PROC — 470 ClinVar variants
All ClinVar germline PROC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →
34 Pathogenic · 24 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 43 Conflicting · 16 Benign · 10 Benign/Likely benign · 105 Likely benign · 187 Uncertain significance
Full PROC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 196
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 22
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PROC p.Ala178Pro
Likely pathogenic
Multiple submitters
Reduced protein C activity
-
PROC p.Ala309Thr
Pathogenic/Likely pathogenic
Multiple submitters
hereditary thrombophilia due to congenital protein C deficiency
-
PROC p.Arg211Gln
Pathogenic/Likely pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg211Trp
Pathogenic/Likely pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Arg220Gln
Pathogenic/Likely pathogenic
Multiple submitters
PROC-related disorder
-
PROC p.Arg220Trp
Pathogenic/Likely pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Arg32Cys
Pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg42His
Likely pathogenic
Multiple submitters
Deep venous thrombosis
-
PROC p.Arg51Cys
Pathogenic/Likely pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg57Trp
Pathogenic/Likely pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
- PROC p.Met406Val Likely pathogenic Multiple submitters
-
PROC p.Pro210Leu
Pathogenic/Likely pathogenic
Multiple submitters
hereditary thrombophilia due to congenital protein C deficiency
-
PROC p.Ser312Leu
Pathogenic/Likely pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Thr340Met
Pathogenic
Multiple submitters
PROC-related disorder
-
PROC p.Val367Met
Likely pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Val76Met
Pathogenic/Likely pathogenic
Multiple submitters
Abnormal thrombosis
-
PROC p.Arg328His
Likely pathogenic
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Gly125Arg Likely pathogenic Single submitter
-
PROC p.Ile445Met
Likely pathogenic
Single submitter
PROC-related disorder
-
PROC p.Val26Met
Likely pathogenic
Single submitter
Reduced protein C activity
-
PROC p.Asp170Tyr
Likely pathogenic
No assertion criteria
Reduced protein C activity
-
PROC p.Pro289Leu
Pathogenic
No assertion criteria
thrombophilia due to protein C deficiency, autosomal recessive
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PROC p.Ala251Val
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala388Val
Conflicting
Single submitter
Reduced protein C activity
-
PROC p.Arg189Trp
Conflicting
Single submitter
PROC-related disorder
-
PROC p.Asn371Asp
Conflicting
Single submitter
PROC-related disorder
-
PROC p.Cys175Tyr
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Cys183Phe
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Cys426Tyr
Conflicting
Single submitter
PROC-related disorder
-
PROC p.Gln335His
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly324Ser
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly389Ala
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Gly392Arg Conflicting Single submitter
- PROC p.Gly403Arg Conflicting Single submitter
-
PROC p.Gly433Ser
Conflicting
Single submitter
PROC-related disorder
-
PROC p.Lys235Gln
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Met385Ile
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Met385Thr
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Pro369Leu
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Tyr441His
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Val287Ile
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
Predictors lean, ClinVar uncertain 106
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PROC p.Ala163Ser
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg38Gln
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Arg40Cys
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Asp279Glu
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gln226Arg
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Glu191Gln
Uncertain significance
Multiple submitters
Deep venous thrombosis
-
PROC p.Gly18Ser
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Gly412Ser
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.His108Asn
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Ile243Thr
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ser124Arg
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Ser294Asn
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Ser54Cys
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Thr110Arg
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Trp414Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PROC p.Val11Met Uncertain significance Multiple submitters
-
PROC p.Ala240Thr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala306Ser
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala306Val
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala333Thr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala388Glu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala408Thr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg189Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg189Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROC p.Arg199Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg220Pro
