Total 207 pathogenic variants reported for Thyroid dyshormonogenesis 6 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) SNV
Germline
Chr15:45108887 Pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA116636 rs_119472026

6 SubmittersRCV000004277RCV001386015RCV002512746

NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) SNV
Germline
Chr15:45106217 Pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA116638 rs_119472027

5 SubmittersRCV000004278RCV001268646RCV005357070

NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) SNV
Germline
Chr15:45104176 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA116640 rs_119472028

5 SubmittersRCV000004279RCV000627257RCV005364869

NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) SNV
Germline
Chr15:45109895 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
DUOX2-related disorder
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA116642 rs_119472029

6 SubmittersRCV000004280RCV001851637RCV003398443RCV005357071

NM_001363711.2(DUOX2):c.3847+2T>C SNV
Germline
Chr15:45097236 Conflicting classifications of pathogenicity Condition: not provided
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA199160 rs_199752932

4 SubmittersRCV001850409RCV004017451RCV005008093

NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) SNV
Germline
Chr15:45103961 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7538198 rs_199589510

3 SubmittersRCV000490414RCV001853383

NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) SNV
Germline
Chr15:45108159 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Familial thyroid dyshormonogenesis
Nongoitrous Euthyroid Hyperthyrotropinemia
Condition: not provided
Inborn genetic diseases
DUOX2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA7538602 rs_191759494

9 SubmittersRCV000490324RCV000614180RCV000755103RCV001582720RCV002515593RCV003417764

NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) SNV
Germline
Chr15:45110685 Conflicting classifications of pathogenicity not specified
Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538838 rs_151261408

7 SubmittersRCV000248134RCV001119591RCV001519288

NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) SNV
Germline
Chr15:45107450 Pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
DUOX2-related disorder
Thyroid dyshormonogenesis 6
Familial thyroid dyshormonogenesis
Gastric cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA7538552 rs_180671269

13 SubmittersRCV000329453RCV000779165RCV004751435RCV005355601RCV005895764

NM_001363711.2(DUOX2):c.4432C>T (p.Arg1478Trp) SNV
Germline
Chr15:45094655 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537512 rs_371970228

2 SubmittersRCV000360980RCV002520961

NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu) SNV
Germline
Chr15:45095859 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7537659 rs_140035596

4 SubmittersRCV000331780RCV002061182RCV005407044

NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) SNV
Germline
Chr15:45097255 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Inborn genetic diseases
not specified
DUOX2-related disorder
Criteria Provided
Conflicting Classifications
CA7537720 rs_143471358

8 SubmittersRCV000316680RCV000951320RCV002520962RCV003987506RCV003940229

NM_001363711.2(DUOX2):c.3127G>A (p.Val1043Met) SNV
Germline
Chr15:45100107 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7538002 rs_201263758

3 SubmittersRCV000313471RCV001435423RCV004021633

NM_001363711.2(DUOX2):c.2395C>T (p.Arg799Trp) SNV
Germline
Chr15:45104305 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538263 rs_200104538

2 SubmittersRCV000381160RCV000980562

NM_001363711.2(DUOX2):c.1911C>T (p.Ser637=) SNV
Germline
Chr15:45106562 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538453 rs_144100380

2 SubmittersRCV000361180RCV000913262

NM_001363711.2(DUOX2):c.953C>A (p.Pro318His) SNV
Germline
Chr15:45110515 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538801 rs_555083063

3 SubmittersRCV000329789RCV000903970

NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) SNV
Germline
Chr15:45094160 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537444 rs_201229193

6 SubmittersRCV000281763RCV000900310RCV005355639

NM_001363711.2(DUOX2):c.4408C>A (p.Arg1470=) SNV
Germline
Chr15:45094679 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7537517 rs_200785525

3 SubmittersRCV000395885RCV000889265RCV005407043

NM_001363711.2(DUOX2):c.4383G>A (p.Arg1461=) SNV
Germline
Chr15:45094948 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10641975 rs_886051190

2 SubmittersRCV000307622RCV002056458

NM_001363711.2(DUOX2):c.3483C>T (p.Ala1161=) SNV
Germline
Chr15:45099415 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537860 rs_567703268

