104372..45104373 [GRCh38]
Chr15:45396570..45396571 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1041-14G>A single nucleotide variant not provided [RCV003707989] Chr15:45109994 [GRCh38]
Chr15:45402192 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3597G>T (p.Leu1199=) single nucleotide variant not provided [RCV003708069] Chr15:45097710 [GRCh38]
Chr15:45389908 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1398+11G>A single nucleotide variant not provided [RCV003566569] Chr15:45108778 [GRCh38]
Chr15:45400976 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2335-15G>T single nucleotide variant not provided [RCV003842664] Chr15:45104380 [GRCh38]
Chr15:45396578 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2791dup (p.His931fs) duplication not provided [RCV003676538] Chr15:45101852..45101853 [GRCh38]
Chr15:45394050..45394051 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2189T>G (p.Val730Gly) single nucleotide variant not provided [RCV003821819] Chr15:45105788 [GRCh38]
Chr15:45397986 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4396-12del deletion not provided [RCV003710206] Chr15:45094703 [GRCh38]
Chr15:45386901 [GRCh37]
Chr15:15q21.1		 benign
NM_001363711.2(DUOX2):c.2385C>T (p.Ser795=) single nucleotide variant not provided [RCV003564691] Chr15:45104315 [GRCh38]
Chr15:45396513 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.916C>T (p.Leu306=) single nucleotide variant not provided [RCV003566306] Chr15:45110677 [GRCh38]
Chr15:45402875 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3852G>A (p.Val1284=) single nucleotide variant not provided [RCV003563684] Chr15:45096056 [GRCh38]
Chr15:45388254 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1587G>A (p.Lys529=) single nucleotide variant not provided [RCV003675779] Chr15:45107451 [GRCh38]
Chr15:45399649 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2514C>T (p.Tyr838=) single nucleotide variant not provided [RCV003705001] Chr15:45104186 [GRCh38]
Chr15:45396384 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.57C>T (p.Ser19=) single nucleotide variant not provided [RCV003858450] Chr15:45113355 [GRCh38]
Chr15:45405553 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.327C>T (p.Gly109=) single nucleotide variant not provided [RCV003728528] Chr15:45111954 [GRCh38]
Chr15:45404152 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2073G>A (p.Gln691=) single nucleotide variant not provided [RCV003565020] Chr15:45106200 [GRCh38]
Chr15:45398398 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3565+18T>C single nucleotide variant not provided [RCV003709299] Chr15:45097991 [GRCh38]
Chr15:45390189 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3707G>A (p.Gly1236Asp) single nucleotide variant not provided [RCV003862765] Chr15:45097378 [GRCh38]
Chr15:45389576 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2553C>A (p.Phe851Leu) single nucleotide variant not provided [RCV003542031] Chr15:45104147 [GRCh38]
Chr15:45396345 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2482T>C (p.Phe828Leu) single nucleotide variant not provided [RCV003550398] Chr15:45104218 [GRCh38]
Chr15:45396416 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1465C>G (p.Leu489Val) single nucleotide variant not provided [RCV003564463] Chr15:45108156 [GRCh38]
Chr15:45400354 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4464C>A (p.Thr1488=) single nucleotide variant not provided [RCV003567674] Chr15:45094623 [GRCh38]
Chr15:45386821 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1574+7C>A single nucleotide variant not provided [RCV003845765] Chr15:45108040 [GRCh38]
Chr15:45400238 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2148+1G>T single nucleotide variant not provided [RCV003734654] Chr15:45106124 [GRCh38]
Chr15:45398322 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3750C>T (p.Phe1250=) single nucleotide variant not provided [RCV003854155] Chr15:45097335 [GRCh38]
Chr15:45389533 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-8C>T single nucleotide variant not provided [RCV003857212] Chr15:45098066 [GRCh38]
Chr15:45390264 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.477C>G (p.Pro159=) single nucleotide variant not provided [RCV003821207] Chr15:45111804 [GRCh38]
Chr15:45404002 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1395C>G (p.Pro465=) single nucleotide variant not provided [RCV003550752] Chr15:45108792 [GRCh38]
Chr15:45400990 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2358C>T (p.Asp786=) single nucleotide variant not provided [RCV003860239] Chr15:45104342 [GRCh38]
Chr15:45396540 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.161-5C>T single nucleotide variant not provided [RCV003676843] Chr15:45112723 [GRCh38]
Chr15:45404921 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1173G>T (p.Leu391=) single nucleotide variant not provided [RCV003847730] Chr15:45109585 [GRCh38]
Chr15:45401783 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1996C>T (p.Leu666=) single nucleotide variant not provided [RCV003682066] Chr15:45106277 [GRCh38]
Chr15:45398475 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3640del (p.Ser1214fs) deletion not provided [RCV003566590] Chr15:45097667 [GRCh38]
Chr15:45389865 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4374C>T (p.Phe1458=) single nucleotide variant not provided [RCV003708145] Chr15:45094957 [GRCh38]
Chr15:45387155 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2760A>G (p.Thr920=) single nucleotide variant not provided [RCV003857309] Chr15:45101884 [GRCh38]
Chr15:45394082 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1461_1462inv (p.Gly488Arg) inversion not provided [RCV003842259] Chr15:45108159..45108160 [GRCh38]
Chr15:45400357..45400358 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.987G>A (p.Val329=) single nucleotide variant not provided [RCV003552455] Chr15:45110481 [GRCh38]
Chr15:45402679 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3072A>G (p.Leu1024=) single nucleotide variant not provided [RCV003550917] Chr15:45100162 [GRCh38]
Chr15:45392360 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1040+7del deletion not provided [RCV003542646] Chr15:45110421 [GRCh38]
Chr15:45402619 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3160_3167del (p.Gly1054fs) deletion not provided [RCV003542648] Chr15:45100067..45100074 [GRCh38]
Chr15:45392265..45392272 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2421C>T (p.Ser807=) single nucleotide variant not provided [RCV003857399] Chr15:45104279 [GRCh38]
