Sugi Variant

Sugi Variant/STXBP2

STXBP2 — 1192 ClinVar variants

All ClinVar germline STXBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 335 flagged for review →

44 Pathogenic · 12 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 56 Conflicting · 41 Benign · 30 Benign/Likely benign · 565 Likely benign · 398 Uncertain significance

Full STXBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 335

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 22

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

Predictors lean, ClinVar uncertain 239

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 239

Predictors split 74

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

All STXBP2 variants

Pathogenic 44

  • c.1247-1G>C Multiple submitters autoinflammatory syndrome
  • p.Arg405Gln Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Arg405Trp Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Pro477Leu Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • c.430-1G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ala237fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Asn450fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Asp90fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Cys110Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Cys180Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Cys44Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Cys45fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gln328Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gln335Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gln337Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gln432Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gln92Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Glu221Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Glu380fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Glu461fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gly359fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gly455fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.His203fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ile232del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Leu287fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Leu71fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Lys24fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Lys383fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Lys403fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Lys63fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Met373fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Pro113fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Pro95fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ser418fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Trp288Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Trp519Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Tyr140Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Tyr154Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Tyr186Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Tyr336Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Tyr75fs Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Tyr99Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ala236fs No assertion criteria HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE
  • p.Leu87fs No assertion criteria HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE

Pathogenic/Likely pathogenic 12

  • c.169+2T>G Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.87+2T>C Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.902+5G>A Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Arg65Gln Multiple submitters STXBP2-related disorder ⚠
  • p.Gln509Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Glu12fs Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Glu27fs Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Glu380Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Gly541Ser Multiple submitters STXBP2-related disorder
  • p.Gly566Asp Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Pro187Leu Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Tyr537Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 5

Likely pathogenic 46

  • c.1107+1G>C Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1356+1G>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.247-2A>C Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • c.247-2A>G Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1026+1G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+2T>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+2T>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-1G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+1G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+1G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+2T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-2A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+1G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.247-1G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.247-2_284del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-1G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+596_82delinsCAGCTCTGAGGCATGCCTAGCTGAGGCTATCCCACTGACCTCCGGTCTCAGTTTCCTCATCTGTAAAATGGAATCACTTTTTTCTAATCTCCCCCAATTAAAGGGGTTTGAGCTACAGACCGCCCTGCCTAGAGGAGAGAGTGGAGAGAAGTAACGGGGTGGCCCCGCCCAGCCACGTCCACTGTGTCATGTCCACTGTTATCAAGACGGCCAG Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+5G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.426_429+13del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+1G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+2T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.87+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.902+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.902+2T>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.960+1G>A Single submitter STXBP2-related disorder
  • c.960+1G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ala86fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Arg405Pro Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Asn415fs Single submitter STXBP2-related disorder
  • p.Gln427Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gln471Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gln85Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.His348fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ile404fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Leu394fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Leu77fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Pro139Arg Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ser218fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ser21fs Single submitter STXBP2-related disorder
  • p.Ser48Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Thr98fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Trp475Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Tyr551fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Val538fs Single submitter familial hemophagocytic lymphohistiocytosis 5

Conflicting classifications of pathogenicity 56

  • c.1026+3G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-10C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+13C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+4C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+7G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+12G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+11G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+19G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-30_326-23del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+7G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ala101= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ala253= Single submitter autoinflammatory syndrome
  • p.Ala274= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ala372Asp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala510= Single submitter autoinflammatory syndrome
  • p.Ala591Asp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg122His Single submitter autoinflammatory syndrome ⚠
  • p.Arg165His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg190Cys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg235Gln Single submitter autoinflammatory syndrome ⚠
  • p.Arg235Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg235Trp Single submitter ⚠
  • p.Arg459Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg459Trp Single submitter autoinflammatory syndrome ⚠
  • p.Arg465Cys Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Arg529Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp402Asn Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp485= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Cys158fs Single submitter STXBP2-related disorder
  • p.Glu12= Single submitter STXBP2-related disorder
  • p.Glu221Lys Single submitter Inborn genetic diseases
  • p.Glu305Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu378= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gly17Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly540= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gly541Cys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.His356Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu130Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu201Phe Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Lys523= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Met466Leu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Pro111= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Pro187= Single submitter autoinflammatory syndrome
  • p.Pro334Leu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Pro468Leu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Pro502= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Pro573Leu Single submitter STXBP2-related disorder ⚠
  • p.Ser454= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ter594TrpextTer? Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Thr107= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Thr248Met Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Thr318Met Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Thr557= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Tyr410= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Val487Met Single submitter autoinflammatory syndrome ⚠