3 SubmittersRCV000345731RCV000903969

NM_001363711.2(DUOX2):c.2335-8G>A SNV
Germline
Chr15:45104373 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538280 rs_532139907

2 SubmittersRCV000384678RCV002061183

NM_001363711.2(DUOX2):c.2212G>A (p.Val738Met) SNV
Germline
Chr15:45105765 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538326 rs_142350563

2 SubmittersRCV000335808RCV002522795

NM_001363711.2(DUOX2):c.513+8G>C SNV
Germline
Chr15:45111760 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10642009 rs_886051196

2 SubmittersRCV000405396RCV003688838

NM_001363711.2(DUOX2):c.325+13G>C SNV
Germline
Chr15:45112541 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7539022 rs_201514147

2 SubmittersRCV000309464RCV003765833

NM_001363711.2(DUOX2):c.4098G>A (p.Pro1366=) SNV
Germline
Chr15:45095578 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537620 rs_150609056

3 SubmittersRCV000274296RCV000908422

NM_001363711.2(DUOX2):c.3759G>A (p.Pro1253=) SNV
Germline
Chr15:45097326 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Gastric cancer
DUOX2-related disorder
Colon adenocarcinoma
Criteria Provided
Conflicting Classifications
CA7537735 rs_140663764

4 SubmittersRCV000262709RCV000889478RCV005893388RCV003930357RCV005893387

NM_001363711.2(DUOX2):c.3558C>T (p.Thr1186=) SNV
Germline
Chr15:45098016 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537824 rs_140393165

2 SubmittersRCV000376628RCV000913261

NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) SNV
Germline
Chr15:45099845 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7537954 rs_147772932

3 SubmittersRCV000348444RCV000909110RCV003230475

NM_001363711.2(DUOX2):c.3081G>A (p.Lys1027=) SNV
Germline
Chr15:45100153 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
DUOX2-related disorder
Criteria Provided
Conflicting Classifications
CA7538018 rs_78876145

4 SubmittersRCV000259468RCV000971628RCV003910192

NM_001363711.2(DUOX2):c.3041C>T (p.Ala1014Val) SNV
Germline
Chr15:45100193 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538033 rs_144759209

2 SubmittersRCV000355380RCV001403250

NM_001363711.2(DUOX2):c.2676C>A (p.Asn892Lys) SNV
Germline
Chr15:45101968 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538177 rs_144774906

2 SubmittersRCV000377615RCV000910655

NM_001363711.2(DUOX2):c.2544G>C (p.Leu848=) SNV
Germline
Chr15:45104156 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7538237 rs_139095108

6 SubmittersRCV000324152RCV000971944RCV001699309

NM_001363711.2(DUOX2):c.2335-3C>T SNV
Germline
Chr15:45104368 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538279 rs_369394906

3 SubmittersRCV000346393RCV000441807RCV002056462

NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) SNV
Germline
Chr15:45106838 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538492 rs_201221237

8 SubmittersRCV000268672RCV001092503RCV005365246

NM_001363711.2(DUOX2):c.326-5C>T SNV
Germline
Chr15:45111960 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538990 rs_200837051

2 SubmittersRCV000396030RCV001859892

NM_001363711.2(DUOX2):c.243G>A (p.Pro81=) SNV
Germline
Chr15:45112636 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
DUOX2-related disorder
Criteria Provided
Conflicting Classifications
CA7539060 rs_369158930

3 SubmittersRCV000274338RCV000884080RCV003940230

NM_001363711.2(DUOX2):c.3531G>T (p.Gln1177His) SNV
Germline
Chr15:45098043 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537833 rs_144254445

2 SubmittersRCV000285019RCV002056459

NM_001363711.2(DUOX2):c.2703C>A (p.Ala901=) SNV
Germline
Chr15:45101941 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538170 rs_149413147

2 SubmittersRCV000320642RCV002056460

NM_001363711.2(DUOX2):c.2394G>A (p.Val798=) SNV
Germline
Chr15:45104306 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538264 rs_61753432

2 SubmittersRCV000289068RCV002056461

NM_001363711.2(DUOX2):c.2148+10G>A SNV
Germline
Chr15:45106115 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538372 rs_745702141