Chr15:45396477 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.505del (p.Arg169fs) deletion not provided [RCV003552576] Chr15:45111776 [GRCh38]
Chr15:45403974 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.240C>A (p.Asn80Lys) single nucleotide variant not provided [RCV003564078] Chr15:45112639 [GRCh38]
Chr15:45404837 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.345C>T (p.Asp115=) single nucleotide variant not provided [RCV003821718] Chr15:45111936 [GRCh38]
Chr15:45404134 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.325+7G>A single nucleotide variant not provided [RCV003703870] Chr15:45112547 [GRCh38]
Chr15:45404745 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1341C>T (p.Ala447=) single nucleotide variant not provided [RCV003710569] Chr15:45108846 [GRCh38]
Chr15:45401044 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3693+17G>T single nucleotide variant not provided [RCV003563059] Chr15:45097597 [GRCh38]
Chr15:45389795 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3025C>A (p.Arg1009=) single nucleotide variant not provided [RCV003705107] Chr15:45100209 [GRCh38]
Chr15:45392407 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2712G>A (p.Val904=) single nucleotide variant not provided [RCV003553574] Chr15:45101932 [GRCh38]
Chr15:45394130 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4239+15C>A single nucleotide variant not provided [RCV003681210] Chr15:45095422 [GRCh38]
Chr15:45387620 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2997del (p.Phe999fs) deletion not provided [RCV003821886] Chr15:45100763 [GRCh38]
Chr15:45392961 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2560+11G>A single nucleotide variant not provided [RCV003857199] Chr15:45104129 [GRCh38]
Chr15:45396327 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4239+2T>G single nucleotide variant not provided [RCV003727146] Chr15:45095435 [GRCh38]
Chr15:45387633 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.435C>A (p.Arg145=) single nucleotide variant not provided [RCV003681399] Chr15:45111846 [GRCh38]
Chr15:45404044 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4341G>A (p.Val1447=) single nucleotide variant not provided [RCV003729035] Chr15:45094990 [GRCh38]
Chr15:45387188 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3882C>T (p.Gly1294=) single nucleotide variant not provided [RCV003729036] Chr15:45096026 [GRCh38]
Chr15:45388224 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.933G>A (p.Pro311=) single nucleotide variant not provided [RCV003728527] Chr15:45110660 [GRCh38]
Chr15:45402858 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1281C>T (p.Ala427=) single nucleotide variant not provided [RCV003846982] Chr15:45108906 [GRCh38]
Chr15:45401104 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3249A>C (p.Ser1083=) single nucleotide variant not provided [RCV003680161] Chr15:45099828 [GRCh38]
Chr15:45392026 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.943+14G>A single nucleotide variant not provided [RCV003824075] Chr15:45110636 [GRCh38]
Chr15:45402834 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3999C>T (p.Ile1333=) single nucleotide variant not provided [RCV003711613] Chr15:45095909 [GRCh38]
Chr15:45388107 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1132-15A>G single nucleotide variant not provided [RCV003683238] Chr15:45109641 [GRCh38]
Chr15:45401839 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2601T>C (p.Tyr867=) single nucleotide variant not provided [RCV003866458] Chr15:45104013 [GRCh38]
Chr15:45396211 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2223T>C (p.Ala741=) single nucleotide variant not provided [RCV003866379] Chr15:45105754 [GRCh38]
Chr15:45397952 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2792A>G (p.His931Arg) single nucleotide variant not provided [RCV003819013] Chr15:45101852 [GRCh38]
Chr15:45394050 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.161-2A>T single nucleotide variant not provided [RCV003674961] Chr15:45112720 [GRCh38]
Chr15:45404918 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.1575-5C>T single nucleotide variant not provided [RCV003843705] Chr15:45107468 [GRCh38]
Chr15:45399666 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2436C>G (p.Ala812=) single nucleotide variant not provided [RCV003683336] Chr15:45104264 [GRCh38]
Chr15:45396462 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1832-5T>C single nucleotide variant not provided [RCV003676029] Chr15:45106646 [GRCh38]
Chr15:45398844 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4137G>T (p.Val1379=) single nucleotide variant not provided [RCV003705470] Chr15:45095539 [GRCh38]
Chr15:45387737 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4464C>T (p.Thr1488=) single nucleotide variant not provided [RCV003843750] Chr15:45094623 [GRCh38]
Chr15:45386821 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2488C>T (p.Leu830=) single nucleotide variant not provided [RCV003861953] Chr15:45104212 [GRCh38]
Chr15:45396410 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2481G>C (p.Met827Ile) single nucleotide variant not provided [RCV003847214] Chr15:45104219 [GRCh38]
Chr15:45396417 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2335-2A>T single nucleotide variant not provided [RCV003734220] Chr15:45104367 [GRCh38]
Chr15:45396565 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.883-7C>T single nucleotide variant not provided [RCV003707436] Chr15:45110717 [GRCh38]
Chr15:45402915 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3408C>A (p.Val1136=) single nucleotide variant not provided [RCV003840691] Chr15:45099669 [GRCh38]
Chr15:45391867 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4395+5G>C single nucleotide variant not provided [RCV003841099] Chr15:45094931 [GRCh38]
Chr15:45387129 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3183C>G (p.Tyr1061Ter) single nucleotide variant not provided [RCV003552580] Chr15:45100051 [GRCh38]
Chr15:45392249 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1574+11C>T single nucleotide variant not provided [RCV003863498] Chr15:45108036 [GRCh38]
Chr15:45400234 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.943+10C>T single nucleotide variant not provided [RCV003710051] Chr15:45110640 [GRCh38]
Chr15:45402838 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4395+15G>C single nucleotide variant not provided [RCV003711714] Chr15:45094921 [GRCh38]
