Sugi Variant

Sugi Variant/TRPS1

TRPS1 — 823 ClinVar variants

All ClinVar germline TRPS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 372 flagged for review →

125 Pathogenic · 7 Pathogenic/Likely pathogenic · 48 Likely pathogenic · 33 Conflicting · 36 Benign · 23 Benign/Likely benign · 178 Likely benign · 373 Uncertain significance

Full TRPS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 372

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

Predictors agree, ClinVar conflicts 26

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

Predictors lean, ClinVar uncertain 250

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 250

Predictors split 96

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

All TRPS1 variants

Pathogenic 125

  • p.Ala932Val Multiple submitters TRPS1-related disorder
  • p.Arg257Ter Multiple submitters trichorhinophalangeal syndrome type I
  • p.Arg544Ter Multiple submitters TRPS1-related disorder
  • p.Arg624Ter Multiple submitters TRPS1-related disorder
  • p.Arg696Ter Multiple submitters Inborn genetic diseases
  • p.Arg921Gln Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Arg921Ter Multiple submitters TRPS1-related disorder
  • p.Asn393Ter Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Gln365Ter Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Gln732Ter Multiple submitters trichorhinophalangeal syndrome type I
  • p.Gln881Ter Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Lys390Ter Multiple submitters trichorhinophalangeal syndrome type I
  • p.Lys782fs Multiple submitters Trichorhinophalangeal syndrome, type III
  • c.2700+1G>A Single submitter Trichorhinophalangeal syndrome, type III
  • c.2701-1G>A Single submitter
  • p.Ala131fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ala180fs Single submitter
  • p.Ala932fs Single submitter trichorhinophalangeal syndrome type I
  • p.Arg1077Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Arg1220fs Single submitter trichorhinophalangeal syndrome type I
  • p.Arg268fs Single submitter trichorhinophalangeal syndrome type I
  • p.Arg853Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Arg944fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Arg961fs Single submitter trichorhinophalangeal syndrome type I
  • p.Arg965Cys Single submitter Trichorhinophalangeal syndrome, type III ⚠
  • p.Asn199fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Asn19fs Single submitter trichorhinophalangeal syndrome type I
  • p.Asn296fs Single submitter TRPS1-related disorder
  • p.Asn391_Ser392insTer Single submitter
  • p.Asn391fs Single submitter trichorhinophalangeal syndrome type I
  • p.Asn393fs Single submitter trichorhinophalangeal syndrome type I
  • p.Asn497fs Single submitter trichorhinophalangeal syndrome type I
  • p.Asn845fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Asn889fs Single submitter trichorhinophalangeal syndrome type I
  • p.Asn967fs Single submitter trichorhinophalangeal syndrome type I
  • p.Asp638fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Asp766_Ser767insTer Single submitter trichorhinophalangeal syndrome type I
  • p.Cys704fs Single submitter trichorhinophalangeal syndrome type I
  • p.Cys909fs Single submitter Inborn genetic diseases
  • p.Cys909Tyr Single submitter Trichorhinophalangeal syndrome type 1 and 3
  • p.Gln1118Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln305Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gln340fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gln438Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln564Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln565fs Single submitter trichorhinophalangeal syndrome type I
  • p.Gln565Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln628Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln718Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gln730Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gln732fs Single submitter trichorhinophalangeal syndrome type I
  • p.Gln834Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln836Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln881fs Single submitter
  • p.Gln956Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln975Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln987Ter Single submitter