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg264Thr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg271Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg272His
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Arg32His Uncertain significance Single submitter
-
PROC p.Arg348Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg356Cys
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg394Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg394Trp
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Asn384Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROC p.Asn431Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROC p.Asp203Asn
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Asp206Asn
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Asp209Glu Uncertain significance Single submitter
-
PROC p.Asp222Glu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Asp269His Uncertain significance Single submitter
-
PROC p.Asp279Asn
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Asp322Gly
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Asp393Asn
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Cys122Gly
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Cys140Ser
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Cys151Phe
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Cys183Arg
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Cys238Ser Uncertain significance Single submitter
-
PROC p.Cys373Ser
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gln332Glu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Glu154Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- PROC p.Glu277Gly Uncertain significance Single submitter
-
PROC p.Glu31Lys
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Glu31Val
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Glu349Gly Uncertain significance Single submitter
- PROC p.Glu372Gly Uncertain significance Single submitter
-
PROC p.Glu399Ala
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Glu399Lys
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly109Cys
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly116Arg
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly266Glu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly334Cys
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Gly392Ala Uncertain significance Single submitter
-
PROC p.Gly423Asp
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.His108Tyr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.His149Arg
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.His370Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.His52Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ile213Thr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Ile243Phe Uncertain significance Single submitter
-
PROC p.Ile315Met
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Ile315Thr Uncertain significance Single submitter
-
PROC p.Leu212Pro
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Leu249Pro
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Leu303Arg
Uncertain significance
Single submitter
Reduced protein C activity
-
PROC p.Leu325Ile
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Lys193Gln Uncertain significance Single submitter
-
PROC p.Lys233Asn
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Lys275Asn
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Lys350Glu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Met406Lys
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Phe362Ile
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Pro164His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROC p.Pro210Ser
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Pro405Ser Uncertain significance Single submitter
- PROC p.Ser141Trp Uncertain significance Single submitter
-
PROC p.Ser374Gly
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Ser421Asn Uncertain significance Single submitter
-
PROC p.Ser84Pro
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Thr110Met Uncertain significance Single submitter
-
PROC p.Thr201Ile
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Thr250Ala Uncertain significance Single submitter
-
PROC p.Thr337Ile
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Thr436Ile
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Thr79Arg
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Trp225Gly
Uncertain significance
Single submitter
Deep venous thrombosis
- PROC p.Trp342Arg Uncertain significance Single submitter
- PROC p.Val359Phe Uncertain significance Single submitter
-
PROC p.Val381Ala
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Val381Leu Uncertain significance Single submitter
-
PROC p.Val417Leu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Val420Met
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Val87Ile
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Asp256Glu
Uncertain significance
No assertion criteria
PROC-related disorder
-
PROC p.Pro186Ser
Uncertain significance
No assertion criteria
PROC-related disorder
Predictors split 49
The independent predictors disagree with each other — read with care.
