TPO — 815 ClinVar variants
All ClinVar germline TPO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →
54 Pathogenic · 14 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 47 Conflicting · 46 Benign · 20 Benign/Likely benign · 416 Likely benign · 168 Uncertain significance
Full TPO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 169
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 8
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TPO p.Arg648Gln
Pathogenic/Likely pathogenic
Multiple submitters
thyroid dyshormonogenesis 2A
-
TPO p.Arg665Gln
Likely pathogenic
Multiple submitters
thyroid dyshormonogenesis 2A
-
TPO p.Gly493Ser
Pathogenic
Multiple submitters
neurodevelopmental disorder
- TPO p.Arg602Cys Likely pathogenic Single submitter
-
TPO p.Gly387Arg
Likely pathogenic
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.His520Tyr
Likely pathogenic
Single submitter
thyroid dyshormonogenesis 2A
- TPO p.Thr561Met Likely pathogenic Single submitter
-
TPO p.Gly590Ser
Pathogenic
No assertion criteria
thyroid dyshormonogenesis 2A
Predictors agree, ClinVar conflicts 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TPO p.Ala432Thr
Conflicting
Single submitter
Inborn genetic diseases
-
TPO p.Ala495Thr
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg361Leu
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg438His
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg491His
Conflicting
Single submitter
congenital hypothyroidism
-
TPO p.Arg584Gln
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg584Trp
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg769Trp
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg846Trp
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Gln738Glu
Conflicting
Single submitter
Inborn genetic diseases
-
TPO p.Gly842Arg
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Pro906Leu
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Thr605Ser
Conflicting
Single submitter
Inborn genetic diseases
- TPO p.Trp671Leu Conflicting Single submitter
-
TPO p.Val748Met
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
Predictors lean, ClinVar uncertain 118
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TPO p.Ala148Val
Uncertain significance
Multiple submitters
thyroid dyshormonogenesis 2A
-
TPO p.Ala168Thr
Uncertain significance
Multiple submitters
thyroid dyshormonogenesis 2A
-
TPO p.Ala614Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPO p.Arg684His
Uncertain significance
Multiple submitters
thyroid dyshormonogenesis 2A
-
TPO p.Arg769Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPO p.Arg89Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPO p.Asn217Ser
Uncertain significance
Multiple submitters
TPO-related disorder
-
TPO p.Glu604Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPO p.Gly920Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPO p.Leu196Ser
Uncertain significance
Multiple submitters
thyroid dyshormonogenesis 2A
-
TPO p.Met137Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPO p.Pro70Ala
Uncertain significance
Multiple submitters
thyroid dyshormonogenesis 2A
-
TPO p.Val763Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPO p.Ala157Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ala242Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ala285Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ala346Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ala346Val
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Ala371Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ala423Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Ala426Glu Uncertain significance Single submitter
- TPO p.Ala437Glu Uncertain significance Single submitter
-
TPO p.Ala477Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Ala506Thr Uncertain significance Single submitter
- TPO p.Ala5Thr Uncertain significance Single submitter
-
TPO p.Ala619Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ala801Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ala804Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ala863Thr
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
- TPO p.Arg370His Uncertain significance Single submitter
-
TPO p.Arg438Cys
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg693Pro
Uncertain significance
Single submitter
TPO-related disorder
- TPO p.Arg815Thr Uncertain significance Single submitter
- TPO p.Arg836Thr Uncertain significance Single submitter
- TPO p.Arg843Lys Uncertain significance Single submitter
-
TPO p.Arg846Gln
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg875His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Arg908Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Asn149Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Asn160Asp Uncertain significance Single submitter
-
TPO p.Asn198Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Asn307Thr
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
- TPO p.Asp224Gly Uncertain significance Single submitter
-
TPO p.Asp238Tyr
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
- TPO p.Asp666Asn Uncertain significance Single submitter
- TPO p.Asp796Asn Uncertain significance Single submitter
-
TPO p.Asp834Asn
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
- TPO p.Cys269Ser Uncertain significance Single submitter
-
TPO p.Cys296Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Cys375Ser Uncertain significance Single submitter
-
TPO p.Cys742Arg
Uncertain significance
Single submitter
congenital hypothyroidism
- TPO p.Cys823Phe Uncertain significance Single submitter
- TPO p.Cys838Ser Uncertain significance Single submitter
- TPO p.Cys838Tyr Uncertain significance Single submitter
- TPO p.Gln446Glu Uncertain significance Single submitter
-
TPO p.Gln738Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Gln775Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Gln790Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Gln916His Uncertain significance Single submitter
- TPO p.Glu378Lys Uncertain significance Single submitter
-
TPO p.Glu830Lys
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Glu922Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Gly167Ser Uncertain significance Single submitter
-
TPO p.Gly26Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Gly302Asp
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Gly380Ser
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Gly442Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Gly583Cys
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Gly587Arg
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Gly820Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.His407Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.His899Tyr Uncertain significance Single submitter
-
TPO p.His927Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Ile850Val Uncertain significance Single submitter
-
TPO p.Leu147Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Leu391Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Leu538Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Leu73Pro Uncertain significance Single submitter
-
TPO p.Leu882Val
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Lys250Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Met137Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Met137Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Met13Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Met317Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Met727Ile
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
- TPO p.Phe390Tyr Uncertain significance Single submitter
-
TPO p.Phe643Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Phe643Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Pro164His
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Pro201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Pro203His
Uncertain significance
Single submitter
congenital hypothyroidism
-
TPO p.Pro268Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Pro313Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Pro313Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Pro388Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Pro845Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Pro892His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ser125Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ser249Thr
Uncertain significance
Single submitter
TPO-related disorder
-
TPO p.Ser345Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ser41Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ser429Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ser720Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Ser747Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Ser867Pro Uncertain significance Single submitter
- TPO p.Thr10Met Uncertain significance Single submitter
-
TPO p.Thr116Ala
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Thr116Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Thr16Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Thr321Ala Uncertain significance Single submitter
- TPO p.Thr321Asn Uncertain significance Single submitter
-
TPO p.Thr866Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Trp343Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Val367Met Uncertain significance Single submitter
-
TPO p.Val677Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Val839Ile Uncertain significance Single submitter
-
TPO p.Val847Met
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Asp834His
Uncertain significance
No assertion criteria
TPO-related disorder
Predictors split 28
The independent predictors disagree with each other — read with care.
