TTR — 424 ClinVar variants
All ClinVar germline TTR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 202 flagged for review →
51 Pathogenic · 39 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 44 Conflicting · 11 Benign · 10 Benign/Likely benign · 101 Likely benign · 134 Uncertain significance
Full TTR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 202
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 46
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TTR p.Ala117Ser
Pathogenic/Likely pathogenic
Multiple submitters
carpal tunnel syndrome 1
-
TTR p.Ala65Thr
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ala65Val
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Asp58Ala
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Asp58His
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu109Gln
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu109Lys
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu109Val
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Glu81Gly
Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu81Lys
Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu82Lys
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Gly67Ala
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Gly77Arg
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.His110Asp
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ile127Met
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ile127Val
Pathogenic
Multiple submitters
TTR-related disorder
-
TTR p.Ile88Leu
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ile93Val
Pathogenic/Likely pathogenic
Multiple submitters
hereditary amyloidosis
-
TTR p.Leu32Val
Pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ser43Asn
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ser97Tyr
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Thr60Asn
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Thr79Ile
Likely pathogenic
Multiple submitters
amyloidosis
-
TTR p.Thr80Ala
Pathogenic/Likely pathogenic
Multiple submitters
TTR-related disorder
-
TTR p.Tyr98Phe
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Val142Ile
Pathogenic/Likely pathogenic
Multiple submitters
ATTRV122I amyloidosis
-
TTR p.Val40Ile
Pathogenic
Multiple submitters
TTR-related disorder
-
TTR p.Val48Met
Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Val50Leu
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ala45Ser
Likely pathogenic
Single submitter
Cardiovascular phenotype
-
TTR p.Ala56Asp
Pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ala65Ser
Likely pathogenic
Single submitter
Cardiovascular phenotype
-
TTR p.Asp58Val
Pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu109Gly
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu62Asp
Pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu82Val
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ile88Met
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Leu131Met
Likely pathogenic
Single submitter
Cardiovascular phenotype
-
TTR p.Leu78Val
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Lys90Gln
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Phe64Tyr
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ser97Phe
Pathogenic
Single submitter
Cardiovascular phenotype
-
TTR p.Thr80Asn
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
- TTR p.Thr95Ala Likely pathogenic Single submitter
-
TTR p.Ala117Gly
Pathogenic
No assertion criteria
amyloidosis, hereditary systemic 1
-
TTR p.Glu62Gly
Pathogenic
No assertion criteria
amyloidosis, hereditary systemic 1
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TTR p.Ala101Thr
Conflicting
Single submitter
hyperthyroxinemia, dystransthyretinemic
-
TTR p.Ala101Val
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.Ala129Ser
Conflicting
Single submitter
cardiomyopathy
-
TTR p.Ala129Thr
Conflicting
Single submitter
carpal tunnel syndrome 1
-
TTR p.Arg123His
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.Arg124His
Conflicting
Single submitter
Charcot-Marie-Tooth disease
-
TTR p.Arg5His
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Asn47Ser
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu71Lys
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.Glu81Ala
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.His110Asn
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.His51Asn
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ile104Leu
Conflicting
Single submitter
Tip-toe gait
-
TTR p.Ile46Val
Conflicting
Single submitter
hyperthyroxinemia, dystransthyretinemic
-
TTR p.Leu75Met
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Lys55Glu
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Pro122Arg
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ser70Gly
Conflicting
Single submitter
hypertrophic cardiomyopathy
-
TTR p.Thr79Ala
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
