Sugi Variant

Sugi Variant/PRF1

PRF1 — 732 ClinVar variants

All ClinVar germline PRF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 302 flagged for review →

56 Pathogenic · 44 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 57 Conflicting · 8 Benign · 15 Benign/Likely benign · 218 Likely benign · 288 Uncertain significance

Full PRF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 302

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 13

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

Predictors agree, ClinVar conflicts 33

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

Predictors lean, ClinVar uncertain 186

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 186

Predictors split 70

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

All PRF1 variants

Pathogenic 56

  • p.Arg225Trp Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg390Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Asp484fs Multiple submitters aplastic anemia
  • p.Asp62fs Multiple submitters aplastic anemia
  • p.Cys73fs Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Gly149Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly220Arg Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Gly220Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Gly306Cys Multiple submitters aplastic anemia
  • p.Leu17fs Multiple submitters Haemophagocytic syndrome with absent perforin expression
  • p.Leu314fs Multiple submitters aplastic anemia
  • p.Leu364fs Multiple submitters lymphoma, non-Hodgkin, familial
  • p.Lys285del Multiple submitters aplastic anemia
  • p.Pro22fs Multiple submitters aplastic anemia
  • p.Ser150Ter Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Thr51fs Multiple submitters aplastic anemia
  • p.Trp374Ter Multiple submitters PRF1-related disorder
  • p.Trp425fs Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Arg371Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp128fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp376fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp469fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp70fs Single submitter aplastic anemia
  • p.Cys23fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys257Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys31Gly Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Cys397fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln209Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln294fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln386Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln411Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln416Ter Single submitter aplastic anemia
  • p.Gln64Ter Single submitter aplastic anemia
  • p.Gln81Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Glu298_Arg299delinsAspCys Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Glu507Ter Single submitter aplastic anemia
  • p.Gly270fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly476fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His144fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His163fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His222Arg Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.His286fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu315fs Single submitter
  • p.Lys110fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Met1Leu Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Met1Thr Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro477fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser462Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr221Ile Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Trp328Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Trp483Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Trp95Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr167Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val111fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val339Gly Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val183Gly No assertion criteria familial hemophagocytic lymphohistiocytosis 2 ⚠

Pathogenic/Likely pathogenic 44

  • c.539+2T>A Multiple submitters aplastic anemia
  • p.Arg232Cys Multiple submitters aplastic anemia ⚠
  • p.Arg299Cys Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Arg356Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg361Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg410Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Arg410Trp Multiple submitters aplastic anemia ⚠
  • p.Arg54Cys Multiple submitters aplastic anemia ⚠
  • p.Asp313Val Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp70Tyr Multiple submitters aplastic anemia
  • p.Cys279Tyr Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Gln164Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Gln166Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Gln366Ter Multiple submitters aplastic anemia
  • p.Gln405Ter Multiple submitters aplastic anemia
  • p.Gln423Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Gln446Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Glu175Ter Multiple submitters aplastic anemia
  • p.Glu261Lys Multiple submitters aplastic anemia
  • p.Glu302Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Glu323fs Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Gly132Arg Multiple submitters aplastic anemia
  • p.Gly220Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Gly306Ser Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly317Arg Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.His222Gln Multiple submitters PRF1-related disorder
  • p.His269fs Multiple submitters aplastic anemia
  • p.His308fs Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.His398fs Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Leu189fs Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Leu360fs Multiple submitters aplastic anemia
  • p.Met1Ile Multiple submitters PRF1-related disorder
  • p.Met1Val Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Pro39His Multiple submitters aplastic anemia ⚠
  • p.Pro477_Leu478insTer Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ser301Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Thr450Met Multiple submitters aplastic anemia ⚠
  • p.Trp129Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Trp425Ter Multiple submitters aplastic anemia
  • p.Trp95fs Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr219Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr296Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr438Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Val50Met Multiple submitters aplastic anemia ⚠

