STX11 — 398 ClinVar variants
All ClinVar germline STX11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →
13 Pathogenic · 6 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 11 Conflicting · 18 Benign · 4 Benign/Likely benign · 126 Likely benign · 209 Uncertain significance
Full STX11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 132
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
STX11 p.Cys280Tyr
Conflicting
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu206Lys
Conflicting
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.His30Gln
Conflicting
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Leu9Arg
Conflicting
Single submitter
Inborn genetic diseases
-
STX11 p.Val197Met
Conflicting
Single submitter
autoinflammatory syndrome
Predictors lean, ClinVar uncertain 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
STX11 p.Arg4Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Asn205Ser
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asn248Ser
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp145His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Asp23Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Asp3Glu
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp53Asn
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gln176Arg
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu31Lys
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu36Gln
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.His144Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.His211Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Ile33Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Ile93Val
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Leu193Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Lys94Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Met143Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Phe281Cys
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Thr256Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Tyr255Ser
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Val34Met
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Ala125Thr
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
- STX11 p.Ala200Thr Uncertain significance Single submitter
-
STX11 p.Ala259Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Ala60Val
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Ala6Val
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg126Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Arg129Trp
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg201Gln
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg201Leu
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg210Ser
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg212Ser
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg216Ser
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg276Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Arg46Gly
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg64Gln
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asn133Asp
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asn133Lys
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asn147Thr
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asn156Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Asn273Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Asn55Ser
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asn87Thr
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp155Asn
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp16Asn
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp196Tyr
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp196Val
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp254Ala
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp32Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Asp38Glu
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp50Asn
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp53Gly
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp61His
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Cys285Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Cys285Ser
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gln148His
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gln18Arg
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gln268Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Glu109Lys
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu112Gln
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
- STX11 p.Glu208Gln Uncertain significance Single submitter
-
STX11 p.Glu218Gly
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu7Ala
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
- STX11 p.Glu98Gln Uncertain significance Single submitter
-
STX11 p.Glu98Lys
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gly119Cys
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gly22Arg
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gly257Asp
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gly97Ser
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.His225Arg
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.His39Tyr
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Ile127Val
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Ile167Val
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Ile33Met
Uncertain significance
Single submitter
autoinflammatory syndrome
-
STX11 p.Leu135Pro
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Leu135Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Leu204Ile
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Leu247Phe
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Leu41Pro
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Lys67Arg
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Met107Val
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Met143Val
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Met231Leu
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Phe26Ile
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Phe281Leu
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Pro120Arg
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Pro20Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Pro284Ala
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Ser12Ala
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Tyr146Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Val124Met
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Val188Met
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Val197Leu
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Val249Glu
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Val249Ile
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
Predictors split 32
The independent predictors disagree with each other — read with care.
-
STX11 p.Arg220Leu
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp145Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Asp196His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Gln131Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX11 p.Met76Thr
Uncertain significance
Multiple submitters
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg129Pro
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg141Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Arg154His
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Arg212Cys
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
- STX11 p.Arg84Gly Uncertain significance Single submitter
-
STX11 p.Arg96Trp
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asn248Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Asn69Lys
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp179Gly
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Asp223Ala
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu115Lys
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu213Gln
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu226Ala
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Glu54Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Gly97Arg
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Gly97Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.His211Arg
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
- STX11 p.Leu110Pro Uncertain significance Single submitter
-
STX11 p.Leu229Trp
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Leu9Pro
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Lys83Glu
Conflicting
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Met143Ile
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Met76Ile
Conflicting
Single submitter
Inborn genetic diseases
-
STX11 p.Phe72Leu
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Ser173Leu
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
-
STX11 p.Ser81Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX11 p.Trp186Cys
Uncertain significance
Single submitter
familial hemophagocytic lymphohistiocytosis 4
All STX11 variants
Pathogenic 13
- p.Glu25Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Leu194fs Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Leu58Pro Multiple submitters STX11-related disorder
- p.Trp186fs Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Ala200fs Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln164Ter Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln230fs Single submitter
- p.Gln250Ter Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu112Ter Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu150Ter Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser43fs Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val124fs Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln268Ter No assertion criteria familial hemophagocytic lymphohistiocytosis 4
Pathogenic/Likely pathogenic 6
- p.Arg216fs Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Gln131Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Gln162Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Ser28Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Tyr132Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Val233fs Multiple submitters hereditary hemophagocytic lymphohistiocytosis
Likely pathogenic 11
- p.Asp53fs Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Asn133fs Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Cys275fs Single submitter hereditary hemophagocytic lymphohistiocytosis
- p.Gln262fs Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu109Ter Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gly184fs Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.His118delinsArgGlyTer Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Lys158fs Single submitter
- p.Lys265fs Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser190fs Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Tyr269Ter Single submitter familial hemophagocytic lymphohistiocytosis 4
Conflicting classifications of pathogenicity 11