Predictors lean, ClinVar uncertain 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TTR p.Ala129Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ala12Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Arg124Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Arg41Gln
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Arg5Cys
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Arg5Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Asn144Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu62Lys
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Glu71Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu82Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu86Gln
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Gly121Arg
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Gly13Arg
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Gly21Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Gly24Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.His4Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ile88Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Leu102Phe
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Leu9Phe
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Lys100Glu
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Pro133Ser
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Pro145Ser
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Pro22Leu
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ser105Phe
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ser18Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ser28Phe
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ser43Arg
Uncertain significance
Multiple submitters
carpal tunnel syndrome 1
-
TTR p.Ser70Asn
Uncertain significance
Multiple submitters
carpal tunnel syndrome 1
-
TTR p.Thr143Ala
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Thr23Met
Uncertain significance
Multiple submitters
carpal tunnel syndrome 1
-
TTR p.Tyr136His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Val17Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ala111Glu
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ala12Asp
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ala57Asp
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ala57Thr
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Arg124Leu
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Arg41Pro
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Asp119Ala
Uncertain significance
Single submitter
cardiomyopathy
-
TTR p.Asp59Gly
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu147Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
TTR p.Glu71Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
TTR p.Gly42Ser
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.His4Gln
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.His51Asp
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.His51Tyr
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ile46Thr
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ile88Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
TTR p.Leu102Pro
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Leu37Pro
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Lys29Glu
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Lys68Thr
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
- TTR p.Phe16Tyr Uncertain significance Single submitter
-
TTR p.Pro106Ala
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Pro122Leu
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
- TTR p.Pro63Ala Uncertain significance Single submitter
-
TTR p.Pro63Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
TTR p.Ser120Cys
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Thr116Arg
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Thr23Ala
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Thr25Ile
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Thr60Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
TTR p.Thr80Ser
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Trp99Ser
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Tyr125His
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu62Ala
Uncertain significance
No assertion criteria
amyloidosis, hereditary systemic 1
Predictors split 71
The independent predictors disagree with each other — read with care.
-
TTR p.Ala128Thr
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ala128Val
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Ala39Asp
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ala65Asp
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Arg123Cys
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Arg123Gly
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Asp38Asn
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Asp38Glu
Pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Cys30Arg
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Cys30Gly
Uncertain significance
