Sugi Variant

Sugi Variant/UNC13D

UNC13D — 1571 ClinVar variants

All ClinVar germline UNC13D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 487 flagged for review →

101 Pathogenic · 22 Pathogenic/Likely pathogenic · 52 Likely pathogenic · 72 Conflicting · 34 Benign · 26 Benign/Likely benign · 713 Likely benign · 551 Uncertain significance

Full UNC13D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 487

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

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

Predictors agree, ClinVar conflicts 27

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

Predictors lean, ClinVar uncertain 372

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 372

Predictors split 85

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

All UNC13D variants

Pathogenic 101

  • c.118-307G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1389+1G>A Multiple submitters UNC13D-related disorder
  • c.1596+1G>C Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.753+1G>T Multiple submitters UNC13D-related disorder
  • c.754-1G>C Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg1065Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg214Ter Multiple submitters autoinflammatory syndrome
  • p.Arg273Ter Multiple submitters UNC13D-related disorder
  • p.Arg610_Gln613del Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg680fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg782fs Multiple submitters UNC13D-related disorder
  • p.Arg899Ter Multiple submitters autoinflammatory syndrome
  • p.Asp236fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Cys255fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Gln251Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Glu616Gly Multiple submitters hereditary hemophagocytic lymphohistiocytosis ⚠
  • p.Leu794fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Ser574Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Tyr61fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Val210fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1447-2A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-2A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+1del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+37_1597-17del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1597-1G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2709+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2709+1G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.753+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ala730fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Arg1065fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Arg287fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Arg293fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Asp28fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Asp324fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Asp651fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Cys136fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln142fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln178fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln17Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln295Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln315Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln349Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln456Ter Single submitter
  • p.Gln463Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln496Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln51Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln538Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln590Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln609Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln688Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln707Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln736fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu1015fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu50Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu551fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu57fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu755fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu765Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu812Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gly149fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gly68fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gly770fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.His754fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ile19fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ile712_Gly713delinsSer Single submitter
  • p.Ile756fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu190fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu253fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu263fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu403Pro Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Leu491Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu556fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu821_Trp822insTer Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu826fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Lys1062fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Met204fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Phe1019fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Pro1021fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Pro425fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Pro453fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ser322_Trp323delinsPheHisAlaTyrThrThrTer Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ser358fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ser377fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ser415fs Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Ser420fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ser908fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Thr541fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Trp184Ter Single submitter UNC13D-related disorder
  • p.Trp260Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Trp588Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Trp649Ter Single submitter autoinflammatory syndrome
  • p.Tyr1006fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Tyr1006Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Tyr405Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Tyr84Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Val309fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Val608fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Val785fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Asn73fs No assertion criteria familial hemophagocytic lymphohistiocytosis 3
  • p.His586fs No assertion criteria familial hemophagocytic lymphohistiocytosis 3
  • p.Phe857Cys No assertion criteria familial hemophagocytic lymphohistiocytosis 3

Pathogenic/Likely pathogenic 22

  • c.1055+1G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.118-308C>T Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • c.1727+1G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1848+1G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.262-1G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2831-13G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.322-2A>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.570-2A>T Multiple submitters UNC13D-related disorder
  • p.Ala1018Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg256Ter Multiple submitters UNC13D-related disorder
  • p.Arg27fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg411fs Multiple submitters autoinflammatory syndrome
  • p.Arg414Cys Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Arg414Leu Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Arg83Ter Multiple submitters autoinflammatory syndrome
  • p.Gln174Ter Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • p.Gln307Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Gln598Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Gln738Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Glu603Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Leu54fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Tyr270Ter Multiple submitters familial hemophagocytic lymphohistiocytosis 3