-
TPO p.Arg206Gln
Uncertain significance
Multiple submitters
congenital hypothyroidism
-
TPO p.Glu673Lys
Uncertain significance
Multiple submitters
thyroid dyshormonogenesis 2A
-
TPO p.Ala278Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Ala576Val Uncertain significance Single submitter
-
TPO p.Ala654Val
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg225Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Arg412His
Likely pathogenic
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg540Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Arg602His Uncertain significance Single submitter
- TPO p.Arg602Leu Uncertain significance Single submitter
-
TPO p.Arg693Trp
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Arg762Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Asp223His
Uncertain significance
Single submitter
thyroid dyshormonogenesis 2A
- TPO p.Cys756Arg Pathogenic Single submitter
-
TPO p.Glu337Lys
Likely pathogenic
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Gly599Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Gly667Ser
Conflicting
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Ile539Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Ile657Thr Uncertain significance Single submitter
- TPO p.Leu364Pro Uncertain significance Single submitter
-
TPO p.Leu774Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Pro512Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Pro806Thr Uncertain significance Single submitter
-
TPO p.Pro807His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPO p.Thr16Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TPO p.Thr171Met Uncertain significance Single submitter
-
TPO p.Tyr772Cys
Likely pathogenic
Single submitter
thyroid dyshormonogenesis 2A
-
TPO p.Ile447Phe
Pathogenic
No assertion criteria
thyroid dyshormonogenesis 2A
All TPO variants
Pathogenic 54
- p.Cys808fs Multiple submitters thyroid dyshormonogenesis 2A
- p.Ala397fs Multiple submitters TPO-related disorder
- p.Arg540Ter Multiple submitters thyroid dyshormonogenesis 2A
- p.Arg665Trp Multiple submitters thyroid dyshormonogenesis 2A
- p.Arg89Ter Multiple submitters thyroid dyshormonogenesis 2A
- p.Glu17fs Multiple submitters congenital hypothyroidism
- p.Glu596Ter Multiple submitters congenital hypothyroidism
- p.Glu757Ter Multiple submitters congenital hypothyroidism
- p.Gly493Ser Multiple submitters neurodevelopmental disorder ⚠
- p.Leu831Ter Multiple submitters thyroid dyshormonogenesis 2A
- p.Tyr453Asp Multiple submitters congenital hypothyroidism
- p.Ala257fs Single submitter
- p.Ala489Thr Single submitter TPO-related disorder
- p.Ala801fs Single submitter
- p.Arg175Ter Single submitter
- p.Arg189Ter Single submitter
- p.Arg361fs Single submitter
- p.Arg456fs Single submitter
- p.Arg563fs Single submitter
- p.Asn217fs Single submitter
- p.Asp228fs Single submitter
- p.Cys756Arg Single submitter ⚠
- p.Cys825fs Single submitter
- p.Gln260fs Single submitter
- p.Gln260Ter Single submitter
- p.Gln266Ter Single submitter thyroid dyshormonogenesis 2A
- p.Gln435Ter Single submitter
- p.Gln446fs Single submitter thyroid dyshormonogenesis 2A
- p.Gln509Ter Single submitter
- p.Gln72Ter Single submitter thyroid dyshormonogenesis 2A
- p.Glu687Ter Single submitter
- p.Glu734fs Single submitter
- p.Gly256fs Single submitter thyroid dyshormonogenesis 2A
- p.Gly32Ter Single submitter
- p.Gly890fs Single submitter
- p.His805fs Single submitter
- p.Leu424fs Single submitter
- p.Leu529Ter Single submitter
- p.Leu573fs Single submitter
- p.Leu573Ter Single submitter
- p.Lys150fs Single submitter
- p.Phe200fs Single submitter
- p.Phe653fs Single submitter thyroid dyshormonogenesis 2A
- p.Pro379fs Single submitter
- p.Ser292Phe Single submitter thyroid dyshormonogenesis 2A
- p.Ser675fs Single submitter
- p.Trp428fs Single submitter
- p.Trp527Cys Single submitter
- p.Trp635Ter Single submitter
- p.Cys838fs No assertion criteria thyroid dyshormonogenesis 2A
- p.Gly590Ser No assertion criteria thyroid dyshormonogenesis 2A ⚠
- p.Ile447Phe No assertion criteria thyroid dyshormonogenesis 2A ⚠
- p.Phe289Ser No assertion criteria congenital hypothyroidism
- p.Pro499fs No assertion criteria thyroid dyshormonogenesis 2A
Pathogenic/Likely pathogenic 14
- c.1768+1G>A Multiple submitters
- p.Arg648Gln Multiple submitters thyroid dyshormonogenesis 2A ⚠
- p.Asn129fs Multiple submitters thyroid dyshormonogenesis 2A