Multiple submitters
hyperthyroxinemia, dystransthyretinemic
-
TTR p.Glu74Gln
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Glu74Gly
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Glu74Lys
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Gly121Ser
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.His76Arg
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Leu14Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
TTR p.Phe53Leu
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Phe64Ser
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Phe84Leu
Pathogenic
Multiple submitters
TTR-related disorder
-
TTR p.Pro145His
Uncertain significance
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Pro44Ser
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ser70Arg
Pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Thr79Lys
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Thr80Ile
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Val142Ala
Pathogenic/Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Val40Ala
Likely pathogenic
Multiple submitters
amyloidosis, hereditary systemic 1
-
TTR p.Val50Ala
Pathogenic
Multiple submitters
TTR-related disorder
-
TTR p.Val52Ala
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
TTR p.Ala12Val
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ala140Ser
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.Ala140Thr
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ala140Val
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ala39Gly
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Arg124Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
TTR p.Arg54Ser
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.Asp119Asn
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.Asp119Val
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Asp94His
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.Cys30Tyr
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu109Asp
Conflicting
Single submitter
Cardiovascular phenotype
-
TTR p.Glu112Gly
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu74Ala
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Glu86Asp
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Gly103Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
TTR p.Ile127Thr
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Leu75Arg
Pathogenic
Single submitter
amyloidosis, hereditary systemic 1
- TTR p.Leu8His Uncertain significance Single submitter
-
TTR p.Lys55Asn
Pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Met33Lys
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Phe64Leu
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Phe84Ile
Likely pathogenic
Single submitter
Cardiovascular phenotype
-
TTR p.Phe84Tyr
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Pro31Leu
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Pro31Ser
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Pro44Leu
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Ser120Pro
Uncertain significance
Single submitter
cardiomyopathy
-
TTR p.Ser137Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
TTR p.Thr126Ile
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Thr139Met
Conflicting
Single submitter
hyperthyroidism
-
TTR p.Thr69Ser
Likely pathogenic
Single submitter
amyloidosis, hereditary systemic 1
- TTR p.Thr95Ser Uncertain significance Single submitter
-
TTR p.Trp61Leu
Pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Tyr134Ser
Pathogenic
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Val113Ala
Uncertain significance
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Val113Met
Uncertain significance
Single submitter
Cardiovascular phenotype
- TTR p.Val114Ile Uncertain significance Single submitter
-
TTR p.Val114Leu
Conflicting
Single submitter
amyloidosis, hereditary systemic 1
-
TTR p.Thr69Ala
Pathogenic
No assertion criteria
amyloidosis, hereditary systemic 1
-
TTR p.Tyr134Asn
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
-
TTR p.Tyr134His
Pathogenic
No assertion criteria
carpal tunnel syndrome 1
-
TTR p.Val91Ala
Pathogenic/Likely pathogenic
No assertion criteria
amyloidosis, hereditary systemic 1
All TTR variants
Pathogenic 51
- p.Asp38Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Asp38Glu Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Asp38Gly Multiple submitters amyloidosis, hereditary systemic 1
- p.Asp58Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Glu109Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Glu74Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Glu74Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Gly67Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Gly67Glu Multiple submitters amyloidosis, hereditary systemic 1
- p.His108Arg Multiple submitters Cardiovascular phenotype
- p.Ile104Ser Multiple submitters Cardiovascular phenotype
- p.Ile127Val Multiple submitters TTR-related disorder ⚠
