Sugi Variant

Sugi Variant/PROS1

PROS1 — 678 ClinVar variants

All ClinVar germline PROS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 271 flagged for review →

61 Pathogenic · 12 Pathogenic/Likely pathogenic · 68 Likely pathogenic · 44 Conflicting · 17 Benign · 5 Benign/Likely benign · 167 Likely benign · 304 Uncertain significance

Full PROS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 271

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 7

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

Predictors agree, ClinVar conflicts 21

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

Predictors lean, ClinVar uncertain 173

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 173

Predictors split 70

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

All PROS1 variants

Pathogenic 61

  • c.1870+1G>C Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.77-1G>C Multiple submitters PROS1-related disorder
  • p.Arg561Trp Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gln34Ter Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu402Ter Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Lys196Glu Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Lys84fs Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.1156-1G>A Single submitter
  • c.1324-9A>G Single submitter Thrombophilia with a likely monogenic cause
  • c.1870+1G>A Single submitter
  • c.1871-1G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1871-1G>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1871-2A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.470-2A>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.77-2A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+1G>A Single submitter
  • p.Asn418fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asn659fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asp176fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys121Tyr Single submitter
  • p.Cys247Ser Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Cys265fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys265Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys288Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys666Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys8Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln102Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln254Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln279Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln362Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln51fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu160Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu576Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu61Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu67del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly262fs Single submitter protein S deficiency
  • p.Gly489Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.His664fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ile397Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu289fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu382fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Lys237fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Lys274Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Met1Ile Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Met1Leu Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Met1Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Met640Thr Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Phe323fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Phe414fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Phe635_Tyr636insTer Single submitter protein S deficiency
  • p.Pro589fs Single submitter hereditary thrombophilia due to congenital protein S deficiency
  • p.Ser194Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser28Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser394fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Thr78fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Trp383Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Trp453Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Trp506Ter Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.-39C>T No assertion criteria protein S deficiency
  • p.Asn258Ser No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ter677Tyr No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant

Pathogenic/Likely pathogenic 12

  • c.1155+5G>A Multiple submitters PROS1-related disorder
  • c.235-2A>G Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.601+1G>A Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • c.76+2_76+3del Multiple submitters PROS1-related disorder
  • p.Arg355Cys Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg451Ter Multiple submitters PROS1-related disorder
  • p.Cys186Tyr Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys475Phe Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys639Tyr Multiple submitters protein S deficiency
  • p.Cys666Arg Multiple submitters PROS1-related disorder ⚠
  • p.Gln471Ter Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Tyr560Ter Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive

Likely pathogenic 68

  • c.-168C>T Multiple submitters protein S deficiency
  • p.Arg355His Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Cys228Trp Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • p.Leu17fs Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • c.1155+2T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1156-1G>C Single submitter
  • c.1156-2A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1323_1323+1del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.234+1G>C Single submitter
  • c.235-1G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.344_346+7del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.346+1G>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.346+2T>A Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.727+1G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.728-1G>A Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.728-1G>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.849+1G>C Single submitter
  • c.849+1G>T Single submitter
  • c.849+2T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.849+2T>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.850-1G>A Single submitter
  • c.965+2T>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Ala24fs Single submitter PROS1-related disorder
  • p.Arg111fs Single submitter
  • p.Arg515Cys Single submitter protein S deficiency
  • p.Arg515Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asn418Tyr Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Asp278Tyr Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Asp376Asn Single submitter protein S deficiency ⚠
  • p.Asp652Tyr Single submitter ⚠
  • p.Cys143Tyr Single submitter
  • p.Cys154Tyr Single submitter
  • p.Cys186Arg Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Cys199Arg Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Cys228Ter Single submitter
  • p.Cys256Ser Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Cys88fs Single submitter
  • p.Gln305Ter Single submitter protein S deficiency
  • p.Gln362Arg Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Glu469Ter Single submitter protein S deficiency
  • p.Glu47Ter Single submitter protein S deficiency
  • p.Glu55fs Single submitter
  • p.Glu67Lys Single submitter
  • p.Gly336Val Single submitter PROS1-related disorder
  • p.Gly429fs Single submitter protein S deficiency
  • p.Gly505fs Single submitter protein S deficiency
  • p.Gly52Arg Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Gly620Arg Single submitter
  • p.Gly621fs Single submitter PROS1-related disorder
  • p.Gly621Val Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.His346fs Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.His658_Asn659insHis Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Ile562Leu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu313fs Single submitter
  • p.Leu446Pro Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Leu526Ser Single submitter
  • p.Lys84_Tyr85insTer Single submitter PROS1-related disorder
  • p.Phe72Ser Single submitter protein S deficiency
  • p.Pro118Leu Single submitter protein S deficiency ⚠
  • p.Ser165fs Single submitter
  • p.Ser324Pro Single submitter protein S deficiency
  • p.Val257fs Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val527fs Single submitter
  • c.76+1G>A No assertion criteria protein S deficiency
  • p.Gly487Arg No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant
  • p.Leu12fs No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant
  • p.Phe635Ser No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Pro631fs No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant

Conflicting classifications of pathogenicity 44

  • c.1323+8T>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1644+4A>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.234+5G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.234+72T>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.346+15C>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.469+5G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.76+7A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+9C>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Ala341Thr Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Arg101Cys Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Arg233Lys Single submitter inherited retinal dystrophy ⚠
  • p.Arg316Cys Single submitter Incidental Discovery ⚠
  • p.Arg40Leu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg41Cys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg41His Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asn168Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asn195= Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Asn365Lys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asp157Gly Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys228= Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Cys267Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys475Tyr Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Cys88Tyr Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Glu283= Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Glu360Gly Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Glu67Ala Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Gly222Arg Single submitter ⚠
  • p.Gly357Arg Single submitter PROS1-related disorder ⚠
  • p.Gly459= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly95Glu Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Leu46Pro Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Leu584= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Met611Thr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Pro667Leu Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro76Leu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ser501Pro Single submitter hereditary thrombophilia due to congenital protein S deficiency ⚠
  • p.Ser569= Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Thr144Asn Single submitter inherited retinal dystrophy ⚠
  • p.Thr588Ala Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Thr78Met Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Trp149Cys Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Tyr234Cys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Tyr485Ser Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Val510Met Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠

Benign 17

  • c.1323+54T>C Multiple submitters
  • c.260-235G>A Multiple submitters
  • c.77-145G>A Multiple submitters
  • c.*520A>C Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • p.Pro667= Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.1155+4C>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1870+195A>T Single submitter
  • c.1871-263C>T Single submitter
  • c.234+127T>A Single submitter
  • c.234+169G>A Single submitter
  • c.260-4del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.470-11dup Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.728-20G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.728-8del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.76+4007C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+17A>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu16= Single submitter thrombophilia due to protein S deficiency, autosomal recessive

Benign/Likely benign 5

  • c.-62T>G Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • p.Asn498= Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln571= Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly482= Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ile344= Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive

Likely benign 167

  • c.1324-4T>G Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.234+11A>G Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.260-89T>C Multiple submitters
  • c.470-18A>T Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.601+18G>C Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+10C>A Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ala348= Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser347= Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.1155+12G>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1156-10T>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1156-19T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1156-20A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1156-4G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1156-6T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1156-8A>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1323+14C>T Single submitter
  • c.1324-16T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1324-6del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1492+14C>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1493-15C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1493-17T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1493-9T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1644+17C>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1644+18C>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1644+9A>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1645-13C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1645-14G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1645-6C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1645-8C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1870+13T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1871-10C>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1871-18A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.234+113T>G Single submitter
  • c.234+12T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.234+20A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.235-12T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.235-13T>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.235-16T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.235-17C>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.259+18C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.259+20A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.260-16T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.260-20A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.260-21_260-19del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.346+17T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.347-15G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.347-16T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.347-16T>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.347-22_347-19del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.347-7C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.469+18C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.469+19G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.470-10C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.470-19T>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.470-4T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.601+10G>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.601+19A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.601+7G>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.602-5T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.602-7T>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.727+11G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.727+12G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.727+8G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.727+8G>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.728-5C>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.728-8dup Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.76+12A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.76+19C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.77-11G>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.77-15G>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.77-20A>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.850-12C>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+10C>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+10C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+15C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+7A>C Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.966-17C>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.966-33A>G Single submitter
  • c.966-6G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.-76A>C Single submitter
  • c.*197C>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*380A>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*454G>A Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*469A>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*992T>G Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Ala139Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ala303= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ala536= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ala605= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ala634= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ala68= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Arg445= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asn380= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asn509= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asp198= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asp203= Single submitter
  • p.Asp406= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asp406Asn Single submitter Inborn genetic diseases
  • p.Asp599His Single submitter
  • p.Cys175= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys288= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Cys88= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln492= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln648= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu160= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu304= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu61= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly148= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly269= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly308= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly519= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly621= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gly646= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ile397= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ile466= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ile59= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ile595= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu11= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu12= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu236= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu291= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu382= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu421= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu438= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu552= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu607= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu619= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Leu622= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Lys162= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Lys473= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Phe427= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro118= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro147= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro20= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro229= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro410= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro416= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro626= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro76= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser133= Single submitter
  • p.Ser33= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser369= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser488= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser501= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser502= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser542= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser547= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser587= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Thr264= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Thr478= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Thr543= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Thr617= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Thr98= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Tyr266= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Tyr301= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Tyr340= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Tyr80= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val191= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val202= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val284= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val35= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val500= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val522= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val533= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val647= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1323+37G>A No assertion criteria PROS1-related disorder
  • p.Ter677= No assertion criteria PROS1-related disorder