2 SubmittersRCV000394170RCV000884078

NM_001363711.2(DUOX2):c.943+10C>A SNV
Germline
Chr15:45110640 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10647033 rs_545715198

2 SubmittersRCV000295357RCV003765832

NM_001363711.2(DUOX2):c.3416-2A>C SNV
Germline
Chr15:45099484 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537871 rs_758000012

3 SubmittersRCV000435690RCV005869428

NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) SNV
Germline
Chr15:45099748 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537915 rs_368488511

6 SubmittersRCV000482059RCV002250638

NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) SNV
Germline
Chr15:45106552 Conflicting classifications of pathogenicity not specified
Thyroid dyshormonogenesis 6
Condition: not provided
DUOX2-related disorder
Criteria Provided
Conflicting Classifications
CA7538449 rs_139161034

11 SubmittersRCV000485532RCV000765214RCV000954483RCV003401514

NM_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile) SNV
Germline
Chr15:45098015 Conflicting classifications of pathogenicity Inborn genetic diseases
Thyroid dyshormonogenesis 6
Condition: not provided
Congenital hypothyroidism
Criteria Provided
Conflicting Classifications
CA7537823 rs_138971379

6 SubmittersRCV000624876RCV001116394RCV001480879RCV006438507

NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) SNV
Germline
Chr15:45103960 Conflicting classifications of pathogenicity Nongoitrous Euthyroid Hyperthyrotropinemia
Condition: not provided
Thyroid dyshormonogenesis 6
DUOX2-related disorder
Thyroid dyshormonogenesis 6
Familial thyroid dyshormonogenesis
Thymoma
Congenital hypothyroidism
Criteria Provided
Conflicting Classifications
CA7538196 rs_181461079

14 SubmittersRCV000755100RCV000890156RCV000778436RCV003975299RCV005357982RCV005897275RCV006440083

NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) SNV
Germline
Chr15:45106327 Likely pathogenic Nongoitrous Euthyroid Hyperthyrotropinemia
Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7538418 rs_748793969

5 SubmittersRCV000755099RCV000778437RCV002533117

NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) SNV
Germline
Chr15:45099827 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7537948 rs_368975704

3 SubmittersRCV000778433RCV001042121

NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) SNV
Germline
Chr15:45100079 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Congenital hypothyroidism
Thyroid dyshormonogenesis 6
Familial thyroid dyshormonogenesis
not specified
Criteria Provided
Conflicting Classifications
CA7537995 rs_76343591

6 SubmittersRCV000898948RCV001266713RCV001270331RCV005367549RCV005240562

NM_001363711.2(DUOX2):c.513+1G>C SNV
Germline
Chr15:45111767 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7538936 rs_752635135

3 SubmittersRCV000791200RCV002535837

NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) SNV
Germline
Chr15:45101979 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538180 rs_376983373

3 SubmittersRCV000803878RCV002495090

NM_001363711.2(DUOX2):c.3435C>T (p.His1145=) SNV
Germline
Chr15:45099463 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
not specified
Criteria Provided
Conflicting Classifications
CA7537869 rs_150893514

4 SubmittersRCV000955491RCV001117840RCV006444762

NM_001363711.2(DUOX2):c.2835A>G (p.Gly945=) SNV
Germline
Chr15:45101809 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Melanoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Adrenocortical carcinoma, hereditary
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma
Ovarian serous cystadenocarcinoma
Colorectal cancer
Cervical cancer
Gastric cancer
Thyroid cancer, nonmedullary, 1
Lung cancer
Criteria Provided
Conflicting Classifications
CA7538136 rs_112428007

5 SubmittersRCV000953337RCV001121401RCV005907862RCV005907852RCV005907853RCV005907854RCV005907864RCV005907856RCV005907851RCV005907858RCV005907860RCV005907857RCV005907855RCV005907859RCV005907861RCV005907863

NM_001363711.2(DUOX2):c.3367G>A (p.Ala1123Thr) SNV
Germline
Chr15:45099710 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
DUOX2-related disorder
Criteria Provided
Conflicting Classifications
CA7537902 rs_113632824