- p.Leu32Pro Multiple submitters Cardiovascular phenotype
- p.Leu32Val Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Phe53Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Phe84Leu Multiple submitters TTR-related disorder ⚠
- p.Phe84Ser Multiple submitters amyloidosis, hereditary systemic 1
- p.Ser70Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Ser72Pro Multiple submitters amyloidosis, hereditary systemic 1
- p.Tyr134Cys Multiple submitters Cardiovascular phenotype
- p.Val142del Multiple submitters Cardiovascular phenotype
- p.Val40Ile Multiple submitters TTR-related disorder ⚠
- p.Val50Ala Multiple submitters TTR-related disorder ⚠
- p.Val50Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Val50Met Multiple submitters TTR-related disorder
- p.Ala56Asp Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Arg54Gly Single submitter amyloidosis, hereditary systemic 1
- p.Asp38Tyr Single submitter amyloidosis, hereditary systemic 1
- p.Asp58Val Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Glu62Asp Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Gly73Glu Single submitter amyloidosis, hereditary systemic 1
- p.Ile104Asn Single submitter amyloidosis, hereditary systemic 1
- p.Leu75Arg Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Lys55Asn Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Lys90Asn Single submitter amyloidosis, hereditary systemic 1
- p.Ser97Phe Single submitter Cardiovascular phenotype ⚠
- p.Thr69Pro Single submitter
- p.Trp61Leu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Tyr134Ser Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Val50Gly Single submitter amyloidosis, hereditary systemic 1
- p.Ala117Gly No assertion criteria amyloidosis, hereditary systemic 1 ⚠
- p.Ala45Thr No assertion criteria amyloidosis, hereditary systemic 1
- p.Glu62Gly No assertion criteria amyloidosis, hereditary systemic 1 ⚠
- p.Glu71_Ser72dup No assertion criteria amyloidosis, hereditary systemic 1
- p.Gly67Arg No assertion criteria amyloidosis, hereditary systemic 1
- p.Leu75Pro No assertion criteria amyloidosis, hereditary systemic 1
- p.Leu78Arg No assertion criteria amyloidosis, hereditary systemic 1
- p.Phe53Ile No assertion criteria amyloidosis, hereditary systemic 1
- p.Ser70Ile No assertion criteria amyloidosis, hereditary systemic 1
- p.Thr69Ala No assertion criteria amyloidosis, hereditary systemic 1 ⚠
- p.Tyr134His No assertion criteria carpal tunnel syndrome 1 ⚠
Pathogenic/Likely pathogenic 39
- p.Ala117Ser Multiple submitters carpal tunnel syndrome 1 ⚠
- p.Ala39Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Ala56Pro Multiple submitters Cardiovascular phenotype
- p.Ala65Asp Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ala65Thr Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ala65Val Multiple submitters Cardiovascular phenotype ⚠
- p.Arg54Thr Multiple submitters Cardiovascular phenotype
- p.Asp58His Multiple submitters Cardiovascular phenotype ⚠
- p.Cys30Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Glu109Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Glu109Val Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Glu74Gly Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Glu74Leu Multiple submitters amyloidosis, hereditary systemic 1
- p.Glu82Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Gly67Val Multiple submitters Cardiovascular phenotype
- p.Gly73Arg Multiple submitters amyloidosis, hereditary systemic 1
- p.Gly77Arg Multiple submitters Cardiovascular phenotype ⚠
- p.His110Asp Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ile104Thr Multiple submitters Cardiovascular phenotype
- p.Ile127Met Multiple submitters Cardiovascular phenotype ⚠
- p.Ile88Leu Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ile93Val Multiple submitters hereditary amyloidosis ⚠
- p.Leu78His Multiple submitters Cardiovascular phenotype
- p.Phe53Cys Multiple submitters amyloidosis, hereditary systemic 1
- p.Phe64Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro44Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Ser43Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Ser97Tyr Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Thr60Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Thr69Ile Multiple submitters Cardiovascular phenotype
- p.Thr79Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Thr80Ala Multiple submitters TTR-related disorder ⚠
- p.Thr80Ile Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Tyr89His Multiple submitters Cardiovascular phenotype
- p.Tyr98Phe Multiple submitters Cardiovascular phenotype ⚠
- p.Val142Ala Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Val142Ile Multiple submitters ATTRV122I amyloidosis ⚠
- p.Val52Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Val91Ala No assertion criteria amyloidosis, hereditary systemic 1 ⚠
Likely pathogenic 34
- p.Glu74Ser Multiple submitters Cardiovascular phenotype