  • p.Glu165fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Glu504fs Single submitter trichorhinophalangeal syndrome type I
  • p.Glu593Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Glu994fs Single submitter trichorhinophalangeal syndrome type I
  • p.Gly1187fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gly206fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gly473fs Single submitter trichorhinophalangeal syndrome type I
  • p.Gly550fs Single submitter trichorhinophalangeal syndrome type I
  • p.Gly666fs Single submitter trichorhinophalangeal syndrome type I
  • p.His1090fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.His576fs Single submitter Inborn genetic diseases
  • p.His590Alafs Single submitter
  • p.His697fs Single submitter trichorhinophalangeal syndrome type I
  • p.Leu1107fs Single submitter
  • p.Leu1177fs Single submitter Inborn genetic diseases
  • p.Leu363Ter Single submitter Inborn genetic diseases
  • p.Leu826fs Single submitter Inborn genetic diseases
  • p.Leu840fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Leu976fs Single submitter trichorhinophalangeal syndrome type I
  • p.Lys1083fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Lys168fs Single submitter
  • p.Lys463Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Lys470fs Single submitter trichorhinophalangeal syndrome type I
  • p.Lys683fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Lys792fs Single submitter trichorhinophalangeal syndrome type I
  • p.Lys792Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Pro1145fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Pro551fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser1004fs Single submitter trichorhinophalangeal syndrome type I
  • p.Ser1054fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser1066Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Ser1069fs Single submitter Inborn genetic diseases
  • p.Ser388Ter Single submitter
  • p.Ser461Ter Single submitter trichorhinophalangeal syndrome
  • p.Ser477fs Single submitter trichorhinophalangeal syndrome type I
  • p.Ser502fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser503Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Ser633Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Ser648fs Single submitter trichorhinophalangeal syndrome type I
  • p.Ser797fs Single submitter trichorhinophalangeal syndrome type I
  • p.Ser818Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Ser886Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser941Ter Single submitter
  • p.Thr595fs Single submitter Inborn genetic diseases
  • p.Thr914fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Trp410Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Trp794Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Trp807Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Trp920fs Single submitter trichorhinophalangeal syndrome type I
  • p.Tyr1154fs Single submitter trichorhinophalangeal syndrome type I
  • p.Tyr1154Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Tyr319fs Single submitter trichorhinophalangeal syndrome type I
  • p.Tyr468fs Single submitter Trichorhinophalangeal syndrome, type III
  • p.Tyr856Ter Single submitter Trichorhinophalangeal syndrome, type III
  • p.Tyr936Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Val1144fs Single submitter trichorhinophalangeal syndrome type I
  • p.Val727fs Single submitter trichorhinophalangeal syndrome type I
  • p.Val929Gly Single submitter Trichorhinophalangeal syndrome, type III
  • p.Val988fs Single submitter trichorhinophalangeal syndrome type I
  • p.Cys351Ter No assertion criteria trichorhinophalangeal syndrome type I
  • p.Gln233Ter No assertion criteria trichorhinophalangeal syndrome type I
  • p.Gln293Ter No assertion criteria trichorhinophalangeal syndrome type I
  • p.Ser458Ter No assertion criteria trichorhinophalangeal syndrome type I
  • p.Ser816fs No assertion criteria trichorhinophalangeal syndrome type I
  • p.Thr828fs No assertion criteria trichorhinophalangeal syndrome type I
  • p.Thr914Pro No assertion criteria Trichorhinophalangeal syndrome, type III
  • p.Tyr1105Ter No assertion criteria trichorhinophalangeal syndrome type I
  • p.Val1134fs No assertion criteria trichorhinophalangeal syndrome type I