Likely pathogenic 52

  • c.2447+2T>C Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2955-1G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.569+5G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Asn1050fs Multiple submitters hereditary hemophagocytic lymphohistiocytosis
  • c.117+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1173+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.118-2A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1298+2T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1446+1G>A Single submitter UNC13D-related disorder
  • c.153+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.154-1G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1544+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-2A>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-2A>G Single submitter UNC13D-related disorder
  • c.1848+1G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+2_1848+4del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2091+2T>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2447+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.258_261+16del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2625+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2625+2T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-2A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.3152-2A>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.321+1_321+2del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.321+2T>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.570-2A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.683+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.684-2A>G Single submitter UNC13D-related disorder
  • c.753+1del Single submitter UNC13D-related disorder
  • c.858+1G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.859-1G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.952-2A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Arg172fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gln157Ter Single submitter hereditary hemophagocytic lymphohistiocytosis
  • p.Gln97Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu1033fs Single submitter autoinflammatory syndrome
  • p.Glu167fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu393Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gly753Val Single submitter autoinflammatory syndrome ⚠
  • p.His1076fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.His754Pro Single submitter autoinflammatory syndrome ⚠
  • p.Ile640fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu1058Pro Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Leu605_Arg610del Single submitter autoinflammatory syndrome
  • p.Lys440_Met441insTer Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ser290Ter Single submitter
  • p.Ser398Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Trp509fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Tyr261Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Tyr270fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Val1003fs Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1299-1G>A No assertion criteria familial hemophagocytic lymphohistiocytosis 3

Conflicting classifications of pathogenicity 72

  • c.1174-15C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.118-9G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1389+12G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.154-9G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-13C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2368-5C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-13G>A Single submitter hereditary hemophagocytic lymphohistiocytosis
  • c.2553+12G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+5C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2554-13A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.261+8C>T Single submitter autoinflammatory syndrome
  • c.261+9G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2710-8C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.321+9G>A Single submitter autoinflammatory syndrome
  • c.389-13C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.569+10C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.614+1G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.683+12A>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.753+3G>A Single submitter autoinflammatory syndrome
  • c.858+12A>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.-260C>T Single submitter autoinflammatory syndrome
  • p.Ala59Thr Single submitter autoinflammatory syndrome ⚠
  • p.Ala717Thr Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala790= Single submitter autoinflammatory syndrome
  • p.Ala833= Single submitter autoinflammatory syndrome
  • p.Ala995Pro Single submitter autoinflammatory syndrome ⚠
  • p.Arg1023Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1087Gln Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg254Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg359His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg411Gln Single submitter autoinflammatory syndrome ⚠
  • p.Arg52= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Arg607Pro Single submitter UNC13D-related disorder ⚠
  • p.Arg668Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg727Gln Single submitter autoinflammatory syndrome ⚠
  • p.Asn943Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Asp324= Single submitter autoinflammatory syndrome
  • p.Asp546Gly Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Gln766Ter Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Glu1017Lys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Glu95dup Single submitter autoinflammatory syndrome
  • p.Gly1051Arg Single submitter autoinflammatory syndrome ⚠
  • p.Gly148= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Gly493Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Gly753= Single submitter autoinflammatory syndrome
  • p.Gly863Asp Single submitter autoinflammatory syndrome ⚠
  • p.His338= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.His586= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ile410Leu Single submitter autoinflammatory syndrome ⚠
  • p.Ile848Leu Single submitter autoinflammatory syndrome ⚠
  • p.Leu402= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Met204Val Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro271Ser Single submitter autoinflammatory syndrome ⚠
  • p.Pro33= Single submitter autoinflammatory syndrome
  • p.Pro33Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro38= Single submitter autoinflammatory syndrome
  • p.Pro49= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Pro619= Single submitter autoinflammatory syndrome
  • p.Pro8= Single submitter autoinflammatory syndrome
  • p.Pro991= Single submitter autoinflammatory syndrome
  • p.Ser377Arg Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ser398Leu Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ser747= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Thr542= Single submitter autoinflammatory syndrome
  • p.Thr76Met Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Tyr405= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Val210Gly Single submitter autoinflammatory syndrome ⚠
  • p.Val334Ile Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Val779Met Single submitter autoinflammatory syndrome ⚠
  • p.Val781Ile Single submitter autoinflammatory syndrome ⚠
  • p.Val91= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Val91Met Single submitter UNC13D-related disorder ⚠