- p.Asp224del Multiple submitters thyroid dyshormonogenesis 2A
- p.Cys808fs Multiple submitters TPO-related disorder
- p.Cys896Ter Multiple submitters thyroid dyshormonogenesis 2A
- p.Gln660Glu Multiple submitters congenital hypothyroidism
- p.Gln682Ter Multiple submitters thyroid dyshormonogenesis 2A
- p.Glu347Ter Multiple submitters thyroid dyshormonogenesis 2A
- p.Glu799Lys Multiple submitters thyroid dyshormonogenesis 2A
- p.Gly860Arg Multiple submitters thyroid dyshormonogenesis 2A
- p.Phe714fs Multiple submitters thyroid dyshormonogenesis 2A
- p.Trp873Ter Multiple submitters thyroid dyshormonogenesis 2A
- p.Tyr772fs Multiple submitters thyroid dyshormonogenesis 2A
Likely pathogenic 50
- c.482+1G>A Multiple submitters thyroid dyshormonogenesis 2A
- p.Arg665Gln Multiple submitters thyroid dyshormonogenesis 2A ⚠
- c.1262_1338+54del Single submitter
- c.1339-1G>T Single submitter
- c.1339-2A>G Single submitter
- c.1598-2A>C Single submitter thyroid dyshormonogenesis 2A
- c.1769-1G>T Single submitter
- c.179+1G>A Single submitter
- c.179+2T>C Single submitter thyroid dyshormonogenesis 2A
- c.2215+1G>A Single submitter
- c.2215+2T>C Single submitter
- c.2386+2T>G Single submitter
- c.2618+1G>T Single submitter thyroid dyshormonogenesis 2A
- c.2667_2748+4del Single submitter
- c.2749-1G>A Single submitter thyroid dyshormonogenesis 2A
- c.350-2A>C Single submitter
- c.483-1G>A Single submitter
- c.612+1G>A Single submitter
- c.613-1G>A Single submitter
- c.95-1G>C Single submitter
- p.Arg152Lys Single submitter thyroid dyshormonogenesis 2A
- p.Arg291Pro Single submitter TPO-related disorder
- p.Arg412His Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg602Cys Single submitter ⚠
- p.Asp585fs Single submitter thyroid dyshormonogenesis 2A
- p.Cys696_Asp697delinsTer Single submitter thyroid dyshormonogenesis 2A
- p.Cys825Arg Single submitter thyroid dyshormonogenesis 2A
- p.Gln246Ter Single submitter thyroid dyshormonogenesis 2A
- p.Glu337Lys Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Gly167fs Single submitter TPO-related disorder
- p.Gly387Arg Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Gly771Arg Single submitter thyroid dyshormonogenesis 2A
- p.His520Tyr Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Leu403fs Single submitter thyroid dyshormonogenesis 2A
- p.Lys898fs Single submitter thyroid dyshormonogenesis 2A
- p.Pro140fs Single submitter thyroid dyshormonogenesis 2A
- p.Ser120fs Single submitter
- p.Ser131Pro Single submitter thyroid dyshormonogenesis 2A
- p.Ser75fs Single submitter thyroid dyshormonogenesis 2A
- p.Ser84fs Single submitter thyroid dyshormonogenesis 2A
- p.Ser905Ter Single submitter
- p.Thr561Met Single submitter ⚠
- p.Tyr151Ter Single submitter thyroid dyshormonogenesis 2A
- p.Tyr181Ter Single submitter thyroid dyshormonogenesis 2A
- p.Tyr290Ter Single submitter thyroid dyshormonogenesis 2A
- p.Tyr772Cys Single submitter thyroid dyshormonogenesis 2A ⚠
- c.1768+1_1768+9dup No assertion criteria congenital hypothyroidism
- p.Asp240Gly No assertion criteria thyroid dyshormonogenesis 2A
- p.Gln916= No assertion criteria TPO-related disorder
- p.Leu349_Val352delinsPhe No assertion criteria TPO-related disorder
Conflicting classifications of pathogenicity 47
- c.2007-12C>T Single submitter thyroid dyshormonogenesis 2A
- c.2007-5T>C Single submitter thyroid dyshormonogenesis 2A
- c.2386+8C>G Single submitter thyroid dyshormonogenesis 2A
- c.2387-12T>C Single submitter thyroid dyshormonogenesis 2A
- c.2749-4G>A Single submitter thyroid dyshormonogenesis 2A
- c.612+15C>T Single submitter thyroid dyshormonogenesis 2A
- c.820-15C>T Single submitter thyroid dyshormonogenesis 2A
- c.94+13C>T Single submitter thyroid dyshormonogenesis 2A
- c.95-14A>G Single submitter thyroid dyshormonogenesis 2A
- c.95-4G>A Single submitter thyroid dyshormonogenesis 2A
- c.*63dup Single submitter thyroid dyshormonogenesis 2A
- p.Ala373= Single submitter thyroid dyshormonogenesis 2A
- p.Ala432Thr Single submitter Inborn genetic diseases ⚠
- p.Ala495Thr Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Ala812= Single submitter thyroid dyshormonogenesis 2A
- p.Ala901= Single submitter thyroid dyshormonogenesis 2A
- p.Ala909fs Single submitter
- p.Arg361Leu Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg438His Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg491His Single submitter congenital hypothyroidism ⚠