- p.Asp21= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Cys280Tyr Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu206Lys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.His30Gln Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Leu227= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu9Arg Single submitter Inborn genetic diseases ⚠
- p.Lys83Glu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Met76Ile Single submitter Inborn genetic diseases ⚠
- p.Ser88= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Thr74Met Single submitter autoinflammatory syndrome
- p.Val197Met Single submitter autoinflammatory syndrome ⚠
Benign 18
- p.Thr277Ala Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- c.*1150A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1335G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1525A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1793A>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2298C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2786T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3214C>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3345T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3599A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3749T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3780C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3855A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4141G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4361C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4373T>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*606C>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*882T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
Benign/Likely benign 4
- c.*70G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Arg49Gln Multiple submitters autoinflammatory syndrome
- p.Glu182= Multiple submitters autoinflammatory syndrome
- p.Val267Met Multiple submitters familial hemophagocytic lymphohistiocytosis 4
Likely benign 126
- p.Arg77= Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Asn243= Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Asp61= Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Cys275= Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Gln250= Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Glu226= Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Phe35= Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Ser28Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Thr136= Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- c.*101C>T Single submitter
- c.*1845C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3298T>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3670C>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*390T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4070C>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4283G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala113= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala114= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala123= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala134= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala142= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala149= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala195= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala202= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala239= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala266= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala60= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Arg129= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Arg141= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Arg163= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Arg210= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Arg64= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asn133= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asn192= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asp145= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asp187= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asp196= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asp240= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asp3= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asp32= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asp47= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Asp85= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Cys282= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Cys285= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln14= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln153= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln164= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln17= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln52= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln68= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu109= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu112= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu171= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu178= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu191= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu206= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu208= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu236= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu246= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu270Lys Single submitter
- p.Glu31= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gly119= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gly174= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gly97= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.His101= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.His118= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.His121= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.His144= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.His211= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.His225= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.His30= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ile161= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ile207= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ile40= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ile82= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ile89= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu11= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu135= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu194= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu204= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu215= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu217= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu234= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu247= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu286= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu41= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu44= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu5= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu57= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu58= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu65= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu79= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Lys108= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Lys13= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Lys198= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Lys260= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Lys287= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Lys63= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Phe181= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Phe19= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Pro120= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Pro274= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Pro29= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser12= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser122= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser128= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser173= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser190= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser219= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ser81= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Thr138= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Thr252= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Thr256= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Thr277= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Thr37= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Thr74= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Thr86= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Tyr146= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val124= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val172= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val233= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val235= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val244= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val249= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val253= Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Val267= Single submitter familial hemophagocytic lymphohistiocytosis 4
Uncertain significance 209
- c.*179A>G Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Arg220Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg4Gln Multiple submitters Inborn genetic diseases
- p.Arg4Leu Multiple submitters Inborn genetic diseases ⚠
- p.Asn205Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asn248Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp145His Multiple submitters Inborn genetic diseases ⚠
- p.Asp145Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp196His Multiple submitters Inborn genetic diseases ⚠
- p.Asp23Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp3Glu Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp53Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gln131Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln176Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu31Lys Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu36Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.His144Gln Multiple submitters Inborn genetic diseases ⚠
- p.His211Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ile33Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile93Val Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Leu135Phe Multiple submitters Inborn genetic diseases
- p.Leu193Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu9del Multiple submitters autoinflammatory syndrome
- p.Lys272del Multiple submitters familial hemophagocytic lymphohistiocytosis 4
