FTH1 — 68 ClinVar variants
All ClinVar germline FTH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Conflicting · 9 Benign · 4 Benign/Likely benign · 11 Likely benign · 38 Uncertain significance
Full FTH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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FTH1 p.Asn112His
Uncertain significance
Single submitter
Inborn genetic diseases
- FTH1 p.Asp151Gly Uncertain significance Single submitter
-
FTH1 p.Asp172Asn
Uncertain significance
Single submitter
FTH1-related disorder
- FTH1 p.Gly97Arg Uncertain significance Single submitter
-
FTH1 p.His119Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- FTH1 p.Leu29Pro Uncertain significance Single submitter
-
FTH1 p.Leu57Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FTH1 p.Leu70Pro Uncertain significance Single submitter
-
FTH1 p.Lys173Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTH1 p.Lys69Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FTH1 p.Met38Val Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
-
FTH1 p.Asn126His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTH1 p.Lys54Arg
Benign/Likely benign
Multiple submitters
hemochromatosis type 5
- FTH1 p.Arg157Cys Conflicting Single submitter
- FTH1 p.Glu102Gln Uncertain significance Single submitter
-
FTH1 p.Glu148Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FTH1 p.His137Tyr Uncertain significance Single submitter
- FTH1 p.His58Tyr Uncertain significance Single submitter
-
FTH1 p.Leu57Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTH1 p.Lys125Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTH1 p.Ser164Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTH1 p.Tyr138Phe
Uncertain significance
Single submitter
hemochromatosis type 5
-
FTH1 p.Asp93Asn
Uncertain significance
No assertion criteria
FTH1-related disorder
All FTH1 variants
Pathogenic 2
- c.-164A>T No assertion criteria hemochromatosis type 5
- p.Ser164Ter No assertion criteria neurodegeneration with brain iron accumulation 9
Pathogenic/Likely pathogenic 1
- p.Leu170_Phe171insTer Multiple submitters neurodegeneration with brain iron accumulation 9
Likely pathogenic 1
- p.Leu156fs Single submitter neurodegeneration with brain iron accumulation 9
Conflicting classifications of pathogenicity 2
- c.*389A>G Single submitter retinitis pigmentosa
- p.Arg157Cys Single submitter ⚠
Benign 9
- c.387+12A>G Multiple submitters hemochromatosis type 5
- c.*222C>T Multiple submitters hemochromatosis type 5
- c.114+149C>T Single submitter
- c.115-263C>T Single submitter
- c.261+23_261+29dup Single submitter
- c.388-5T>C Single submitter hemochromatosis type 5
- p.Ala20= Single submitter hemochromatosis type 5
- p.Pro162= Single submitter
- p.Thr175= Single submitter
Benign/Likely benign 4
- c.*319G>A Multiple submitters hemochromatosis type 5
- p.His152= Multiple submitters
- p.Leu83= Multiple submitters
- p.Lys54Arg Multiple submitters hemochromatosis type 5 ⚠
Likely benign 11
- p.Ser17= Multiple submitters
- p.Ala19= Single submitter
- p.Arg80Gln Single submitter
- p.Asn110= Single submitter
- p.Asp124= Single submitter
- p.Asp43= Single submitter
- p.His137= Single submitter
- p.His66= Single submitter
- p.Leu36= Single submitter
- c.-162T>G No assertion criteria FTH1-related disorder
- c.*5C>T No assertion criteria FTH1-related disorder
Uncertain significance 38
- c.*312A>G Multiple submitters vitelliform macular dystrophy 2
- p.Asn126His Multiple submitters Inborn genetic diseases ⚠
- p.His137Arg Multiple submitters Inborn genetic diseases
- c.-136C>A Single submitter hemochromatosis type 5
- c.-14C>T Single submitter hemochromatosis type 5
- c.-2C>T Single submitter hemochromatosis type 5
- c.*159C>T Single submitter hemochromatosis type 5
- c.*165T>C Single submitter hemochromatosis type 5
- c.*336A>G Single submitter hemochromatosis type 5
- c.*396A>G Single submitter retinitis pigmentosa
- p.Ala100Lys Single submitter
- p.Ala161Val Single submitter Inborn genetic diseases
- p.Arg80Ter Single submitter
- p.Asn112His Single submitter Inborn genetic diseases ⚠
- p.Asp151Gly Single submitter ⚠
- p.Asp172Asn Single submitter FTH1-related disorder ⚠
- p.Cys91_Asp92delinsTer Single submitter
- p.Glu102Gln Single submitter ⚠
- p.Glu148Gln Single submitter Inborn genetic diseases ⚠
- p.Gly97Arg Single submitter ⚠
- p.His119Tyr Single submitter Inborn genetic diseases ⚠
- p.His137Tyr Single submitter ⚠
- p.His58Tyr Single submitter ⚠
- p.Ile146Val Single submitter
- p.Leu149Val Single submitter
- p.Leu29Pro Single submitter ⚠
- p.Leu57Ile Single submitter Inborn genetic diseases ⚠
- p.Leu57Val Single submitter Inborn genetic diseases ⚠
- p.Leu70= Single submitter hemochromatosis type 5
- p.Leu70Pro Single submitter ⚠
- p.Lys125Arg Single submitter Inborn genetic diseases ⚠
- p.Lys173Asn Single submitter Inborn genetic diseases ⚠
- p.Lys69Arg Single submitter Inborn genetic diseases ⚠
- p.Met38Val Single submitter ⚠
- p.Ser164Pro Single submitter Inborn genetic diseases ⚠
- p.Tyr138Phe Single submitter hemochromatosis type 5 ⚠
- p.Val111fs Single submitter
- p.Asp93Asn No assertion criteria FTH1-related disorder ⚠