THRB — 346 ClinVar variants
All ClinVar germline THRB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
42 Pathogenic · 6 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 19 Conflicting · 75 Benign · 3 Benign/Likely benign · 19 Likely benign · 155 Uncertain significance
Full THRB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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 vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
- THRB p.Ile250Thr Likely pathogenic Multiple submitters
-
THRB p.Pro247Leu
Likely pathogenic
Single submitter
THRB-related disorder
-
THRB p.Glu326Gly
Likely pathogenic
No assertion criteria
thyroid hormone resistance, generalized, autosomal dominant
Predictors agree, ClinVar conflicts 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
THRB p.Ala268Asp
Conflicting
Single submitter
selective pituitary resistance to thyroid hormone
-
THRB p.Arg383Cys
Conflicting
Single submitter
hyperthyroidism
-
THRB p.Arg438Cys
Conflicting
Single submitter
neurodevelopmental disorder
-
THRB p.Asn4Ser
Conflicting
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Asp351Gly
Conflicting
Single submitter
THRB-related disorder
-
THRB p.Asp71Glu
Conflicting
Single submitter
THRB-related disorder
-
THRB p.Gln53His
Conflicting
Single submitter
Inborn genetic diseases
- THRB p.Glu333Lys Conflicting Single submitter
-
THRB p.Gly332Arg
Conflicting
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Gly344Arg
Conflicting
Single submitter
THRB-related disorder
-
THRB p.Gly345Val
Conflicting
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Leu346Ile
Conflicting
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Met310Val
Conflicting
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
- THRB p.Met313Val Conflicting Single submitter
-
THRB p.Pro452Ser
Conflicting
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Ser54Leu
Conflicting
Single submitter
Inborn genetic diseases
-
THRB p.Tyr321Cys
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- THRB p.Arg320Ser Uncertain significance Multiple submitters
- THRB p.Arg338Gln Uncertain significance Multiple submitters
-
THRB p.Asn343Lys
Uncertain significance
Multiple submitters
thyroid hormone resistance, generalized, autosomal dominant
- THRB p.Lys18Gln Uncertain significance Multiple submitters
-
THRB p.Lys50Gln
Uncertain significance
Multiple submitters
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Arg383Ser
Uncertain significance
Single submitter
THRB-related disorder
- THRB p.Arg429Trp Uncertain significance Single submitter
-
THRB p.Arg46Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Asp154Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Asp351Asn
Uncertain significance
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
- THRB p.Asp382Val Uncertain significance Single submitter
-
THRB p.Asp73Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Cys309Trp Uncertain significance Single submitter
- THRB p.Cys309Tyr Uncertain significance Single submitter
- THRB p.Cys36Tyr Uncertain significance Single submitter
- THRB p.Gln340Leu Uncertain significance Single submitter
- THRB p.Glu333Gly Uncertain significance Single submitter
-
THRB p.Glu404Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Glu457Asp Uncertain significance Single submitter
- THRB p.Glu457Lys Uncertain significance Single submitter
-
THRB p.Glu8Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Gly307Asp
Uncertain significance
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
- THRB p.Gly347Arg Uncertain significance Single submitter
- THRB p.Gly347Trp Uncertain significance Single submitter
- THRB p.Gly385Glu Uncertain significance Single submitter
-
THRB p.His57Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Ile122Val Uncertain significance Single submitter
-
THRB p.Leu11Val
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Leu266Trp Uncertain significance Single submitter
- THRB p.Leu341Pro Uncertain significance Single submitter
- THRB p.Leu456Phe Uncertain significance Single submitter
- THRB p.Leu456Ser Uncertain significance Single submitter
-
THRB p.Leu58Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Met358Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Met358Val
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Met442Arg Uncertain significance Single submitter
- THRB p.Phe354Cys Uncertain significance Single submitter
-
THRB p.Pro3Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Pro447Leu Uncertain significance Single submitter
- THRB p.Pro452Arg Uncertain significance Single submitter
-
THRB p.Pro452Thr
Uncertain significance
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
- THRB p.Ser359Phe Uncertain significance Single submitter
-
THRB p.Ser398Arg
Uncertain significance
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Ser65Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Thr176Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Thr327Ile Uncertain significance Single submitter
-
THRB p.Thr61Asn
Uncertain significance
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Thr85Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Tyr395Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Tyr406His
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Val109Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Val458Gly Uncertain significance Single submitter
-
THRB p.Arg243Gly
Uncertain significance
No assertion criteria
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Ile67Val
Uncertain significance
No assertion criteria
THRB-related disorder
Predictors split 26
The independent predictors disagree with each other — read with care.
