DHX32 — 458 ClinVar variants
All ClinVar germline DHX32 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 258 flagged for review →
3 Conflicting · 17 Benign · 1 Benign/Likely benign · 142 Likely benign · 295 Uncertain significance
Full DHX32 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 258
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 150
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DHX32 p.Ala251Val Uncertain significance Multiple submitters
- DHX32 p.Ala510Thr Uncertain significance Multiple submitters
- DHX32 p.Ala529Ser Uncertain significance Multiple submitters
- DHX32 p.Ala93Thr Uncertain significance Multiple submitters
- DHX32 p.Arg261His Uncertain significance Multiple submitters
- DHX32 p.Asn239Lys Uncertain significance Multiple submitters
- DHX32 p.Asn297His Uncertain significance Multiple submitters
- DHX32 p.Asn297Ile Uncertain significance Multiple submitters
- DHX32 p.Asp323Asn Uncertain significance Multiple submitters
- DHX32 p.Asp585Ala Uncertain significance Multiple submitters
- DHX32 p.Asp631Tyr Uncertain significance Multiple submitters
- DHX32 p.Cys329Arg Uncertain significance Multiple submitters
- DHX32 p.Gln422Glu Uncertain significance Multiple submitters
- DHX32 p.Gln695Glu Uncertain significance Multiple submitters
- DHX32 p.Gln728Glu Uncertain significance Multiple submitters
- DHX32 p.Glu155Lys Uncertain significance Multiple submitters
- DHX32 p.Glu663Gln Uncertain significance Multiple submitters
- DHX32 p.Glu731Gln Uncertain significance Multiple submitters
- DHX32 p.Glu731Val Uncertain significance Multiple submitters
- DHX32 p.Glu737Gln Uncertain significance Multiple submitters
- DHX32 p.Gly623Ser Uncertain significance Multiple submitters
- DHX32 p.His140Arg Uncertain significance Multiple submitters
- DHX32 p.His443Tyr Uncertain significance Multiple submitters
- DHX32 p.His521Arg Uncertain significance Multiple submitters
- DHX32 p.His643Arg Uncertain significance Multiple submitters
- DHX32 p.His643Tyr Uncertain significance Multiple submitters
- DHX32 p.Ile222Thr Uncertain significance Multiple submitters
- DHX32 p.Lys313Arg Uncertain significance Multiple submitters
- DHX32 p.Lys417Gln Uncertain significance Multiple submitters
- DHX32 p.Met729Ile Uncertain significance Multiple submitters
- DHX32 p.Ser12Phe Uncertain significance Multiple submitters
- DHX32 p.Ser178Arg Uncertain significance Multiple submitters
- DHX32 p.Ser394Leu Uncertain significance Multiple submitters
- DHX32 p.Thr741Asn Uncertain significance Multiple submitters
- DHX32 p.Tyr53Cys Uncertain significance Multiple submitters
- DHX32 p.Val130Leu Uncertain significance Multiple submitters
- DHX32 p.Val646Ile Uncertain significance Multiple submitters
- DHX32 p.Ala127Thr Uncertain significance Single submitter
- DHX32 p.Ala424Ser Uncertain significance Single submitter
- DHX32 p.Ala439Val Uncertain significance Single submitter
- DHX32 p.Ala589Thr Uncertain significance Single submitter
- DHX32 p.Arg16His Uncertain significance Single submitter
- DHX32 p.Arg190Ser Uncertain significance Single submitter
- DHX32 p.Arg261Ser Uncertain significance Single submitter
- DHX32 p.Arg739Ser Uncertain significance Single submitter
- DHX32 p.Asn299Ser Uncertain significance Single submitter
- DHX32 p.Asn425Ser Uncertain significance Single submitter
- DHX32 p.Asn517Asp Uncertain significance Single submitter
- DHX32 p.Asn637Ser Uncertain significance Single submitter
- DHX32 p.Asp23Tyr Uncertain significance Single submitter
- DHX32 p.Asp28Glu Uncertain significance Single submitter
- DHX32 p.Asp445Val Uncertain significance Single submitter
- DHX32 p.Asp585Asn Uncertain significance Single submitter
- DHX32 p.Cys152Arg Uncertain significance Single submitter
- DHX32 p.Cys161Arg Uncertain significance Single submitter
- DHX32 p.Cys35Phe Uncertain significance Single submitter
- DHX32 p.Cys35Ser Uncertain significance Single submitter
- DHX32 p.Cys35Tyr Uncertain significance Single submitter
- DHX32 p.Cys566Arg Uncertain significance Single submitter
- DHX32 p.Cys566Tyr Uncertain significance Single submitter
- DHX32 p.Cys730Phe Uncertain significance Single submitter
- DHX32 p.Cys740Gly Uncertain significance Single submitter
- DHX32 p.Cys740Ser Uncertain significance Single submitter
- DHX32 p.Gln252Lys Uncertain significance Single submitter
- DHX32 p.Gln457Pro Uncertain significance Single submitter
- DHX32 p.Gln695Lys Uncertain significance Single submitter
- DHX32 p.Glu314Asp Uncertain significance Single submitter
- DHX32 p.Glu324Lys Uncertain significance Single submitter
- DHX32 p.Glu326Gly Uncertain significance Single submitter
- DHX32 p.Glu386Asp Uncertain significance Single submitter
- DHX32 p.Glu460Gly Uncertain significance Single submitter