- p.Glu81Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Glu81Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Gly87Arg Multiple submitters amyloidosis, hereditary systemic 1
- p.Gly87Glu Multiple submitters amyloidosis, hereditary systemic 1
- p.Thr79Ile Multiple submitters amyloidosis ⚠
- p.Tyr136Ser Multiple submitters amyloidosis, hereditary systemic 1
- p.Val40Ala Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Val48Met Multiple submitters Cardiovascular phenotype ⚠
- p.Ala117Asp Single submitter amyloidosis, hereditary systemic 1
- p.Ala140Val Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ala45Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala65Ser Single submitter Cardiovascular phenotype ⚠
- p.Cys30Tyr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Glu109Gly Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Glu74Ala Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Glu82Val Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ile127Thr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ile88Met Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Leu131Met Single submitter Cardiovascular phenotype ⚠
- p.Leu78Val Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Lys90Gln Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Lys90Glu Single submitter amyloidosis, hereditary systemic 1
- p.Phe64Tyr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Phe84Ile Single submitter Cardiovascular phenotype ⚠
- p.Phe84Tyr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Pro31Leu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Pro44Leu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Thr126Asn Single submitter amyloidosis, hereditary systemic 1
- p.Thr126Ile Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Thr69Ser Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Thr80Asn Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Thr95Ala Single submitter ⚠
- p.Tyr98His Single submitter amyloidosis, hereditary systemic 1
Conflicting classifications of pathogenicity 44
- c.336+19G>A Single submitter Cardiovascular phenotype
- c.337-14_337-11del Single submitter Cardiovascular phenotype
- c.337-3T>C Single submitter Cardiovascular phenotype
- c.70-16T>C Single submitter Cardiovascular phenotype
- c.-102G>T Single submitter amyloidosis, hereditary systemic 1
- c.-15C>T Single submitter Cardiovascular phenotype
- c.-1G>C Single submitter Cardiovascular phenotype
- c.-3A>G Single submitter Cardiovascular phenotype
- c.*9TCC[1] Single submitter
- p.Ala101Thr Single submitter hyperthyroxinemia, dystransthyretinemic ⚠
- p.Ala101Val Single submitter Cardiovascular phenotype ⚠
- p.Ala128= Single submitter Charcot-Marie-Tooth disease
- p.Ala129Ser Single submitter cardiomyopathy ⚠
- p.Ala129Thr Single submitter carpal tunnel syndrome 1 ⚠
- p.Ala140Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala39Gly Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Arg123His Single submitter Cardiovascular phenotype ⚠
- p.Arg124His Single submitter Charcot-Marie-Tooth disease ⚠
- p.Arg54Ser Single submitter Cardiovascular phenotype ⚠
- p.Arg5His Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Asn118= Single submitter cardiomyopathy
- p.Asn47Ser Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Asp119Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp94His Single submitter Cardiovascular phenotype ⚠
- p.Glu109Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu147Ter Single submitter hyperthyroxinemia, dystransthyretinemic
- p.Glu71Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu81_Phe84del Single submitter amyloidosis, hereditary systemic 1
- p.Glu81Ala Single submitter Cardiovascular phenotype ⚠
- p.Glu86Asp Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.His110Asn Single submitter Cardiovascular phenotype ⚠
- p.His51Asn Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ile104Leu Single submitter Tip-toe gait ⚠
- p.Ile46Val Single submitter hyperthyroxinemia, dystransthyretinemic ⚠
- p.Leu75Met Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Lys55Glu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Phe64Leu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Pro122Arg Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ser70Gly Single submitter hypertrophic cardiomyopathy ⚠
- p.Thr139= Single submitter Cardiovascular phenotype
- p.Thr139Met Single submitter hyperthyroidism ⚠
- p.Thr23= Single submitter Cardiovascular phenotype
- p.Thr79Ala Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Val114Leu Single submitter amyloidosis, hereditary systemic 1 ⚠
Benign 11
- c.201-76T>A Multiple submitters
- c.337-18G>C Multiple submitters Cardiovascular phenotype
- c.*191C>T Multiple submitters amyloidosis, hereditary systemic 1
- c.*21C>A Multiple submitters amyloidosis, hereditary systemic 1
- p.Ser120= Multiple submitters Cardiovascular phenotype
- c.337-475T>A Single submitter