Benign 41

Benign/Likely benign 30

  • c.1027-17CACCCTG[3] Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1247-10C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1356+18A>G Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1453-5G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1538+10C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1538+11G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1696+20A>G Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.246+18C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.246+19GT[3] Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.38-7C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.795-4C>T Multiple submitters autoinflammatory syndrome
  • c.960+18T>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.*12G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ala397= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ala433Val Multiple submitters autoinflammatory syndrome
  • p.Ala530= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Arg165= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Arg555Gly Multiple submitters autoinflammatory syndrome ⚠
  • p.Asn62Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Asp282= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Asp481= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Glu283= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.His203= Multiple submitters autoinflammatory syndrome
  • p.Ile526Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ile55= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Pro239= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Thr166Met Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Thr345Met Multiple submitters autoinflammatory syndrome ⚠
  • p.Tyr140= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Val205Ile Multiple submitters autoinflammatory syndrome

Likely benign 565

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1107+17G>C Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1108-10A>G Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1108-4G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1108-5C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1246+8G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1247-19G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1247-9G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1356+14G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1357-13G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1453-10C>T Multiple submitters autoinflammatory syndrome
  • c.1538+16C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1538+17G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.169+10C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.247-10C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.37+14C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.38-18C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.578+16A>C Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.578+17G>C Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.579-5G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.663+10C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.663+9G>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.664-19G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.794+19C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.902+12C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.902+19C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.902+20G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.903-18G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ala274Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ala433= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ala549= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Asn430= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Asp376= Multiple submitters autoinflammatory syndrome
  • p.Glu224= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Glu488= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ile104= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Leu147= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Leu330= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Leu371= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Leu425= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Phe249= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Pro139= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Pro477= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Pro95= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ser78= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Thr554= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Thr80= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Tyr401= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Val9= Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1026+10G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+11G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+11G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+15G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+17A>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+17A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+8C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+8C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1026+9G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-11G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-12T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-14C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-15C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-17C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-17C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-19C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-19C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-4G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-7C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-8C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+12_1107+27del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+15G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+16C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+16dup Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+17G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+17G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+9G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-11C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-12C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-13C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-14C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-14C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-16G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-18C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-19G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-19G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-20G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-46T>C Single submitter
  • c.1108-4G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-8G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-9T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1246+11G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1246+14G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1246+16A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1246+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1246+20A>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1246+7G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1246+8G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1247-11_1247-9del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1247-11C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1247-17C>G Single submitter
  • c.1247-18C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1247-4C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1247-7C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1247-9G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+10G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+13C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+18A>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+19T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+20G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+20G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+20G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-12C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-12C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-13G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-20C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-4G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-4G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-7C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+10G>A Single submitter
  • c.1452+13A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+17C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+18A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+18A>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+19G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+8G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-10C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-12C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-14C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-15C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-19C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-19C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-7C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-8G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-8G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1453-9G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+10C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+10C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+11G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+12G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+14G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+18C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+19C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+21_1538+26del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+7C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+7C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+9C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-11G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-13C>G Single submitter
  • c.1539-14C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-15C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-16C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-18T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-20T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-5C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1539-5C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+10C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+11G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+13_169+17dup Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+13G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+15C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+15C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+15C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+16C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+19_169+44del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.169+20G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1696+13G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1696+14A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1696+15C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1696+16T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1696+18G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1696+20_1696+27del Single submitter
  • c.1696+9C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1697-12G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1697-16C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1697-17C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1697-4A>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1697-9C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-11G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-11G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-12T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-13_170-12del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-13C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-15C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-15del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-16C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-18T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-20C>T Single submitter
  • c.170-4C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+13G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+15G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+16_246+19del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+16_246+21del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+17G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+19G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.246+262C>T Single submitter
  • c.246+9A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.247-14T>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.247-18G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.247-30C>A Single submitter
  • c.247-41G>T Single submitter
  • c.247-4C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.247-5C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.325+15C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.325+17T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.325+20G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.325+7G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.325+9G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-11C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-12G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-15C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-17C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-18A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-29C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-31G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.326-42G>C Single submitter
  • c.326-5C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+15G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+15G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+17G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+18G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+19C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+20C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+20C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.37+9C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.38-15C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.38-17C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.38-20C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+10G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+11G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+11G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+13C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+15C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+16A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+18C>G Single submitter
  • c.429+3_429+9dup Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+9_429+16del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+9C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+9C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+9del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-10C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-12C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-13C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-15C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-17G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-19C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-6G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-7C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-9C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+11_578+16dup Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+12_578+17del Single submitter
  • c.578+12A>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+12del Single submitter
  • c.578+16_578+17del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+17G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+18C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+7_578+8insGCCC Single submitter
  • c.578+7A>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+8C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+8C>G Single submitter
  • c.578+8C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+9C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+9C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+9C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-11C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-12C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-16C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-19_579-5del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-20G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-20G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-4C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-5G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-7C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.579-8C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.663+10C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.663+11_663+30del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.663+11G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.663+12T>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.663+19G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.663+7G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.663+8G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.663+8G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.664-11C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.664-13A>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.664-13A>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.664-20T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.664-6C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.664-7A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.664-8C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.664-9C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.794+10C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.794+17C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.794+17C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.794+20G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.794+20G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.794+8G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.794+9A>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.795-10T>A Single submitter familial hemophagocytic lymphohistiocytosis 5