Likely pathogenic 46

  • p.Asp340Asn Multiple submitters hereditary hemophagocytic lymphohistiocytosis ⚠
  • p.Asp491Asn Multiple submitters aplastic anemia ⚠
  • p.Asp49Glu Multiple submitters hereditary hemophagocytic lymphohistiocytosis ⚠
  • p.Cys73Tyr Multiple submitters aplastic anemia
  • p.Lys284_Lys287del Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Thr114delinsMetTer Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Val329fs Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • c.539+2T>G Single submitter aplastic anemia
  • p.Ala148Asp Single submitter ⚠
  • p.Ala415Pro Single submitter Haemophagocytic syndrome with absent perforin expression
  • p.Ala473_Thr474insTer Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg195fs Single submitter aplastic anemia
  • p.Asn78fs Single submitter aplastic anemia
  • p.Asp430Tyr Single submitter aplastic anemia
  • p.Asp49Val Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys242Ter Single submitter aplastic anemia
  • p.Cys257Gly Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys393Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys395Arg Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Cys408Ter Single submitter PRF1-related disorder
  • p.Cys525fs Single submitter aplastic anemia
  • p.Cys73Ser Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Gln153Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln160Ter Single submitter aplastic anemia
  • p.Gln394Ter Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Gln81fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln86Ter Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Glu175fs Single submitter autoinflammatory syndrome
  • p.Gly45Arg Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly45Glu Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly47Val Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly532fs Single submitter autoinflammatory syndrome
  • p.Leu13Pro Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu244fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu349Arg Single submitter
  • p.Leu349Pro Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Phe193Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro201Thr Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Pro392fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Trp129Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Trp328fs Single submitter aplastic anemia
  • p.Trp428Ter Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Trp461Ter Single submitter aplastic anemia
  • p.Trp95Cys Single submitter PRF1-related disorder
  • p.Tyr537fs Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Trp374Gly No assertion criteria familial hemophagocytic lymphohistiocytosis 2 ⚠

Conflicting classifications of pathogenicity 57

  • p.Ala148Gly Single submitter ⚠
  • p.Ala148Thr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala206Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala211Val Single submitter autoinflammatory syndrome ⚠
  • p.Ala27Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala437Val Single submitter Inborn genetic diseases ⚠
  • p.Arg119Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg123His Single submitter autoinflammatory syndrome ⚠
  • p.Arg225Gln Single submitter PRF1-related disorder ⚠
  • p.Arg232His Single submitter autoinflammatory syndrome ⚠
  • p.Arg28Cys Single submitter aplastic anemia ⚠
  • p.Arg357Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg385Trp Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg410Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg4Cys Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg55Cys Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg96= Single submitter autoinflammatory syndrome
  • p.Asn127Ser Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asn252Ser Single submitter autoinflammatory syndrome ⚠
  • p.Asp134= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys242Gly Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Cys377Tyr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Cys73Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Cys76Tyr Single submitter PRF1-related disorder ⚠
  • p.Gln209Pro Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gln481Pro Single submitter PRF1-related disorder ⚠
  • p.Gln540= Single submitter autoinflammatory syndrome
  • p.Glu253Lys Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Glu545fs Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Gly334Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His144Arg Single submitter Inborn genetic diseases ⚠
  • p.His182Arg Single submitter Inborn genetic diseases ⚠
  • p.His190Tyr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His269= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His269Arg Single submitter lymphoma, non-Hodgkin, familial ⚠
  • p.Ile266Val Single submitter aplastic anemia ⚠
  • p.Leu197= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu478Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu75= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Lys285Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Phe37= Single submitter autoinflammatory syndrome
  • p.Phe421Cys Single submitter aplastic anemia ⚠
  • p.Pro210= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro345Arg Single submitter hereditary hemophagocytic lymphohistiocytosis ⚠
  • p.Ser168Asn Single submitter autoinflammatory syndrome ⚠
  • p.Ser335Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr173= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr289Ala Single submitter autoinflammatory syndrome ⚠
  • p.Thr369Met Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr435= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr435Met Single submitter autoinflammatory syndrome
  • p.Thr450= Single submitter autoinflammatory syndrome
  • p.Thr63= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr296His Single submitter autoinflammatory syndrome
  • p.Val145Ala Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val348Met Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val38Met Single submitter familial hemophagocytic lymphohistiocytosis 2