Chr15:45387119 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3646C>A (p.Arg1216=) single nucleotide variant not provided [RCV003865599] Chr15:45097661 [GRCh38]
Chr15:45389859 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1046C>T (p.Ala349Val) single nucleotide variant not provided [RCV003840812] Chr15:45109975 [GRCh38]
Chr15:45402173 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1455C>T (p.Leu485=) single nucleotide variant not provided [RCV003566248] Chr15:45108166 [GRCh38]
Chr15:45400364 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.405T>C (p.Pro135=) single nucleotide variant not provided [RCV003731188] Chr15:45111876 [GRCh38]
Chr15:45404074 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3099C>T (p.Arg1033=) single nucleotide variant not provided [RCV003567239] Chr15:45100135 [GRCh38]
Chr15:45392333 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3312C>T (p.Asn1104=) single nucleotide variant not provided [RCV003710089] Chr15:45099765 [GRCh38]
Chr15:45391963 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3855C>T (p.Thr1285=) single nucleotide variant not provided [RCV003847226] Chr15:45096053 [GRCh38]
Chr15:45388251 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.513+17G>T single nucleotide variant not provided [RCV003710053] Chr15:45111751 [GRCh38]
Chr15:45403949 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2007C>T (p.Asp669=) single nucleotide variant not provided [RCV003712210] Chr15:45106266 [GRCh38]
Chr15:45398464 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4536C>T (p.Ile1512=) single nucleotide variant not provided [RCV003729438] Chr15:45094261 [GRCh38]
Chr15:45386459 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1425C>G (p.Tyr475Ter) single nucleotide variant not provided [RCV003844627] Chr15:45108196 [GRCh38]
Chr15:45400394 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2361A>G (p.Ala787=) single nucleotide variant not provided [RCV003670836] Chr15:45104339 [GRCh38]
Chr15:45396537 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2355C>T (p.Ala785=) single nucleotide variant not provided [RCV003675231] Chr15:45104345 [GRCh38]
Chr15:45396543 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1324A>T (p.Ser442Cys) single nucleotide variant not provided [RCV003711032] Chr15:45108863 [GRCh38]
Chr15:45401061 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4294A>T (p.Ile1432Phe) single nucleotide variant not provided [RCV003709452] Chr15:45095037 [GRCh38]
Chr15:45387235 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1693+19C>T single nucleotide variant not provided [RCV003709492] Chr15:45107326 [GRCh38]
Chr15:45399524 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2552del (p.Phe851fs) deletion not provided [RCV003719058] Chr15:45104148 [GRCh38]
Chr15:45396346 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2852-20C>A single nucleotide variant not provided [RCV003685795] Chr15:45101294 [GRCh38]
Chr15:45393492 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2560+2T>C single nucleotide variant not provided [RCV003863064] Chr15:45104138 [GRCh38]
Chr15:45396336 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2823T>A (p.Cys941Ter) single nucleotide variant not provided [RCV003719329] Chr15:45101821 [GRCh38]
Chr15:45394019 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2355C>A (p.Ala785=) single nucleotide variant not provided [RCV003721025] Chr15:45104345 [GRCh38]
Chr15:45396543 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1926A>C (p.Ala642=) single nucleotide variant not provided [RCV003704947] Chr15:45106547 [GRCh38]
Chr15:45398745 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1630C>T (p.Leu544=) single nucleotide variant not provided [RCV003678556] Chr15:45107408 [GRCh38]
Chr15:45399606 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1694-17C>T single nucleotide variant not provided [RCV003678631] Chr15:45106986 [GRCh38]
Chr15:45399184 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2654+13C>A single nucleotide variant not provided [RCV003867446] Chr15:45103947 [GRCh38]
Chr15:45396145 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1791T>C (p.Gly597=) single nucleotide variant not provided [RCV003677220] Chr15:45106872 [GRCh38]
Chr15:45399070 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1040+9G>C single nucleotide variant not provided [RCV003859768] Chr15:45110419 [GRCh38]
Chr15:45402617 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4510G>A (p.Glu1504Lys) single nucleotide variant not provided [RCV003706439] Chr15:45094577 [GRCh38]
Chr15:45386775 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.161-18C>G single nucleotide variant not provided [RCV003678614] Chr15:45112736 [GRCh38]
Chr15:45404934 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1149_1155del (p.Ser383fs) deletion not provided [RCV003551911] Chr15:45109603..45109609 [GRCh38]
Chr15:45401801..45401807 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3565+1G>T single nucleotide variant not provided [RCV003566455] Chr15:45098008 [GRCh38]
Chr15:45390206 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2541C>T (p.Ile847=) single nucleotide variant not provided [RCV003684253] Chr15:45104159 [GRCh38]
Chr15:45396357 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2157del (p.Phe720fs) deletion not provided [RCV003680872] Chr15:45105820 [GRCh38]
Chr15:45398018 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4479C>T (p.Pro1493=) single nucleotide variant not provided [RCV003722632] Chr15:45094608 [GRCh38]
Chr15:45386806 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4476T>C (p.Arg1492=) single nucleotide variant not provided [RCV003722633] Chr15:45094611 [GRCh38]
Chr15:45386809 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1694-2A>T single nucleotide variant not provided [RCV003843588] Chr15:45106971 [GRCh38]
Chr15:45399169 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.918G>T (p.Leu306=) single nucleotide variant not provided [RCV003721089] Chr15:45110675 [GRCh38]
Chr15:45402873 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1398+8A>G single nucleotide variant not provided [RCV003721132] Chr15:45108781 [GRCh38]
Chr15:45400979 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3969G>A (p.Ala1323=) single nucleotide variant not provided [RCV003842203] Chr15:45095939 [GRCh38]
Chr15:45388137 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-18G>A single nucleotide variant not provided [RCV003865939] Chr15:45098076 [GRCh38]