Uncertain significance 398

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1356+5G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.1453-9G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.246+5C>G Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.87+3del Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.902+4C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • c.960+6G>T Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Ala162Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala204Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala211Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala214Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala251Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala253Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala274Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala321Val Multiple submitters Inborn genetic diseases
  • p.Ala397Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala423Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala429Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala486Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala503Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala8Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg120Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg122Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg161Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg165Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg167Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg192His Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg20Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Arg227Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg292His Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg308Gly Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg465His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg490Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg490Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg533Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg533Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg575Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asn62Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp262Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp395Gly Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp501Ala Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp501Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Cys353Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu112Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu170Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu267Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu290Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu527Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu552Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Glu558Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu558Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly220Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly270Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly270Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly379Glu Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly517Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.His434Arg Multiple submitters STXBP2-related disorder ⚠
  • p.Ile232Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile259Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile479Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile565Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ile68Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu172Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu409Phe Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu587Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Lys193Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Met33Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Met386Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Met466Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met539Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Met544Val Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Pro239Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Pro462Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ser152Asn Multiple submitters Inborn genetic diseases
  • p.Ser418Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ser458Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser507Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Thr178Met Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Thr216Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Thr304Met Multiple submitters familial hemophagocytic lymphohistiocytosis 5
  • p.Thr505Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Thr56Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr154Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr157Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Val127Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val279Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val487Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Val499Ile Multiple submitters familial hemophagocytic lymphohistiocytosis 5 ⚠
  • c.1026+16C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-11G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1027-3C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+3G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1107+6G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-3C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1108-482T>G Single submitter
  • c.1246+4G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1356+4C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1357-7C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1452+12C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+3G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1538+6G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1696+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.1697-3C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.170-2A>G Single submitter
  • c.246+5C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.247-33G>T Single submitter
  • c.247-3C>T Single submitter
  • c.325+18_325+19delinsCA Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.325+6T>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.38-3C>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+4C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+5G>A Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+5G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.429+5G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.430-14C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.578+11_578+12insCCCCCCCCCCCCC Single submitter
  • c.663+6G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.794+3C>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.795-14T>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.795-3C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.87+3A>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.88-3C>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.903-10T>G Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.960+4G>C Single submitter familial hemophagocytic lymphohistiocytosis 5
  • c.*7G>T Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ala101Val Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Ala149Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala181Ser Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala181Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala181Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala199Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala251Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala253Glu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala2Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala350Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala372Pro Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala377Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala396Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala397Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala400Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala503Ser Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala503Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala511Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala511Pro Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala511Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala514Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala524Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala528Ser Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala530Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala550Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ala582Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg120His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg161Trp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg167Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg167Pro Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg190His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg192Cys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg227_Ser228del Single submitter autoinflammatory syndrome