-
PROC p.Arg129His
Uncertain significance
Multiple submitters
PROC-related disorder
-
PROC p.Arg194Cys
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Arg328Cys
Pathogenic/Likely pathogenic
Multiple submitters
PROC-related disorder
-
PROC p.Arg38Trp
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly114Arg
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Gly169Trp
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal recessive
-
PROC p.Ile445Leu
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Phe181Val
Pathogenic/Likely pathogenic
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Phe46Leu
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Pro100Arg
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Pro321Leu
Pathogenic/Likely pathogenic
Multiple submitters
Deep venous thrombosis
-
PROC p.Trp414Ser
Uncertain significance
Multiple submitters
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Ala163Pro Uncertain significance Single submitter
-
PROC p.Ala301Thr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala388Gly
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala43Thr
Conflicting
Single submitter
PROC-related disorder
-
PROC p.Ala69Thr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Ala69Val
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg440Cys
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Arg57Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Asp77Gly
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Glu267Lys
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Glu56Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROC p.Gly107Arg
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly169Arg
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly334Ser
Conflicting
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Gly423Ser
Likely pathogenic
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.His244Tyr
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.His288Tyr
Likely pathogenic
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Leu168Pro
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Leu265Phe
Conflicting
Single submitter
PROC-related disorder
-
PROC p.Leu55Gln
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Leu55Pro
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Leu7Pro
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Leu9Pro
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Lys70Glu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Phe130Leu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Phe181Leu Uncertain significance Single submitter
-
PROC p.Phe358Leu
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Pro289His Uncertain significance Single submitter
-
PROC p.Pro96Ser
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
- PROC p.Ser223Ile Uncertain significance Single submitter
-
PROC p.Ser292Gly
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Thr413Ala
Conflicting
Single submitter
Reduced protein C activity
-
PROC p.Trp273Cys
Uncertain significance
Single submitter
Reduced protein C activity
-
PROC p.Val417Met
Uncertain significance
Single submitter
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Val438Ala
Uncertain significance
Single submitter
Reduced protein C activity
-
PROC p.Gln226His
Pathogenic
No assertion criteria
thrombophilia due to protein C deficiency, autosomal dominant
-
PROC p.Glu327Val
Uncertain significance
No assertion criteria
thrombophilia due to protein C deficiency, autosomal dominant
All PROC variants
Pathogenic 34
- p.Arg199Ter Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg32Cys Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys111fs Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Gln174Ter Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.His149fs Multiple submitters PROC-related disorder
- p.Met406Ile Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Thr340Met Multiple submitters PROC-related disorder ⚠
- p.Val339Met Multiple submitters Inborn genetic diseases
- c.400+1G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.400+2T>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.400+2T>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.400+5G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.400+5G>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg185fs Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg348Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys106Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys120Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys238Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys373fs Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Glu134Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly125Cys Single submitter
- p.Gly239fs Single submitter thrombophilia due to protein C deficiency, autosomal recessive
- p.Lys234fs Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Trp187Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Trp225Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Trp2Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Trp444Arg Single submitter
- p.Gln226His No assertion criteria thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly114Cys No assertion criteria thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly343Ser No assertion criteria thrombophilia due to protein C deficiency, autosomal recessive
- p.Gly423fs No assertion criteria thrombophilia due to protein C deficiency, autosomal dominant
- p.His149Pro No assertion criteria thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro289Leu No assertion criteria thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Trp444Cys No assertion criteria thrombophilia due to protein C deficiency, autosomal dominant
Pathogenic/Likely pathogenic 24
- p.Ala309Thr Multiple submitters hereditary thrombophilia due to congenital protein C deficiency ⚠
- p.Arg211Gln Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg211Trp Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Arg220Gln Multiple submitters PROC-related disorder ⚠
- p.Arg220Trp Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Arg271Trp Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg272Cys Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg328Cys Multiple submitters PROC-related disorder ⚠
- p.Arg42Cys Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg51Cys Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg57Trp Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Asp297His Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive
- p.Asp401Asn Multiple submitters Inborn genetic diseases
- p.Cys160Ser Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Glu202Ter Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Glu62Ala Multiple submitters PROC-related disorder
- p.Leu303fs Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Phe181Val Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Pro210Leu Multiple submitters hereditary thrombophilia due to congenital protein C deficiency ⚠
- p.Pro321Leu Multiple submitters Deep venous thrombosis ⚠
- p.Pro405fs Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Ser312Leu Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Trp14Ter Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Val76Met Multiple submitters Abnormal thrombosis ⚠
Likely pathogenic 51
- p.Ala178Pro Multiple submitters Reduced protein C activity ⚠
- p.Arg42His Multiple submitters Deep venous thrombosis ⚠
- p.Cys147Tyr Multiple submitters Reduced protein C activity
- p.Gly239Arg Multiple submitters Deep venous thrombosis
- p.Gly433Asp Multiple submitters PROC-related disorder
- p.Met406Val Multiple submitters ⚠
- p.Phe118Leu Multiple submitters Deep venous thrombosis