- p.Arg584Gln Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg584Trp Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg769Trp Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg846= Single submitter thyroid dyshormonogenesis 2A
- p.Arg846Trp Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg908fs Single submitter thyroid dyshormonogenesis 2A
- p.Asp633= Single submitter thyroid dyshormonogenesis 2A
- p.Asp833= Single submitter thyroid dyshormonogenesis 2A
- p.Gln738Glu Single submitter Inborn genetic diseases ⚠
- p.Gly167= Single submitter thyroid dyshormonogenesis 2A
- p.Gly667Ser Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Gly842Arg Single submitter thyroid dyshormonogenesis 2A ⚠
- p.His353= Single submitter thyroid dyshormonogenesis 2A
- p.His586= Single submitter thyroid dyshormonogenesis 2A
- p.Ile497= Single submitter thyroid dyshormonogenesis 2A
- p.Ile859= Single submitter thyroid dyshormonogenesis 2A
- p.Lys439= Single submitter thyroid dyshormonogenesis 2A
- p.Lys621= Single submitter thyroid dyshormonogenesis 2A
- p.Phe253= Single submitter thyroid dyshormonogenesis 2A
- p.Pro280= Single submitter thyroid dyshormonogenesis 2A
- p.Pro906Leu Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Ser747= Single submitter thyroid dyshormonogenesis 2A
- p.Thr10= Single submitter thyroid dyshormonogenesis 2A
- p.Thr605Ser Single submitter Inborn genetic diseases ⚠
- p.Trp671Leu Single submitter ⚠
- p.Val220= Single submitter thyroid dyshormonogenesis 2A
- p.Val748Met Single submitter thyroid dyshormonogenesis 2A ⚠
Benign 46
- c.1597+42T>C Multiple submitters
- c.1598-96T>C Multiple submitters
- c.1769-132A>G Multiple submitters
- c.180-47A>C Multiple submitters
- c.180-6C>A Multiple submitters thyroid dyshormonogenesis 2A
- c.2007-33C>T Multiple submitters
- c.2007-9_2007-7del Multiple submitters
- c.2215+16C>T Multiple submitters
- c.2215+5A>C Multiple submitters thyroid dyshormonogenesis 2A
- c.2386+128C>T Multiple submitters
- c.2387-17C>T Multiple submitters
- c.2619-219A>T Multiple submitters
- c.2748+122G>A Multiple submitters
- c.349+31C>T Multiple submitters
- c.482+143A>G Multiple submitters
- c.483-102A>G Multiple submitters
- c.613-42A>G Multiple submitters
- c.819+226G>T Multiple submitters
- c.819+243C>T Multiple submitters
- c.819+86A>G Multiple submitters
- c.95-196A>G Multiple submitters
- c.95-30G>A Multiple submitters
- c.-75A>G Multiple submitters thyroid dyshormonogenesis 2A
- c.*115G>T Multiple submitters thyroid dyshormonogenesis 2A
- c.*81C>G Multiple submitters thyroid dyshormonogenesis 2A
- p.Ala326= Multiple submitters
- p.Ala576= Multiple submitters thyroid dyshormonogenesis 2A
- c.1338+116C>T Single submitter
- c.1339-1147T>C Single submitter thyroid dyshormonogenesis 2A
- c.1597+205A>C Single submitter
- c.1598-212C>A Single submitter
- c.1768+306A>G Single submitter
- c.1769-236C>T Single submitter
- c.1769-277_1769-206del Single submitter
- c.1769-277T>C Single submitter
- c.179+206G>A Single submitter
- c.2006+324T>C Single submitter
- c.819+9del Single submitter
- c.820-182G>C Single submitter
- c.95-17G>A Single submitter
- p.Ala257Thr Single submitter
- p.Ala804= Single submitter
- p.Asp474= Single submitter
- p.Cys598= Single submitter
- p.Pro379Arg Single submitter
- p.Val847= Single submitter
Benign/Likely benign 20
- c.2006+20G>A Multiple submitters
- c.2519-17C>T Multiple submitters
- c.94+20C>T Multiple submitters
- p.Ala257Ser Multiple submitters thyroid dyshormonogenesis 2A
- p.Ala373Ser Multiple submitters thyroid dyshormonogenesis 2A
- p.Ala426Gly Multiple submitters thyroid dyshormonogenesis 2A
- p.Asn557= Multiple submitters
- p.Asp505= Multiple submitters
- p.Asp666= Multiple submitters thyroid dyshormonogenesis 2A
- p.Leu4= Multiple submitters thyroid dyshormonogenesis 2A
- p.Leu529= Multiple submitters
- p.Leu529Phe Multiple submitters thyroid dyshormonogenesis 2A
- p.Met706Val Multiple submitters thyroid dyshormonogenesis 2A
- p.Pro135His Multiple submitters thyroid dyshormonogenesis 2A
- p.Pro715= Multiple submitters thyroid dyshormonogenesis 2A
- p.Ser398Thr Multiple submitters thyroid dyshormonogenesis 2A
- p.Thr344= Multiple submitters thyroid dyshormonogenesis 2A
- p.Thr725Pro Multiple submitters thyroid dyshormonogenesis 2A
- p.Val618Met Multiple submitters thyroid dyshormonogenesis 2A
- p.Val847Ala Multiple submitters thyroid dyshormonogenesis 2A
Likely benign 416
Showing the top 300 by review status; the full set is in the sitemap.
