PAX8 — 238 ClinVar variants
All ClinVar germline PAX8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
11 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 17 Conflicting · 38 Benign · 6 Benign/Likely benign · 30 Likely benign · 123 Uncertain significance
Full PAX8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PAX8 p.Asn343Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PAX8 p.Gly384Ser
Conflicting
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Ser337Ala
Conflicting
Single submitter
Inborn genetic diseases
-
PAX8 p.Thr311Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PAX8 p.Thr370Met
Conflicting
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Val116Ile
Conflicting
Single submitter
hypothyroidism, congenital, nongoitrous, 2
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PAX8 p.Gln354Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX8 p.Gly11Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX8 p.Leu266Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX8 p.Met102Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX8 p.Pro252Ala
Uncertain significance
Multiple submitters
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Pro321His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX8 p.Pro437Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX8 p.Ala349Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX8 p.Ala416Thr Uncertain significance Single submitter
-
PAX8 p.Ala439Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Arg108Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX8 p.Arg33Cys Uncertain significance Single submitter
- PAX8 p.Arg49His Uncertain significance Single submitter
-
PAX8 p.Arg52Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Arg64Met
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Arg97Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX8 p.Asp109His Uncertain significance Single submitter
-
PAX8 p.Asp273Asn
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Asp300Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Asp94Asn
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Gln259His
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Gln333His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Gln333Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Glu313Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Glu313Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Gly338Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX8 p.Gly41Asp Uncertain significance Single submitter
-
PAX8 p.Gly63Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Gly78Ser
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
- PAX8 p.Gly93Ala Uncertain significance Single submitter
-
PAX8 p.His347Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Ile307Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Ile307Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Met366Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX8 p.Pro263Leu Uncertain significance Single submitter
-
PAX8 p.Pro312Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Pro312Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Pro321Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Pro346His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Pro346Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX8 p.Pro86Arg Uncertain significance Single submitter
-
PAX8 p.Ser154Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Ser201Asn
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Ser325Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Ser423Gly
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
- PAX8 p.Thr283Met Uncertain significance Single submitter
-
PAX8 p.Thr408Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX8 p.Val351Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
-
PAX8 p.Lys135Arg
Benign/Likely benign
Multiple submitters
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Phe329Leu
Benign/Likely benign
Multiple submitters
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Ser427Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX8 p.Thr158Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PAX8 p.Ala19Thr Uncertain significance Single submitter
-
PAX8 p.Arg224Cys
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Gln293His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Gly156Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX8 p.Gly382Arg
Likely benign
Single submitter
Inborn genetic diseases
-
PAX8 p.Gly397Arg
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Lys197Asn
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
-
PAX8 p.Lys308Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX8 p.Phe419Cys Uncertain significance Single submitter
-
PAX8 p.Pro2Leu
Uncertain significance
Single submitter
hypothyroidism, congenital, nongoitrous, 2
- PAX8 p.Trp417Cys Uncertain significance Single submitter
All PAX8 variants
Pathogenic 11
- p.Arg31His Multiple submitters PAX8-related disorder
- c.191+1G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Arg108Ter Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Arg133Trp No assertion criteria congenital hypothyroidism
- p.Cys57Tyr No assertion criteria hypothyroidism, congenital, nongoitrous, 2
- p.Gln40Pro No assertion criteria hypothyroidism, congenital, nongoitrous, 2
- p.Ile34Asn No assertion criteria congenital hypothyroidism
- p.Leu153fs No assertion criteria hypothyroidism, congenital, nongoitrous, 2
- p.Leu62Arg No assertion criteria hypothyroidism, congenital, nongoitrous, 2
- p.Ser48Phe No assertion criteria hypothyroidism, congenital, nongoitrous, 2
- p.Ser54Gly No assertion criteria hypothyroidism, congenital, nongoitrous, 2
Pathogenic/Likely pathogenic 2
- p.Arg133Gln Multiple submitters PAX8-related disorder
- p.Arg31Cys Multiple submitters hypothyroidism, congenital, nongoitrous, 2
Likely pathogenic 11
- c.898+1G>C Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Asp46Asn Single submitter