- DHX32 p.Glu731Ala Uncertain significance Single submitter
- DHX32 p.Glu731Asp Uncertain significance Single submitter
- DHX32 p.Gly199Arg Uncertain significance Single submitter
- DHX32 p.Gly295Val Uncertain significance Single submitter
- DHX32 p.Gly393Ser Uncertain significance Single submitter
- DHX32 p.Gly45Val Uncertain significance Single submitter
- DHX32 p.Gly525Ala Uncertain significance Single submitter
- DHX32 p.Gly5Arg Uncertain significance Single submitter
- DHX32 p.Gly634Arg Uncertain significance Single submitter
- DHX32 p.Gly636Val Uncertain significance Single submitter
- DHX32 p.Gly90Cys Uncertain significance Single submitter
- DHX32 p.Gly90Val Uncertain significance Single submitter
- DHX32 p.His119Asp Uncertain significance Single submitter
- DHX32 p.His220Arg Uncertain significance Single submitter
- DHX32 p.His241Gln Uncertain significance Single submitter
- DHX32 p.His524Tyr Uncertain significance Single submitter
- DHX32 p.Ile106Val Uncertain significance Single submitter
- DHX32 p.Ile182Val Uncertain significance Single submitter
- DHX32 p.Ile214Val Uncertain significance Single submitter
- DHX32 p.Ile259Val Uncertain significance Single submitter
- DHX32 p.Ile436Thr Uncertain significance Single submitter
- DHX32 p.Ile438Thr Uncertain significance Single submitter
- DHX32 p.Ile438Val Uncertain significance Single submitter
- DHX32 p.Ile479Met Uncertain significance Single submitter
- DHX32 p.Leu221Met Uncertain significance Single submitter
- DHX32 p.Leu22Pro Uncertain significance Single submitter
- DHX32 p.Leu318Ser Uncertain significance Single submitter
- DHX32 p.Leu495Val Uncertain significance Single submitter
- DHX32 p.Leu55Ile Uncertain significance Single submitter
- DHX32 p.Leu6Pro Uncertain significance Single submitter
- DHX32 p.Lys224Glu Uncertain significance Single submitter
- DHX32 p.Lys320Glu Uncertain significance Single submitter
- DHX32 p.Lys327Arg Uncertain significance Single submitter
- DHX32 p.Lys411Glu Uncertain significance Single submitter
- DHX32 p.Lys552Asn Uncertain significance Single submitter
- DHX32 p.Lys660Met Uncertain significance Single submitter
- DHX32 p.Lys669Asn Uncertain significance Single submitter
- DHX32 p.Met481Thr Uncertain significance Single submitter
- DHX32 p.Met512Leu Uncertain significance Single submitter
- DHX32 p.Phe278Leu Uncertain significance Single submitter
- DHX32 p.Phe345Ser Uncertain significance Single submitter
- DHX32 p.Pro19Leu Uncertain significance Single submitter
- DHX32 p.Pro19Ser Uncertain significance Single submitter
- DHX32 p.Pro9Leu Uncertain significance Single submitter
- DHX32 p.Ser11Phe Uncertain significance Single submitter
- DHX32 p.Ser178Asn Uncertain significance Single submitter
- DHX32 p.Ser217Thr Uncertain significance Single submitter
- DHX32 p.Ser223Asn Uncertain significance Single submitter
- DHX32 p.Ser24Phe Uncertain significance Single submitter
- DHX32 p.Ser349Cys Uncertain significance Single submitter
- DHX32 p.Ser349Gly Uncertain significance Single submitter
- DHX32 p.Ser381Arg Uncertain significance Single submitter
- DHX32 p.Ser381Asn Uncertain significance Single submitter
- DHX32 p.Ser410Thr Uncertain significance Single submitter
- DHX32 p.Ser549Asn Uncertain significance Single submitter
- DHX32 p.Ser653Cys Uncertain significance Single submitter
- DHX32 p.Thr325Ile Uncertain significance Single submitter
- DHX32 p.Thr414Met Uncertain significance Single submitter
- DHX32 p.Thr557Ile Uncertain significance Single submitter
- DHX32 p.Thr558Ser Uncertain significance Single submitter
- DHX32 p.Thr722Ala Uncertain significance Single submitter
- DHX32 p.Thr741Ile Uncertain significance Single submitter
- DHX32 p.Trp348Arg Uncertain significance Single submitter
- DHX32 p.Trp98Leu Uncertain significance Single submitter
- DHX32 p.Tyr17Cys Uncertain significance Single submitter
- DHX32 p.Tyr53Asp Uncertain significance Single submitter
- DHX32 p.Tyr602Cys Uncertain significance Single submitter
- DHX32 p.Tyr697Cys Uncertain significance Single submitter
- DHX32 p.Val130Met Uncertain significance Single submitter
- DHX32 p.Val196Met Uncertain significance Single submitter
- DHX32 p.Val204Ile Uncertain significance Single submitter
- DHX32 p.Val246Ala Uncertain significance Single submitter
- DHX32 p.Val352Ile Uncertain significance Single submitter
- DHX32 p.Val360Met Uncertain significance Single submitter
- DHX32 p.Val376Ile Uncertain significance Single submitter
- DHX32 p.Val513Leu Uncertain significance Single submitter
- DHX32 p.Val714Ala Uncertain significance Single submitter
- DHX32 p.Val95Leu Uncertain significance Single submitter
- DHX32 p.Val95Phe Uncertain significance Single submitter
Predictors split 105
The independent predictors disagree with each other — read with care.