Pathogenic/Likely pathogenic 7

  • c.2096+2T>G Multiple submitters TRPS1-related disorder
  • c.2097-2A>C Multiple submitters trichorhinophalangeal syndrome type I
  • p.Ala932Thr Multiple submitters TRPS1-related disorder
  • p.Arg965His Multiple submitters Trichorhinophalangeal syndrome, type III ⚠
  • p.Arg981fs Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Gln322Ter Multiple submitters TRPS1-related disorder
  • p.Leu919Val Multiple submitters trichorhinophalangeal syndrome type I ⚠

Likely pathogenic 48

  • p.Cys933Tyr Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Leu919Pro Multiple submitters trichorhinophalangeal syndrome type I
  • c.1919_2096+2929del Single submitter Trichorhinophalangeal syndrome, type III
  • c.2096+1G>A Single submitter trichorhinophalangeal syndrome type I
  • c.2700+1G>C Single submitter trichorhinophalangeal syndrome type I
  • c.2700+2T>G Single submitter trichorhinophalangeal syndrome type I
  • c.2823+2T>G Single submitter
  • c.967-1G>T Single submitter trichorhinophalangeal syndrome type I
  • c.967-2A>G Single submitter TRPS1-related disorder
  • p.Ala885fs Single submitter trichorhinophalangeal syndrome type I
  • p.Arg921Pro Single submitter Trichorhinophalangeal syndrome, type III
  • p.Asn1173fs Single submitter TRPS1-related disorder
  • p.Asn952fs Single submitter trichorhinophalangeal syndrome type I
  • p.Cys1233Tyr Single submitter trichorhinophalangeal syndrome type I
  • p.Cys348Phe Single submitter trichorhinophalangeal syndrome type I
  • p.Cys909Ser Single submitter
  • p.Gln1262Ter Single submitter
  • p.Gln184Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Gln285fs Single submitter trichorhinophalangeal syndrome type I
  • p.Gln411Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Glu272Ter Single submitter TRPS1-related disorder
  • p.Gly1021fs Single submitter trichorhinophalangeal syndrome type I
  • p.Gly1060Ter Single submitter TRPS1-related disorder
  • p.Gly982fs Single submitter
  • p.His1246Gln Single submitter trichorhinophalangeal syndrome type I
  • p.His1246Leu Single submitter trichorhinophalangeal syndrome type I
  • p.Ile855fs Single submitter trichorhinophalangeal syndrome type I
  • p.Leu263fs Single submitter trichorhinophalangeal syndrome type I
  • p.Leu879fs Single submitter trichorhinophalangeal syndrome type I
  • p.Lys258fs Single submitter TRPS1-related disorder
  • p.Lys394Ter Single submitter trichorhinophalangeal syndrome type I
  • p.Lys513fs Single submitter TRPS1-related disorder
  • p.Lys521Ter Single submitter TRPS1-related disorder
  • p.Lys922Glu Single submitter trichorhinophalangeal syndrome type I
  • p.Lys938Gln Single submitter trichorhinophalangeal syndrome type I
  • p.Lys964Glu Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser404fs Single submitter TRPS1-related disorder
  • p.Ser489fs Single submitter trichorhinophalangeal syndrome type I
  • p.Ser606Phe Single submitter trichorhinophalangeal syndrome type I ⚠
  • p.Ser799fs Single submitter trichorhinophalangeal syndrome type I
  • p.Ser983fs Single submitter TRPS1-related disorder
  • p.Thr318fs Single submitter TRPS1-related disorder
  • p.Trp1127fs Single submitter
  • p.Tyr1084Ter Single submitter TRPS1-related disorder
  • p.Tyr245Ter Single submitter TRPS1-related disorder
  • p.Val907fs Single submitter trichorhinophalangeal syndrome
  • p.Asn1092fs No assertion criteria TRPS1-related disorder
  • p.Gln32Ter No assertion criteria trichorhinophalangeal syndrome type I

Conflicting classifications of pathogenicity 33

Benign 36

Benign/Likely benign 23

  • c.2823+15C>A Multiple submitters trichorhinophalangeal syndrome type I
  • c.967-14C>T Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Arg814Leu Multiple submitters Trichorhinophalangeal syndrome, type III ⚠
  • p.Asn1161Ser Multiple submitters trichorhinophalangeal syndrome type I
  • p.Asn222Ser Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Asn761Ser Multiple submitters trichorhinophalangeal syndrome type I
  • p.Asp486Asn Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Glu175Lys Multiple submitters trichorhinophalangeal syndrome type I
  • p.Glu272= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Glu529= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Glu57Gly Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Glu741= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.His1005Gln Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Leu399Phe Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Leu433= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Met152Thr Multiple submitters trichorhinophalangeal syndrome type I
  • p.Pro829Ala Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Ser515Leu Multiple submitters Inborn genetic diseases
  • p.Ser623= Multiple submitters trichorhinophalangeal syndrome type I
  • p.Ser655= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Ser886= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Thr820= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Tyr596= Multiple submitters Trichorhinophalangeal syndrome, type III