Benign 34

Benign/Likely benign 26

  • c.1056-13C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.154-19G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.154-8T>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1992+5G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2091+16G>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2298+15C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2447+19C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2448-8dup Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2554-16C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2625+19C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2955-14G>C Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.569+19G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.570-18G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.951+13T>G Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.*326C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg527Trp Multiple submitters autoinflammatory syndrome
  • p.Arg928Cys Multiple submitters autoinflammatory syndrome
  • p.Glu1066= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.His1084= Multiple submitters autoinflammatory syndrome
  • p.Ile283Val Multiple submitters autoinflammatory syndrome
  • p.Leu302Phe Multiple submitters autoinflammatory syndrome
  • p.Leu684= Multiple submitters autoinflammatory syndrome
  • p.Lys867Glu Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Pro38Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Thr659= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Val537= Multiple submitters familial hemophagocytic lymphohistiocytosis 3

Likely benign 713

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

  • c.1055+47C>T Multiple submitters
  • c.1056-8C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1298+16C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1389+13C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1389+14G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1447-14C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1447-8C>G Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.153+17T>C Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1596+15C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1849-14C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2299-16C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2448-13G>C Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.262-18C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.262-7C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2625+38G>A Multiple submitters
  • c.321+7T>G Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.322-8C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.570-19C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.614+10C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.684-4G>A Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.684-5C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.753+17A>G Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.754-49G>A Multiple submitters
  • c.952-14C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.*64C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Ala720= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg682= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Asp1013= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Asp58= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Glu1017= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Glu379= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Glu575= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Gly1010= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Gly406= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.His311= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.His742= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Leu180= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Leu344= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Leu786= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Pro1088= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Pro166= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Ser290= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Ser345= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Thr267= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Thr404= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Tyr1006= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Val481= Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.1055+13C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1055+15C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1055+16T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1055+17G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1056-13C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1056-14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1056-4G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1056-6C>T Single submitter
  • c.1056-9C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1056-9C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.117+16C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.117+17T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.117+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.117+4_117+7dup Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.117+9G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1173+10C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1173+10C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1173+11A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1173+14G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1173+16C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1173+17A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1173+9G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1174-11T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1174-12C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1174-15del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1174-20del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1174-6C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1174-9G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.118-14A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.118-15C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.118-19T>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.118-321C>G Single submitter
  • c.118-326G>A Single submitter
  • c.118-327C>T Single submitter
  • c.118-4G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.118-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1298+13C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1298+13C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1298+19C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1299-15_1299-14del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1299-15C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1299-17C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1299-4G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1299-7C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1299-8T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1299-9A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1389+10T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1389+11C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1389+16T>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1389+16T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1389+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1390-11T>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1390-14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1390-19A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1390-20C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1390-5G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1390-6C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1390-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1446+11G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1446+14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1446+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1446+20G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1447-10G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1447-17C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1447-4G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1447-4G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1447-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.153+10dup Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.153+14_153+28del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.153+20G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.153+8_153+11del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.154-10T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.154-11G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.154-11G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.154-12C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.154-13C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.154-17G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1544+10T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1544+19C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1544+19C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1544+20G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-10T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-12C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-13G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-15C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-16G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-19C