Benign 8

  • c.539+61G>A Multiple submitters
  • c.539+82C>T Multiple submitters
  • c.*139C>A Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • c.*139C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • c.*209del Multiple submitters
  • c.*89C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • c.*96G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • c.*208_*209del Single submitter

Benign/Likely benign 15

  • c.539+22G>C Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ala121= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ala148= Multiple submitters autoinflammatory syndrome
  • p.Ala154= Multiple submitters autoinflammatory syndrome
  • p.Ala274= Multiple submitters lymphoma, non-Hodgkin, familial
  • p.Arg4His Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Asn205= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Cys176= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Cys242= Multiple submitters lymphoma, non-Hodgkin, familial
  • p.His300= Multiple submitters lymphoma, non-Hodgkin, familial
  • p.His347= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Lys32= Multiple submitters lymphoma, non-Hodgkin, familial
  • p.Ser234= Multiple submitters lymphoma, non-Hodgkin, familial
  • p.Val135Met Multiple submitters autoinflammatory syndrome
  • p.Val145= Multiple submitters autoinflammatory syndrome

Likely benign 218

  • c.539+13G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • c.540-12C>G Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • c.540-4G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ala2= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ala320= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ala44= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ala91= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Arg299= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Asn312= Multiple submitters Inborn genetic diseases
  • p.Asn330= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Asp490= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Asp70= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Glu323= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.His163= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.His182= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Leu12= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Leu315= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Leu441= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Leu5= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Leu80= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Phe316= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Pro22= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Pro333= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Pro459= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Pro69= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ser301= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Thr404= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Thr452= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Val254= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Val439= Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Val453Met Multiple submitters Inborn genetic diseases ⚠
  • c.539+11G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.539+11G>C Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.539+14C>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.539+17G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.539+20G>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.539+8C>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.540-10C>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.540-11T>C Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.540-13T>C Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.540-14C>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.540-18G>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.540-20A>G Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.540-5C>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*174T>C Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*207_*209del Single submitter
  • c.*366C>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala116= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala122= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala155= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala159= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala26= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala290= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala401= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala41= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala553= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg104= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg123= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg126= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg177= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg195= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg214= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg232= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg240= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg361= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg371= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg385= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg4= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg410= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg449= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg464= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg520= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg54= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg55= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg550= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg65= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg68= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asn127= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asn142= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asn218= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asn252= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp192= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp199= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp313= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp351= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp376= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp430= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp466= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp49= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Asp491= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys23= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys534= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Cys73= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln263= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln319= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln353= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln366= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln386= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln481= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Glu228= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Glu281= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Glu298= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Glu507= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly149= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly198= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly231= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly267= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly270= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly305= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly317= Single submitter
  • p.Gly334= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly337= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly40= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly413= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly429= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly444= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly445= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly476= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly504= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly530= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly57= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly9= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly99= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His105= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His151= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His293= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His308= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His398= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.His522= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ile10Val Single submitter Inborn genetic diseases
  • p.Ile268= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ile318= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ile422= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu11= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu15= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu189= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu200= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu229= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu239= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu244= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu246= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu249= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu258= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu343= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu346= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu349= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu360= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu364= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu417= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu471= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu478= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu480= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu535= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu542= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu543= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu8= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu90= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Lys194= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Lys32Arg Single submitter Inborn genetic diseases
  • p.Lys36= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Lys387= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Phe169= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Phe292= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Phe443= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro16= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro18= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro188= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro20= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro322= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro355= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro380= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro382= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro39= Single submitter
  • p.Pro527= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro60= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser113= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser291= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser331= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser378= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser388= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser451= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser56= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr107= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr114= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr136= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr140= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr171= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr208= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr237= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr241= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr25= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr250= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr289= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr295= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr309= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr369= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr420= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr496= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr72= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr179= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr219= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr341= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr367= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr521= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Tyr537= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val131= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val143= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val174= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val183= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val184= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val396= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val402= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val463= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val470= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val482= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val50= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val538= Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val554= Single submitter familial hemophagocytic lymphohistiocytosis 2