- DHX32 p.Ala496Val Uncertain significance Multiple submitters
- DHX32 p.Ala529Pro Benign Multiple submitters
- DHX32 p.Ala619Thr Uncertain significance Multiple submitters
- DHX32 p.Arg129Gln Uncertain significance Multiple submitters
- DHX32 p.Arg261Cys Uncertain significance Multiple submitters
- DHX32 p.Arg572Cys Uncertain significance Multiple submitters
- DHX32 p.Asn448Lys Uncertain significance Multiple submitters
- DHX32 p.Asn473His Uncertain significance Multiple submitters
- DHX32 p.Asp26Asn Uncertain significance Multiple submitters
- DHX32 p.Asp715Tyr Uncertain significance Multiple submitters
- DHX32 p.Glu286Lys Uncertain significance Multiple submitters
- DHX32 p.Glu290Ala Uncertain significance Multiple submitters
- DHX32 p.Glu541Lys Uncertain significance Multiple submitters
- DHX32 p.Glu705Gln Uncertain significance Multiple submitters
- DHX32 p.Ile235Thr Uncertain significance Multiple submitters
- DHX32 p.Ile391Thr Uncertain significance Multiple submitters
- DHX32 p.Ile480Thr Uncertain significance Multiple submitters
- DHX32 p.Ile587Asn Uncertain significance Multiple submitters
- DHX32 p.Leu652Pro Uncertain significance Multiple submitters
- DHX32 p.Lys644Thr Uncertain significance Multiple submitters
- DHX32 p.Phe537Leu Uncertain significance Multiple submitters
- DHX32 p.Pro662Leu Uncertain significance Multiple submitters
- DHX32 p.Ser269Leu Uncertain significance Multiple submitters
- DHX32 p.Ser549Gly Uncertain significance Multiple submitters
- DHX32 p.Ser673Phe Uncertain significance Multiple submitters
- DHX32 p.Thr536Ile Uncertain significance Multiple submitters
- DHX32 p.Thr732Met Uncertain significance Multiple submitters
- DHX32 p.Val232Met Uncertain significance Multiple submitters
- DHX32 p.Val81Met Uncertain significance Multiple submitters
- DHX32 p.Ala580Val Uncertain significance Single submitter
- DHX32 p.Ala647Thr Uncertain significance Single submitter
- DHX32 p.Arg129Trp Uncertain significance Single submitter
- DHX32 p.Arg335Thr Uncertain significance Single submitter
- DHX32 p.Arg388Cys Uncertain significance Single submitter
- DHX32 p.Arg388His Uncertain significance Single submitter
- DHX32 p.Arg51Cys Uncertain significance Single submitter
- DHX32 p.Arg51His Uncertain significance Single submitter
- DHX32 p.Arg588Gln Uncertain significance Single submitter
- DHX32 p.Arg588Leu Uncertain significance Single submitter
- DHX32 p.Arg597Gln Uncertain significance Single submitter
- DHX32 p.Arg630Gln Uncertain significance Single submitter
- DHX32 p.Arg630Trp Uncertain significance Single submitter
- DHX32 p.Asn299Lys Uncertain significance Single submitter
- DHX32 p.Asn473Ser Uncertain significance Single submitter
- DHX32 p.Asn78Ser Uncertain significance Single submitter
- DHX32 p.Asp195Asn Uncertain significance Single submitter
- DHX32 p.Asp284Gly Uncertain significance Single submitter
- DHX32 p.Asp463Glu Uncertain significance Single submitter
- DHX32 p.Asp487Asn Uncertain significance Single submitter
- DHX32 p.Asp715His Uncertain significance Single submitter
- DHX32 p.Asp86Asn Uncertain significance Single submitter
- DHX32 p.Cys152Phe Uncertain significance Single submitter
- DHX32 p.Gln117Leu Uncertain significance Single submitter
- DHX32 p.Gln252Arg Uncertain significance Single submitter
- DHX32 p.Gln555Glu Uncertain significance Single submitter
- DHX32 p.Gln711His Uncertain significance Single submitter
- DHX32 p.Glu149Lys Uncertain significance Single submitter
- DHX32 p.Glu155Gly Uncertain significance Single submitter