  • p.Arg227His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg227Leu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg227Ser Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg265Gly Single submitter ⚠
  • p.Arg275Gln Single submitter
  • p.Arg275Trp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg292Cys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg292Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg315Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg315Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg39Cys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg39His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg414Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg414Trp Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Arg439His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg474Cys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg529Trp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg575fs Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Arg575Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg575His Single submitter Inborn genetic diseases ⚠
  • p.Arg575Leu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Arg64Trp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asn155Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn415= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Asn430Ser Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asn450Ile Single submitter Inborn genetic diseases ⚠
  • p.Asn494Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asn522Lys Single submitter Inborn genetic diseases
  • p.Asp108His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp148Asn Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Asp197Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp234Glu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp255Glu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp282Asn Single submitter Inborn genetic diseases
  • p.Asp285His Single submitter Inborn genetic diseases ⚠
  • p.Asp285Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp286Glu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp298Asn Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Asp352Asn Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp481Asn Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp481Glu Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Asp485Asn Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp485Glu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp485Tyr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp49His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp501Glu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp578Asn Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp584_Lys585insAspLeuLysAlaLeuAsp Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Asp584Asn Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp60Asn Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Asp90= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Cys353Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Cys45Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln168Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln175Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln175Glu Single submitter ⚠
  • p.Gln184Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln229His Single submitter ⚠
  • p.Gln335Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln427Pro Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln471Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln509Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln509Glu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gln85= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gln92Leu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu112Lys Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Glu141Lys Single submitter ⚠
  • p.Glu224Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu224Lys Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Glu260Lys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu267Asp Single submitter ⚠
  • p.Glu273Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu273Lys Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Glu27Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu283Lys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu312Lys Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Glu339Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu420Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu467Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu484Lys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu488Asp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu488Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu53Asp Single submitter Inborn genetic diseases
  • p.Glu546Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu558Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Glu588Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu588Ter Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Glu59Asp Single submitter ⚠
  • p.Glu81Gly Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly119Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly194Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly220= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gly222Ala Single submitter
  • p.Gly359Ser Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly374Asp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly379Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly379Trp Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly445Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly446_Thr447insLys Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Gly452Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly455Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly517Cys Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly531Ala Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly54Ser Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly5Glu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Gly93Arg Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.His103Asn Single submitter Inborn genetic diseases ⚠
  • p.His346Leu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ile176Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ile259Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ile404Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ile526Leu Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ile535Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile565Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Ile590Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu135Phe Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu138His Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu156Phe Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu172Pro Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu209Gln Single submitter ⚠
  • p.Leu209Pro Single submitter ⚠
  • p.Leu257del Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Leu280Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu281Pro Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu326Val Single submitter Inborn genetic diseases ⚠
  • p.Leu340Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu425Pro Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu425Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu460Pro Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu495Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu534Ile Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Leu76Val Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Lys193Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Lys193Asn Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Lys208Gln Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Lys213Thr Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Lys225Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys23Arg Single submitter familial hemophagocytic lymphohistiocytosis 5 ⚠
  • p.Lys23Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys29= Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Lys301Pro Single submitter familial hemophagocytic lymphohistiocytosis 5
  • p.Lys302Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys324Arg Single submitter ⚠