3 SubmittersRCV000960794RCV001117842RCV004751839

NM_001363711.2(DUOX2):c.888C>T (p.Ile296=) SNV
Germline
Chr15:45110705 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
not specified
Criteria Provided
Conflicting Classifications
CA7538849 rs_144183694

3 SubmittersRCV000887447RCV001119592RCV006440387

NM_001363711.2(DUOX2):c.381G>A (p.Glu127=) SNV
Germline
Chr15:45111900 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538971 rs_569561856

2 SubmittersRCV000884079RCV001118154

NM_001363711.2(DUOX2):c.3185-9C>T SNV
Germline
Chr15:45099901 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
DUOX2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA7537966 rs_148813922

4 SubmittersRCV000880962RCV001119402RCV003955820RCV005432477

NM_001363711.2(DUOX2):c.514-4G>A SNV
Germline
Chr15:45111589 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538915 rs_374243549

4 SubmittersRCV000886236RCV001116711

NM_001363711.2(DUOX2):c.3615C>T (p.Phe1205=) SNV
Germline
Chr15:45097692 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537796 rs_201261436

3 SubmittersRCV000900660RCV001121310

NM_001363711.2(DUOX2):c.597G>C (p.Ser199=) SNV
Germline
Chr15:45111502 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
not specified
Criteria Provided
Conflicting Classifications
CA7538896 rs_2467828

5 SubmittersRCV000908967RCV001121592RCV001701248

NM_001363711.2(DUOX2):c.204T>G (p.Gly68=) SNV
Germline
Chr15:45112675 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7539071 rs_185014205

2 SubmittersRCV000904850RCV001119706

NM_001363711.2(DUOX2):c.4207T>A (p.Ser1403Thr) SNV
Germline
Chr15:45095469 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537605 rs_144186721

2 SubmittersRCV000913260RCV001117735

NM_001363711.2(DUOX2):c.3921C>T (p.Cys1307=) SNV
Germline
Chr15:45095987 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537689 rs_548949995

2 SubmittersRCV000918507RCV001119289

NM_001363711.2(DUOX2):c.3540T>C (p.Tyr1180=) SNV
Germline
Chr15:45098034 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537828 rs_745999464

2 SubmittersRCV000925764RCV001116395

NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn) SNV
Germline
Chr15:45108836 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538649 rs_139786814

3 SubmittersRCV000923070RCV001118047

NM_001363711.2(DUOX2):c.1197G>A (p.Ser399=) SNV
Germline
Chr15:45109561 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538701 rs_146745678

3 SubmittersRCV000923071RCV001118048

NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) SNV
Germline
Chr15:45106225 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Congenital hypothyroidism
Criteria Provided
Conflicting Classifications
CA7538397 rs_8028305

5 SubmittersRCV000929394RCV001121493RCV006442059

NM_001363711.2(DUOX2):c.414C>T (p.Pro138=) SNV
Germline
Chr15:45111867 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538961 rs_757849047

2 SubmittersRCV000930979RCV001116714

NM_001363711.2(DUOX2):c.4080+7G>A SNV
Germline
Chr15:45095821 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537649 rs_115310278

2 SubmittersRCV000957936RCV001117736

NM_001363711.2(DUOX2):c.4537G>A (p.Gly1513Arg) SNV
Germline
Chr15:45094260 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537472 rs_748262140

2 SubmittersRCV001121215RCV002558201

NM_001363711.2(DUOX2):c.4408C>T (p.Arg1470Trp) SNV
Germline
Chr15:45094679 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537516 rs_200785525

3 SubmittersRCV001116293RCV002556460

NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) SNV
Germline
Chr15:45095881 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Congenital hypothyroidism
Criteria Provided
Conflicting Classifications
CA7537664 rs_147945181

4 SubmittersRCV001119287RCV002069935RCV006443739

NM_001363711.2(DUOX2):c.3660G>A (p.Leu1220=) SNV
Germline
Chr15:45097647 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537778 rs_757964910

2 SubmittersRCV001121309RCV002069970

NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) SNV
Germline
Chr15:45099686 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537890 rs_147540920