Chr15:45390274 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1906G>T (p.Glu636Ter) single nucleotide variant not provided [RCV003719183] Chr15:45106567 [GRCh38]
Chr15:45398765 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2031G>T (p.Arg677Ser) single nucleotide variant not provided [RCV003706771] Chr15:45106242 [GRCh38]
Chr15:45398440 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.939T>C (p.Tyr313=) single nucleotide variant not provided [RCV003866201] Chr15:45110654 [GRCh38]
Chr15:45402852 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1866C>T (p.Phe622=) single nucleotide variant not provided [RCV003675015] Chr15:45106607 [GRCh38]
Chr15:45398805 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.273C>A (p.Gly91=) single nucleotide variant not provided [RCV003684283] Chr15:45112606 [GRCh38]
Chr15:45404804 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.129C>T (p.Asn43=) single nucleotide variant not provided [RCV003675055] Chr15:45113018 [GRCh38]
Chr15:45405216 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3694-10G>C single nucleotide variant not provided [RCV003677585] Chr15:45097401 [GRCh38]
Chr15:45389599 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3799C>G (p.Arg1267Gly) single nucleotide variant not provided [RCV003679396] Chr15:45097286 [GRCh38]
Chr15:45389484 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3006-9T>C single nucleotide variant not provided [RCV003721486] Chr15:45100237 [GRCh38]
Chr15:45392435 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1946-11C>T single nucleotide variant not provided [RCV003721496] Chr15:45106338 [GRCh38]
Chr15:45398536 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1749A>T (p.Ala583=) single nucleotide variant not provided [RCV003728960] Chr15:45106914 [GRCh38]
Chr15:45399112 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4081-20T>C single nucleotide variant not provided [RCV003854199] Chr15:45095615 [GRCh38]
Chr15:45387813 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3416-4C>G single nucleotide variant not provided [RCV003720269] Chr15:45099486 [GRCh38]
Chr15:45391684 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1947G>A (p.Ala649=) single nucleotide variant not provided [RCV003737700] Chr15:45106326 [GRCh38]
Chr15:45398524 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1398+16_1398+17dup duplication not provided [RCV003710938] Chr15:45108771..45108772 [GRCh38]
Chr15:45400969..45400970 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3185-4C>T single nucleotide variant not provided [RCV003870017] Chr15:45099896 [GRCh38]
Chr15:45392094 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2181C>T (p.Gly727=) single nucleotide variant not provided [RCV003848375] Chr15:45105796 [GRCh38]
Chr15:45397994 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1041-11C>T single nucleotide variant not provided [RCV003681861] Chr15:45109991 [GRCh38]
Chr15:45402189 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.358G>A (p.Glu120Lys) single nucleotide variant not provided [RCV003848455] Chr15:45111923 [GRCh38]
Chr15:45404121 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.951T>C (p.Arg317=) single nucleotide variant not provided [RCV003555035] Chr15:45110517 [GRCh38]
Chr15:45402715 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3462C>T (p.Val1154=) single nucleotide variant not provided [RCV003557216] Chr15:45099436 [GRCh38]
Chr15:45391634 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4317C>T (p.Asn1439=) single nucleotide variant not provided [RCV003868339] Chr15:45095014 [GRCh38]
Chr15:45387212 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.81C>T (p.Asp27=) single nucleotide variant not provided [RCV003872323] Chr15:45113066 [GRCh38]
Chr15:45405264 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4228C>T (p.Leu1410=) single nucleotide variant not provided [RCV003684641] Chr15:45095448 [GRCh38]
Chr15:45387646 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.70+22C>A single nucleotide variant not provided [RCV003681880] Chr15:45113320 [GRCh38]
Chr15:45405518 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1576C>T (p.Leu526=) single nucleotide variant not provided [RCV003684650] Chr15:45107462 [GRCh38]
Chr15:45399660 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1399-6C>A single nucleotide variant not provided [RCV003685961] Chr15:45108228 [GRCh38]
Chr15:45400426 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2561-20del deletion not provided [RCV003564563] Chr15:45104073 [GRCh38]
Chr15:45396271 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3515+13G>A single nucleotide variant not provided [RCV003844536] Chr15:45099370 [GRCh38]
Chr15:45391568 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2139G>A (p.Glu713=) single nucleotide variant not provided [RCV003720065] Chr15:45106134 [GRCh38]
Chr15:45398332 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3474C>T (p.Ser1158=) single nucleotide variant not provided [RCV003686019] Chr15:45099424 [GRCh38]
Chr15:45391622 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3185-9C>G single nucleotide variant not provided [RCV003563306] Chr15:45099901 [GRCh38]
Chr15:45392099 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3085C>T (p.Gln1029Ter) single nucleotide variant not provided [RCV003711461] Chr15:45100149 [GRCh38]
Chr15:45392347 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1170G>C (p.Leu390=) single nucleotide variant not provided [RCV003683974] Chr15:45109588 [GRCh38]
Chr15:45401786 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.513+17G>A single nucleotide variant not provided [RCV003719121] Chr15:45111751 [GRCh38]
Chr15:45403949 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3683T>A (p.Leu1228His) single nucleotide variant not provided [RCV003719128] Chr15:45097624 [GRCh38]
Chr15:45389822 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.270G>A (p.Arg90=) single nucleotide variant not provided [RCV003868539] Chr15:45112609 [GRCh38]
Chr15:45404807 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2148+12C>T single nucleotide variant not provided [RCV003868485] Chr15:45106113 [GRCh38]
Chr15:45398311 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.372C>T (p.Cys124=) single nucleotide variant not provided [RCV003686180] Chr15:45111909 [GRCh38]
Chr15:45404107 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1831+2T>G single nucleotide variant not provided [RCV003869797] Chr15:45106830 [GRCh38]