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-19C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-4C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-4C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1545-8T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+11C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+11C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+12C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+13_1596+15del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+13C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+15C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+16G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+18C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1596+9del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1597-10T>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1597-13C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1597-17A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1597-6T>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1727+15A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1727+16A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1727+17T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1727+18T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1727+20T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1727+8G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-10C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-12G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-12G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-13C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-15C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-4C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1728-5C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+12G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+12G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+13C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+14_1848+19del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+17G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+8C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+9G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+9G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1849-14del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1849-15C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1849-17C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1849-5C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1849-7C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1992+13C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1992+16C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1992+17G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1992+19G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1992+8A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1993-11C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1993-14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1993-15C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1993-4C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1993-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1993-8C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2091+12G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2091+7C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2091+8C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2092-7G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2092-7G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2092-9C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+11C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+12G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+16G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+16G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+18A>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+18A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+19_2298+20del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+19C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+20A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2298+9T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2299-15G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2299-15G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2299-19_2299-17del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2299-8_2299-7del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2367+10C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2367+16G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2367+17C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2367+8G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2368-15C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2368-18C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2368-19_2368-18delinsCT Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2368-6C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2368-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2447+11G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2447+14C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2447+14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2447+19C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-12del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-17C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-18_2448-14dup Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-18C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-5C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-7_2448-6insA Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-7G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-7G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-8_2448-7insT Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2448-8C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+11C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+11C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+11C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+13G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+14T>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+15C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+7G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+8A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2554-16C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2554-18C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2554-19C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2554-5C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2554-7C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.261+11C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.261+17C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.261+17C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.261+18C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.261+19C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.261+8C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.261+8C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.262-17G>C Single submitter
  • c.262-18C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.262-18C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.262-20C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.262-9C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2625+13_2625+14insAA Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2625+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2625+18G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2625+8del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2625+9T>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2709+16C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2709+19A>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2710-18C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2710-19C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2710-36TGACCCTGC[3] Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2831-11C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2831-17C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2831-4C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2954+13C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2954+7G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2954+8G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-11T>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-12C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-16del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-18C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-18C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-19G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-19G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-4G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-5C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-6C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-7C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-8C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-9_2955-8del Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2955-9T>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.3151+12C>T Single submitter
  • c.3151+13C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.3151+14C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.3151+15A>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.3151+16G>A Single submitter
  • c.3151+17G>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.3151+17G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.3151+18G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.3152-10C>G Single submitter familial hemophagocytic lymphohistiocytosis 3