- c.1597+12C>T Multiple submitters
- c.2215+19T>G Multiple submitters
- c.612+10C>T Multiple submitters
- p.Ala278= Multiple submitters
- p.Ala3Val Multiple submitters
- p.His809= Multiple submitters
- p.Leu403= Multiple submitters
- p.Leu417= Multiple submitters
- p.Ser24= Multiple submitters
- p.Thr480= Multiple submitters
- p.Ile859= Single submitter
- c.1338+16C>T Single submitter
- c.1338+20G>A Single submitter
- c.1338+21_1338+29del Single submitter
- c.1338+7G>A Single submitter
- c.1338+8G>A Single submitter
- c.1338+9G>A Single submitter
- c.1339-10A>G Single submitter
- c.1339-12C>G Single submitter
- c.1339-18C>T Single submitter
- c.1339-8C>G Single submitter
- c.1597+10T>C Single submitter
- c.1597+13G>A Single submitter
- c.1597+8_1597+11del Single submitter
- c.1597+9G>C Single submitter
- c.1598-11G>A Single submitter
- c.1598-14A>G Single submitter
- c.1598-18G>A Single submitter
- c.1598-19T>C Single submitter
- c.1768+16C>T Single submitter
- c.1768+17C>T Single submitter
- c.1768+18C>G Single submitter
- c.1768+20T>C Single submitter
- c.1768+9G>C Single submitter
- c.1769-15C>G Single submitter
- c.1769-19C>A Single submitter
- c.1769-7del Single submitter
- c.1769-8C>G Single submitter
- c.179+11C>T Single submitter
- c.179+12G>A Single submitter
- c.179+13G>A Single submitter
- c.179+18G>A Single submitter
- c.179+20C>T Single submitter
- c.180-15C>T Single submitter
- c.180-20A>G Single submitter
- c.180-6C>T Single submitter
- c.180-8T>G Single submitter
- c.2006+10T>C Single submitter
- c.2006+17A>C Single submitter
- c.2006+8C>T Single submitter
- c.2006+9C>T Single submitter
- c.2006+9del Single submitter
- c.2007-14C>T Single submitter
- c.2007-17T>C Single submitter
- c.2007-18C>A Single submitter
- c.2007-20_2007-17del Single submitter
- c.2215+10G>A Single submitter
- c.2215+10G>C Single submitter
- c.2215+11G>T Single submitter
- c.2215+15C>T Single submitter
- c.2215+16del Single submitter
- c.2215+20C>A Single submitter
- c.2215+20C>T Single submitter
- c.2215+9C>A Single submitter
- c.2215+9C>T Single submitter
- c.2216-12C>T Single submitter
- c.2216-5C>T Single submitter
- c.2386+11_2386+14del Single submitter
- c.2386+14T>A Single submitter
- c.2386+17A>C Single submitter
- c.2386+19G>A Single submitter
- c.2387-13G>A Single submitter
- c.2387-13G>T Single submitter
- c.2387-14T>C Single submitter
- c.2387-17C>A Single submitter
- c.2387-19G>C Single submitter
- c.2518+16T>C Single submitter
- c.2518+17C>G Single submitter
- c.2518+19C>G Single submitter
- c.2518+7C>T Single submitter
- c.2518+9G>A Single submitter
- c.2518+9G>T Single submitter
- c.2519-16T>C Single submitter
- c.2519-17C>G Single submitter
- c.2519-18C>A Single submitter
- c.2519-18C>G Single submitter
- c.2519-7G>A Single submitter
- c.2519-7G>T Single submitter
- c.2519-8T>C Single submitter
- c.2618+13C>T Single submitter
- c.2618+19G>T Single submitter
- c.2619-14C>T Single submitter
- c.2619-18G>T Single submitter
- c.2619-19G>A Single submitter
- c.2619-20T>C Single submitter
- c.2619-3077T>C Single submitter
- c.2619-3572_2619-3516del Single submitter
- c.2619-3592A>T Single submitter
- c.2619-5C>T Single submitter
- c.2619-9C>T Single submitter
- p.Gly897= Single submitter
- c.2748+17del Single submitter
- c.2748+18G>A Single submitter
- c.2748+18G>T Single submitter
- c.2748+20A>G Single submitter
- c.2748+7C>T Single submitter
- c.2749-12G>A Single submitter
- c.2749-16T>C Single submitter
- c.349+10G>T Single submitter
- c.349+12C>G Single submitter
- c.349+14C>T Single submitter
- c.349+19C>A Single submitter
- c.349+20C>G Single submitter
- c.349+9T>C Single submitter
- c.350-14C>T Single submitter
- c.350-18G>C Single submitter
- c.482+18T>C Single submitter
- c.483-14A>G Single submitter
- c.483-16dup Single submitter
- c.483-19C>T Single submitter
- c.483-7T>C Single submitter
- c.612+11A>C Single submitter
- c.612+16G>A Single submitter
- c.613-12_613-11del Single submitter
- c.613-14C>G Single submitter
- c.613-14C>T Single submitter
- c.613-16G>C Single submitter
- c.613-17G>A Single submitter
- c.613-18T>C Single submitter
- c.613-19_613-18del Single submitter
- c.613-5C>T Single submitter
- c.613-8C>T Single submitter
- c.819+16C>G Single submitter
- c.819+16C>T Single submitter
- c.819+17G>A Single submitter
- c.819+4A>C Single submitter
- c.820-12C>G Single submitter
- c.820-15C>A Single submitter
- c.820-16T>C Single submitter
- c.820-8G>T Single submitter