- p.Val367Met Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- c.238-1G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.238-2A>G Single submitter Thromboembolism
- c.262+1G>A Single submitter
- c.262+5G>A Single submitter
- c.679-2A>G Single submitter PROC-related disorder
- c.797-2A>T Single submitter Reduced protein C activity
- c.-97_-91delGTTATGG Single submitter
- p.Ala301Val Single submitter thrombophilia due to protein C deficiency, autosomal recessive
- p.Arg158Trp Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg264fs Single submitter
- p.Arg264Gly Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg328His Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg42Leu Single submitter
- p.Cys373Arg Single submitter Thrombophilia 3 due to protein C deficiency
- p.Cys387Tyr Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys398Trp Single submitter
- p.Gln395Ter Single submitter
- p.Glu154del Single submitter
- p.Glu67Lys Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly109Arg Single submitter
- p.Gly125Arg Single submitter ⚠
- p.Gly128Arg Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly145Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly423Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.His288Tyr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ile300Met Single submitter
- p.Ile445Met Single submitter PROC-related disorder ⚠
- p.Leu330Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Lys457fs Single submitter Reduced protein C activity
- p.Pro461fs Single submitter Reduced protein C activity
- p.Ser141Pro Single submitter Reduced protein C activity
- p.Thr340Lys Single submitter Reduced protein C activity
- p.Trp126Ter Single submitter
- p.Trp225Arg Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Trp414Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Trp444Ter Single submitter Reduced protein C activity
- p.Tyr166Cys Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Tyr432fs Single submitter
- p.Val26Met Single submitter Reduced protein C activity ⚠
- p.Ala251Glu No assertion criteria Reduced protein C activity
- p.Asp170Tyr No assertion criteria Reduced protein C activity ⚠
- p.Gly146Cys No assertion criteria thrombophilia due to protein C deficiency, autosomal dominant
- p.His253Gln No assertion criteria Reduced protein C activity
Conflicting classifications of pathogenicity 43
- c.400+5G>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.536-6C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.678+10G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.70+13C>G Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.71-17C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.-21-5C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.-54G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ala251Val Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala388Val Single submitter Reduced protein C activity ⚠
- p.Ala43Thr Single submitter PROC-related disorder ⚠
- p.Arg189Trp Single submitter PROC-related disorder ⚠
- p.Arg440Cys Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Asn355= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asn371Asp Single submitter PROC-related disorder ⚠
- p.Asp77Gly Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys101Ter Single submitter PROC-related disorder
- p.Cys175Tyr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys183Phe Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys426Tyr Single submitter PROC-related disorder ⚠
- p.Gln335His Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Glu424= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly324Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly334Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly389Ala Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly392Arg Single submitter ⚠
- p.Gly403Arg Single submitter ⚠
- p.Gly433= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly433Ser Single submitter PROC-related disorder ⚠
- p.Leu265Phe Single submitter PROC-related disorder ⚠
- p.Leu442= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Lys193del Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Lys235Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Met385Ile Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Met385Thr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Phe10= Single submitter thrombophilia due to protein C deficiency, autosomal recessive
- p.Pro369Leu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ser119_Ser124del Single submitter Inborn genetic diseases
- p.Ser292Arg Single submitter Inborn genetic diseases
- p.Thr296= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Thr413Ala Single submitter Reduced protein C activity ⚠
- p.Tyr441His Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Val241= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Val287Ile Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
Benign 16
- c.400+13G>A Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- c.535+44A>G Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- c.678+111G>T Multiple submitters
- c.-21-121C>T Multiple submitters
- c.-50A>T Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp256= Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive
- p.Ser141= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- c.237+301G>A Single submitter
- c.238-272A>G Single submitter
- c.400+9del Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.400+9dup Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.535+13dup Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.536-214A>G Single submitter
- c.536-316G>C Single submitter
- c.797-245T>C Single submitter
- c.797-345T>G Single submitter
Benign/Likely benign 10
- c.263-14G>T Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- c.-33C>T Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Ala309= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg133= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp297= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys387= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro210= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro22= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro308= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro369= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
Likely benign 105
- c.263-4G>A Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- c.400+19T>G Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- c.400+6G>T Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys238= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Glu154= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly404= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu270= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro366= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- c.237+15G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.237+18C>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.238-12CT[2] Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.262+14A>G Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.262+18C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.262+20C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.263-19A>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.400+29C>G Single submitter
- c.401-12C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.401-20G>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.535+10C>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.535+10C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.535+15A>G Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.535+9C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.536-19C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.678+20C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.679-13C>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.679-19T>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.679-7A>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.70+10C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.70+15C>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.70+7C>G Single submitter