Likely benign 178

  • c.38-15C>T Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Ala131Ser Multiple submitters Inborn genetic diseases
  • p.Ala377Val Multiple submitters trichorhinophalangeal syndrome type I
  • p.Ala385Gly Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Ala715= Multiple submitters trichorhinophalangeal syndrome type I
  • p.Arg696Gln Multiple submitters trichorhinophalangeal syndrome type I ⚠
  • p.Asn1191= Multiple submitters trichorhinophalangeal syndrome type I
  • p.Asn391His Multiple submitters Inborn genetic diseases
  • p.Asn845Ser Multiple submitters trichorhinophalangeal syndrome type I
  • p.Asp166Asn Multiple submitters trichorhinophalangeal syndrome type I
  • p.Gln1223Glu Multiple submitters trichorhinophalangeal syndrome type I
  • p.Glu30Lys Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Glu35= Multiple submitters trichorhinophalangeal syndrome type I
  • p.Glu529Lys Multiple submitters Inborn genetic diseases
  • p.Gly872= Multiple submitters trichorhinophalangeal syndrome type I
  • p.His73Tyr Multiple submitters Inborn genetic diseases
  • p.Leu824= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Lys172Arg Multiple submitters Inborn genetic diseases
  • p.Pro829= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Ser1075Cys Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Ser492Phe Multiple submitters trichorhinophalangeal syndrome type I
  • p.Ser514Ile Multiple submitters trichorhinophalangeal syndrome type I
  • p.Ser667= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Ser886Leu Multiple submitters Inborn genetic diseases
  • p.Thr119Ser Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Thr636Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1017= Multiple submitters Trichorhinophalangeal syndrome, type III
  • p.Tyr245= Multiple submitters trichorhinophalangeal syndrome type I
  • p.Val1068Ile Multiple submitters trichorhinophalangeal syndrome type I
  • c.2096+10G>T Single submitter Trichorhinophalangeal syndrome, type III
  • c.2096+11G>C Single submitter Trichorhinophalangeal syndrome, type III
  • c.2096+12G>C Single submitter Trichorhinophalangeal syndrome, type III
  • c.2097-12C>T Single submitter trichorhinophalangeal syndrome type I
  • c.2097-14T>C Single submitter trichorhinophalangeal syndrome type I
  • c.2097-17G>C Single submitter trichorhinophalangeal syndrome type I
  • c.2823+15C>T Single submitter Trichorhinophalangeal syndrome, type III
  • c.2823+19del Single submitter Trichorhinophalangeal syndrome, type III
  • c.2824-18T>C Single submitter Trichorhinophalangeal syndrome, type III
  • c.2824-60_2824-42del Single submitter
  • c.2824-6C>T Single submitter trichorhinophalangeal syndrome type I
  • c.967-10del Single submitter trichorhinophalangeal syndrome type I
  • c.967-4C>G Single submitter Trichorhinophalangeal syndrome, type III
  • c.-122+683G>C Single submitter
  • c.*4747_*4753T[7]GTTTTTTT[1] Single submitter
  • p.Ala1088= Single submitter trichorhinophalangeal syndrome type I
  • p.Ala1180= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ala1193= Single submitter trichorhinophalangeal syndrome type I
  • p.Ala1284= Single submitter trichorhinophalangeal syndrome type I
  • p.Ala528= Single submitter trichorhinophalangeal syndrome type I
  • p.Ala661Val Single submitter Inborn genetic diseases
  • p.Ala822Gly Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ala878= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ala885Val Single submitter Inborn genetic diseases
  • p.Ala932= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ala973= Single submitter trichorhinophalangeal syndrome type I
  • p.Arg1277= Single submitter trichorhinophalangeal syndrome type I
  • p.Arg347= Single submitter trichorhinophalangeal syndrome type I
  • p.Arg814= Single submitter trichorhinophalangeal syndrome type I
  • p.Arg841= Single submitter trichorhinophalangeal syndrome type I
  • p.Arg853= Single submitter trichorhinophalangeal syndrome type I
  • p.Arg902= Single submitter trichorhinophalangeal syndrome type I
  • p.Arg960= Single submitter
  • p.Arg965= Single submitter trichorhinophalangeal syndrome type I
  • p.Asn24= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Asn282= Single submitter trichorhinophalangeal syndrome type I
  • p.Asn358= Single submitter trichorhinophalangeal syndrome type I
  • p.Asn393= Single submitter trichorhinophalangeal syndrome type I
  • p.Asn497= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Asn58= Single submitter
  • p.Asn931= Single submitter trichorhinophalangeal syndrome type I
  • p.Asp1252= Single submitter trichorhinophalangeal syndrome type I
  • p.Asp159Tyr Single submitter
  • p.Asp338= Single submitter trichorhinophalangeal syndrome type I
  • p.Asp656Tyr Single submitter trichorhinophalangeal syndrome type I
  • p.Asp842Asn Single submitter trichorhinophalangeal syndrome type I
  • p.Cys154= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gln1223= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gln142= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gln201= Single submitter trichorhinophalangeal syndrome type I
  • p.Gln411= Single submitter trichorhinophalangeal syndrome type I
  • p.Gln631Arg Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gln972= Single submitter trichorhinophalangeal syndrome type I
  • p.Glu1003Gly Single submitter trichorhinophalangeal syndrome type I
  • p.Glu1207= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Glu136= Single submitter trichorhinophalangeal syndrome type I
  • p.Glu165= Single submitter trichorhinophalangeal syndrome type I
  • p.Glu175= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Glu364= Single submitter trichorhinophalangeal syndrome type I
  • p.Glu888= Single submitter trichorhinophalangeal syndrome type I