Uncertain significance 304

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

  • c.1324-3T>G Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.1644+2_1644+3insTT Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.1871-14T>G Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.965+5G>A Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.-135C>T Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.-261C>T Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • c.*1103A>G Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • c.*155T>A Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • c.*550G>A Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • c.*693G>A Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ala348Val Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg316His Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg330Trp Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg40His Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Arg515His Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg90Cys Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Asn166His Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asn43Ser Multiple submitters Thromboembolism ⚠
  • p.Asn583His Multiple submitters inherited retinal dystrophy ⚠
  • p.Asp570Asn Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys113Phe Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys8Trp Multiple submitters ⚠
  • p.Gln150Arg Multiple submitters hereditary thrombophilia due to congenital protein S deficiency ⚠
  • p.Glu230Lys Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Glu576Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly151Arg Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Gly489Arg Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.His474Tyr Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ile442Val Multiple submitters PROS1-related disorder ⚠
  • p.Ile661Val Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu604Arg Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu86= Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive
  • p.Lys50Glu Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Lys50Thr Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Lys674fs Multiple submitters protein S deficiency
  • p.Pro416Leu Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Pro444Leu Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ser501Ala Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Thr518Met Multiple submitters protein S deficiency ⚠
  • p.Thr532Ala Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Thr78= Multiple submitters thrombophilia due to protein S deficiency, autosomal dominant
  • p.Thr98Ser Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Tyr484Cys Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Val37Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val606Ile Multiple submitters thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • c.1323+4A>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.1492+6T>G Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.260-7T>G Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.346+5G>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.469+4C>T Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.601+12A>G Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.728-12T>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.77-11_77-8del Single submitter
  • c.77-1346A>G Single submitter Thromboembolism
  • c.77-3C>A Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.-116C>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.-167G>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.-187G>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.-3G>T Single submitter
  • c.-43G>A Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.-48C>A Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.-60G>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*1_*2insSVAelement Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.*1014T>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*1046T>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*1082A>G Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*1139C>A Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*1186C>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*1195C>G Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*119T>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*221del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • c.*301A>G Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*385A>G Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*422G>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*686G>A Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*714T>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*737G>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*783C>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*86T>C Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*887C>A Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • c.*972C>T Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Ala13Glu Single submitter ⚠
  • p.Ala13Pro Single submitter ⚠
  • p.Ala307Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala325del Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ala403Val Single submitter Inborn genetic diseases ⚠
  • p.Ala428Ser Single submitter ⚠
  • p.Ala610Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala616Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ala654Thr Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ala68Val Single submitter Inborn genetic diseases ⚠
  • p.Arg2Lys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg2Ser Single submitter
  • p.Arg316Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Arg322Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Arg330Gln Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg40Cys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg432Gln Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg432Gly Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg445Cys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg445His Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg451Gln Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg561Gln Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg561Gly Single submitter protein S deficiency ⚠
  • p.Arg7Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg90His Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Arg90Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Asn177Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn188Ser Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Asn365Asp Single submitter ⚠
  • p.Asn408Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn643Ile Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asp163Val Single submitter Inborn genetic diseases ⚠
  • p.Asp203Tyr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asp447Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asp496His Single submitter ⚠
  • p.Asp652Glu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asp79Tyr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Asp79Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys126Tyr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys171Gly Single submitter protein S deficiency ⚠
  • p.Cys171Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys184fs Single submitter protein S deficiency
  • p.Cys226Tyr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys252Gly Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys252Tyr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys265Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys267Arg Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys449Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys568Tyr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Cys639Phe Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Cys666Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln120Glu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gln150Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln173Lys Single submitter ⚠
  • p.Gln277Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln362His Single submitter Inborn genetic diseases ⚠
  • p.Gln362Lys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gln458Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln548= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Gln601Arg Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gln648His Single submitter Inborn genetic diseases ⚠