Uncertain significance 551

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

  • c.1992+4C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.2091+2_2091+3dup Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.683+4C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.859-3C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.*317C>T Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • c.*3G>A Multiple submitters autoinflammatory syndrome
  • p.Ala1048Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1085Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2Val Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala339Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala397Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala581Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala604Val Multiple submitters Inborn genetic diseases
  • p.Ala638Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala679Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala695Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala748Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala748Val Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala834Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala842Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1023His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg102Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg102Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1041His Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg1061Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1061Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1065Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1074Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg1075Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1075Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1077fs Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg1077Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg11Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg154Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg156Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg16Cys Multiple submitters Inborn genetic diseases
  • p.Arg16His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg172Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg227His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg234Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg23Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg23His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg24Gly Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg24His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg286Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg286Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg293Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg386Trp Multiple submitters UNC13D-related disorder ⚠
  • p.Arg414His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg427Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg427Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg507His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg52Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg52Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg536Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg536Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg570Cys Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg570His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg587Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg587Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg607Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Arg610His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg645Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg645Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg66His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg66Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg680Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg680Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg682Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg682Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg709Trp Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg757Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg837Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg83Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg921Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg993His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1050Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp241Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Asp252Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp423_Ser424del Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Asp501Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp690Asn Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Asp704Gly Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Cys112Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Cys699Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Gln1083Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gln384His Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Gln688Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Gln836Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Glu1015Gly Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Glu193Gly Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Glu446Lys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Glu603Lys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Glu683Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Glu706Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu725Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu725Gly Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Glu733Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu831Lys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Glu94Lys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Gly1027Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly130Glu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Gly148Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly238Asp Multiple submitters Inborn genetic diseases
  • p.Gly406Ser Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly483Asp Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Gly713Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His201Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.His224Tyr Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.His301Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.His303Tyr Multiple submitters autoinflammatory syndrome ⚠
  • p.His96Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1054Val Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ile110Val Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ile519Thr Multiple submitters Inborn genetic diseases
  • p.Ile677Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Leu1057Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Leu419Val Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Leu457Met Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Leu724Gln Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Leu752Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu932Pro Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Lys342Glu Multiple submitters UNC13D-related disorder ⚠
  • p.Lys511Thr Multiple submitters Inborn genetic diseases
  • p.Met351Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met697Val Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Met795Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe1070Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe336Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe347Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Phe470Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Phe662Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Phe985Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro1021Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1043Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro1049Ala Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro1053Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro1088Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1090Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1090Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro182Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro265Arg Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro296Leu Multiple submitters autoinflammatory syndrome ⚠
  • p.Pro485Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro591Leu Multiple submitters autoinflammatory syndrome ⚠
  • p.Pro716Ser Multiple submitters familial hemophagocytic lymphohistiocytosis 3
  • p.Pro8Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Pro93Thr Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ser212Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser290Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ser294Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ser310Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser401Phe Multiple submitters autoinflammatory syndrome ⚠
  • p.Ser422Leu Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Thr1008Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1045Met Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Thr187Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr541Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr542Met Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Thr600Met Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Thr643Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr740Met Multiple submitters autoinflammatory syndrome ⚠
  • p.Tyr804Cys Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Val1003Met Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Val300Met Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Val533Met Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Val731Met Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Val760Ile Multiple submitters familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Val760Leu Multiple submitters Inborn genetic diseases ⚠
  • c.1055+3G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1055+5G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.117+143A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.117+19G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1174-3C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.118-309C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1389+6G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1544+20G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1544+6C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1848+2dup Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1849-3C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1992+5G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.1992+6G>A Single submitter
  • c.2298+3A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2447+5G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2553+6A>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2554-10T>C Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.2554-11A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.321+3A>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.321+6C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.388+3G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.389-3C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.389-55C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.570-6A>C Single submitter autoinflammatory syndrome
  • c.615-3C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.683+4C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.683+5G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.683+5G>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.684-19G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.684-3C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.753+5G>A Single submitter
  • c.858+8G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.859-3C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.-115C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.-158C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.-176G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.-229C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.-278C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.*18G>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.*502C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.*535A>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.*621C>T Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.*663C>A Single submitter familial hemophagocytic lymphohistiocytosis 3
  • c.*692C>G Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ala1011Asp Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala1018Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala1085Asp Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala1085Gly Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala233Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala318= Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Ala318Val Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala352Glu Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala443Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala452Thr Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala461Val Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala525Val Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala606Val Single submitter Inborn genetic diseases ⚠
  • p.Ala611Pro Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala611Thr Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala630Val Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala644Thr Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala681Asp Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala717Val Single submitter Inborn genetic diseases ⚠
  • p.Ala790Pro Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala832Val Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala842Val Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala934Pro Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Ala989Thr Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg102Pro Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1041Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1065Gly Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1072Thr Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1075Gln Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg1087Trp Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg11Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg11His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg154Gln Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg156Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg16Gly Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Arg172His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg172Pro Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg172Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg214Gln Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg227Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg234Trp Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg23Leu Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg249Gly Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg249Lys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg24Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg24Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg25_Val26insArg Single submitter
  • p.Arg254His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg254Leu Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg256Gly Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg25Thr Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg266Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg266His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg273Gln Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Arg359Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg359Leu Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg386Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg411Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg412Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg433Lys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg433Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg507Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg527Gln Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg536Gly Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg536Trp Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg576Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg587His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg607Gly Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg607Trp Single submitter familial hemophagocytic lymphohistiocytosis 3
  • p.Arg610Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg668His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg66Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg680Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg680Leu Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg682His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg682Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg727Trp Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg757His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg761Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg761His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg782Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg837His Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg889Pro Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg966Gln Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg993Cys Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg993Leu Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠
  • p.Arg993Ser Single submitter familial hemophagocytic lymphohistiocytosis 3 ⚠