Chr15:45399028 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2654+12G>A single nucleotide variant not provided [RCV003721451] Chr15:45103948 [GRCh38]
Chr15:45396146 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3849A>G (p.Gly1283=) single nucleotide variant not provided [RCV003685786] Chr15:45096059 [GRCh38]
Chr15:45388257 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3565+16C>T single nucleotide variant not provided [RCV003869338] Chr15:45097993 [GRCh38]
Chr15:45390191 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1785C>T (p.Ser595=) single nucleotide variant not provided [RCV003719256] Chr15:45106878 [GRCh38]
Chr15:45399076 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1832-9C>G single nucleotide variant not provided [RCV003721552] Chr15:45106650 [GRCh38]
Chr15:45398848 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.52G>A (p.Gly18Arg) single nucleotide variant not provided [RCV003542679] Chr15:45113360 [GRCh38]
Chr15:45405558 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3694-8G>A single nucleotide variant not provided [RCV003847095] Chr15:45097399 [GRCh38]
Chr15:45389597 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4081-13C>A single nucleotide variant not provided [RCV003869511] Chr15:45095608 [GRCh38]
Chr15:45387806 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2654+9T>A single nucleotide variant not provided [RCV003564964] Chr15:45103951 [GRCh38]
Chr15:45396149 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3848-17C>T single nucleotide variant not provided [RCV003711842] Chr15:45096077 [GRCh38]
Chr15:45388275 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2367C>T (p.Thr789=) single nucleotide variant not provided [RCV003706624] Chr15:45104333 [GRCh38]
Chr15:45396531 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.943+16A>T single nucleotide variant not provided [RCV003861513] Chr15:45110634 [GRCh38]
Chr15:45402832 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.69G>T (p.Ser23=) single nucleotide variant not provided [RCV003680719] Chr15:45113343 [GRCh38]
Chr15:45405541 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4482C>T (p.Pro1494=) single nucleotide variant not provided [RCV003723131] Chr15:45094605 [GRCh38]
Chr15:45386803 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.195C>T (p.Tyr65=) single nucleotide variant not provided [RCV003723208] Chr15:45112684 [GRCh38]
Chr15:45404882 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2635G>T (p.Glu879Ter) single nucleotide variant not provided [RCV003677436] Chr15:45103979 [GRCh38]
Chr15:45396177 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1014C>T (p.Thr338=) single nucleotide variant not provided [RCV003682812] Chr15:45110454 [GRCh38]
Chr15:45402652 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3393C>T (p.Ala1131=) single nucleotide variant not provided [RCV003723254] Chr15:45099684 [GRCh38]
Chr15:45391882 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2944C>T (p.Pro982Ser) single nucleotide variant not provided [RCV003723256] Chr15:45100816 [GRCh38]
Chr15:45393014 [GRCh37]
Chr15:15q21.1		 uncertain significance
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 copy number gain not specified [RCV003987108] Chr15:22770421..50347130 [GRCh37]
Chr15:15q11.2-21.2		 pathogenic
NM_001363711.2(DUOX2):c.441C>T (p.Asp147=) single nucleotide variant not provided [RCV003710422] Chr15:45111840 [GRCh38]
Chr15:45404038 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2715G>A (p.Glu905=) single nucleotide variant not provided [RCV003870006] Chr15:45101929 [GRCh38]
Chr15:45394127 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.162C>T (p.Gly54=) single nucleotide variant not provided [RCV003674960] Chr15:45112717 [GRCh38]
Chr15:45404915 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del) microsatellite not provided [RCV003554437] Chr15:45099418..45099420 [GRCh38]
Chr15:45391616..45391618 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4235A>G (p.Lys1412Arg) single nucleotide variant not provided [RCV003722071] Chr15:45095441 [GRCh38]
Chr15:45387639 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1832-9C>T single nucleotide variant not provided [RCV003870078] Chr15:45106650 [GRCh38]
Chr15:45398848 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2733G>A (p.Ser911=) single nucleotide variant not provided [RCV003842471] Chr15:45101911 [GRCh38]
Chr15:45394109 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1904_1907del (p.Lys635fs) deletion not provided [RCV003556535] Chr15:45106566..45106569 [GRCh38]
Chr15:45398764..45398767 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.216T>C (p.Ala72=) single nucleotide variant not provided [RCV003722302] Chr15:45112663 [GRCh38]
Chr15:45404861 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4463C>T (p.Thr1488Ile) single nucleotide variant not provided [RCV003677753] Chr15:45094624 [GRCh38]
Chr15:45386822 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3901C>T (p.Gln1301Ter) single nucleotide variant not provided [RCV003734080] Chr15:45096007 [GRCh38]
Chr15:45388205 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.415G>A (p.Val139Met) single nucleotide variant not provided [RCV003733915] Chr15:45111866 [GRCh38]
Chr15:45404064 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2145C>T (p.Asp715=) single nucleotide variant not provided [RCV003675296] Chr15:45106128 [GRCh38]
Chr15:45398326 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1803C>T (p.Thr601=) single nucleotide variant not provided [RCV003848291] Chr15:45106860 [GRCh38]
Chr15:45399058 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2637A>C (p.Glu879Asp) single nucleotide variant not provided [RCV003683643] Chr15:45103977 [GRCh38]
Chr15:45396175 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3213C>T (p.Asp1071=) single nucleotide variant not provided [RCV003676431] Chr15:45099864 [GRCh38]
Chr15:45392062 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1946-19C>T single nucleotide variant not provided [RCV003679759] Chr15:45106346 [GRCh38]
Chr15:45398544 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1188C>T (p.Ser396=) single nucleotide variant not provided [RCV003563100] Chr15:45109570 [GRCh38]
Chr15:45401768 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2544G>A (p.Leu848=) single nucleotide variant not provided [RCV003682163] Chr15:45104156 [GRCh38]
Chr15:45396354 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4239+1G>A single nucleotide variant not provided [RCV003683557] Chr15:45095436 [GRCh38]