4 SubmittersRCV001117841RCV001531203

NM_001363711.2(DUOX2):c.3297C>T (p.Leu1099=) SNV
Germline
Chr15:45099780 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537930 rs_752327099

2 SubmittersRCV001117843RCV002069902

NM_001363711.2(DUOX2):c.3179C>T (p.Ala1060Val) SNV
Germline
Chr15:45100055 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537987 rs_186021702

2 SubmittersRCV001119403RCV002069939

NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) SNV
Germline
Chr15:45100131 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Congenital hypothyroidism
Criteria Provided
Conflicting Classifications
CA7538011 rs_138774384

5 SubmittersRCV001119404RCV001464902RCV005236614RCV006437012

NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln) SNV
Germline
Chr15:45101220 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
DUOX2-related disorder
Criteria Provided
Conflicting Classifications
CA7538096 rs_146664125

3 SubmittersRCV001121400RCV001402830RCV003413924

NM_001363711.2(DUOX2):c.2634C>T (p.Asp878=) SNV
Germline
Chr15:45103980 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538201 rs_370762371

2 SubmittersRCV001116494RCV002069877

NM_001363711.2(DUOX2):c.2597T>G (p.Met866Arg) SNV
Germline
Chr15:45104017 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538206 rs_200948626

3 SubmittersRCV001116496RCV001306629

NM_001363711.2(DUOX2):c.2583T>A (p.Arg861=) SNV
Germline
Chr15:45104031 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538208 rs_144824844

2 SubmittersRCV001116497RCV003769153

NM_001363711.2(DUOX2):c.2427C>T (p.Ala809=) SNV
Germline
Chr15:45104273 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538253 rs_369335936

2 SubmittersRCV001117942RCV001856549

NM_001363711.2(DUOX2):c.2412C>T (p.Cys804=) SNV
Germline
Chr15:45104288 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7538257 rs_376911583

3 SubmittersRCV001117943RCV001441276RCV005432585

NM_001363711.2(DUOX2):c.1869G>A (p.Arg623=) SNV
Germline
Chr15:45106604 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA490331609 rs_1894220985

2 SubmittersRCV001116595RCV003708570

NM_001363711.2(DUOX2):c.1836T>C (p.Ser612=) SNV
Germline
Chr15:45106637 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7538475 rs_139688032

2 SubmittersRCV001116596RCV001488177

NM_001363711.2(DUOX2):c.1461G>T (p.Gly487=) SNV
Germline
Chr15:45108160 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
DUOX2-related disorder
Criteria Provided
Conflicting Classifications
CA7538604 rs_269860

3 SubmittersRCV001118045RCV001856552RCV003918702

NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) SNV
Germline
Chr15:45109569 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7538703 rs_200989933

4 SubmittersRCV001119588RCV001451380RCV003994215

NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) SNV
Germline
Chr15:45110509 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6 Criteria Provided
Conflicting Classifications
CA7538799 rs_544236153

3 SubmittersRCV001119590

NM_001363711.2(DUOX2):c.841C>T (p.Leu281=) SNV
Germline
Chr15:45111152 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
not specified
Criteria Provided
Conflicting Classifications
CA490332006 rs_1481616548

2 SubmittersRCV001121589RCV005408702

NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) SNV
Germline
Chr15:45111501 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Congenital hypothyroidism
not specified
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538895 rs_2467827

8 SubmittersRCV001121591RCV001700700RCV001270330RCV002249732RCV005359871

NM_001363711.2(DUOX2):c.4396-15C>T SNV
Germline
Chr15:45094706 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA969348472 rs_1893856377

2 SubmittersRCV001116295RCV003558678

NM_001363711.2(DUOX2):c.883-13C>G SNV
Germline
Chr15:45110723 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Malignant tumor of esophagus
Criteria Provided
Conflicting Classifications
CA7538851 rs_368847158

4 SubmittersRCV001119593RCV002556552RCV005236615RCV005913752

NM_001363711.2(DUOX2):c.70+15C>A SNV
Germline
Chr15:45113327 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7539149 rs_138005153

2 SubmittersRCV001121685RCV002069977

NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) SNV
Germline
Chr15:45108877 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7538659 rs_769796932