- DHX32 p.Glu250Ala Uncertain significance Single submitter
- DHX32 p.Glu250Asp Uncertain significance Single submitter
- DHX32 p.Glu361Gln Uncertain significance Single submitter
- DHX32 p.Glu39Lys Uncertain significance Single submitter
- DHX32 p.Glu453Gly Uncertain significance Single submitter
- DHX32 p.Glu568Ala Uncertain significance Single submitter
- DHX32 p.Gly112Ser Likely benign Single submitter
- DHX32 p.Gly112Val Uncertain significance Single submitter
- DHX32 p.Gly303Arg Uncertain significance Single submitter
- DHX32 p.Ile222Ser Uncertain significance Single submitter
- DHX32 p.Ile391Phe Uncertain significance Single submitter
- DHX32 p.Leu126Phe Uncertain significance Single submitter
- DHX32 p.Leu200Phe Uncertain significance Single submitter
- DHX32 p.Leu211Val Uncertain significance Single submitter
- DHX32 p.Leu262Arg Uncertain significance Single submitter
- DHX32 p.Leu262Phe Uncertain significance Single submitter
- DHX32 p.Leu416Pro Uncertain significance Single submitter
- DHX32 p.Leu455Trp Uncertain significance Single submitter
- DHX32 p.Leu474Ile Uncertain significance Single submitter
- DHX32 p.Leu56Val Uncertain significance Single submitter
- DHX32 p.Leu592Ser Uncertain significance Single submitter
- DHX32 p.Leu614Arg Uncertain significance Single submitter
- DHX32 p.Leu641Val Uncertain significance Single submitter
- DHX32 p.Leu710Ile Uncertain significance Single submitter
- DHX32 p.Lys644Arg Uncertain significance Single submitter
- DHX32 p.Met413Val Uncertain significance Single submitter
- DHX32 p.Met447Lys Uncertain significance Single submitter
- DHX32 p.Met72Val Uncertain significance Single submitter
- DHX32 p.Phe148Leu Uncertain significance Single submitter
- DHX32 p.Phe519Ile Uncertain significance Single submitter
- DHX32 p.Pro368Leu Uncertain significance Single submitter
- DHX32 p.Pro368Ser Uncertain significance Single submitter
- DHX32 p.Pro601Leu Uncertain significance Single submitter
- DHX32 p.Pro651Leu Uncertain significance Single submitter
- DHX32 p.Ser374Leu Uncertain significance Single submitter
- DHX32 p.Ser374Trp Uncertain significance Single submitter
- DHX32 p.Ser704Gly Uncertain significance Single submitter
- DHX32 p.Ser706Asn Uncertain significance Single submitter
- DHX32 p.Thr514Lys Uncertain significance Single submitter
- DHX32 p.Val145Leu Uncertain significance Single submitter
- DHX32 p.Val181Ala Uncertain significance Single submitter
- DHX32 p.Val276Ile Uncertain significance Single submitter
- DHX32 p.Val307Ala Uncertain significance Single submitter
- DHX32 p.Val430Leu Uncertain significance Single submitter
- DHX32 p.Val567Leu Uncertain significance Single submitter
-
DHX32 p.Ile266Met
Uncertain significance
No assertion criteria
thyroid tumor
-
DHX32 p.Tyr228Cys
Uncertain significance
No assertion criteria
Abnormal circulating immunoglobulin concentration
All DHX32 variants
Conflicting classifications of pathogenicity 3
- p.Arg16Cys Single submitter ⚠
- p.Arg572His Single submitter ⚠
- p.Asn226Ser Single submitter ⚠
Benign 17
- p.Ala510= Multiple submitters
- p.Ala529Pro Multiple submitters ⚠
- p.Arg159= Multiple submitters
- p.Asn448= Multiple submitters
- p.Asp301Ala Multiple submitters
- p.Gly180= Multiple submitters
- p.Leu225= Multiple submitters
- p.Phe698= Multiple submitters
- p.Ser269= Multiple submitters
- c.282+11A>G Single submitter
- c.850-7del Single submitter
- c.850-7dup Single submitter
- p.Ile215= Single submitter
- p.Leu6Val Single submitter
- p.Pro368= Single submitter
- p.Thr557= Single submitter
- p.Tyr144= Single submitter