- p.Glu310Ter Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Glu313fs Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Glu90del Single submitter congenital hypothyroidism
- p.Gly69Ser Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Ser54Cys Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Thr68Ile Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Val35fs Single submitter PAX8-related disorder
- p.Lys80fs No assertion criteria hypothyroidism, congenital, nongoitrous, 2
- p.Ser79Phe No assertion criteria hypothyroidism, congenital, nongoitrous, 2
Conflicting classifications of pathogenicity 17
- c.1087+4C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.1189+15G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.479-6C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.898+11C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2276G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Arg43= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Asn343Ser Single submitter Inborn genetic diseases ⚠
- p.Gly384Ser Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Pro167= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Pro372= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Pro409= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Ser327= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Ser337Ala Single submitter Inborn genetic diseases ⚠
- p.Thr311Ser Single submitter Inborn genetic diseases ⚠
- p.Thr370Met Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Tyr295= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Val116Ile Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
Benign 38
- c.1189+138A>G Multiple submitters
- c.1189+229G>A Multiple submitters
- c.1190-107A>C Multiple submitters
- c.1190-181G>A Multiple submitters
- c.1276+215C>T Multiple submitters
- c.191+94C>T Multiple submitters
- c.25+197G>T Multiple submitters
- c.25+24T>C Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.389+101G>A Multiple submitters
- c.389+83T>C Multiple submitters
- c.390-103G>T Multiple submitters
- c.478+135G>A Multiple submitters
- c.479-29C>A Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.479-68C>T Multiple submitters
- c.778-119C>A Multiple submitters
- c.778-163C>T Multiple submitters
- c.778-212T>C Multiple submitters
- c.778-297G>A Multiple submitters
- c.898+195A>G Multiple submitters
- c.898+99G>A Multiple submitters
- c.899-185T>G Multiple submitters
- c.899-226G>C Multiple submitters
- c.*1000T>C Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.*1006A>C Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.*1044A>C Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.*1914C>G Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.*2146A>G Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.*2309A>G Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.*2478C>T Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- p.Ser381= Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.1088-337G>A Single submitter
- c.1088-353G>C Single submitter
- c.1190-127G>A Single submitter
- c.192-244A>G Single submitter
- c.479-119T>C Single submitter
- c.479-236_479-235del Single submitter
- p.Pro235= Single submitter
- p.Thr320= Single submitter
Benign/Likely benign 6
- c.*187A>G Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- p.Ala439= Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- p.Lys135Arg Multiple submitters hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Phe329Leu Multiple submitters hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Ser124= Multiple submitters
- p.Ser414= Multiple submitters hypothyroidism, congenital, nongoitrous, 2
Likely benign 30
- p.Arg72Gln Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- p.Pro25= Multiple submitters
- p.Ser350= Multiple submitters intellectual disability
- c.1087+5G>A Single submitter
- c.1189+429A>G Single submitter
- c.1189+462TGA[9] Single submitter
- c.1189+699C>T Single submitter
- c.1189+7A>G Single submitter
- c.1190-10C>T Single submitter
- c.1277-12dup Single submitter
- c.390-12T>C Single submitter
- c.478+16C>T Single submitter
- c.*627T>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Ala328= Single submitter
- p.Ala349= Single submitter Inborn genetic diseases
- p.Arg364Gln Single submitter Inborn genetic diseases
- p.Gln333= Single submitter Inborn genetic diseases
- p.Glu237Gln Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Glu399= Single submitter Inborn genetic diseases
- p.Gly368= Single submitter Inborn genetic diseases
- p.Gly382Arg Single submitter Inborn genetic diseases ⚠
- p.Pro312= Single submitter
- p.Ser325= Single submitter Inborn genetic diseases
- p.Ser337= Single submitter
- p.Thr291= Single submitter
- p.Thr356= Single submitter Inborn genetic diseases
- p.Thr370= Single submitter
- p.Thr380Ile Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Thr445Met Single submitter
- p.Tyr352= Single submitter Inborn genetic diseases
Uncertain significance 123
- c.*1765G>A Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.*290G>A Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- c.*845G>A Multiple submitters hypothyroidism, congenital, nongoitrous, 2
- p.Gln354Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly11Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu266Ser Multiple submitters Inborn genetic diseases ⚠
- p.Met102Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro252Ala Multiple submitters hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Pro321His Multiple submitters Inborn genetic diseases ⚠
- p.Pro409Arg Multiple submitters Inborn genetic diseases
- p.Pro437Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser427Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr158Met Multiple submitters Inborn genetic diseases ⚠
