ALB — 170 ClinVar variants
All ClinVar germline ALB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →
19 Pathogenic · 1 Likely pathogenic · 7 Conflicting · 16 Benign · 7 Benign/Likely benign · 25 Likely benign · 95 Uncertain significance
Full ALB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 91
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ALB p.Arg242His
Conflicting
Single submitter
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Gln409Lys
Conflicting
Single submitter
Inborn genetic diseases
-
ALB p.Tyr108Cys
Conflicting
Single submitter
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Val480Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALB p.Ala83Gly
Uncertain significance
Multiple submitters
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Arg23Cys
Uncertain significance
Multiple submitters
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Asp197Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALB p.Cys384Arg
Uncertain significance
Multiple submitters
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.His27Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALB p.Ala150Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Ala552Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Arg509Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Asn154Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Asn319Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Asp389Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Asp475Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Cys393Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Gln483Arg Uncertain significance Single submitter
-
ALB p.Glu503Val
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
- ALB p.Glu525Lys Uncertain significance Single submitter
-
ALB p.Glu589Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Gly109Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Gly596Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.His27Gln Uncertain significance Single submitter
-
ALB p.His464Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.His91Arg Uncertain significance Single submitter
-
ALB p.Leu206Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Leu299Pro Uncertain significance Single submitter
-
ALB p.Lys569Arg
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Phe151Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Phe398Ser
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
- ALB p.Phe419Tyr Uncertain significance Single submitter
-
ALB p.Pro176Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Pro363Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Pro403Thr Uncertain significance Single submitter
-
ALB p.Pro408Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Pro445Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Ser478Cys
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
- ALB p.Thr520Ala Uncertain significance Single submitter
- ALB p.Tyr356Cys Uncertain significance Single submitter
- ALB p.Tyr394Cys Uncertain significance Single submitter
- ALB p.Val259Ala Uncertain significance Single submitter
-
ALB p.Val506Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Val600Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Val70Ile Uncertain significance Single submitter
-
ALB p.Asn415Ile
Uncertain significance
No assertion criteria
ALB-related disorder
Predictors split 41
The independent predictors disagree with each other — read with care.
-
ALB p.Ala324Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALB p.Ala387Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALB p.Arg105His
Uncertain significance
Multiple submitters
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Asp37Asn
Uncertain significance
Multiple submitters
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Thr491Met
Uncertain significance
Multiple submitters
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Thr590Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALB p.Val557Met
Uncertain significance
Multiple submitters
Analbuminemia
- ALB p.Ala188Val Uncertain significance Single submitter
-
ALB p.Ala195Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Ala200Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Ala344Val Uncertain significance Single submitter
- ALB p.Arg105Cys Uncertain significance Single submitter
-
ALB p.Arg24Gln
Uncertain significance
Single submitter
Analbuminemia
-
ALB p.Asp113Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Asp389Val
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
- ALB p.Asp399Asn Uncertain significance Single submitter
-
ALB p.Asp518Asn
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Asp587Gly
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Asp80Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Glu177Asp
Conflicting
Single submitter
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Glu61Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.His129Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.His488Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Leu373Phe Uncertain significance Single submitter