3 SubmittersRCV001170071RCV001873569

NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) SNV
Germline
Chr15:45110479 Likely pathogenic Thyroid dyshormonogenesis 6 No Assertion Criteria Provided
CA392278103 rs_778178479

1 SubmittersRCV001170072

NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) SNV
Germline
Chr15:45099749 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Congenital hypothyroidism
Criteria Provided
Multiple Submitters
No Conflicts
CA7537916 rs_531536885

7 SubmittersRCV001200099RCV003448376RCV005359926RCV006437018

NM_001363711.2(DUOX2):c.4081-1G>A SNV
Germline
Chr15:45095596 Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7537624 rs_549559724

2 SubmittersRCV001265561RCV003558777

NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) SNV
Germline
Chr15:45106600 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538464 rs_770083296

4 SubmittersRCV001972356RCV002497880

NM_001363711.2(DUOX2):c.3693+1G>T SNV
Germline
Chr15:45097613 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
DUOX2-related disorder
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7537771 rs_200717240

6 SubmittersRCV001376797RCV003485711RCV004751965RCV005361580

NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) SNV
Germline
Chr15:45106172 Pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538388 rs_201109959

3 SubmittersRCV001384045RCV001780331

NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) SNV
Germline
Chr15:45106954 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
not specified
Congenital hypothyroidism
Criteria Provided
Conflicting Classifications
CA7538513 rs_547116063

8 SubmittersRCV001505058RCV001732190RCV003490261RCV006443970

NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) SNV
Germline
Chr15:45094245 Pathogenic/Likely pathogenic Condition: not provided
DUOX2-related disorder
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7537468 rs_368512412

4 SubmittersRCV001583008RCV003966228RCV005005973

NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) SNV
Germline
Chr15:45097675 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537790 rs_141763307

4 SubmittersRCV001756680RCV002488512

NM_001363711.2(DUOX2):c.2921+2T>C SNV
Germline
Chr15:45101203 Pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter
CA392264975 rs_2141145828

1 SubmittersRCV001783164

NM_001363711.2(DUOX2):c.3006-2A>G SNV
Germline
Chr15:45100230 Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Colorectal cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA7538040 rs_371960046

5 SubmittersRCV001781007RCV002034588RCV005922462

NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) SNV
Germline
Chr15:45097620 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Multiple Submitters
No Conflicts
CA7537773 rs_753527559

2 SubmittersRCV001781009

NM_001363711.2(DUOX2):c.714C>A (p.Tyr238Ter) SNV
Germline
Chr15:45111385 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter
rs_779861023

1 SubmittersRCV005253261

NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) SNV
Germline
Chr15:45103979 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA7538200 rs_774556391

5 SubmittersRCV001781011RCV002034589RCV005330911

NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter) SNV
Germline
Chr15:45100201 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538035 rs_765438725

2 SubmittersRCV003574891RCV001823644

NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) SNV
Germline
Chr15:45109961 Conflicting classifications of pathogenicity not specified
Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538756 rs_766496010

4 SubmittersRCV001825123RCV002074386RCV003447603

NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) SNV
Germline
Chr15:45108892 Conflicting classifications of pathogenicity Condition: not provided
DUOX2-related disorder
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538665 rs_530736554

3 SubmittersRCV001877149RCV003434340RCV005006126

NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His) SNV
Germline
Chr15:45108074 Conflicting classifications of pathogenicity Condition: not provided
not specified
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538582 rs_143818717

3 SubmittersRCV001867203RCV003987917RCV005006103

NM_001363711.2(DUOX2):c.1606C>T (p.Arg536Ter) SNV
Germline
Chr15:45107432 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538548 rs_368967911

4 SubmittersRCV001920812RCV005002665

NM_001363711.2(DUOX2):c.1741C>T (p.Gln581Ter) SNV
Germline
Chr15:45106922 Pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538506 rs_778921174

2 SubmittersRCV001960752RCV005002717

NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His) SNV
Germline
Chr15:45101205 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538090 rs_778216481