- c.94+15C>T Single submitter
- c.94+16A>G Single submitter
- c.94+17T>C Single submitter
- c.94+20C>A Single submitter
- c.94+7A>G Single submitter
- c.94+8G>A Single submitter
- c.95-17G>T Single submitter
- c.95-19G>A Single submitter
- c.95-5C>T Single submitter
- c.95-9G>A Single submitter
- c.*66_*106del Single submitter
- p.Ala100= Single submitter
- p.Ala148= Single submitter
- p.Ala232= Single submitter
- p.Ala242= Single submitter
- p.Ala251= Single submitter
- p.Ala281= Single submitter
- p.Ala294= Single submitter
- p.Ala3= Single submitter
- p.Ala303= Single submitter
- p.Ala346= Single submitter
- p.Ala354= Single submitter
- p.Ala371= Single submitter
- p.Ala376= Single submitter
- p.Ala392= Single submitter
- p.Ala418= Single submitter
- p.Ala419= Single submitter
- p.Ala420= Single submitter
- p.Ala423= Single submitter
- p.Ala432= Single submitter
- p.Ala437= Single submitter
- p.Ala443= Single submitter
- p.Ala488= Single submitter
- p.Ala522= Single submitter
- p.Ala619= Single submitter
- p.Ala731= Single submitter
- p.Ala801= Single submitter
- p.Ala810= Single submitter
- p.Ala826= Single submitter
- p.Ala826Thr Single submitter Inborn genetic diseases
- p.Ala909= Single submitter
- p.Ala919= Single submitter
- p.Arg152= Single submitter
- p.Arg210= Single submitter
- p.Arg225His Single submitter
- p.Arg279= Single submitter
- p.Arg341= Single submitter
- p.Arg355= Single submitter
- p.Arg370= Single submitter
- p.Arg38= Single submitter
- p.Arg396= Single submitter
- p.Arg412= Single submitter
- p.Arg451= Single submitter
- p.Arg502= Single submitter
- p.Arg503= Single submitter
- p.Arg602= Single submitter
- p.Arg646= Single submitter
- p.Arg665= Single submitter
- p.Arg684= Single submitter
- p.Arg761= Single submitter
- p.Arg762= Single submitter
- p.Arg872= Single submitter
- p.Asn144= Single submitter
- p.Asn198= Single submitter
- p.Asn307= Single submitter
- p.Asn318= Single submitter
- p.Asn483= Single submitter
- p.Asn698= Single submitter
- p.Asn798= Single submitter
- p.Asp162= Single submitter
- p.Asp183= Single submitter
- p.Asp325= Single submitter
- p.Asp358= Single submitter
- p.Asp431= Single submitter
- p.Asp513= Single submitter
- p.Asp585= Single submitter
- p.Asp624= Single submitter
- p.Asp630= Single submitter
- p.Asp668= Single submitter
- p.Asp739= Single submitter
- p.Asp796= Single submitter
- p.Asp802= Single submitter
- p.Asp827= Single submitter
- p.Cys146= Single submitter
- p.Cys259= Single submitter
- p.Cys756= Single submitter
- p.Cys782= Single submitter
- p.Cys808= Single submitter
- p.Cys825= Single submitter
- p.Cys838= Single submitter
- p.Gln110= Single submitter
- p.Gln246= Single submitter
- p.Gln260= Single submitter
- p.Gln266= Single submitter
- p.Gln315= Single submitter
- p.Gln316= Single submitter
- p.Gln550= Single submitter
- p.Gln554= Single submitter
- p.Gln682= Single submitter
- p.Glu121= Single submitter
- p.Glu337= Single submitter
- p.Glu413= Single submitter
- p.Glu436= Single submitter
- p.Glu510= Single submitter
- p.Glu593= Single submitter
- p.Glu596= Single submitter
- p.Glu716Lys Single submitter
- p.Glu719= Single submitter
- p.Glu749= Single submitter
- p.Glu778= Single submitter
- p.Glu830= Single submitter
- p.Glu893= Single submitter
- p.Glu917= Single submitter
- p.Gly184= Single submitter
- p.Gly199= Single submitter
- p.Gly256= Single submitter
- p.Gly26= Single submitter
- p.Gly302= Single submitter
- p.Gly306= Single submitter
- p.Gly380= Single submitter
- p.Gly387= Single submitter
- p.Gly442= Single submitter
- p.Gly516= Single submitter
- p.Gly516Arg Single submitter
- p.Gly541= Single submitter
- p.Gly599= Single submitter
- p.Gly700= Single submitter
- p.Gly760= Single submitter
- p.Gly819= Single submitter
- p.Gly820Ser Single submitter Inborn genetic diseases
- p.Gly835= Single submitter
- p.Gly842= Single submitter
- p.Gly860= Single submitter
- p.Gly888= Single submitter
- p.Gly920= Single submitter
- p.His114= Single submitter
- p.His163= Single submitter
- p.His211= Single submitter
- p.His239= Single submitter
- p.His407= Single submitter
- p.His445= Single submitter
- p.His676= Single submitter
- p.His770= Single submitter
- p.His805= Single submitter
- p.Ile154= Single submitter
- p.Ile237= Single submitter
- p.Ile241= Single submitter
- p.Ile448= Single submitter
- p.Ile613= Single submitter
- p.Ile632= Single submitter
- p.Ile695= Single submitter
- p.Ile884= Single submitter