-
THRB p.Arg438His
Pathogenic
Multiple submitters
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Glu217Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
THRB p.Glu248Gly
Uncertain significance
Multiple submitters
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Glu460Lys
Pathogenic/Likely pathogenic
Multiple submitters
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.His435Gln
Pathogenic
Multiple submitters
thyroid hormone resistance syndrome
-
THRB p.Met442Val
Likely pathogenic
Multiple submitters
THRB-related disorder
-
THRB p.Ala234Pro
Uncertain significance
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
- THRB p.Ala317Ser Likely pathogenic Single submitter
- THRB p.Asn343Thr Uncertain significance Single submitter
- THRB p.Asp461Gly Uncertain significance Single submitter
- THRB p.Cys446Gly Uncertain significance Single submitter
- THRB p.Glu445Asp Uncertain significance Single submitter
-
THRB p.Gly261Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.Gly261Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
THRB p.His435Arg
Likely pathogenic
Single submitter
THRB-related disorder
-
THRB p.His435Leu
Pathogenic
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Ile276Phe
Uncertain significance
Single submitter
thyroid hormone resistance, generalized, autosomal dominant
-
THRB p.Lys92Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- THRB p.Met310Leu Pathogenic Single submitter
-
THRB p.Met310Thr
Uncertain significance
Single submitter
generalized resistance to thyroid hormone
- THRB p.Phe451Leu Uncertain significance Single submitter
- THRB p.Ser270Asn Uncertain significance Single submitter
- THRB p.Thr157Lys Uncertain significance Single submitter
- THRB p.Val264Leu Uncertain significance Single submitter
- THRB p.Val264Phe Conflicting Single submitter
-
THRB p.Thr337Ala
Pathogenic
No assertion criteria
selective pituitary resistance to thyroid hormone
All THRB variants
Pathogenic 42
- p.Ala317Thr Multiple submitters thyroid hormone resistance syndrome
- p.Arg243Trp Multiple submitters hyperthyroidism
- p.Arg316His Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Arg320Cys Multiple submitters thyroid hormone resistance, generalized, autosomal recessive
- p.Arg338Trp Multiple submitters thyroid hormone resistance, generalized, autosomal recessive
- p.Arg438His Multiple submitters thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Gly345Ser Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.His435Gln Multiple submitters thyroid hormone resistance syndrome ⚠
- p.Met313Thr Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Pro453Ser Multiple submitters hyperthyroidism
- p.Pro453Thr Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Thr277Ile Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.283+1G>A Single submitter Macular dystrophy
- p.Arg23Ter Single submitter
- p.Cys434Ter Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Cys446Arg Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Gln340His Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.His435Leu Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Ile353Thr Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Ile431Met Single submitter hyperthyroidism
- p.Lys342Ile Single submitter
- p.Met310Leu Single submitter ⚠
- p.Met442_Lys443delinsIleTer Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Thr337del Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Thr448fs Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Ala436fs No assertion criteria selective pituitary resistance to thyroid hormone
- p.Arg320Leu No assertion criteria selective pituitary resistance to thyroid hormone
- p.Arg438fs No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Asp322His No assertion criteria generalized resistance to thyroid hormone
- p.Gly344Glu No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Gly345Arg No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Gly345Asp No assertion criteria generalized resistance to thyroid hormone
- p.Gly347Glu No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Leu450His No assertion criteria generalized resistance to thyroid hormone
- p.Leu450Phe No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Leu454fs No assertion criteria generalized resistance to thyroid hormone
- p.Lys443Glu No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Phe459Cys No assertion criteria generalized resistance to thyroid hormone
- p.Pro453His No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Ser314Phe No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Thr327Asn No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Thr337Ala No assertion criteria selective pituitary resistance to thyroid hormone ⚠
Pathogenic/Likely pathogenic 6
- p.Ala268Gly Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Arg320His Multiple submitters Inborn genetic diseases
- p.Arg383His Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Arg429Gln Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Glu460Lys Multiple submitters thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Pro453Ala Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
Likely pathogenic 27
- p.Glu449Ter Multiple submitters Inborn genetic diseases
- p.Ile250Thr Multiple submitters ⚠
- p.Met442Val Multiple submitters THRB-related disorder ⚠
- p.Pro453Asn Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Val349Met Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Val458Ala Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.1144+1G>T Single submitter THRB-related disorder
- p.Ala317Ser Single submitter ⚠
- p.Arg320Pro Single submitter hyperthyroidism
- p.Asp322Asn Single submitter hyperthyroidism
- p.Gly251Arg Single submitter
- p.Gly332Glu Single submitter thyroid hormone resistance syndrome
- p.His435Arg Single submitter THRB-related disorder ⚠
- p.Ile276del Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Ile431Thr Single submitter
- p.Leu341Val Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Leu450fs Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Lys306Thr Single submitter
- p.Met430del Single submitter
- p.Met442Thr Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Phe451Val Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Phe459Leu Single submitter
- p.Pro247Leu Single submitter THRB-related disorder ⚠
- p.Pro453Leu Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Glu326Gly No assertion criteria thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Gly345Cys No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Val349Glu No assertion criteria thyroid hormone resistance syndrome
Conflicting classifications of pathogenicity 19
- c.532+8G>C Single submitter
- p.Ala268Asp Single submitter selective pituitary resistance to thyroid hormone ⚠
- p.Arg383Cys Single submitter hyperthyroidism ⚠
- p.Arg438Cys Single submitter neurodevelopmental disorder ⚠
- p.Asn4Ser Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Asp351Gly Single submitter THRB-related disorder ⚠
- p.Asp71Glu Single submitter THRB-related disorder ⚠