- p.Lys94Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met143Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met76Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Phe281Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Thr256Ser Multiple submitters Inborn genetic diseases ⚠
- p.Tyr255Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Val34Met Multiple submitters familial hemophagocytic lymphohistiocytosis 4 ⚠
- c.-3A>C Single submitter
- c.-5G>A Single submitter autoinflammatory syndrome
- c.*1028C>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1046C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1141T>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1213T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1338C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1339G>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1421A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1425C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1426G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1428T>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1463C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1469T>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1477C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1514T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1521C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1542C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1571C>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1692C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1704G>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1825C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1832A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1846T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*1C>G Single submitter
- c.*2006T>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2216A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2252T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2378A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2389G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2517G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2569C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2592C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2665C>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2695G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2700G>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2709T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2758T>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2816C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2899C>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2920T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*295G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2982T>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*2A>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3214C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3277C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3347C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3418C>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3591C>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3690A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3705C>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3761G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*37A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*3835T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4146C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4195G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4250C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*428T>C Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*4345G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*549C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*6C>T Single submitter autoinflammatory syndrome
- c.*700C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*775G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*806A>G Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*893G>A Single submitter familial hemophagocytic lymphohistiocytosis 4
- c.*993C>T Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala125_Arg126delinsGly Single submitter
- p.Ala125Thr Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala203Gly Single submitter Inborn genetic diseases
- p.Ala232Val Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Ala259Thr Single submitter Inborn genetic diseases ⚠
- p.Ala60Val Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ala6Val Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ala90_Ala92del Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Arg126Leu Single submitter Inborn genetic diseases ⚠
- p.Arg129Pro Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg129Trp Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg141Cys Single submitter Inborn genetic diseases ⚠
- p.Arg154His Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg201Gln Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg201Leu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg210Ser Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg212Cys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg212Ser Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg216Ser Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg220Cys Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Arg276Leu Single submitter Inborn genetic diseases ⚠
- p.Arg276Pro Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Arg46Gly Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg64Gln Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Arg84Gly Single submitter ⚠
- p.Arg96Trp Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asn133Asp Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asn133Lys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asn147Thr Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asn156Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn248Lys Single submitter Inborn genetic diseases ⚠
- p.Asn273Asp Single submitter Inborn genetic diseases ⚠
- p.Asn55Ser Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asn69Lys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asn87Thr Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp155Asn Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp16Asn Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp179Gly Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp196Tyr Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp196Val Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp223Ala Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp254Ala Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp32Val Single submitter Inborn genetic diseases ⚠
- p.Asp38Glu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp50Asn Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp53Gly Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Asp61His Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Cys285Arg Single submitter Inborn genetic diseases ⚠
- p.Cys285Ser Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gln131Leu Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln148His Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gln153Pro Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Gln18Arg Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gln268Arg Single submitter Inborn genetic diseases ⚠
- p.Glu109Lys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu112Gln Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu115Lys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu208Gln Single submitter ⚠
- p.Glu213Gln Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu218Gly Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu226Ala Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu271del Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Glu54Gly Single submitter Inborn genetic diseases ⚠
- p.Glu7Ala Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Glu98Gln Single submitter ⚠
- p.Glu98Lys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gly119Cys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gly22Arg Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gly257Asp Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gly97Arg Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Gly97Asp Single submitter Inborn genetic diseases ⚠
- p.Gly97Ser Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.His211Arg Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.His225Arg Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.His39Tyr Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ile127Val Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ile167Val Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ile33Met Single submitter autoinflammatory syndrome ⚠
- p.Leu110Pro Single submitter ⚠
- p.Leu135Pro Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Leu135Val Single submitter Inborn genetic diseases ⚠
- p.Leu194Arg Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Leu204Ile Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Leu229Trp Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Leu247Phe Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Leu41Pro Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Leu9Pro Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Lys67Arg Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Met107Val Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Met143Ile Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Met143Val Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Met231Leu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Met231Thr Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Phe26Ile Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Phe281Leu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Phe72Leu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Pro120Arg Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Pro20Ser Single submitter Inborn genetic diseases ⚠
- p.Pro284Ala Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ser12Ala Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ser173Leu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Ser81Asn Single submitter Inborn genetic diseases ⚠
- p.Ter288Trp Single submitter familial hemophagocytic lymphohistiocytosis 4
- p.Trp186Cys Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Tyr146Cys Single submitter Inborn genetic diseases ⚠
- p.Val124Met Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Val188Met Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Val197Leu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Val249Glu Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Val249Ile Single submitter familial hemophagocytic lymphohistiocytosis 4 ⚠
- p.Val62Met Single submitter familial hemophagocytic lymphohistiocytosis 4