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 Orthologs
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)
alpha-Zearalanol  (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)
cadmium dichloride  (EXP)
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)
lanthanum trichloride  (EXP)
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)
perfluorooctanoic acid  (ISO)
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:32863235   PMID:33488516   PMID:33628596   PMID:33631011   PMID:33651715   PMID:33748270   PMID:34564849  
PMID:34784249   PMID:35507000   PMID:35575683   PMID:35960091   PMID:36607642   PMID:37517801   PMID:38757580  


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 disorder [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 Familial thyroid dyshormonogenesis [RCV004017451]|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 disorder [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 disorder [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]
Chr15:45106240..45106241 [GRCh38]
Chr15:45398438 [GRCh37]
Chr15:45398438..45398439 [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]
Chr15:45111868..45111869 [GRCh38]
Chr15:45404066 [GRCh37]
Chr15:45404066..45404067 [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]
Chr15:45099877..45099878 [GRCh38]
Chr15:45392075 [GRCh37]
Chr15:45392075..45392076 [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 disorder [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 disorder [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 Inborn genetic diseases [RCV004021633]|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 disorder [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 disorder [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 disorder [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 disorder [RCV003909901]|Inborn genetic diseases [RCV004021057]|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]
Chr15:45093428..45093429 [GRCh38]
Chr15:45385626 [GRCh37]
Chr15:45385626..45385627 [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 disorder [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 disorder [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 Congenital hypothyroidism [RCV004017640]|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 disorder [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 disorder [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 disorder [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 disorder [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 disorder [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 disorder [RCV003938157]|Thyroid dyshormonogenesis 6 [RCV000779163]|not provided [RCV004588241] 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 disorder [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 disorder [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 disorder [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]|not specified [RCV003994215] 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 disorder [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 disorder [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 Inborn genetic diseases [RCV004045248]|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 disorder [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 Inborn genetic diseases [RCV004043736]|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 Inborn genetic diseases [RCV004045399]|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 Inborn genetic diseases [RCV004040388]|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 disorder [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 Inborn genetic diseases [RCV004046637]|not provided [RCV002017790] Chr15:45101206 [GRCh38]
Chr15:45393404 [GRCh37]
Chr15:15q21.1		 likely benign|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 Inborn genetic diseases [RCV004045222]|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 Inborn genetic diseases [RCV004039033]|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|conflicting interpretations of pathogenicity
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 disorder [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 disorder [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 disorder [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 disorder [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 disorder [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 See cases [RCV004584514]|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 Inborn genetic diseases [RCV004071923]|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 disorder [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 Inborn genetic diseases [RCV004067069]|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 Inborn genetic diseases [RCV004066776]|not provided [RCV002670999] Chr15:45106618 [GRCh38]
Chr15:45398816 [GRCh37]
Chr15:15q21.1		 likely benign|uncertain significance
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 disorder [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 disorder [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 Inborn genetic diseases [RCV004070413]|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 Inborn genetic diseases [RCV004070659]|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)