Chr15:45387634 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.3416-14T>C single nucleotide variant not provided [RCV003678045] Chr15:45099496 [GRCh38]
Chr15:45391694 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4356C>G (p.Thr1452=) single nucleotide variant not provided [RCV003862542] Chr15:45094975 [GRCh38]
Chr15:45387173 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2921+13G>A single nucleotide variant not provided [RCV003567106] Chr15:45101192 [GRCh38]
Chr15:45393390 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4239+7A>G single nucleotide variant not provided [RCV003863886] Chr15:45095430 [GRCh38]
Chr15:45387628 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1344T>C (p.Phe448=) single nucleotide variant not provided [RCV003847556] Chr15:45108843 [GRCh38]
Chr15:45401041 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1470G>A (p.Leu490=) single nucleotide variant not provided [RCV003706015] Chr15:45108151 [GRCh38]
Chr15:45400349 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.18A>G (p.Pro6=) single nucleotide variant not provided [RCV003865279] Chr15:45113394 [GRCh38]
Chr15:45405592 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4093G>T (p.Gly1365Ter) single nucleotide variant not provided [RCV003683437] Chr15:45095583 [GRCh38]
Chr15:45387781 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.2561-20A>C single nucleotide variant not provided [RCV003565862] Chr15:45104073 [GRCh38]
Chr15:45396271 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2965G>T (p.Glu989Ter) single nucleotide variant not provided [RCV003567684] Chr15:45100795 [GRCh38]
Chr15:45392993 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.513+19C>A single nucleotide variant not provided [RCV003823268] Chr15:45111749 [GRCh38]
Chr15:45403947 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.325+7G>T single nucleotide variant not provided [RCV003568421] Chr15:45112547 [GRCh38]
Chr15:45404745 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.279C>T (p.Ala93=) single nucleotide variant not provided [RCV003706020] Chr15:45112600 [GRCh38]
Chr15:45404798 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4239+17C>T single nucleotide variant not provided [RCV003683496] Chr15:45095420 [GRCh38]
Chr15:45387618 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3330A>G (p.Arg1110=) single nucleotide variant not provided [RCV003552700] Chr15:45099747 [GRCh38]
Chr15:45391945 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3186C>A (p.Tyr1062Ter) single nucleotide variant not provided [RCV003680813] Chr15:45099891 [GRCh38]
Chr15:45392089 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.4553G>A (p.Gly1518Asp) single nucleotide variant not provided [RCV003847389] Chr15:45094244 [GRCh38]
Chr15:45386442 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2016G>A (p.Leu672=) single nucleotide variant not provided [RCV003554455] Chr15:45106257 [GRCh38]
Chr15:45398455 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.883-11C>T single nucleotide variant not provided [RCV003676702] Chr15:45110721 [GRCh38]
Chr15:45402919 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3740A>T (p.His1247Leu) single nucleotide variant not provided [RCV003729329] Chr15:45097345 [GRCh38]
Chr15:45389543 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1946-19C>G single nucleotide variant not provided [RCV003554514] Chr15:45106346 [GRCh38]
Chr15:45398544 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2193G>A (p.Gln731=) single nucleotide variant not provided [RCV003856992] Chr15:45105784 [GRCh38]
Chr15:45397982 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1800C>A (p.Ile600=) single nucleotide variant not provided [RCV003856826] Chr15:45106863 [GRCh38]
Chr15:45399061 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3237C>A (p.Gly1079=) single nucleotide variant not provided [RCV003710603] Chr15:45099840 [GRCh38]
Chr15:45392038 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2533C>T (p.Leu845=) single nucleotide variant not provided [RCV003566279] Chr15:45104167 [GRCh38]
Chr15:45396365 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4239+5G>T single nucleotide variant not provided [RCV003553048] Chr15:45095432 [GRCh38]
Chr15:45387630 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4396-6C>T single nucleotide variant not provided [RCV003674697] Chr15:45094697 [GRCh38]
Chr15:45386895 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1494C>T (p.Pro498=) single nucleotide variant not provided [RCV003710651] Chr15:45108127 [GRCh38]
Chr15:45400325 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1517dup (p.Asp506fs) duplication not provided [RCV003564779] Chr15:45108103..45108104 [GRCh38]
Chr15:45400301..45400302 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1718A>T (p.Gln573Leu) single nucleotide variant not provided [RCV003550320] Chr15:45106945 [GRCh38]
Chr15:45399143 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1326C>T (p.Ser442=) single nucleotide variant not provided [RCV003821989] Chr15:45108861 [GRCh38]
Chr15:45401059 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1635C>A (p.Val545=) single nucleotide variant not provided [RCV003680103] Chr15:45107403 [GRCh38]
Chr15:45399601 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4033del (p.Glu1345fs) deletion not provided [RCV003858410] Chr15:45095875 [GRCh38]
Chr15:45388073 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.3291C>T (p.Ile1097=) single nucleotide variant not provided [RCV003564860] Chr15:45099786 [GRCh38]
Chr15:45391984 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3516-1G>T single nucleotide variant not provided [RCV003683054] Chr15:45098059 [GRCh38]
Chr15:45390257 [GRCh37]
Chr15:15q21.1		 likely pathogenic
NM_001363711.2(DUOX2):c.2335-10C>A single nucleotide variant not provided [RCV003708081] Chr15:45104375 [GRCh38]
Chr15:45396573 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.69G>C (p.Ser23=) single nucleotide variant not provided [RCV003858598] Chr15:45113343 [GRCh38]
Chr15:45405541 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.366C>G (p.Pro122=) single nucleotide variant not provided [RCV003556393] Chr15:45111915 [GRCh38]
Chr15:45404113 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2655-5T>G single nucleotide variant not provided [RCV003822102] Chr15:45101994 [GRCh38]
Chr15:45394192 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1675G>A (p.Val559Ile) single nucleotide variant not provided [RCV003704120] Chr15:45107363 [GRCh38]