-
ALB p.Leu540Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Lys249Gln
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
-
ALB p.Lys305Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Lys305Glu
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
- ALB p.Lys337Arg Uncertain significance Single submitter
-
ALB p.Lys337Asn
Uncertain significance
Single submitter
hyperthyroxinemia, familial dysalbuminemic
- ALB p.Phe533Leu Uncertain significance Single submitter
-
ALB p.Ser603Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALB p.Thr190Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Thr267Met Uncertain significance Single submitter
-
ALB p.Thr92Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Val442Met Uncertain significance Single submitter
-
ALB p.Val506Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ALB p.Val67Met Uncertain significance Single submitter
- ALB p.Asp293Gly Benign No assertion criteria
- ALB p.Lys597Glu Benign No assertion criteria
-
ALB p.Ser226Arg
Uncertain significance
No assertion criteria
ALB-related disorder
All ALB variants
Pathogenic 19
- p.Arg138Ter Multiple submitters Analbuminemia
- p.Val78fs Multiple submitters
- c.714-2A>G Single submitter
- p.Arg242Ser Single submitter hyperthyroidism ⚠
- p.Arg24Ter Single submitter
- p.Asn291fs Single submitter
- p.Cys340Ter Single submitter
- p.Gln409Ter Single submitter
- p.Lys460Ter Single submitter
- c.79+1G>A No assertion criteria Analbuminemia Baghdad
- p.Arg242Pro No assertion criteria hyperthyroxinemia, familial dysalbuminemic
- p.Arg24Pro No assertion criteria Alloalbuminemia
- p.Asp25Val No assertion criteria Alloalbuminemia ⚠
- p.Gln56Ter No assertion criteria Analbuminemia
- p.Glu594Lys No assertion criteria ALBUMIN B ⚠
- p.Leu90Pro No assertion criteria hyperthyroxinemia, familial dysalbuminemic
- p.Lys565Glu No assertion criteria ⚠
- p.Trp238Ter No assertion criteria Analbuminemia
- p.Val367fs No assertion criteria Analbuminemia
Likely pathogenic 1
- p.Lys219fs Single submitter Analbuminemia
Conflicting classifications of pathogenicity 7
- c.843+11G>A Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Arg242His Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Gln409Lys Single submitter Inborn genetic diseases ⚠
- p.Glu177Asp Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Tyr108Cys Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Val480Ile Single submitter Inborn genetic diseases ⚠
- p.Val493= Single submitter hyperthyroxinemia, familial dysalbuminemic
Benign 16
- c.1191+11T>A Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- c.271-8C>T Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- c.615+14G>T Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- c.616-3T>C Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- c.843+10C>T Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- p.Asp536= Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- p.Leu556= Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- p.Lys438= Multiple submitters
- p.Ser297= Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- c.1428+17dup Single submitter
- c.615+26del Single submitter
- c.714-14G>A Single submitter
- c.*19C>T Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Asp293Gly No assertion criteria ⚠
- p.Gln604fs No assertion criteria
- p.Lys597Glu No assertion criteria ⚠
Benign/Likely benign 7
- c.1290-6T>C Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- c.1785+7C>T Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- p.Ala83Val Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- p.Asn410= Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- p.Asn482= Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- p.Asp574Gly Multiple submitters
- p.Pro204= Multiple submitters hyperthyroxinemia, familial dysalbuminemic
Likely benign 25
- p.Ser478= Multiple submitters hyperthyroxinemia, familial dysalbuminemic
- c.1058+14A>G Single submitter
- c.1058+19_1058+21del Single submitter
- c.1192-17A>G Single submitter
- c.1289+15T>C Single submitter
- c.1290-15A>T Single submitter
- c.138-4T>A Single submitter
- c.615+16A>G Single submitter
- c.79+11C>T Single submitter
- c.80-15T>A Single submitter
- c.844-18CCA[3] Single submitter
- c.*88G>T Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Ala239Ser Single submitter Inborn genetic diseases
- p.Asp37= Single submitter
- p.Cys269= Single submitter
- p.Gln567= Single submitter
- p.Glu417= Single submitter
- p.Gly423= Single submitter
- p.His152= Single submitter
- p.Leu206= Single submitter
- p.Leu609= Single submitter
- p.Met353Thr Single submitter
- p.Pro176= Single submitter
- p.Ser216= Single submitter
- p.Tyr358Cys Single submitter hyperthyroxinemia, familial dysalbuminemic
Uncertain significance 95