- c.337-475T>G Single submitter
- c.337-496T>A Single submitter
- c.*100A>G Single submitter
- c.*118G>A Single submitter
- c.*345G>A Single submitter amyloidosis, hereditary systemic 1
Benign/Likely benign 10
- c.69+10T>C Multiple submitters amyloidosis, hereditary systemic 1
- c.70-7C>T Multiple submitters amyloidosis, hereditary systemic 1
- c.-743A>T Multiple submitters carpal tunnel syndrome 1
- c.*3_*11del Multiple submitters Cardiovascular phenotype
- p.Arg124= Multiple submitters Cardiovascular phenotype
- p.Gly26Ser Multiple submitters amyloidosis, hereditary systemic 1
- p.Leu14= Multiple submitters Cardiovascular phenotype
- p.Leu8= Multiple submitters Cardiovascular phenotype
- p.Lys146Arg Multiple submitters Cardiovascular phenotype
- p.Tyr136= Multiple submitters amyloidosis, hereditary systemic 1
Likely benign 101
- c.200+20T>C Multiple submitters amyloidosis, hereditary systemic 1
- c.201-16C>T Multiple submitters amyloidosis, hereditary systemic 1
- c.201-4A>G Multiple submitters amyloidosis, hereditary systemic 1
- c.336+18C>T Multiple submitters amyloidosis, hereditary systemic 1
- c.336+8T>C Multiple submitters amyloidosis, hereditary systemic 1
- c.337-13T>C Multiple submitters Charcot-Marie-Tooth disease
- c.69+7G>A Multiple submitters amyloidosis, hereditary systemic 1
- c.70-19G>A Multiple submitters amyloidosis, hereditary systemic 1
- c.70-20C>T Multiple submitters amyloidosis, hereditary systemic 1
- c.70-4C>T Multiple submitters Cardiovascular phenotype
- c.70-9T>C Multiple submitters amyloidosis, hereditary systemic 1
- c.*261C>T Multiple submitters amyloidosis, hereditary systemic 1
- p.Ala101= Multiple submitters amyloidosis, hereditary systemic 1
- p.Ala129= Multiple submitters amyloidosis, hereditary systemic 1
- p.Ala65= Multiple submitters amyloidosis, hereditary systemic 1
- p.Arg41= Multiple submitters carpal tunnel syndrome 1
- p.Asn47= Multiple submitters carpal tunnel syndrome 1
- p.Glu147= Multiple submitters amyloidosis, hereditary systemic 1
- p.Gly26= Multiple submitters amyloidosis, hereditary systemic 1
- p.Gly77= Multiple submitters cardiomyopathy
- p.Ile127= Multiple submitters Cardiovascular phenotype
- p.Lys100= Multiple submitters Cardiovascular phenotype
- p.Pro22= Multiple submitters amyloidosis, hereditary systemic 1
- p.Ser105= Multiple submitters amyloidosis, hereditary systemic 1
- p.Ser132= Multiple submitters Cardiovascular phenotype
- p.Ser135= Multiple submitters Cardiovascular phenotype
- p.Ser137= Multiple submitters amyloidosis, hereditary systemic 1
- p.Ser18= Multiple submitters amyloidosis, hereditary systemic 1
- p.Ser3= Multiple submitters amyloidosis, hereditary systemic 1
- p.Thr25= Multiple submitters Cardiovascular phenotype
- p.Tyr125= Multiple submitters Cardiovascular phenotype
- p.Tyr89= Multiple submitters Cardiovascular phenotype
- p.Val40= Multiple submitters amyloidosis, hereditary systemic 1
- p.Val52= Multiple submitters Cardiovascular phenotype
- c.200+12A>G Single submitter amyloidosis, hereditary systemic 1
- c.200+14G>T Single submitter amyloidosis, hereditary systemic 1
- c.200+15A>G Single submitter amyloidosis, hereditary systemic 1
- c.200+17C>A Single submitter amyloidosis, hereditary systemic 1
- c.200+7del Single submitter amyloidosis, hereditary systemic 1
- c.200+8G>T Single submitter amyloidosis, hereditary systemic 1
- c.201-10C>A Single submitter amyloidosis, hereditary systemic 1
- c.201-10C>T Single submitter amyloidosis, hereditary systemic 1
- c.201-16C>G Single submitter amyloidosis, hereditary systemic 1
- c.201-27C>A Single submitter
- c.201-32C>T Single submitter
- c.201-3T>C Single submitter Charcot-Marie-Tooth disease
- c.201-7C>T Single submitter amyloidosis, hereditary systemic 1
- c.201-9A>C Single submitter amyloidosis, hereditary systemic 1
- c.336+10C>G Single submitter amyloidosis, hereditary systemic 1
- c.336+10C>T Single submitter amyloidosis, hereditary systemic 1
- c.336+16T>C Single submitter
- c.337-12C>T Single submitter amyloidosis, hereditary systemic 1
- c.337-16C>G Single submitter amyloidosis, hereditary systemic 1
- c.337-19T>C Single submitter amyloidosis, hereditary systemic 1
- c.337-19T>G Single submitter amyloidosis, hereditary systemic 1
- c.69+10del Single submitter amyloidosis, hereditary systemic 1
- c.69+12T>C Single submitter amyloidosis, hereditary systemic 1
- c.69+13G>C Single submitter amyloidosis, hereditary systemic 1
- c.69+30C>T Single submitter
- c.70-10C>T Single submitter
- c.70-19G>C Single submitter amyloidosis, hereditary systemic 1
- c.70-19G>T Single submitter amyloidosis, hereditary systemic 1
- c.70-5C>T Single submitter amyloidosis, hereditary systemic 1
- c.70-9T>A Single submitter amyloidosis, hereditary systemic 1
- c.-46C>T Single submitter
- p.Ala111= Single submitter amyloidosis, hereditary systemic 1
- p.Ala12= Single submitter amyloidosis, hereditary systemic 1