Benign/Likely benign 1
- c.1351+6C>T Multiple submitters
Likely benign 142
- p.Ala584= Multiple submitters
- c.1092+12T>C Single submitter
- c.1092+12T>G Single submitter
- c.1093-10C>T Single submitter
- c.1093-11T>C Single submitter
- c.1093-16_1093-15del Single submitter
- c.1093-7T>C Single submitter
- c.1192+16C>G Single submitter
- c.1192+18A>G Single submitter
- c.1192+20T>C Single submitter
- c.1193-8T>C Single submitter
- c.1351+12C>T Single submitter
- c.1351+18T>C Single submitter
- c.1352-19T>C Single submitter
- c.1352-20T>C Single submitter
- c.1352-24ATT[2] Single submitter
- c.1544-6T>C Single submitter
- c.1693+10T>G Single submitter
- c.1693+16G>A Single submitter
- c.1693+7G>A Single submitter
- c.1694-13C>T Single submitter
- c.1694-18del Single submitter
- c.1694-20T>C Single submitter
- c.1881+13G>T Single submitter
- c.1881+20C>T Single submitter
- c.1882-20T>C Single submitter
- c.1882-21_1882-18del Single submitter
- c.1882-7C>T Single submitter
- c.1882-9G>A Single submitter
- c.2063+12G>A Single submitter
- c.2063+17A>G Single submitter
- c.2063+19_2063+22del Single submitter
- c.2064-7_2064-4del Single submitter
- c.282+16A>G Single submitter
- c.283-10C>G Single submitter
- c.283-10C>T Single submitter
- c.283-4A>G Single submitter
- c.476+12G>T Single submitter
- c.476+14G>A Single submitter
- c.476+18A>C Single submitter
- c.476+18A>G Single submitter
- c.476+9G>T Single submitter
- c.477-9T>G Single submitter
- c.849+14_849+17del Single submitter
- c.849+15C>T Single submitter
- c.849+17C>G Single submitter
- c.850-13T>C Single submitter
- c.850-15T>G Single submitter
- c.850-16G>A Single submitter
- c.850-16G>T Single submitter
- c.850-6del Single submitter
- p.Ala100= Single submitter
- p.Ala131= Single submitter
- p.Ala280= Single submitter
- p.Ala424= Single submitter
- p.Ala496= Single submitter
- p.Ala619= Single submitter
- p.Arg129= Single submitter
- p.Arg371= Single submitter
- p.Arg630= Single submitter
- p.Arg679= Single submitter
- p.Arg739= Single submitter
- p.Asn154= Single submitter
- p.Asn231= Single submitter
- p.Asn373= Single submitter
- p.Asn675= Single submitter
- p.Asn700= Single submitter
- p.Asn724Lys Single submitter
- p.Asn74= Single submitter
- p.Asp323= Single submitter
- p.Asp461= Single submitter
- p.Asp573= Single submitter
- p.Asp585= Single submitter
- p.Asp86= Single submitter
- p.Cys103= Single submitter
- p.Cys533= Single submitter
- p.Gln695= Single submitter
- p.Glu141= Single submitter
- p.Glu282= Single submitter
- p.Glu31= Single submitter
- p.Glu36Asp Single submitter
- p.Glu460= Single submitter
- p.Glu604= Single submitter
- p.Glu611= Single submitter
- p.Gly112= Single submitter
- p.Gly112Ser Single submitter ⚠
- p.Gly143= Single submitter
- p.Gly273= Single submitter
- p.Gly343= Single submitter
- p.His110= Single submitter
- p.His539= Single submitter
- p.Ile146= Single submitter
- p.Ile387Thr Single submitter
- p.Ile479= Single submitter
- p.Ile598= Single submitter
- p.Ile80= Single submitter
- p.Leu126= Single submitter
- p.Leu158= Single submitter
- p.Leu176= Single submitter
- p.Leu211= Single submitter
- p.Leu302= Single submitter
- p.Leu305= Single submitter
- p.Leu318= Single submitter
- p.Leu322= Single submitter
- p.Leu375= Single submitter
- p.Leu38= Single submitter
- p.Leu459= Single submitter
- p.Leu46= Single submitter
- p.Leu465= Single submitter
- p.Leu591= Single submitter
- p.Leu592= Single submitter
- p.Leu666= Single submitter
- p.Lys224= Single submitter
- p.Lys240= Single submitter
