HAMP — 86 ClinVar variants
All ClinVar germline HAMP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
4 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 5 Conflicting · 4 Benign · 1 Benign/Likely benign · 44 Likely benign · 24 Uncertain significance
Full HAMP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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HAMP p.Thr31Met
Conflicting
Single submitter
hereditary hemochromatosis
Predictors lean, ClinVar uncertain 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HAMP p.Arg56Gln
Uncertain significance
Multiple submitters
HAMP-related disorder
-
HAMP p.Thr22Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HAMP p.Ala43Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HAMP p.Arg55Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HAMP p.Arg59Gln
Uncertain significance
Single submitter
hemochromatosis type 2B
-
HAMP p.Arg75Gly
Uncertain significance
Single submitter
hemochromatosis type 2B
-
HAMP p.Arg75Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HAMP p.Gln33Lys
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HAMP p.Leu34Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
HAMP p.Lys83Arg
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HAMP p.Met52Thr
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HAMP p.Pro39Leu
Uncertain significance
Single submitter
hereditary hemochromatosis
- HAMP p.Thr61Asn Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
-
HAMP p.Arg59Gly
Uncertain significance
Multiple submitters
hereditary hemochromatosis
-
HAMP p.Cys70Arg
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HAMP p.Cys73Tyr
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HAMP p.His62Arg
Likely pathogenic
Single submitter
hemochromatosis type 2B
-
HAMP p.Arg59Pro
Pathogenic
No assertion criteria
hemochromatosis type 2B
All HAMP variants
Pathogenic 4
- c.148_150+1del No assertion criteria Hemochromatosis, juvenile, digenic
- p.Arg56Ter No assertion criteria hemochromatosis type 2B
- p.Arg59Pro No assertion criteria hemochromatosis type 2B ⚠
- p.Gly32fs No assertion criteria hemochromatosis type 2B
Pathogenic/Likely pathogenic 1
- c.-25G>A Multiple submitters hereditary hemochromatosis
Likely pathogenic 3
- p.Arg75Ter Multiple submitters hemochromatosis type 2B
- p.His62Arg Single submitter hemochromatosis type 2B ⚠
- p.Met1Thr Single submitter
Conflicting classifications of pathogenicity 5
- c.150+7G>A Single submitter hereditary hemochromatosis
- c.91-1G>A Single submitter hereditary hemochromatosis
- p.Phe63= Single submitter hemochromatosis type 2B
- p.Thr31Met Single submitter hereditary hemochromatosis ⚠
- p.Thr84= Single submitter hemochromatosis type 2B
Benign 4
- c.91-251A>G Multiple submitters
- c.91-297G>A Multiple submitters
- c.91-66C>T Multiple submitters
- c.150+12A>C Single submitter hereditary hemochromatosis
Benign/Likely benign 1
- p.Gly71Asp Multiple submitters hemochromatosis type 1
Likely benign 44
- c.150+7G>C Multiple submitters hereditary hemochromatosis
- p.Cys70= Multiple submitters hereditary hemochromatosis
- c.150+15G>A Single submitter hereditary hemochromatosis
- c.150+16A>G Single submitter hereditary hemochromatosis
- c.150+19C>T Single submitter hereditary hemochromatosis
- c.151-10C>T Single submitter hereditary hemochromatosis
- c.151-14C>T Single submitter hereditary hemochromatosis
- c.151-15C>T Single submitter hereditary hemochromatosis
- c.151-16C>G Single submitter hereditary hemochromatosis
- c.151-18T>C Single submitter hereditary hemochromatosis
- c.151-7C>T Single submitter hereditary hemochromatosis
- c.90+10C>A Single submitter hereditary hemochromatosis
- c.90+11A>G Single submitter hereditary hemochromatosis
- c.90+12G>A Single submitter hereditary hemochromatosis
- c.90+17C>G Single submitter hereditary hemochromatosis
- c.90+8C>T Single submitter hereditary hemochromatosis
- c.91-12C>T Single submitter hereditary hemochromatosis
- c.91-14T>A Single submitter hereditary hemochromatosis
- c.91-16C>A Single submitter hereditary hemochromatosis
- c.91-16C>G Single submitter hereditary hemochromatosis
- c.91-17C>A Single submitter hereditary hemochromatosis
- c.91-19C>A Single submitter
- p.Ala47= Single submitter hereditary hemochromatosis
- p.Ala9= Single submitter hereditary hemochromatosis
- p.Arg46= Single submitter hereditary hemochromatosis
- p.Cys69= Single submitter hereditary hemochromatosis
- p.Cys72= Single submitter hereditary hemochromatosis
- p.Gln33= Single submitter hereditary hemochromatosis
- p.Gln38= Single submitter hereditary hemochromatosis
- p.Glu36= Single submitter hereditary hemochromatosis
- p.Gly24= Single submitter hereditary hemochromatosis
- p.Gly32= Single submitter hereditary hemochromatosis
- p.Ile7= Single submitter hereditary hemochromatosis
- p.Leu12= Single submitter hereditary hemochromatosis
- p.Leu14= Single submitter hereditary hemochromatosis
- p.Leu15= Single submitter hereditary hemochromatosis
- p.Leu16= Single submitter hereditary hemochromatosis
- p.Leu18= Single submitter hereditary hemochromatosis
- p.Leu21= Single submitter hereditary hemochromatosis
- p.Leu3= Single submitter hereditary hemochromatosis
- p.Leu34= Single submitter hereditary hemochromatosis
- p.Pro64= Single submitter hereditary hemochromatosis
- p.Ser76= Single submitter hereditary hemochromatosis
- p.Thr22= Single submitter hereditary hemochromatosis
Uncertain significance 24
- p.Arg56Gln Multiple submitters HAMP-related disorder ⚠
- p.Arg59Gly Multiple submitters hereditary hemochromatosis ⚠
- p.Thr22Ile Multiple submitters Inborn genetic diseases ⚠
- c.150+6C>T Single submitter hereditary hemochromatosis
- c.-1G>A Single submitter hemochromatosis type 2B
- p.Ala43Val Single submitter Inborn genetic diseases ⚠
- p.Arg55Gly Single submitter Inborn genetic diseases ⚠
- p.Arg59Gln Single submitter hemochromatosis type 2B ⚠
- p.Arg59Ter Single submitter hereditary hemochromatosis
- p.Arg75Gly Single submitter hemochromatosis type 2B ⚠
- p.Arg75Leu Single submitter Inborn genetic diseases ⚠
- p.Cys70Arg Single submitter hereditary hemochromatosis ⚠
- p.Cys72Ter Single submitter hereditary hemochromatosis
- p.Cys73Tyr Single submitter hereditary hemochromatosis ⚠
- p.Gln33Lys Single submitter hereditary hemochromatosis ⚠
- p.Leu16_Leu18del Single submitter hemochromatosis type 2B
- p.Leu17_Leu18del Single submitter hereditary hemochromatosis
- p.Leu18_Ala19insLeuLeuLeu Single submitter
- p.Leu34Ile Single submitter Inborn genetic diseases ⚠
- p.Lys77fs Single submitter
- p.Lys83Arg Single submitter hereditary hemochromatosis ⚠
- p.Met52Thr Single submitter hereditary hemochromatosis ⚠
- p.Pro39Leu Single submitter hereditary hemochromatosis ⚠
- p.Thr61Asn Single submitter ⚠