Uncertain significance 288

  • c.*46T>C Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ala211Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala235Val Multiple submitters PRF1-related disorder ⚠
  • p.Ala401Val Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg104Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg104His Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg119Trp Multiple submitters aplastic anemia ⚠
  • p.Arg123Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg126Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg177Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg177His Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg214Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg240Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg240His Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg28His Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg297Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg33Cys Multiple submitters aplastic anemia ⚠
  • p.Arg33His Multiple submitters aplastic anemia ⚠
  • p.Arg371Gly Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg371Lys Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg373Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Arg379Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg379Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg390Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg464Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg54His Multiple submitters PRF1-related disorder ⚠
  • p.Arg550Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg55His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg87Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg96Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn205Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp128Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp313Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp455Glu Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp70Asn Multiple submitters lymphoma, non-Hodgkin, familial ⚠
  • p.Cys497Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Cys510Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gln366Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu115Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu255Lys Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Glu275Ala Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Glu30Ala Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly198Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly270Ser Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly321Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly426Ala Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly445Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly476Glu Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly47Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly532Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly57Val Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly71Ser Multiple submitters PRF1-related disorder ⚠
  • p.His190Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.His202Tyr Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His203Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His269Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ile125Thr Multiple submitters autoinflammatory syndrome ⚠
  • p.Ile266Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu236Phe Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu314Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu441Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Lys161Glu Multiple submitters autoinflammatory syndrome
  • p.Phe181Ser Multiple submitters Inborn genetic diseases
  • p.Phe316Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro16Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro16Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro187Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Pro188Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro191Ala Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro22Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro382Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro477Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro546Ala Multiple submitters aplastic anemia ⚠
  • p.Ser234Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser29Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ser378Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 2
  • p.Ser388Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ser400Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr136Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr171Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr186Ile Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr241Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr250Met Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr25Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr289Met Multiple submitters autoinflammatory syndrome ⚠
  • p.Thr342Ile Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr403Ala Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr93Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val131Phe Multiple submitters autoinflammatory syndrome ⚠
  • p.Val19Ile Multiple submitters familial hemophagocytic lymphohistiocytosis 2 ⚠
  • c.539+4A>G Single submitter
  • c.539+5G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.540-1G>T Single submitter
  • c.-109G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.-134A>C Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.-41C>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.-53C>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.-82G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*112G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*176A>T Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*193A>G Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*367G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*376G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*441G>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*486T>C Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*521C>A Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*540T>C Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*559T>G Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*664A>G Single submitter familial hemophagocytic lymphohistiocytosis 2
  • c.*715T>C Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala109Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala118Ser Single submitter ⚠
  • p.Ala118Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala121Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala196Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala206Asp Single submitter ⚠
  • p.Ala226Asp Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala26Val Single submitter Inborn genetic diseases ⚠
  • p.Ala274Val Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ala276Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala327Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala359Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala415Gly Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala41Thr Single submitter ⚠
  • p.Ala424Thr Single submitter ⚠
  • p.Ala434Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ala473Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala523Thr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg119Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg28Gly Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg297Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg357Trp Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg373Gly Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Arg375Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg379Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg385Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg464Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg520Cys Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg550Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg550Pro Single submitter Inborn genetic diseases