- p.Gln53His Single submitter Inborn genetic diseases ⚠
- p.Glu333Lys Single submitter ⚠
- p.Gly332Arg Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Gly344Arg Single submitter THRB-related disorder ⚠
- p.Gly345Val Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Leu346Ile Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Met310Val Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Met313Val Single submitter ⚠
- p.Pro452Ser Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Ser54Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr321Cys Single submitter Inborn genetic diseases ⚠
- p.Val264Phe Single submitter ⚠
Benign 75
- c.1144+9G>A Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.385-36T>C Multiple submitters
- c.886-65T>A Multiple submitters
- c.*107G>C Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*1354A>G Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*195C>T Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*2882G>A Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*411A>G Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*454T>G Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*4988T>C Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*5352C>T Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*5367C>T Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*5684G>A Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*5728G>A Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*602G>C Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*670A>G Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.*730G>C Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Phe245= Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Phe417= Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Ser54= Multiple submitters
- c.22+312T>G Single submitter
- c.739-259CT[11] Single submitter
- c.739-259CT[15] Single submitter
- c.885+321A>G Single submitter
- c.886-245G>A Single submitter
- c.-42-241G>C Single submitter
- c.-42-242C>A Single submitter
- c.-42-304T>C Single submitter
- c.*1049G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1104T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1284A>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1334C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1375C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1409T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1561T>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1662T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1959C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2105T>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2144G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2316A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2346T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2347C>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2516A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2534G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2616T>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2637G>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2786G>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2912A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2976G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3017C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3143T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3163A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3292G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3357C>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3459C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3595G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*361G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3929G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4129C>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4189G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4205A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4340G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*468G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4762G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4796T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4824C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4917G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4975G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5262C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5429C>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5533G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5701A>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Leu290= Single submitter
- p.Thr48= Single submitter
- c.22+16del No assertion criteria
Benign/Likely benign 3
- p.Ala433= Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Ile59Val Multiple submitters thyroid hormone resistance, generalized, autosomal recessive
- c.22+4T>A No assertion criteria
Likely benign 19
- c.283+12T>C Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Ala375= Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- p.Arg23Gln Multiple submitters thyroid hormone resistance, generalized, autosomal dominant
- c.22+10T>A Single submitter
- c.23-19G>A Single submitter
- c.284-12625C>G Single submitter
- c.739-18C>T Single submitter
- c.*1372C>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1861A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4714T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Arg46His Single submitter thyroid hormone resistance, generalized, autosomal recessive
- p.Asp351= Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.His25= Single submitter
- p.Ser43= Single submitter
- p.Thr88= Single submitter
- p.Trp14Arg Single submitter
- p.Tyr119= Single submitter
- c.885+7A>T No assertion criteria THRB-related disorder
- p.Val349= No assertion criteria THRB-related disorder
Uncertain significance 155
- p.Arg320Ser Multiple submitters ⚠
- p.Arg338Gln Multiple submitters ⚠
- p.Asn343Lys Multiple submitters thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Glu217Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu248Gly Multiple submitters thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Lys18Gln Multiple submitters ⚠
- p.Lys50Gln Multiple submitters thyroid hormone resistance, generalized, autosomal dominant ⚠
- c.1145-5C>T Single submitter