- p.Lys287= Single submitter
- p.Lys725= Single submitter
- p.Phe175= Single submitter
- p.Phe625= Single submitter
- p.Pro174= Single submitter
- p.Pro418= Single submitter
- p.Pro516= Single submitter
- p.Pro703= Single submitter
- p.Pro719= Single submitter
- p.Ser217= Single submitter
- p.Ser349= Single submitter
- p.Ser383= Single submitter
- p.Ser394= Single submitter
- p.Ser475= Single submitter
- p.Ser49= Single submitter
- p.Ser491= Single submitter
- p.Ser622= Single submitter
- p.Ser70= Single submitter
- p.Ser92= Single submitter
- p.Thr325= Single submitter
- p.Thr414= Single submitter
- p.Thr732= Single submitter
- p.Thr736= Single submitter
- p.Tyr53= Single submitter
- p.Tyr551= Single submitter
- p.Val307= Single submitter
- p.Val714= Single submitter
- p.Val81= Single submitter
Uncertain significance 295
- p.Ala251Val Multiple submitters ⚠
- p.Ala496Val Multiple submitters ⚠
- p.Ala510Thr Multiple submitters ⚠
- p.Ala529Ser Multiple submitters ⚠
- p.Ala619Thr Multiple submitters ⚠
- p.Ala93Thr Multiple submitters ⚠
- p.Arg129Gln Multiple submitters ⚠
- p.Arg261Cys Multiple submitters ⚠
- p.Arg261His Multiple submitters ⚠
- p.Arg572Cys Multiple submitters ⚠
- p.Asn239Lys Multiple submitters ⚠
- p.Asn297His Multiple submitters ⚠
- p.Asn297Ile Multiple submitters ⚠
- p.Asn448Lys Multiple submitters ⚠
- p.Asn473His Multiple submitters ⚠
- p.Asp26Asn Multiple submitters ⚠
- p.Asp323Asn Multiple submitters ⚠
- p.Asp585Ala Multiple submitters ⚠
- p.Asp631Tyr Multiple submitters ⚠
- p.Asp715Tyr Multiple submitters ⚠
- p.Cys329Arg Multiple submitters ⚠
- p.Gln422Glu Multiple submitters ⚠
- p.Gln695Glu Multiple submitters ⚠
- p.Gln728Glu Multiple submitters ⚠
- p.Glu155Lys Multiple submitters ⚠
- p.Glu286Lys Multiple submitters ⚠
- p.Glu290Ala Multiple submitters ⚠
- p.Glu541Lys Multiple submitters ⚠
- p.Glu663Gln Multiple submitters ⚠
- p.Glu705Gln Multiple submitters ⚠
- p.Glu731Gln Multiple submitters ⚠
- p.Glu731Val Multiple submitters ⚠
- p.Glu737Gln Multiple submitters ⚠
- p.Gly623Ser Multiple submitters ⚠
- p.His140Arg Multiple submitters ⚠
- p.His443Tyr Multiple submitters ⚠
- p.His521Arg Multiple submitters ⚠
- p.His643Arg Multiple submitters ⚠
- p.His643Tyr Multiple submitters ⚠
- p.Ile222Thr Multiple submitters ⚠
- p.Ile235Thr Multiple submitters ⚠
- p.Ile391Thr Multiple submitters ⚠
- p.Ile480Thr Multiple submitters ⚠
- p.Ile587Asn Multiple submitters ⚠
- p.Leu652Pro Multiple submitters ⚠
- p.Lys313Arg Multiple submitters ⚠
- p.Lys417Gln Multiple submitters ⚠
- p.Lys644Thr Multiple submitters ⚠
- p.Met729Ile Multiple submitters ⚠
- p.Phe537Leu Multiple submitters ⚠
- p.Pro662Leu Multiple submitters ⚠
- p.Ser12Phe Multiple submitters ⚠
- p.Ser178Arg Multiple submitters ⚠
- p.Ser269Leu Multiple submitters ⚠
- p.Ser394Leu Multiple submitters ⚠
- p.Ser549Gly Multiple submitters ⚠
- p.Ser673Phe Multiple submitters ⚠
- p.Thr536Ile Multiple submitters ⚠
- p.Thr732Met Multiple submitters ⚠
- p.Thr741Asn Multiple submitters ⚠
- p.Tyr53Cys Multiple submitters ⚠
- p.Val130Leu Multiple submitters ⚠
- p.Val232Met Multiple submitters ⚠
- p.Val646Ile Multiple submitters ⚠
- p.Val81Met Multiple submitters ⚠
- c.1192+5T>C Single submitter
- c.1543+1G>T Single submitter
- c.1692_1693+2del Single submitter
- c.1693+6T>C Single submitter
- c.2063+1G>C Single submitter
- c.2063+6T>C Single submitter
- c.2064-14T>A Single submitter
- c.2064-8A>G Single submitter
- c.282+6T>C Single submitter
- c.476+3T>G Single submitter
- c.849+7A>G Single submitter
- c.850-3T>C Single submitter
- p.Ala127Thr Single submitter ⚠