  • p.Gly1063Arg Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gly1187= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gly1192Ser Single submitter Trichorhinophalangeal syndrome, type III ⚠
  • p.Gly262= Single submitter trichorhinophalangeal syndrome type I
  • p.Gly331= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gly405= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gly478= Single submitter trichorhinophalangeal syndrome type I
  • p.Gly550= Single submitter trichorhinophalangeal syndrome type I
  • p.Gly770= Single submitter trichorhinophalangeal syndrome type I
  • p.Gly788= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gly926= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Gly927= Single submitter trichorhinophalangeal syndrome type I
  • p.Gly98= Single submitter trichorhinophalangeal syndrome type I
  • p.His1143= Single submitter trichorhinophalangeal syndrome type I
  • p.His115Tyr Single submitter Trichorhinophalangeal syndrome, type III
  • p.His371= Single submitter trichorhinophalangeal syndrome type I
  • p.His472= Single submitter trichorhinophalangeal syndrome type I
  • p.Ile1050Phe Single submitter Trichorhinophalangeal syndrome, type III ⚠
  • p.Ile594= Single submitter trichorhinophalangeal syndrome type I
  • p.Leu1023= Single submitter trichorhinophalangeal syndrome type I
  • p.Leu1141= Single submitter trichorhinophalangeal syndrome type I
  • p.Leu1147= Single submitter trichorhinophalangeal syndrome type I
  • p.Leu1162= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Leu1245= Single submitter
  • p.Leu138= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Leu190= Single submitter trichorhinophalangeal syndrome type I
  • p.Leu218= Single submitter trichorhinophalangeal syndrome type I
  • p.Leu304= Single submitter
  • p.Leu379= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Leu464Val Single submitter
  • p.Leu465= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Leu615= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Leu643= Single submitter trichorhinophalangeal syndrome type I
  • p.Leu664= Single submitter trichorhinophalangeal syndrome type I
  • p.Leu813= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Leu879= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Lys413= Single submitter trichorhinophalangeal syndrome type I
  • p.Lys501Arg Single submitter
  • p.Lys547Arg Single submitter trichorhinophalangeal syndrome type I
  • p.Lys658= Single submitter trichorhinophalangeal syndrome type I
  • p.Lys838= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Lys950Arg Single submitter Trichorhinophalangeal syndrome, type III ⚠
  • p.Phe300= Single submitter trichorhinophalangeal syndrome type I
  • p.Pro1111= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Pro114= Single submitter trichorhinophalangeal syndrome type I
  • p.Pro1209= Single submitter trichorhinophalangeal syndrome type I
  • p.Pro156= Single submitter trichorhinophalangeal syndrome type I
  • p.Pro225= Single submitter trichorhinophalangeal syndrome type I
  • p.Pro597= Single submitter trichorhinophalangeal syndrome type I
  • p.Pro817= Single submitter trichorhinophalangeal syndrome type I
  • p.Ser1067= Single submitter trichorhinophalangeal syndrome type I
  • p.Ser1133= Single submitter trichorhinophalangeal syndrome type I
  • p.Ser1142= Single submitter
  • p.Ser1171= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser1253Gly Single submitter
  • p.Ser127= Single submitter trichorhinophalangeal syndrome type I
  • p.Ser157= Single submitter trichorhinophalangeal syndrome type I
  • p.Ser489= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser51= Single submitter trichorhinophalangeal syndrome type I
  • p.Ser515= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser524= Single submitter trichorhinophalangeal syndrome type I
  • p.Ser548= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser667Leu Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser676Arg Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser747Tyr Single submitter Trichorhinophalangeal syndrome, type III
  • p.Ser90= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Thr1159= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Thr1198= Single submitter trichorhinophalangeal syndrome type I
  • p.Thr1266= Single submitter trichorhinophalangeal syndrome type I
  • p.Thr336= Single submitter trichorhinophalangeal syndrome type I
  • p.Thr361= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Thr422= Single submitter trichorhinophalangeal syndrome type I
  • p.Thr59= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Thr595Ile Single submitter trichorhinophalangeal syndrome type I
  • p.Thr59Met Single submitter trichorhinophalangeal syndrome type I
  • p.Thr636= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Thr682= Single submitter trichorhinophalangeal syndrome type I
  • p.Thr682Ala Single submitter trichorhinophalangeal syndrome type I
  • p.Thr748= Single submitter trichorhinophalangeal syndrome type I
  • p.Thr862= Single submitter trichorhinophalangeal syndrome type I
  • p.Tyr1130= Single submitter trichorhinophalangeal syndrome type I
  • p.Val1035= Single submitter trichorhinophalangeal syndrome type I
  • p.Val1204= Single submitter trichorhinophalangeal syndrome type I
  • p.Val1212= Single submitter trichorhinophalangeal syndrome type I
  • p.Val195Met Single submitter trichorhinophalangeal syndrome type I
  • p.Val625= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Val649= Single submitter Trichorhinophalangeal syndrome, type III
  • p.Val830= Single submitter
  • p.Tyr468= No assertion criteria TRPS1-related disorder

Uncertain significance 373

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