Total 211 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

7 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 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
DUOX2-related disorder
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Congenital hypothyroidism
Criteria Provided
Conflicting Classifications
CA116642 rs_119472029

7 SubmittersRCV000004280RCV001851637RCV003398443RCV005357071RCV006635237

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
Nongoitrous Euthyroid Hyperthyrotropinemia
Familial thyroid dyshormonogenesis
Condition: not provided
Inborn genetic diseases
DUOX2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA7538602 rs_191759494

9 SubmittersRCV000490324RCV000755103RCV000614180RCV001582720RCV002515593RCV003417764

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

8 SubmittersRCV000248134RCV001119591RCV001519288

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

14 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
DUOX2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA7537720 rs_143471358

8 SubmittersRCV000316680RCV000951320RCV002520962RCV003940229RCV003987506

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 not specified
Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7537517 rs_200785525

3 SubmittersRCV005407043RCV000395885RCV000889265

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
DUOX2-related disorder
Gastric cancer
Colon adenocarcinoma
not specified
Criteria Provided
Conflicting Classifications
CA7537735 rs_140663764

5 SubmittersRCV000262709RCV000889478RCV003930357RCV005893388RCV005893387RCV006701313

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.567C>T (p.His189=) SNV
Germline
Chr15:45111532 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7538902 rs_2467829

6 SubmittersRCV000372368RCV000883234RCV001699448

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

4 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
Thyroid dyshormonogenesis 6
Condition: not provided
DUOX2-related disorder
Thyroid dyshormonogenesis 6
Familial thyroid dyshormonogenesis
Thymoma
Congenital hypothyroidism
Criteria Provided
Conflicting Classifications
CA7538196 rs_181461079

15 SubmittersRCV000755100RCV000778436RCV000890156RCV003975299RCV005357982RCV005897275RCV006440083

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

4 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
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA7538936 rs_752635135

4 SubmittersRCV000791200RCV002535837RCV006663289

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

4 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

5 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
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Nonpapillary renal cell carcinoma
Adrenocortical carcinoma, hereditary
Colon adenocarcinoma
Colorectal cancer
Gastric cancer
Thyroid cancer, nonmedullary, 1
Lung cancer
Sarcoma
Ovarian serous cystadenocarcinoma
Cervical cancer
Criteria Provided
Conflicting Classifications
CA7538136 rs_112428007

5 SubmittersRCV000953337RCV001121401RCV005907862RCV005907852RCV005907864RCV005907856RCV005907853RCV005907854RCV005907851RCV005907857RCV005907859RCV005907861RCV005907863RCV005907858RCV005907860RCV005907855

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
not specified
Criteria Provided
Conflicting Classifications
CA7537664 rs_147945181

5 SubmittersRCV001119287RCV002069935RCV006443739RCV006702434

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

4 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
Congenital hypothyroidism
Condition: not provided
not specified
Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Criteria Provided
Conflicting Classifications
CA7538895 rs_2467827

8 SubmittersRCV001121591RCV001270330RCV001700700RCV002249732RCV005359871

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.514-14C>G SNV
Germline
Chr15:45111599 Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7538918 rs_533037683

3 SubmittersRCV001116712RCV004693719RCV006702433

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
Thyroid dyshormonogenesis 6
Familial thyroid dyshormonogenesis
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
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA7538464 rs_770083296

5 SubmittersRCV001972356RCV002497880RCV006727490

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

7 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

5 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

9 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

5 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 Thyroid dyshormonogenesis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7538035 rs_765438725

2 SubmittersRCV001823644RCV003574891

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

7 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

4 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

3 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.364C>A (p.Pro122Thr) SNV
Germline
Chr15:45111917 Likely pathogenic Condition: not provided
Thyroid dyshormonogenesis 6
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004786201RCV006696529

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

NM_001363711.2(DUOX2):c.4395+1G>C SNV
Germline
Chr15:45094935 Likely pathogenic Thyroid dyshormonogenesis 6 Criteria Provided
Single Submitter

1 SubmittersRCV006686349