  • p.Glu298Asp Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Glu319Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu342Gly Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Glu360Lys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Glu422Gly Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Glu437Lys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Glu469Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu47Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu60Lys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Glu61Asp Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Glu641Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly169Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly180Arg Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gly189Asp Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gly231Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly262Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gly269Arg Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Gly272Glu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gly336Ser Single submitter ⚠
  • p.Gly375Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gly381Asp Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gly448Val Single submitter inherited retinal dystrophy ⚠
  • p.Gly482Asp Single submitter ⚠
  • p.Gly482Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gly487Asp Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Gly505Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly505Val Single submitter Inborn genetic diseases ⚠
  • p.Gly621Ser Single submitter ⚠
  • p.Gly646Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly646Cys Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.His367Gln Single submitter Inborn genetic diseases ⚠
  • p.His574Tyr Single submitter Inborn genetic diseases ⚠
  • p.His658Arg Single submitter protein S deficiency ⚠
  • p.His664Tyr Single submitter ⚠
  • p.Ile117Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile158Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ile344Val Single submitter PROS1-related disorder ⚠
  • p.Ile352Ser Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ile359Thr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ile371Thr Single submitter Abnormal thrombosis ⚠
  • p.Ile395Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ile407Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ile495Val Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ile592Leu Single submitter ⚠
  • p.Ile59Met Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu12Gln Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu12Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu16Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu19Arg Single submitter ⚠
  • p.Leu19Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu207Ser Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Leu236Arg Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu275Phe Single submitter PROS1-related disorder ⚠
  • p.Leu302Trp Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Leu317Met Single submitter ⚠
  • p.Leu363Pro Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Leu438Arg Single submitter PROS1-related disorder ⚠
  • p.Leu455Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu539Phe Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu575Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu600Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu600Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu607Trp Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu619Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu622Pro Single submitter ⚠
  • p.Leu89Phe Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Leu89Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Lys208Asn Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Lys208Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys237Thr Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Lys239Met Single submitter ⚠
  • p.Lys270Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys314Asn Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Lys470Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys473Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys614Glu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Met385Val Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Met405Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe315Ser Single submitter ⚠
  • p.Phe327Tyr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Phe329Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Phe414Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Phe430Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Phe493Leu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Phe577_Arg578insSer Single submitter
  • p.Pro108Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro108Thr Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Pro20Arg Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Pro410His Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Pro486Arg Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Pro516Leu Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Pro626Ser Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Pro631Arg Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Pro631Ser Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ser240Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser240Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ser248Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser281Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser28Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser321= Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Ser396Asn Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ser44Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser501Cys Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ser538Pro Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ser542Pro Single submitter
  • p.Ser587Leu Single submitter ⚠
  • p.Ser596Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser665Leu Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Ser668Leu Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ser676Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr104Asn Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Thr543Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr617Ala Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Thr630Ile Single submitter thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Thr673Lys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Trp383Arg Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Tyr232Cys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Tyr266Cys Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Tyr297Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr497Cys Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Tyr85Asp Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Val216Ala Single submitter Inborn genetic diseases ⚠
  • p.Val216Leu Single submitter ⚠
  • p.Val21Ile Single submitter Inborn genetic diseases ⚠
  • p.Val21Leu Single submitter Inborn genetic diseases ⚠
  • p.Val309Phe Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Val337Leu Single submitter Inborn genetic diseases ⚠
  • p.Val337Met Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Val37= Single submitter thrombophilia due to protein S deficiency, autosomal dominant
  • p.Val386Met Single submitter thrombophilia due to protein S deficiency, autosomal recessive
  • p.Val522Asp Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Val522Ile Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Val522Leu Single submitter Inborn genetic diseases
  • p.Val606Phe Single submitter Inborn genetic diseases ⚠
  • p.Val615Met Single submitter thrombophilia due to protein S deficiency, autosomal recessive ⚠
  • p.Val669Ile Single submitter Inborn genetic diseases ⚠
  • c.259+63_259+66del No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant
  • c.727+4G>C No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant
  • c.76+196_76+197del No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant
  • c.76+31C>A No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant
  • c.77-70_77-68del No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant
  • c.966-65A>T No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant
  • p.Cys121Arg No assertion criteria PROS1-related disorder ⚠
  • p.Cys217Trp No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Cys226Ser No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Cys252Arg No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Gln471Arg No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Glu61Lys No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Gly222Val No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Gly272Arg No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ile559Thr No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Leu607Ser No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Leu86Ser No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Met523Thr No assertion criteria protein S deficiency ⚠
  • p.Pro179Thr No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ser396Lys No assertion criteria inherited retinal dystrophy
  • p.Ser502Gly No assertion criteria thrombophilia due to protein S deficiency, autosomal dominant ⚠
  • p.Ser502Ile No assertion criteria inherited retinal dystrophy ⚠