Chr15:45399561 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3185-17C>A single nucleotide variant not provided [RCV003563797] Chr15:45099909 [GRCh38]
Chr15:45392107 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3672C>T (p.Leu1224=) single nucleotide variant not provided [RCV003676280] Chr15:45097635 [GRCh38]
Chr15:45389833 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4119G>A (p.Glu1373=) single nucleotide variant not provided [RCV003677371] Chr15:45095557 [GRCh38]
Chr15:45387755 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2895G>T (p.Ser965=) single nucleotide variant not provided [RCV003678531] Chr15:45101231 [GRCh38]
Chr15:45393429 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.2852-19C>T single nucleotide variant not provided [RCV003864638] Chr15:45101293 [GRCh38]
Chr15:45393491 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3199_3200delinsCT (p.Ser1067Leu) indel not provided [RCV003710963] Chr15:45099877..45099878 [GRCh38]
Chr15:45392075..45392076 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.883-13C>A single nucleotide variant not provided [RCV003706708] Chr15:45110723 [GRCh38]
Chr15:45402921 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1139A>G (p.Asn380Ser) single nucleotide variant not provided [RCV003736059] Chr15:45109619 [GRCh38]
Chr15:45401817 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4081-13C>T single nucleotide variant not provided [RCV003683271] Chr15:45095608 [GRCh38]
Chr15:45387806 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4068T>C (p.Ala1356=) single nucleotide variant not provided [RCV003550730] Chr15:45095840 [GRCh38]
Chr15:45388038 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.346G>A (p.Val116Met) single nucleotide variant not provided [RCV003731831] Chr15:45111935 [GRCh38]
Chr15:45404133 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.3948C>G (p.His1316Gln) single nucleotide variant not provided [RCV003568125] Chr15:45095960 [GRCh38]
Chr15:45388158 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.183A>C (p.Val61=) single nucleotide variant not provided [RCV003562875] Chr15:45112696 [GRCh38]
Chr15:45404894 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1206G>A (p.Glu402=) single nucleotide variant not provided [RCV003858651] Chr15:45109552 [GRCh38]
Chr15:45401750 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.1614C>T (p.Thr538=) single nucleotide variant not provided [RCV003706813] Chr15:45107424 [GRCh38]
Chr15:45399622 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3184+17G>A single nucleotide variant not provided [RCV003677626] Chr15:45100033 [GRCh38]
Chr15:45392231 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4240-20C>T single nucleotide variant not provided [RCV003708131] Chr15:45095111 [GRCh38]
Chr15:45387309 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2565C>T (p.Ser855=) single nucleotide variant not provided [RCV003861614] Chr15:45104049 [GRCh38]
Chr15:45396247 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3185-13A>G single nucleotide variant not provided [RCV003847317] Chr15:45099905 [GRCh38]
Chr15:45392103 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3771T>C (p.Tyr1257=) single nucleotide variant not provided [RCV003705712] Chr15:45097314 [GRCh38]
Chr15:45389512 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.162C>G (p.Gly54=) single nucleotide variant not provided [RCV003704486] Chr15:45112717 [GRCh38]
Chr15:45404915 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4525-8C>T single nucleotide variant not provided [RCV003842759] Chr15:45094280 [GRCh38]
Chr15:45386478 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2984T>C (p.Leu995Pro) single nucleotide variant not provided [RCV003705853] Chr15:45100776 [GRCh38]
Chr15:45392974 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.4067C>T (p.Ala1356Val) single nucleotide variant not provided [RCV003676278] Chr15:45095841 [GRCh38]
Chr15:45388039 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1235-14T>C single nucleotide variant not provided [RCV003683382] Chr15:45108966 [GRCh38]
Chr15:45401164 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2654+20A>G single nucleotide variant not provided [RCV003680877] Chr15:45103940 [GRCh38]
Chr15:45396138 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2149-7del deletion not provided [RCV003562951] Chr15:45105835 [GRCh38]
Chr15:45398033 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2538C>T (p.Asp846=) single nucleotide variant not provided [RCV003866621] Chr15:45104162 [GRCh38]
Chr15:45396360 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3591G>T (p.Leu1197=) single nucleotide variant not provided [RCV003567367] Chr15:45097716 [GRCh38]
Chr15:45389914 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4265C>A (p.Thr1422Asn) single nucleotide variant not provided [RCV003542026] Chr15:45095066 [GRCh38]
Chr15:45387264 [GRCh37]
Chr15:15q21.1		 uncertain significance
NM_001363711.2(DUOX2):c.1977C>T (p.Ser659=) single nucleotide variant DUOX2-related condition [RCV003937254] Chr15:45106296 [GRCh38]
Chr15:45398494 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.3006-15_3006-3del deletion DUOX2-related condition [RCV003964309] Chr15:45100231..45100243 [GRCh38]
Chr15:45392429..45392441 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.261A>C (p.Ala87=) single nucleotide variant DUOX2-related condition [RCV003964380] Chr15:45112618 [GRCh38]
Chr15:45404816 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.4623C>T (p.Phe1541=) single nucleotide variant DUOX2-related condition [RCV003934075] Chr15:45094174 [GRCh38]
Chr15:45386372 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.618dup (p.Pro207fs) duplication DUOX2-related condition [RCV003896955] Chr15:45111480..45111481 [GRCh38]
Chr15:45403678..45403679 [GRCh37]
Chr15:15q21.1		 pathogenic
NM_001363711.2(DUOX2):c.1335G>C (p.Leu445=) single nucleotide variant DUOX2-related condition [RCV003969843] Chr15:45108852 [GRCh38]
Chr15:45401050 [GRCh37]
Chr15:15q21.1		 likely benign
NM_001363711.2(DUOX2):c.2757G>C (p.Leu919=) single nucleotide variant DUOX2-related condition [RCV003972049] Chr15:45101887 [GRCh38]
Chr15:45394085 [GRCh37]
Chr15:15q21.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2186
Count of miRNA genes:843
Interacting mature miRNAs:981
Transcripts:ENST00000389039, ENST00000558383, ENST00000558416, ENST00000560797, ENST00000603300
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.