- c.-229C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.-254G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.-258C>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.-261+5G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.-261+65743G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.-274G>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.-367G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.-393T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.-404T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1102G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1153C>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1173A>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1302A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1443T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1495G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1567C>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1582G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1658T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1802G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1866T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1905A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1958G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*1960G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*196G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2030T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2031A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2112T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2182T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2183C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2204C>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*227A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2332G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2341C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*243G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2445A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2632C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2637G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2856C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*2907G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*301G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3020G>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3047A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3055G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3155G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3219G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3288C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3572C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*368C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3813G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3911C>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*3981C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4033G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4033G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4055C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4434T>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4470T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4544T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4770G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4920A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4927G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*4996T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5122A>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5166G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5194A>G Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5247T>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5257C>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5295C>T Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5386G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5431T>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*5571G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*574G>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*602G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*688T>C Single submitter thyroid hormone resistance, generalized, autosomal dominant
- c.*693G>A Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Ala231= Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Ala234Pro Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Arg383Ser Single submitter THRB-related disorder ⚠
- p.Arg429Trp Single submitter ⚠
- p.Arg46Cys Single submitter Inborn genetic diseases ⚠
- p.Asn343Thr Single submitter ⚠
- p.Asp154Glu Single submitter Inborn genetic diseases ⚠
- p.Asp351Asn Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Asp382Val Single submitter ⚠
- p.Asp461Gly Single submitter ⚠
- p.Asp73Glu Single submitter Inborn genetic diseases ⚠
- p.Cys309Trp Single submitter ⚠
- p.Cys309Tyr Single submitter ⚠
- p.Cys36Tyr Single submitter ⚠
- p.Cys446Gly Single submitter ⚠
- p.Gln340Leu Single submitter ⚠
- p.Glu248del Single submitter
- p.Glu333Gly Single submitter ⚠
- p.Glu404Gly Single submitter Inborn genetic diseases ⚠
- p.Glu445Asp Single submitter ⚠
- p.Glu457Asp Single submitter ⚠
- p.Glu457Lys Single submitter ⚠
- p.Glu8Ala Single submitter Inborn genetic diseases ⚠
- p.Gly261Asp Single submitter Inborn genetic diseases ⚠
- p.Gly261Cys Single submitter Inborn genetic diseases ⚠
- p.Gly307Asp Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Gly347Arg Single submitter ⚠
- p.Gly347Trp Single submitter ⚠
- p.Gly385Glu Single submitter ⚠
- p.His42= Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.His57Gln Single submitter Inborn genetic diseases ⚠
- p.Ile122Val Single submitter ⚠
- p.Ile276Phe Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Leu11Val Single submitter Inborn genetic diseases ⚠
- p.Leu266Trp Single submitter ⚠
- p.Leu341Pro Single submitter ⚠
- p.Leu360= Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Leu450= Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Leu456Phe Single submitter ⚠
- p.Leu456Ser Single submitter ⚠
- p.Leu58Ile Single submitter Inborn genetic diseases ⚠
- p.Lys92Arg Single submitter Inborn genetic diseases ⚠
- p.Met1Val Single submitter
- p.Met310Thr Single submitter generalized resistance to thyroid hormone ⚠
- p.Met358Ile Single submitter Inborn genetic diseases ⚠
- p.Met358Val Single submitter Inborn genetic diseases ⚠
- p.Met442Arg Single submitter ⚠
- p.Phe354Cys Single submitter ⚠
- p.Phe451Leu Single submitter ⚠
- p.Pro247= Single submitter
- p.Pro3Leu Single submitter Inborn genetic diseases ⚠
- p.Pro447Leu Single submitter ⚠
- p.Pro452Arg Single submitter ⚠
- p.Pro452Thr Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Pro453Asp Single submitter
- p.Ser270Asn Single submitter ⚠
- p.Ser359Phe Single submitter ⚠
- p.Ser398Arg Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Ser65Thr Single submitter Inborn genetic diseases ⚠
- p.Thr157Lys Single submitter ⚠
- p.Thr176Lys Single submitter Inborn genetic diseases ⚠
- p.Thr327Ile Single submitter ⚠
- p.Thr61Asn Single submitter thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Thr85Ser Single submitter Inborn genetic diseases ⚠
- p.Trp27Ter Single submitter thyroid hormone resistance, generalized, autosomal dominant
- p.Tyr395Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr406His Single submitter Inborn genetic diseases ⚠
- p.Val109Leu Single submitter Inborn genetic diseases ⚠
- p.Val264Leu Single submitter ⚠
- p.Val458Gly Single submitter ⚠
- c.*4G>A No assertion criteria thyroid hormone resistance, generalized, autosomal dominant
- p.Arg243Gly No assertion criteria thyroid hormone resistance, generalized, autosomal dominant ⚠
- p.Ile67Val No assertion criteria THRB-related disorder ⚠