- p.Leu11= Single submitter
- p.Leu134= Single submitter
- p.Leu138= Single submitter
- p.Leu173= Single submitter
- p.Leu202= Single submitter
- p.Leu229= Single submitter
- p.Leu274= Single submitter
- p.Leu320= Single submitter
Uncertain significance 168
- c.*124G>C Multiple submitters thyroid dyshormonogenesis 2A
- c.*54C>T Multiple submitters thyroid dyshormonogenesis 2A
- p.Ala148Val Multiple submitters thyroid dyshormonogenesis 2A ⚠
- p.Ala168Thr Multiple submitters thyroid dyshormonogenesis 2A ⚠
- p.Ala614Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg206Gln Multiple submitters congenital hypothyroidism ⚠
- p.Arg684His Multiple submitters thyroid dyshormonogenesis 2A ⚠
- p.Arg769Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg89Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn217Ser Multiple submitters TPO-related disorder ⚠
- p.Asn798Lys Multiple submitters
- p.Glu604Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu673Lys Multiple submitters thyroid dyshormonogenesis 2A ⚠
- p.Gly920Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu196Ser Multiple submitters thyroid dyshormonogenesis 2A ⚠
- p.Met137Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro204= Multiple submitters thyroid dyshormonogenesis 2A
- p.Pro70Ala Multiple submitters thyroid dyshormonogenesis 2A ⚠
- p.Trp849Cys Multiple submitters Inborn genetic diseases
- p.Val763Met Multiple submitters Inborn genetic diseases ⚠
- c.1338+5G>A Single submitter thyroid dyshormonogenesis 2A
- c.2519-3C>G Single submitter
- c.2619-43_2619-15inv Single submitter
- c.-1-11G>A Single submitter thyroid dyshormonogenesis 2A
- c.-10G>C Single submitter thyroid dyshormonogenesis 2A
- c.-2+19T>C Single submitter thyroid dyshormonogenesis 2A
- c.-51C>T Single submitter thyroid dyshormonogenesis 2A
- c.-69C>T Single submitter thyroid dyshormonogenesis 2A
- c.-917T>C Single submitter
- c.*113G>A Single submitter thyroid dyshormonogenesis 2A
- c.*144T>C Single submitter thyroid dyshormonogenesis 2A
- c.*37T>C Single submitter thyroid dyshormonogenesis 2A
- c.*51G>A Single submitter
- c.*55G>A Single submitter thyroid dyshormonogenesis 2A
- p.Ala157Thr Single submitter Inborn genetic diseases ⚠
- p.Ala242Thr Single submitter Inborn genetic diseases ⚠
- p.Ala278Pro Single submitter Inborn genetic diseases ⚠
- p.Ala285Thr Single submitter Inborn genetic diseases ⚠
- p.Ala346Gly Single submitter Inborn genetic diseases ⚠
- p.Ala346Val Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Ala371Thr Single submitter Inborn genetic diseases ⚠
- p.Ala423Thr Single submitter Inborn genetic diseases ⚠
- p.Ala426Glu Single submitter ⚠
- p.Ala437Glu Single submitter ⚠
- p.Ala477_Asn483del Single submitter thyroid dyshormonogenesis 2A
- p.Ala477Gly Single submitter Inborn genetic diseases ⚠
- p.Ala506Thr Single submitter ⚠
- p.Ala576Val Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala619Thr Single submitter Inborn genetic diseases ⚠
- p.Ala654Val Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Ala801Val Single submitter Inborn genetic diseases ⚠
- p.Ala804Val Single submitter Inborn genetic diseases ⚠
- p.Ala863Thr Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg225Cys Single submitter Inborn genetic diseases ⚠
- p.Arg351Cys Single submitter Inborn genetic diseases
- p.Arg370His Single submitter ⚠
- p.Arg438Cys Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg540Gln Single submitter Inborn genetic diseases ⚠
- p.Arg602His Single submitter ⚠
- p.Arg602Leu Single submitter ⚠
- p.Arg693Pro Single submitter TPO-related disorder ⚠
- p.Arg693Trp Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg762Cys Single submitter Inborn genetic diseases ⚠
- p.Arg815Thr Single submitter ⚠
- p.Arg836Thr Single submitter ⚠
- p.Arg843Lys Single submitter ⚠
- p.Arg846Gln Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Arg875His Single submitter Inborn genetic diseases ⚠
- p.Arg908Gln Single submitter Inborn genetic diseases ⚠
- p.Asn149Ser Single submitter Inborn genetic diseases ⚠
- p.Asn160Asp Single submitter ⚠
- p.Asn198Ser Single submitter Inborn genetic diseases ⚠
- p.Asn307Thr Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Asp223His Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Asp224Gly Single submitter ⚠
- p.Asp238Tyr Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Asp666Asn Single submitter ⚠
- p.Asp796Asn Single submitter ⚠
- p.Asp834Asn Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Cys269Ser Single submitter ⚠