- p.Ala140= Single submitter Cardiovascular phenotype
- p.Ala2= Single submitter amyloidosis, hereditary systemic 1
- p.Ala39= Single submitter amyloidosis, hereditary systemic 1
- p.Ala49= Single submitter amyloidosis, hereditary systemic 1
- p.Ala56= Single submitter amyloidosis, hereditary systemic 1
- p.Arg123= Single submitter
- p.Arg54= Single submitter amyloidosis, hereditary systemic 1
- p.Asp38= Single submitter amyloidosis, hereditary systemic 1
- p.Asp58= Single submitter amyloidosis, hereditary systemic 1
- p.Cys10= Single submitter amyloidosis, hereditary systemic 1
- p.Cys30= Single submitter amyloidosis, hereditary systemic 1
- p.Glu109= Single submitter amyloidosis, hereditary systemic 1
- p.Glu19= Single submitter amyloidosis, hereditary systemic 1
- p.Glu62= Single submitter amyloidosis, hereditary systemic 1
- p.Glu83= Single submitter amyloidosis, hereditary systemic 1
- p.Gly24= Single submitter amyloidosis, hereditary systemic 1
- p.Gly87= Single submitter Cardiovascular phenotype
- p.His110= Single submitter amyloidosis, hereditary systemic 1
- p.Leu130= Single submitter amyloidosis, hereditary systemic 1
- p.Leu131= Single submitter amyloidosis, hereditary systemic 1
- p.Leu6= Single submitter amyloidosis, hereditary systemic 1
- p.Leu7= Single submitter amyloidosis, hereditary systemic 1
- p.Leu75= Single submitter amyloidosis, hereditary systemic 1
- p.Lys146= Single submitter Cardiovascular phenotype
- p.Ser66= Single submitter amyloidosis, hereditary systemic 1
- p.Ser72= Single submitter amyloidosis, hereditary systemic 1
- p.Thr60= Single submitter amyloidosis, hereditary systemic 1
- p.Thr80= Single submitter
- p.Thr95= Single submitter amyloidosis, hereditary systemic 1
- p.Val141= Single submitter amyloidosis, hereditary systemic 1
- p.Val15= Single submitter amyloidosis, hereditary systemic 1
- p.Val36= Single submitter amyloidosis, hereditary systemic 1
- p.Ala57= No assertion criteria
- p.Tyr134Asn No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 134
- c.200+4A>G Multiple submitters amyloidosis, hereditary systemic 1
- c.200+5G>T Multiple submitters Cardiovascular phenotype
- c.336+5G>A Multiple submitters Cardiovascular phenotype
- c.69+5G>C Multiple submitters TTR-related disorder
- c.69+6T>C Multiple submitters amyloidosis, hereditary systemic 1
- c.-61G>A Multiple submitters amyloidosis, hereditary systemic 1
- c.*143G>C Multiple submitters amyloidosis, hereditary systemic 1
- p.Ala128Thr Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ala128Val Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ala129Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ala12Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Arg123Cys Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Arg123Gly Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Arg124Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg41Gln Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Arg5Cys Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Arg5Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Asn144Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asp59del Multiple submitters amyloidosis, hereditary systemic 1
- p.Cys30Gly Multiple submitters hyperthyroxinemia, dystransthyretinemic ⚠
- p.Glu112= Multiple submitters Cardiovascular phenotype
- p.Glu62Lys Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Glu71Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Glu82Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Glu86Gln Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Gly121Arg Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Gly121Ser Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Gly13Arg Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Gly21Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Gly24Asp Multiple submitters Cardiovascular phenotype ⚠
- p.His4del Multiple submitters Cardiovascular phenotype
- p.His4dup Multiple submitters amyloidosis, hereditary systemic 1
- p.His4Leu Multiple submitters Cardiovascular phenotype ⚠
- p.His76Arg Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ile88Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Leu102Phe Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Leu14Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu78fs Multiple submitters amyloidosis, hereditary systemic 1
- p.Leu9Phe Multiple submitters Cardiovascular phenotype ⚠
- p.Lys100Glu Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Pro133Ser Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Pro145His Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Pro145Ser Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Pro22Leu Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ser105Phe Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ser18Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Ser28Phe Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Ser43Arg Multiple submitters carpal tunnel syndrome 1 ⚠