- p.Ala324Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala387Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala83Gly Multiple submitters hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Arg105His Multiple submitters hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Arg23Cys Multiple submitters hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Asp197Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp37Asn Multiple submitters hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Cys384Arg Multiple submitters hyperthyroxinemia, familial dysalbuminemic ⚠
- p.His27Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr491Met Multiple submitters hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Thr590Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val557Met Multiple submitters Analbuminemia ⚠
- c.1059-11A>G Single submitter hyperthyroxinemia, familial dysalbuminemic
- c.137+4A>C Single submitter hyperthyroxinemia, familial dysalbuminemic
- c.1429-9G>T Single submitter hyperthyroxinemia, familial dysalbuminemic
- c.1785+1G>A Single submitter
- c.*102_*108del Single submitter hyperthyroxinemia, familial dysalbuminemic
- c.*14A>C Single submitter hyperthyroxinemia, familial dysalbuminemic
- c.*209A>G Single submitter hyperthyroxinemia, familial dysalbuminemic
- c.*270C>G Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Ala150Ser Single submitter Inborn genetic diseases ⚠
- p.Ala188Val Single submitter ⚠
- p.Ala195Thr Single submitter Inborn genetic diseases ⚠
- p.Ala200Val Single submitter Inborn genetic diseases ⚠
- p.Ala344Val Single submitter ⚠
- p.Ala388= Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Ala552Val Single submitter Inborn genetic diseases ⚠
- p.Ala577= Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Arg105Cys Single submitter ⚠
- p.Arg24Gln Single submitter Analbuminemia ⚠
- p.Arg509Gln Single submitter Inborn genetic diseases ⚠
- p.Asn154Ser Single submitter Inborn genetic diseases ⚠
- p.Asn319Ser Single submitter Inborn genetic diseases ⚠
- p.Asp113Gly Single submitter Inborn genetic diseases ⚠
- p.Asp389Glu Single submitter Inborn genetic diseases ⚠
- p.Asp389Val Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Asp399Asn Single submitter ⚠
- p.Asp475Ala Single submitter Inborn genetic diseases ⚠
- p.Asp518Asn Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Asp587Gly Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Asp80Val Single submitter Inborn genetic diseases ⚠
- p.Cys393Arg Single submitter Inborn genetic diseases ⚠
- p.Cys77= Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Gln483Arg Single submitter ⚠
- p.Glu503Val Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Glu525Lys Single submitter ⚠
- p.Glu589Asp Single submitter Inborn genetic diseases ⚠
- p.Glu61Val Single submitter Inborn genetic diseases ⚠
- p.Gly109Cys Single submitter Inborn genetic diseases ⚠
- p.Gly596Cys Single submitter Inborn genetic diseases ⚠
- p.His129Arg Single submitter Inborn genetic diseases ⚠
- p.His27Gln Single submitter ⚠
- p.His464Tyr Single submitter Inborn genetic diseases ⚠
- p.His488Gln Single submitter Inborn genetic diseases ⚠
- p.His91Arg Single submitter ⚠
- p.Leu206Phe Single submitter Inborn genetic diseases ⚠
- p.Leu299Pro Single submitter ⚠
- p.Leu373Phe Single submitter ⚠
- p.Leu540Phe Single submitter Inborn genetic diseases ⚠
- p.Lys249Gln Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Lys305Gln Single submitter Inborn genetic diseases ⚠
- p.Lys305Glu Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Lys337Arg Single submitter ⚠
- p.Lys337Asn Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Lys549= Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Lys560= Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Lys569Arg Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Phe151Leu Single submitter Inborn genetic diseases ⚠
- p.Phe398= Single submitter hyperthyroxinemia, familial dysalbuminemic
- p.Phe398Ser Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Phe419Tyr Single submitter ⚠
- p.Phe533Leu Single submitter ⚠
- p.Pro176Leu Single submitter Inborn genetic diseases ⚠
- p.Pro363Thr Single submitter Inborn genetic diseases ⚠
- p.Pro403Thr Single submitter ⚠
- p.Pro408Ser Single submitter Inborn genetic diseases ⚠
- p.Pro445Leu Single submitter Inborn genetic diseases ⚠
- p.Ser478Cys Single submitter hyperthyroxinemia, familial dysalbuminemic ⚠
- p.Ser603Asn Single submitter Inborn genetic diseases ⚠
- p.Thr190Ile Single submitter Inborn genetic diseases ⚠
- p.Thr267Met Single submitter ⚠
- p.Thr520= Single submitter
- p.Thr520Ala Single submitter ⚠
- p.Thr92Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr356Cys Single submitter ⚠
- p.Tyr394Cys Single submitter ⚠
- p.Val259Ala Single submitter ⚠
- p.Val442Met Single submitter ⚠
- p.Val506Ala Single submitter Inborn genetic diseases ⚠
- p.Val506Met Single submitter Inborn genetic diseases ⚠
- p.Val600Leu Single submitter Inborn genetic diseases ⚠
- p.Val67Met Single submitter ⚠
- p.Val70Ile Single submitter ⚠
- p.Asn415Ile No assertion criteria ALB-related disorder ⚠
- p.Ser226Arg No assertion criteria ALB-related disorder ⚠