- c.1277-10A>G Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.191+6C>G Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.898+12G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.-75-4G>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1029G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1060C>G Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1066G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1186G>C Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1393A>G Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1457G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1490G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1807C>G Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1942C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*1977T>C Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2033C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2044G>C Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*204C>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2192C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2193G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2231C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2312G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2320G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2326A>G Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2368C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2409C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2475C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2517C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*2527A>G Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*343G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*368G>C Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*372C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*423C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*472C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*501C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*527G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*612G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*664T>C Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*697C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*703G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*708C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*764C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*766C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*789G>A Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*844C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*897C>T Single submitter hypothyroidism, congenital, nongoitrous, 2
- c.*938C>G Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Ala19Thr Single submitter ⚠
- p.Ala19Val Single submitter Inborn genetic diseases
- p.Ala349Pro Single submitter Inborn genetic diseases ⚠
- p.Ala416Thr Single submitter ⚠
- p.Ala439Val Single submitter Inborn genetic diseases ⚠
- p.Arg108= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Arg108Gln Single submitter Inborn genetic diseases ⚠
- p.Arg224Cys Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Arg33Cys Single submitter ⚠
- p.Arg49His Single submitter ⚠
- p.Arg52Cys Single submitter Inborn genetic diseases ⚠
- p.Arg64Met Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Arg97Cys Single submitter Inborn genetic diseases ⚠
- p.Asn119Asp Single submitter Inborn genetic diseases
- p.Asn99= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Asp109His Single submitter ⚠
- p.Asp273Asn Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Asp300Glu Single submitter Inborn genetic diseases ⚠
- p.Asp331Val Single submitter Inborn genetic diseases
- p.Asp94Asn Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Cys147= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Gln259His Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Gln293His Single submitter Inborn genetic diseases ⚠
- p.Gln333His Single submitter Inborn genetic diseases ⚠
- p.Gln333Pro Single submitter Inborn genetic diseases ⚠
- p.Glu313Asp Single submitter Inborn genetic diseases ⚠
- p.Glu313Val Single submitter Inborn genetic diseases ⚠
- p.Gly156Arg Single submitter Inborn genetic diseases ⚠
- p.Gly286= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Gly338Arg Single submitter Inborn genetic diseases ⚠
- p.Gly382fs Single submitter
- p.Gly397Arg Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Gly41Asp Single submitter ⚠
- p.Gly63Val Single submitter Inborn genetic diseases ⚠
- p.Gly78Ser Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Gly93Ala Single submitter ⚠
- p.His347Arg Single submitter Inborn genetic diseases ⚠
- p.Ile307Met Single submitter Inborn genetic diseases ⚠
- p.Ile307Thr Single submitter Inborn genetic diseases ⚠
- p.Leu425= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Lys197Asn Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Lys308Arg Single submitter Inborn genetic diseases ⚠
- p.Met366Ile Single submitter Inborn genetic diseases ⚠
- p.Phe419Cys Single submitter ⚠
- p.Pro263Leu Single submitter ⚠
- p.Pro27= Single submitter hypothyroidism, congenital, nongoitrous, 2
- p.Pro2Leu Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Pro312Arg Single submitter Inborn genetic diseases ⚠
- p.Pro312Ser Single submitter Inborn genetic diseases ⚠
- p.Pro321Ser Single submitter Inborn genetic diseases ⚠
- p.Pro346His Single submitter Inborn genetic diseases ⚠
- p.Pro346Ser Single submitter Inborn genetic diseases ⚠
- p.Pro86Arg Single submitter ⚠
- p.Ser154Asn Single submitter Inborn genetic diseases ⚠
- p.Ser201Asn Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Ser325Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser423Gly Single submitter hypothyroidism, congenital, nongoitrous, 2 ⚠
- p.Ser54_His55delinsArgAsn Single submitter
- p.Thr283Met Single submitter ⚠
- p.Thr408Asn Single submitter Inborn genetic diseases ⚠
- p.Trp417Cys Single submitter ⚠
- p.Val339fs Single submitter
- p.Val351Met Single submitter ⚠
- p.Val395= Single submitter hypothyroidism, congenital, nongoitrous, 2