- c.71-16C>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.71-16C>G Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.796+10G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.796+16del Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.797-20C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.797-4G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.-21-37G>A Single submitter thrombophilia due to protein C deficiency, autosomal recessive
- c.-21-74C>T Single submitter thrombophilia due to protein C deficiency, autosomal recessive
- p.Ala163= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ala251= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ala333= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ala388= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg189= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg220= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg32= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asn144= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asn371= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asn44= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp113= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp206= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp222= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp269= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp279= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp393= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp443= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys147= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Cys426= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gln335= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Glu284= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Glu327= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Glu329Lys Single submitter
- p.Glu48= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Glu62= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly116= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly156= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly400= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly412= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly427= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.His176= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.His411= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.His446= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ile300= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ile445= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu104= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu278= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu338= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu360= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu391= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu429= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu47= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Lys234= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Lys259Arg Single submitter Inborn genetic diseases
- p.Lys260= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Phe286= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Phe358= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Phe410= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Phe66= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro100= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro177= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro20= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Pro245= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ser161= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ser17= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ser30= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ser312= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ser323= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ser374= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Thr13= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Tyr432= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Val359= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Val407= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Val420= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.-51G>A No assertion criteria PROC-related disorder
- c.*78del No assertion criteria PROC-related disorder
- p.Pro96= No assertion criteria PROC-related disorder
Uncertain significance 187
- c.263-28T>G Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive
- c.-32G>A Multiple submitters
- c.*146T>C Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Ala163Ser Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala178= Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg129His Multiple submitters PROC-related disorder ⚠
- p.Arg194Cys Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Arg38Gln Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Arg38Trp Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg40Cys Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Asp279Glu Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gln226Arg Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Glu191Gln Multiple submitters Deep venous thrombosis ⚠
- p.Gly114Arg Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Gly116Cys Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly169Trp Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Gly18Ser Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Gly412Ser Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.His108Asn Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Ile243Thr Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ile445Leu Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Phe46Leu Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Pro100Arg Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ser124Arg Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Ser294Asn Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Ser54Cys Multiple submitters thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Thr110Arg Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Trp414Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp414Ser Multiple submitters thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Val11Met Multiple submitters ⚠
- c.262+5G>C Single submitter
- c.262+6T>G Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.400+9G>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.678+9C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.70+12C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.-150_-149delGT Single submitter
- c.-18G>T Single submitter
- c.-21-5_-21-3del Single submitter
- c.-52C>T Single submitter
- c.-55C>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.-77C>A Single submitter
- c.*152T>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.*170G>T Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.*176T>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.*220G>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.*72C>A Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- c.*81T>C Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ala163Pro Single submitter ⚠