- p.Ser70Asn Multiple submitters carpal tunnel syndrome 1 ⚠
- p.Thr143Ala Multiple submitters amyloidosis, hereditary systemic 1 ⚠
- p.Thr23Met Multiple submitters carpal tunnel syndrome 1 ⚠
- p.Tyr136His Multiple submitters Cardiovascular phenotype ⚠
- p.Val17Ala Multiple submitters Cardiovascular phenotype ⚠
- c.200+2T>C Single submitter amyloidosis, hereditary systemic 1
- c.201-1G>A Single submitter amyloidosis, hereditary systemic 1
- c.201-5T>C Single submitter Cardiovascular phenotype
- c.201-8C>A Single submitter cardiomyopathy
- c.336+5G>T Single submitter amyloidosis, hereditary systemic 1
- c.337-3T>G Single submitter amyloidosis, hereditary systemic 1
- c.337-527_349del Single submitter amyloidosis, hereditary systemic 1
- c.69+1G>A Single submitter amyloidosis, hereditary systemic 1
- c.69+2T>C Single submitter
- c.69+4_69+7del Single submitter amyloidosis, hereditary systemic 1
- c.69+4A>T Single submitter amyloidosis, hereditary systemic 1
- c.70-1G>A Single submitter Cardiovascular phenotype
- c.70-20del Single submitter amyloidosis, hereditary systemic 1
- c.-5G>A Single submitter Cardiovascular phenotype
- c.*20A>G Single submitter
- c.*234G>C Single submitter amyloidosis, hereditary systemic 1
- c.*304C>T Single submitter amyloidosis, hereditary systemic 1
- c.*31G>A Single submitter amyloidosis, hereditary systemic 1
- c.*8C>A Single submitter cardiomyopathy
- p.Ala111Glu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ala12Asp Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ala12Val Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ala140Thr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ala57Asp Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ala57Thr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ala65fs Single submitter
- p.Arg124Leu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Arg124Pro Single submitter Cardiovascular phenotype ⚠
- p.Arg41fs Single submitter Cardiovascular phenotype
- p.Arg41Pro Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Arg41Ter Single submitter amyloidosis, hereditary systemic 1
- p.Asp119Ala Single submitter cardiomyopathy ⚠
- p.Asp119Val Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Asp59Gly Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Glu112Gly Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Glu147Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu71Gly Single submitter Cardiovascular phenotype ⚠
- p.Gly103Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly42Ser Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.His4Gln Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.His51Asp Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.His51Tyr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ile46Thr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ile88Arg Single submitter Cardiovascular phenotype ⚠
- p.Leu102Pro Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Leu37Pro Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Leu8His Single submitter ⚠
- p.Lys29Glu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Lys29Ter Single submitter
- p.Lys68Thr Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Met1Thr Single submitter
- p.Met33dup Single submitter amyloidosis, hereditary systemic 1
- p.Met33Lys Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Phe16Tyr Single submitter ⚠
- p.Pro106Ala Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Pro122Leu Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Pro22fs Single submitter amyloidosis, hereditary systemic 1
- p.Pro31Ser Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Pro63Ala Single submitter ⚠
- p.Pro63Ser Single submitter Cardiovascular phenotype ⚠
- p.Ser120Cys Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Ser120Pro Single submitter cardiomyopathy ⚠
- p.Ser137Thr Single submitter Cardiovascular phenotype ⚠
- p.Thr116Arg Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Thr23Ala Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Thr25Ile Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Thr60Ile Single submitter Cardiovascular phenotype ⚠
- p.Thr80Ser Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Thr95Ser Single submitter ⚠
- p.Trp99Ser Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Trp99Ter Single submitter
- p.Tyr125His Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Tyr136Ter Single submitter amyloidosis, hereditary systemic 1
- p.Tyr89Ter Single submitter
- p.Val113= Single submitter amyloidosis, hereditary systemic 1
- p.Val113Ala Single submitter amyloidosis, hereditary systemic 1 ⚠
- p.Val113Met Single submitter Cardiovascular phenotype ⚠
- p.Val114Ile Single submitter ⚠
- p.Val141Ala Single submitter amyloidosis, hereditary systemic 1
- p.Val91fs Single submitter amyloidosis, hereditary systemic 1
- p.Glu62Ala No assertion criteria amyloidosis, hereditary systemic 1 ⚠