- p.Ala424Ser Single submitter ⚠
- p.Ala439Val Single submitter ⚠
- p.Ala496_Ser497insTer Single submitter
- p.Ala510Val Single submitter
- p.Ala580Val Single submitter ⚠
- p.Ala589Thr Single submitter ⚠
- p.Ala647Thr Single submitter ⚠
- p.Arg129Trp Single submitter ⚠
- p.Arg16His Single submitter ⚠
- p.Arg190Ser Single submitter ⚠
- p.Arg261Ser Single submitter ⚠
- p.Arg328Ter Single submitter
- p.Arg335Thr Single submitter ⚠
- p.Arg388Cys Single submitter ⚠
- p.Arg388His Single submitter ⚠
- p.Arg51Cys Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Arg572del Single submitter
- p.Arg588Gln Single submitter ⚠
- p.Arg588Leu Single submitter ⚠
- p.Arg597Gln Single submitter ⚠
- p.Arg597Ter Single submitter
- p.Arg630Gln Single submitter ⚠
- p.Arg630Trp Single submitter ⚠
- p.Arg739Ile Single submitter
- p.Arg739Ser Single submitter ⚠
- p.Asn299fs Single submitter
- p.Asn299Lys Single submitter ⚠
- p.Asn299Ser Single submitter ⚠
- p.Asn425Ser Single submitter ⚠
- p.Asn473Ser Single submitter ⚠
- p.Asn517Asp Single submitter ⚠
- p.Asn637Ser Single submitter ⚠
- p.Asn78Ser Single submitter ⚠
- p.Asp164del Single submitter
- p.Asp195Asn Single submitter ⚠
- p.Asp203fs Single submitter
- p.Asp23Tyr Single submitter ⚠
- p.Asp284Gly Single submitter ⚠
- p.Asp28Glu Single submitter ⚠
- p.Asp445Val Single submitter ⚠
- p.Asp463Glu Single submitter ⚠
- p.Asp487Asn Single submitter ⚠
- p.Asp585Asn Single submitter ⚠
- p.Asp715His Single submitter ⚠
- p.Asp86Asn Single submitter ⚠
- p.Cys152Arg Single submitter ⚠
- p.Cys152Phe Single submitter ⚠
- p.Cys161Arg Single submitter ⚠
- p.Cys35Phe Single submitter ⚠
- p.Cys35Ser Single submitter ⚠
- p.Cys35Tyr Single submitter ⚠
- p.Cys566Arg Single submitter ⚠
- p.Cys566Tyr Single submitter ⚠
- p.Cys730Phe Single submitter ⚠
- p.Cys740Gly Single submitter ⚠
- p.Cys740Ser Single submitter ⚠
- p.Gln117Leu Single submitter ⚠
- p.Gln252Arg Single submitter ⚠
- p.Gln252Lys Single submitter ⚠
- p.Gln382Ter Single submitter
- p.Gln457Pro Single submitter ⚠
- p.Gln555Glu Single submitter ⚠
- p.Gln695Lys Single submitter ⚠
- p.Gln711His Single submitter ⚠
- p.Glu149Lys Single submitter ⚠
- p.Glu155Gly Single submitter ⚠
- p.Glu250Ala Single submitter ⚠
- p.Glu250Asp Single submitter ⚠
- p.Glu314Asp Single submitter ⚠
- p.Glu324Lys Single submitter ⚠
- p.Glu326Gly Single submitter ⚠
- p.Glu361Gln Single submitter ⚠
- p.Glu386Asp Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Glu453Gly Single submitter ⚠
- p.Glu460Gly Single submitter ⚠
- p.Glu483fs Single submitter
- p.Glu568Ala Single submitter ⚠
- p.Glu726fs Single submitter
- p.Glu731Ala Single submitter ⚠
- p.Glu731Asp Single submitter ⚠
- p.Gly112Val Single submitter ⚠
- p.Gly199Arg Single submitter ⚠
- p.Gly295Val Single submitter ⚠
- p.Gly303Arg Single submitter ⚠
- p.Gly393Ser Single submitter ⚠
- p.Gly45Val Single submitter ⚠
- p.Gly525Ala Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.Gly634Arg Single submitter ⚠
- p.Gly636Val Single submitter ⚠
- p.Gly90Cys Single submitter ⚠
- p.Gly90Val Single submitter ⚠
- p.His119Asp Single submitter ⚠
- p.His220Arg Single submitter ⚠
- p.His241Gln Single submitter ⚠
- p.His524Tyr Single submitter ⚠
- p.Ile106Val Single submitter ⚠
- p.Ile182Val Single submitter ⚠
- p.Ile214Val Single submitter ⚠
- p.Ile222Ser Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Ile391Phe Single submitter ⚠
- p.Ile436Thr Single submitter ⚠
- p.Ile438Thr Single submitter ⚠
- p.Ile438Val Single submitter ⚠
- p.Ile479Met Single submitter ⚠
- p.Ile480del Single submitter