Markers in Region
DUOX2_9644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371545,384,762 - 45,385,624UniSTSGRCh37
Build 361543,172,054 - 43,172,916RGDNCBI36
Celera1522,276,191 - 22,277,053RGD
HuRef1522,208,968 - 22,209,830UniSTS
SHGC-57395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371545,384,904 - 45,385,170UniSTSGRCh37
Build 361543,172,196 - 43,172,462RGDNCBI36
Celera1522,276,333 - 22,276,599RGD
Cytogenetic Map15q15.3UniSTS
HuRef1522,209,110 - 22,209,376UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
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Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2 1 1 1 1
Medium 328 23 723 51 35 19 386 11 1 21 189 764 35 4 212
Low 1220 834 407 229 181 111 1848 489 805 109 906 652 124 491 1173 2
Below cutoff 877 2047 535 285 1307 277 2059 1651 2866 212 333 184 11 709 1363 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB379823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB379824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB379825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB379826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB379827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB379828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB379829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB379830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB779689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF181972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF267981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI045475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU174495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC012880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC012881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC012882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC012883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH290757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000389039   ⟹   ENSP00000373691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1545,092,650 - 45,114,172 (-)Ensembl
RefSeq Acc Id: ENST00000558383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1545,099,029 - 45,113,454 (-)Ensembl
RefSeq Acc Id: ENST00000558416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1545,100,843 - 45,101,857 (-)Ensembl
RefSeq Acc Id: ENST00000560797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1545,099,817 - 45,100,413 (-)Ensembl
RefSeq Acc Id: ENST00000603300   ⟹   ENSP00000475084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1545,092,655 - 45,114,161 (-)Ensembl
RefSeq Acc Id: NM_001363711   ⟹   NP_001350640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381545,092,650 - 45,114,172 (-)NCBI
T2T-CHM13v2.01542,900,666 - 42,922,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014080   ⟹   NP_054799
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381545,092,650 - 45,114,172 (-)NCBI
GRCh371545,384,851 - 45,406,537 (-)NCBI
Build 361543,172,144 - 43,193,651 (-)NCBI Archive
HuRef1522,209,058 - 22,230,571 (-)ENTREZGENE
CHM1_11545,503,163 - 45,524,692 (-)NCBI
T2T-CHM13v2.01542,900,666 - 42,922,193 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_054799   ⟸   NM_014080
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9NR02 (UniProtKB/Swiss-Prot),   D2XI64 (UniProtKB/Swiss-Prot),   A8MQ13 (UniProtKB/Swiss-Prot),   Q9UHF9 (UniProtKB/Swiss-Prot),   Q9NRD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350640   ⟸   NM_001363711
- Peptide Label: isoform 2 precursor
- UniProtKB: X6RAN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000373691   ⟸   ENST00000389039
RefSeq Acc Id: ENSP00000475084   ⟸   ENST00000603300
Protein Domains
EF-hand   FAD-binding FR-type   Ferric oxidoreductase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRD8-F1-model_v2 AlphaFold Q9NRD8 1-1548 view protein structure

Promoters
RGD ID:7229355
Promoter ID:EPDNEW_H20421
Type:initiation region
Name:DUOX2_1
Description:dual oxidase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20423  EPDNEW_H20427  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381545,114,172 - 45,114,232EPDNEW
RGD ID:7229353
Promoter ID:EPDNEW_H20423
Type:initiation region
Name:DUOX2_2
Description:dual oxidase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20421  EPDNEW_H20427  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381545,114,606 - 45,114,666EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13273 AgrOrtholog
COSMIC DUOX2 COSMIC
Ensembl Genes ENSG00000140279 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389039 ENTREZGENE
  ENST00000389039.11 UniProtKB/TrEMBL
  ENST00000603300 ENTREZGENE
  ENST00000603300.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Translation factors UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140279 GTEx
HGNC ID HGNC:13273 ENTREZGENE
Human Proteome Map DUOX2 Human Proteome Map
InterPro DUOX_peroxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_FR_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe3_Rdtase_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe_red_NAD-bd_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FNR_nucleotide-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_animal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_sf_animal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Riboflavin_synthase-like_b-brl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50506 UniProtKB/Swiss-Prot
NCBI Gene 50506 ENTREZGENE
OMIM 606759 OMIM
PANTHER NADPH OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11972:SF67 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam An_peroxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD_binding_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferric_reduct UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_binding_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27517 PharmGKB
PRINTS ANPEROXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD_FR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEROXIDASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52343 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A8J1J7_HUMAN UniProtKB/TrEMBL
  A0A0A8J1X4_HUMAN UniProtKB/TrEMBL
  A0A0A8J2J0_HUMAN UniProtKB/TrEMBL
  A0A0A8J2L3_HUMAN UniProtKB/TrEMBL
  A0A3G5AJB3_HUMAN UniProtKB/TrEMBL
  A8MQ13 ENTREZGENE
  D2XI64 ENTREZGENE
  DUOX2_HUMAN UniProtKB/Swiss-Prot
  Q9NR02 ENTREZGENE
  Q9NRD8 ENTREZGENE
  Q9UHF9 ENTREZGENE
  S6B486_HUMAN UniProtKB/TrEMBL
  S6B490_HUMAN UniProtKB/TrEMBL
  S6BAQ5_HUMAN UniProtKB/TrEMBL
  S6BAQ9_HUMAN UniProtKB/TrEMBL
  S6BJ80_HUMAN UniProtKB/TrEMBL
  S6BJ83_HUMAN UniProtKB/TrEMBL
  S6BQ37_HUMAN UniProtKB/TrEMBL
  S6BQ40_HUMAN UniProtKB/TrEMBL
  S6CBA6_HUMAN UniProtKB/TrEMBL
  S6CBA9_HUMAN UniProtKB/TrEMBL
  X6RAN8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8MQ13 UniProtKB/Swiss-Prot
  D2XI64 UniProtKB/Swiss-Prot
  Q9NR02 UniProtKB/Swiss-Prot
  Q9UHF9 UniProtKB/Swiss-Prot