3 SubmittersRCV001911417RCV002490196

NM_001363711.2(DUOX2):c.2335-1G>C SNV
Germline
Chr15:45104366 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538277 rs_758001307

2 SubmittersRCV001949376RCV003323962

NM_001363711.2(DUOX2):c.1153C>T (p.Gln385Ter) SNV
Germline
Chr15:45109605 Pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA392277250 rs_760186738

2 SubmittersRCV001899140RCV005638604

NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) SNV
Germline
Chr15:45103960 Pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538197 rs_181461079

6 SubmittersRCV001975058RCV002479588

NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) SNV
Germline
Chr15:45111776 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538940 rs_201590426

3 SubmittersRCV002027225RCV002486740

NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) SNV
Germline
Chr15:45108919 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538667 rs_201197899

3 SubmittersRCV002192274RCV003146508

NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter) SNV
Germline
Chr15:45100173 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Colon adenocarcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA7538025 rs_147452041

4 SubmittersRCV002467110RCV005002841RCV005931966

NM_001363711.2(DUOX2):c.4000C>T (p.Arg1334Trp) SNV
Germline
Chr15:45095908 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7537670 rs_200541410

3 SubmittersRCV003058461RCV004796761

NM_001363711.2(DUOX2):c.3005+1G>T SNV
Germline
Chr15:45100754 Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA392264311 rs_1168089009

2 SubmittersRCV002579079RCV005002955

NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln) SNV
Germline
Chr15:45111775 Conflicting classifications of pathogenicity Condition: not provided
Thyroid dyshormonogenesis 6
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7538939 rs_753600344

3 SubmittersRCV003109080RCV003143581RCV005567454

NM_001363711.2(DUOX2):c.944-2A>T SNV
Germline
Chr15:45110526 Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA270132969 rs_1047718058

2 SubmittersRCV003043575RCV005010886

NM_001363711.2(DUOX2):c.3240C>T (p.Ile1080=) SNV
Germline
Chr15:45099837 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537950 rs_753444593

2 SubmittersRCV003146875RCV003708732

NM_001363711.2(DUOX2):c.4326G>A (p.Gln1442=) SNV
Germline
Chr15:45095005 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA490215619 rs_1388868629

2 SubmittersRCV003146878RCV003730409

NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter) SNV
Germline
Chr15:45104272 Pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA392269717 rs_375229316

2 SubmittersRCV003331938RCV003561307

NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter) SNV
Germline
Chr15:45111824 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA392279273 rs_2504785818

2 SubmittersRCV003388745RCV003708786

NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter) SNV
Germline
Chr15:45100158 Pathogenic/Likely pathogenic DUOX2-related disorder
Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA270123335 rs_935436918

3 SubmittersRCV003394351RCV003553931RCV005003064

NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr) SNV
Germline
Chr15:45113020 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7539125 rs_747270555

2 SubmittersRCV003447807RCV005100104

NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter) SNV
Germline
Chr15:45106955 Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA392274433 rs_1332668133

4 SubmittersRCV003486077RCV003779242

NM_001363711.2(DUOX2):c.2413G>T (p.Glu805Ter) SNV
Germline
Chr15:45104287 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA392269748 rs_756995727

2 SubmittersRCV003549649RCV005003656

NM_001363711.2(DUOX2):c.2202G>A (p.Trp734Ter) SNV
Germline
Chr15:45105775 Pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538329 rs_769789467

2 SubmittersRCV003559848RCV005003671

NM_001363711.2(DUOX2):c.1275T>G (p.Tyr425Ter) SNV
Germline
Chr15:45108912 Pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7538666 rs_761385278

2 SubmittersRCV003559853RCV005013038

NM_001363711.2(DUOX2):c.4239+1G>A SNV
Germline
Chr15:45095436 Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA392251035 rs_2504738840

2 SubmittersRCV003683557RCV005013092

NM_001363711.2(DUOX2):c.3085C>T (p.Gln1029Ter) SNV
Germline
Chr15:45100149 Pathogenic/Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA392263788 rs_1456557225

2 SubmittersRCV003711461RCV005003685

NM_001363711.2(DUOX2):c.943G>T (p.Gly315Ter) SNV
Germline
Chr15:45110650 Pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA392278206 rs_1466329686