- p.Cys296Gly Single submitter Inborn genetic diseases ⚠
- p.Cys375Ser Single submitter ⚠
- p.Cys742Arg Single submitter congenital hypothyroidism ⚠
- p.Cys823Phe Single submitter ⚠
- p.Cys838Ser Single submitter ⚠
- p.Cys838Tyr Single submitter ⚠
- p.Gln273= Single submitter thyroid dyshormonogenesis 2A
- p.Gln446Glu Single submitter ⚠
- p.Gln738Arg Single submitter Inborn genetic diseases ⚠
- p.Gln775Arg Single submitter Inborn genetic diseases ⚠
- p.Gln790Pro Single submitter Inborn genetic diseases ⚠
- p.Gln916His Single submitter ⚠
- p.Glu378Lys Single submitter ⚠
- p.Glu830Lys Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Glu922Gln Single submitter Inborn genetic diseases ⚠
- p.Glu922Ter Single submitter
- p.Gly167Ser Single submitter ⚠
- p.Gly26Arg Single submitter Inborn genetic diseases ⚠
- p.Gly302Asp Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Gly380Ser Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Gly442Arg Single submitter Inborn genetic diseases ⚠
- p.Gly583Cys Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Gly587Arg Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Gly599Ala Single submitter Inborn genetic diseases ⚠
- p.Gly820Asp Single submitter Inborn genetic diseases ⚠
- p.Gly897= Single submitter thyroid dyshormonogenesis 2A
- p.His407Pro Single submitter Inborn genetic diseases ⚠
- p.His445Tyr Single submitter
- p.His899Tyr Single submitter ⚠
- p.His927Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile539Thr Single submitter Inborn genetic diseases ⚠
- p.Ile657Thr Single submitter ⚠
- p.Ile850Val Single submitter ⚠
- p.Leu147Met Single submitter Inborn genetic diseases ⚠
- p.Leu364Pro Single submitter ⚠
- p.Leu391Pro Single submitter Inborn genetic diseases ⚠
- p.Leu538Ile Single submitter Inborn genetic diseases ⚠
- p.Leu73Pro Single submitter ⚠
- p.Leu774Phe Single submitter Inborn genetic diseases ⚠
- p.Leu882Val Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Lys250Glu Single submitter Inborn genetic diseases ⚠
- p.Met137Leu Single submitter Inborn genetic diseases ⚠
- p.Met137Val Single submitter Inborn genetic diseases ⚠
- p.Met13Thr Single submitter Inborn genetic diseases ⚠
- p.Met317Ile Single submitter Inborn genetic diseases ⚠
- p.Met727Ile Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Phe390Tyr Single submitter ⚠
- p.Phe643Ile Single submitter Inborn genetic diseases ⚠
- p.Phe643Ser Single submitter Inborn genetic diseases ⚠
- p.Phe718Val Single submitter Inborn genetic diseases
- p.Pro164His Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Pro201Thr Single submitter Inborn genetic diseases ⚠
- p.Pro203His Single submitter congenital hypothyroidism ⚠
- p.Pro268Leu Single submitter Inborn genetic diseases ⚠
- p.Pro313Leu Single submitter Inborn genetic diseases ⚠
- p.Pro313Ser Single submitter Inborn genetic diseases ⚠
- p.Pro388Ser Single submitter Inborn genetic diseases ⚠
- p.Pro512Ser Single submitter Inborn genetic diseases ⚠
- p.Pro806Thr Single submitter ⚠
- p.Pro807His Single submitter Inborn genetic diseases ⚠
- p.Pro845Leu Single submitter Inborn genetic diseases ⚠
- p.Pro892His Single submitter Inborn genetic diseases ⚠
- p.Ser125Arg Single submitter Inborn genetic diseases ⚠
- p.Ser249Thr Single submitter TPO-related disorder ⚠
- p.Ser345Gly Single submitter Inborn genetic diseases ⚠
- p.Ser41Arg Single submitter Inborn genetic diseases ⚠
- p.Ser429Arg Single submitter Inborn genetic diseases ⚠
- p.Ser720Pro Single submitter Inborn genetic diseases ⚠
- p.Ser747Asn Single submitter Inborn genetic diseases ⚠
- p.Ser767Pro Single submitter thyroid dyshormonogenesis 2A
- p.Ser867Pro Single submitter ⚠
- p.Thr10Met Single submitter ⚠
- p.Thr116= Single submitter thyroid dyshormonogenesis 2A
- p.Thr116Ala Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Thr116Met Single submitter Inborn genetic diseases ⚠
- p.Thr16Ile Single submitter Inborn genetic diseases ⚠
- p.Thr16Lys Single submitter Inborn genetic diseases ⚠
- p.Thr171Met Single submitter ⚠
- p.Thr321Ala Single submitter ⚠
- p.Thr321Asn Single submitter ⚠
- p.Thr866Ile Single submitter Inborn genetic diseases ⚠
- p.Trp343Arg Single submitter Inborn genetic diseases ⚠
- p.Val367Met Single submitter ⚠
- p.Val677Ile Single submitter Inborn genetic diseases ⚠
- p.Val839Ile Single submitter ⚠
- p.Val847Met Single submitter thyroid dyshormonogenesis 2A ⚠
- p.Asp834His No assertion criteria TPO-related disorder ⚠