  • p.Arg65Lys Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg68Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg87His Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg96Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asn127Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn265His Single submitter autoinflammatory syndrome ⚠
  • p.Asp120Asn Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp128Tyr Single submitter
  • p.Asp134Glu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp165Glu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp165Gly Single submitter ⚠
  • p.Asp251Gly Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp376Gly Single submitter ⚠
  • p.Asp430Asn Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp484Asn Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Asp498Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys279Phe Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Cys381Tyr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Cys407Gly Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Cys534Tyr Single submitter ⚠
  • p.Gln160Pro Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln423Pro Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gln485Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gln499His Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Glu281Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu447Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly132Trp Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Gly248Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly334Asp Single submitter autoinflammatory syndrome ⚠
  • p.Gly384Ala Single submitter ⚠
  • p.Gly399Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly413Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly413Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly429Glu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly475Glu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly47Cys Single submitter ⚠
  • p.Gly504Val Single submitter
  • p.Gly515Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly530Glu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly544Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly83Asp Single submitter autoinflammatory syndrome ⚠
  • p.Gly83Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Gly9Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His144Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His151Leu Single submitter ⚠
  • p.His202Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His203Asn Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His222Leu Single submitter ⚠
  • p.His24Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His347_Val348del Single submitter
  • p.His347Asn Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His398Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His514Asp Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.His514Gln Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ile216Met Single submitter Inborn genetic diseases ⚠
  • p.Ile216Thr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ile216Val Single submitter ⚠
  • p.Ile224Thr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ile422Thr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ile460Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu12_Leu15del Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Leu12Val Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu350Pro Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu427Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu471Phe Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu478Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu493Phe Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu512Gln Single submitter
  • p.Leu529Met Single submitter lymphoma, non-Hodgkin, familial ⚠
  • p.Leu67Pro Single submitter ⚠
  • p.Leu6Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu7Phe Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu85Pro Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu88Met Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Leu92Phe Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Lys287Gln Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Lys36Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe204Leu Single submitter ⚠
  • p.Phe442Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro137Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro139Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro16Thr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro187Leu Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro18His Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro201Gln Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Pro201Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro22Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro345Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro345Thr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro355Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro355Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro355Ser Single submitter ⚠
  • p.Pro380Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro389Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro39Arg Single submitter ⚠
  • p.Pro409Leu Single submitter autoinflammatory syndrome ⚠
  • p.Pro477Ala Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro477Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro501Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro539Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro547Ser Single submitter ⚠
  • p.Pro60Ser Single submitter Inborn genetic diseases
  • p.Pro69Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Pro89Arg Single submitter ⚠
  • p.Ser112Thr Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ser150Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ser170Arg Single submitter
  • p.Ser207Phe Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Ser271Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser291del Single submitter
  • p.Ser301Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ser331Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ser378Arg Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Ser388Ile Single submitter aplastic anemia ⚠
  • p.Ser56Trp Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Thr107Pro Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr114Ile Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr173Lys Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr173Met Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr186Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr208Ser Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr25Ile Single submitter ⚠
  • p.Thr295Asn Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr404Ala Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr404Ile Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr450Lys Single submitter ⚠
  • p.Thr74Ile Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Thr93Ala Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Trp428Leu Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Trp428Ser Single submitter ⚠
  • p.Tyr325Cys Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Tyr325His Single submitter ⚠
  • p.Tyr438Cys Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Tyr438His Single submitter ⚠
  • p.Val135Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val147Met Single submitter ⚠
  • p.Val184Ile Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val264Ala Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val304Ala Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val348Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val38Leu Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val482Phe Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val48Met Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val50Leu Single submitter familial hemophagocytic lymphohistiocytosis 2
  • p.Val554Met Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val61Met Single submitter familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Arg225Pro No assertion criteria familial hemophagocytic lymphohistiocytosis 2 ⚠
  • p.Val264Ile No assertion criteria PRF1-related disorder ⚠