- p.Ala240Thr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala301Thr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala306Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala306Val Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala309Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Ala333Thr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala388Glu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala388Gly Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala408Thr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala69Thr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ala69Val Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg189Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg189Gly Single submitter Inborn genetic diseases ⚠
- p.Arg199Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg211Leu Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg220Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg264Lys Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Arg264Thr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg271Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg272His Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg32His Single submitter ⚠
- p.Arg348Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg356Cys Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg394Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg394Trp Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Arg57Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Asn144_Gly145delinsLys Single submitter PROC-related disorder
- p.Asn384Ser Single submitter Inborn genetic diseases ⚠
- p.Asn431Ser Single submitter Inborn genetic diseases ⚠
- p.Asp113_Ile115del Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp203Asn Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Asp206Asn Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Asp209Glu Single submitter ⚠
- p.Asp222Glu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Asp269His Single submitter ⚠
- p.Asp279Asn Single submitter thrombophilia due to protein C deficiency, autosomal recessive ⚠
- p.Asp322Gly Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Asp393Asn Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys101Gly Single submitter Inborn genetic diseases
- p.Cys122Gly Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys140Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys151Phe Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys183Arg Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Cys238Ser Single submitter ⚠
- p.Cys373Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gln207_Val208insGluAspGln Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gln226= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gln332Glu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Glu154Lys Single submitter Inborn genetic diseases ⚠
- p.Glu267Lys Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Glu277Gly Single submitter ⚠
- p.Glu31Lys Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Glu31Val Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Glu349Gly Single submitter ⚠
- p.Glu372Gly Single submitter ⚠
- p.Glu399Ala Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Glu399Lys Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Glu56Gln Single submitter Inborn genetic diseases ⚠
- p.Glu62del Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Gly107Arg Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly109Cys Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly116Arg Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly169Arg Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly266Glu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly334Cys Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Gly392Ala Single submitter ⚠
- p.Gly423Asp Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.His108Tyr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.His149Arg Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.His244Tyr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.His370Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.His52Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ile213Thr Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ile243Phe Single submitter ⚠
- p.Ile315Met Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ile315Thr Single submitter ⚠
- p.Leu142Pro Single submitter
- p.Leu168Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Leu212Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Leu23= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu249Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Leu262Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu303Arg Single submitter Reduced protein C activity ⚠
- p.Leu325Ile Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Leu416= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Leu55Gln Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Leu55Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Leu7Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Leu9Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Lys193Gln Single submitter ⚠
- p.Lys233Asn Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Lys235del Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Lys275Asn Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Lys350Glu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Lys70Glu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Met406Lys Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Phe130Leu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Phe130Ser Single submitter
- p.Phe181Leu Single submitter ⚠
- p.Phe358Leu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Phe362Ile Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Pro164His Single submitter Inborn genetic diseases ⚠
- p.Pro210Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Pro289His Single submitter ⚠
- p.Pro405Ser Single submitter ⚠
- p.Pro96Ser Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ser141Trp Single submitter ⚠
- p.Ser223Ile Single submitter ⚠
- p.Ser292Gly Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ser374Gly Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Ser421Asn Single submitter ⚠
- p.Ser84Pro Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Thr110Met Single submitter ⚠
- p.Thr201Ile Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Thr250Ala Single submitter ⚠
- p.Thr337Ile Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Thr436Ile Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Thr79Arg Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Trp225Gly Single submitter Deep venous thrombosis ⚠
- p.Trp273Cys Single submitter Reduced protein C activity ⚠
- p.Trp342Arg Single submitter ⚠
- p.Trp422Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Tyr344_Ser346del Single submitter
- p.Tyr432Ter Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Val359Phe Single submitter ⚠
- p.Val368Gly Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Val381Ala Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Val381Leu Single submitter ⚠
- p.Val417Leu Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Val417Met Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Val420Met Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Val434_Tyr435insTer Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Val438Ala Single submitter Reduced protein C activity ⚠
- p.Val87Ile Single submitter thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Val94= Single submitter thrombophilia due to protein C deficiency, autosomal dominant
- p.Asp256Glu No assertion criteria PROC-related disorder ⚠
- p.Glu284del No assertion criteria Reduced protein C activity
- p.Glu327Val No assertion criteria thrombophilia due to protein C deficiency, autosomal dominant ⚠
- p.Pro186Ser No assertion criteria PROC-related disorder ⚠