CD36 — 293 ClinVar variants

All ClinVar germline CD36 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

14 Pathogenic · 7 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 25 Conflicting · 25 Benign · 2 Benign/Likely benign · 16 Likely benign · 175 Uncertain significance

Full CD36 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 78

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 50

The independent predictors disagree with each other — read with care.

All CD36 variants

Pathogenic 14

Pathogenic/Likely pathogenic 7

  • p.Gln262fs Multiple submitters platelet-type bleeding disorder 10
  • p.Ile399fs Multiple submitters platelet-type bleeding disorder 10
  • p.Ile410_Ile413del Multiple submitters platelet-type bleeding disorder 10
  • p.Leu381Ter Multiple submitters platelet-type bleeding disorder 10
  • p.Lys223fs Multiple submitters CD36-related disorder
  • p.Thr111fs Multiple submitters platelet-type bleeding disorder 10
  • p.Trp415fs Multiple submitters platelet-type bleeding disorder 10

Likely pathogenic 29

  • c.1254+1G>A Multiple submitters platelet-type bleeding disorder 10
  • c.430-2A>G Multiple submitters malaria, susceptibility to
  • p.Ile317fs Multiple submitters platelet-type bleeding disorder 10
  • p.Tyr62Ter Multiple submitters platelet-type bleeding disorder 10
  • p.Val411fs Multiple submitters platelet-type bleeding disorder 10
  • c.1126-1G>A Single submitter platelet-type bleeding disorder 10
  • c.1199+2T>C Single submitter platelet-type bleeding disorder 10
  • c.1200-1G>C Single submitter
  • c.1200-7_1208del Single submitter CD36-related disorder
  • c.1254+1G>C Single submitter platelet-type bleeding disorder 10
  • c.1255-1G>A Single submitter platelet-type bleeding disorder 10
  • c.1255-1G>C Single submitter CD36-related disorder
  • c.429+1G>A Single submitter platelet-type bleeding disorder 10
  • c.430-1G>A Single submitter
  • c.701+1G>C Single submitter
  • c.818+1G>T Single submitter platelet-type bleeding disorder 10
  • p.Ala384fs Single submitter CD36-related disorder
  • p.Cys272Ter Single submitter platelet-type bleeding disorder 10
  • p.Gln171fs Single submitter platelet-type bleeding disorder 10
  • p.Ile413fs Single submitter CD36-related disorder
  • p.Leu440fs Single submitter coronary heart disease, susceptibility to, 7
  • p.Lys36fs Single submitter platelet-type bleeding disorder 10
  • p.Ser127Ter Single submitter inherited bleeding disorder, platelet-type
  • p.Ser324Ter Single submitter platelet-type bleeding disorder 10
  • p.Thr197fs Single submitter platelet-type bleeding disorder 10
  • p.Val128fs Single submitter platelet-type bleeding disorder 10
  • p.Asn53fs No assertion criteria CD36-related disorder
  • p.Cys313Ter No assertion criteria CD36-related disorder
  • p.Trp54Ter No assertion criteria platelet-type bleeding disorder 10

Conflicting classifications of pathogenicity 25

  • c.1007-2A>G Single submitter platelet-type bleeding disorder 10
  • c.429+2T>C Single submitter CD36-related disorder
  • c.609+1G>A Single submitter CD36-related disorder
  • c.610-2A>G Single submitter platelet-type bleeding disorder 10
  • c.610-5T>C Single submitter platelet-type bleeding disorder 10
  • p.Arg386Trp Single submitter platelet-type bleeding disorder 10 ⚠
  • p.Asn151fs Single submitter platelet-type bleeding disorder 10
  • p.Asn220fs Single submitter platelet-type bleeding disorder 10
  • p.Asp184Asn Single submitter platelet-type bleeding disorder 10 ⚠
  • p.Asp282= Single submitter platelet-type bleeding disorder 10
  • p.Gln382Ter Single submitter platelet-type bleeding disorder 10
  • p.Gln74Ter Single submitter malaria, susceptibility to
  • p.Glu397fs Single submitter platelet-type bleeding disorder 10
  • p.Gly217Arg Single submitter platelet-type bleeding disorder 10 ⚠
  • p.Gly378Val Single submitter platelet-type bleeding disorder 10 ⚠
  • p.Leu360Ter Single submitter platelet-type bleeding disorder 10
  • p.Lys472fs Single submitter platelet-type bleeding disorder 10
  • p.Phe293= Single submitter platelet-type bleeding disorder 10
  • p.Pro191= Single submitter platelet-type bleeding disorder 10
  • p.Pro90Ser Single submitter inherited bleeding disorder, platelet-type ⚠
  • p.Ser468= Single submitter platelet-type bleeding disorder 10
  • p.Thr130= Single submitter platelet-type bleeding disorder 10
  • p.Tyr325Ter Single submitter platelet-type bleeding disorder 10
  • p.Val263fs Single submitter CD36-related disorder
  • p.Val401fs Single submitter platelet-type bleeding disorder 10

Benign 25

Benign/Likely benign 2

Likely benign 16

Uncertain significance 175