- p.Leu126Phe Single submitter ⚠
- p.Leu200Phe Single submitter ⚠
- p.Leu211Val Single submitter ⚠
- p.Leu221Met Single submitter ⚠
- p.Leu22Pro Single submitter ⚠
- p.Leu262Arg Single submitter ⚠
- p.Leu262Phe Single submitter ⚠
- p.Leu318Ser Single submitter ⚠
- p.Leu416Pro Single submitter ⚠
- p.Leu455Trp Single submitter ⚠
- p.Leu474Ile Single submitter ⚠
- p.Leu495Val Single submitter ⚠
- p.Leu55Ile Single submitter ⚠
- p.Leu56Val Single submitter ⚠
- p.Leu592Ser Single submitter ⚠
- p.Leu614Arg Single submitter ⚠
- p.Leu641Val Single submitter ⚠
- p.Leu652fs Single submitter
- p.Leu6Pro Single submitter ⚠
- p.Leu710Ile Single submitter ⚠
- p.Lys224Glu Single submitter ⚠
- p.Lys320Glu Single submitter ⚠
- p.Lys327Arg Single submitter ⚠
- p.Lys411Glu Single submitter ⚠
- p.Lys552Asn Single submitter ⚠
- p.Lys644Arg Single submitter ⚠
- p.Lys660fs Single submitter
- p.Lys660Met Single submitter ⚠
- p.Lys669Asn Single submitter ⚠
- p.Met171fs Single submitter
- p.Met413Val Single submitter ⚠
- p.Met447Lys Single submitter ⚠
- p.Met481Thr Single submitter ⚠
- p.Met512fs Single submitter
- p.Met512Leu Single submitter ⚠
- p.Met72Val Single submitter ⚠
- p.Phe148Leu Single submitter ⚠
- p.Phe278Leu Single submitter ⚠
- p.Phe345Ser Single submitter ⚠
- p.Phe519Ile Single submitter ⚠
- p.Phe698fs Single submitter
- p.Pro19Leu Single submitter ⚠
- p.Pro19Ser Single submitter ⚠
- p.Pro368Leu Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro601Leu Single submitter ⚠
- p.Pro651Leu Single submitter ⚠
- p.Pro719fs Single submitter
- p.Pro9Leu Single submitter ⚠
- p.Ser11Phe Single submitter ⚠
- p.Ser178Asn Single submitter ⚠
- p.Ser217Thr Single submitter ⚠
- p.Ser223Asn Single submitter ⚠
- p.Ser24Phe Single submitter ⚠
- p.Ser349Cys Single submitter ⚠
- p.Ser349Gly Single submitter ⚠
- p.Ser374Leu Single submitter ⚠
- p.Ser374Trp Single submitter ⚠
- p.Ser381Arg Single submitter ⚠
- p.Ser381Asn Single submitter ⚠
- p.Ser397= Single submitter
- p.Ser397del Single submitter
- p.Ser410Thr Single submitter ⚠
- p.Ser428= Single submitter
- p.Ser549Asn Single submitter ⚠
- p.Ser653Cys Single submitter ⚠
- p.Ser704Gly Single submitter ⚠
- p.Ser706Asn Single submitter ⚠
- p.Ser721fs Single submitter
- p.Thr325Ile Single submitter ⚠
- p.Thr414Met Single submitter ⚠
- p.Thr514Lys Single submitter ⚠
- p.Thr557Ile Single submitter ⚠
- p.Thr558Ser Single submitter ⚠
- p.Thr722Ala Single submitter ⚠
- p.Thr741Ile Single submitter ⚠
- p.Trp348Arg Single submitter ⚠
- p.Trp570fs Single submitter
- p.Trp98Leu Single submitter ⚠
- p.Tyr17Cys Single submitter ⚠
- p.Tyr229del Single submitter
- p.Tyr247Ter Single submitter
- p.Tyr464fs Single submitter
- p.Tyr53Asp Single submitter ⚠
- p.Tyr602Cys Single submitter ⚠
- p.Tyr697Cys Single submitter ⚠
- p.Val130Met Single submitter ⚠
- p.Val145Leu Single submitter ⚠
- p.Val181Ala Single submitter ⚠
- p.Val196Met Single submitter ⚠
- p.Val204Ile Single submitter ⚠
- p.Val246Ala Single submitter ⚠
- p.Val276Ile Single submitter ⚠
- p.Val307Ala Single submitter ⚠
- p.Val337fs Single submitter
- p.Val352fs Single submitter
- p.Val352Ile Single submitter ⚠
- p.Val360Met Single submitter ⚠
- p.Val376Ile Single submitter ⚠
- p.Val430= Single submitter
- p.Val430Leu Single submitter ⚠
- p.Val513Leu Single submitter ⚠
- p.Val567Leu Single submitter ⚠
- p.Val714Ala Single submitter ⚠
- p.Val95Leu Single submitter ⚠
- p.Val95Phe Single submitter ⚠
- p.Ile266Met No assertion criteria thyroid tumor ⚠
- p.Tyr228Cys No assertion criteria Abnormal circulating immunoglobulin concentration ⚠