2 SubmittersRCV003740026RCV005013172

NM_001363711.2(DUOX2):c.2560+2T>C SNV
Germline
Chr15:45104138 Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA270128105 rs_764013641

2 SubmittersRCV003863064RCV005013252

NM_001363711.2(DUOX2):c.1831+2T>G SNV
Germline
Chr15:45106830 Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA392274168 rs_1328924162

2 SubmittersRCV003869797RCV005013260

NM_001363711.2(DUOX2):c.4552G>C (p.Gly1518Arg) SNV
Germline
Chr15:45094245 Conflicting classifications of pathogenicity not specified
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004700167RCV005006503

NM_001363711.2(DUOX2):c.514-2A>G SNV
Germline
Chr15:45111587 Pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV004797116

NM_001363711.2(DUOX2):c.4524+1G>C SNV
Germline
Chr15:45094562 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV004800071

NM_001363711.2(DUOX2):c.4222C>T (p.Gln1408Ter) SNV
Germline
Chr15:45095454 Pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV004821369

NM_001363711.2(DUOX2):c.3862C>T (p.Gln1288Ter) SNV
Germline
Chr15:45096046 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009646

NM_001363711.2(DUOX2):c.3657G>A (p.Trp1219Ter) SNV
Germline
Chr15:45097650 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009647

NM_001363711.2(DUOX2):c.3540T>A (p.Tyr1180Ter) SNV
Germline
Chr15:45098034 Pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009648

NM_001363711.2(DUOX2):c.3391G>T (p.Ala1131Ser) SNV
Germline
Chr15:45099686 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009649

NM_001363711.2(DUOX2):c.3006-1G>C SNV
Germline
Chr15:45100229 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005005753

NM_001363711.2(DUOX2):c.2852-2A>G SNV
Germline
Chr15:45101276 Likely pathogenic Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005005754RCV005112590

NM_001363711.2(DUOX2):c.2201G>A (p.Trp734Ter) SNV
Germline
Chr15:45105776 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009652

NM_001363711.2(DUOX2):c.1519C>T (p.Gln507Ter) SNV
Germline
Chr15:45108102 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005005757

NM_001363711.2(DUOX2):c.1304A>G (p.Asp435Gly) SNV
Germline
Chr15:45108883 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005005760

NM_001363711.2(DUOX2):c.1242G>A (p.Trp414Ter) SNV
Germline
Chr15:45108945 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009653

NM_001363711.2(DUOX2):c.1131+1G>A SNV
Germline
Chr15:45109889 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009655

NM_001363711.2(DUOX2):c.979G>T (p.Glu327Ter) SNV
Germline
Chr15:45110489 Pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009656

NM_001363711.2(DUOX2):c.73A>C (p.Ser25Arg) SNV
Germline
Chr15:45113074 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005005761

NM_001363711.2(DUOX2):c.70+5G>C SNV
Germline
Chr15:45113337 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005009657

NM_001363711.2(DUOX2):c.3516-1G>A SNV
Germline
Chr15:45098059 Pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005229700

NM_001363711.2(DUOX2):c.4537G>C (p.Gly1513Arg) SNV
Germline
Chr15:45094260 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005238407

NM_001363711.2(DUOX2):c.3184+1G>A SNV
Germline
Chr15:45100049 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005253482

NM_001363711.2(DUOX2):c.1891C>T (p.Gln631Ter) SNV
Germline
Chr15:45106582 Likely pathogenic Thyroid dyshormonogenesis 6
Familial thyroid dyshormonogenesis
Criteria Provided
Single Submitter

1 SubmittersRCV005360423

NM_001363711.2(DUOX2):c.857G>A (p.Arg286His) SNV
Germline
Chr15:45111136 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005408325

NM_001363711.2(DUOX2):c.534G>T (p.Trp178Cys) SNV
Germline
Chr15:45111565 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005409322

NM_001363711.2(DUOX2):c.795G>A (p.Trp265Ter) SNV
Germline
Chr15:45111198 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005636373

NM_001363711.2(DUOX2):c.1219G>T (p.Val407Phe) SNV
Germline
Chr15:45109539 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV006266405