TIE1 — 177 ClinVar variants

All ClinVar germline TIE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

1 Pathogenic · 4 Benign · 8 Likely benign · 164 Uncertain significance

Full TIE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

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 1

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

TIE1 p.Arg481Cys Pathogenic No assertion criteria
lymphatic malformation 11

Predictors lean, ClinVar uncertain 110

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 45

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

All TIE1 variants

Pathogenic 1

p.Arg481Cys No assertion criteria lymphatic malformation 11 ⚠

Benign 4

p.Arg213= Multiple submitters
p.His238= Multiple submitters
p.Ser768= Multiple submitters
p.Asn161= Single submitter

Likely benign 8

c.1493-7C>T Single submitter
p.Ala419Val Single submitter
p.Ala687Thr Single submitter
p.Gly221= Single submitter
p.Leu863= Single submitter
p.Tyr677= Single submitter
p.Tyr714= Single submitter
p.Val833Met No assertion criteria TIE1-related disorder

Uncertain significance 164

p.Asp578Asn Multiple submitters ⚠
c.3346-1G>C Single submitter
p.Ala1129Pro Single submitter ⚠
p.Ala206Thr Single submitter
p.Ala305Asp Single submitter ⚠
p.Ala56Ser Single submitter ⚠
p.Ala605Val Single submitter ⚠
p.Ala652Thr Single submitter ⚠
p.Ala710Thr Single submitter ⚠
p.Ala753Thr Single submitter ⚠
p.Ala779Thr Single submitter ⚠
p.Ala876Gly Single submitter ⚠
p.Ala885Val Single submitter ⚠
p.Arg112Gln Single submitter ⚠
p.Arg113Cys Single submitter ⚠
p.Arg177Gln Single submitter ⚠
p.Arg177Trp Single submitter ⚠
p.Arg209Gln Single submitter
p.Arg209Trp Single submitter ⚠
p.Arg213Gln Single submitter ⚠
p.Arg213Trp Single submitter ⚠
p.Arg219Cys Single submitter ⚠
p.Arg219His Single submitter ⚠
p.Arg254Cys Single submitter ⚠
p.Arg279Gln Single submitter ⚠
p.Arg279Trp Single submitter ⚠
p.Arg316Gln Single submitter ⚠
p.Arg369Gln Single submitter ⚠
p.Arg369Trp Single submitter ⚠
p.Arg382Gln Single submitter ⚠
p.Arg388Cys Single submitter ⚠
p.Arg38Leu Single submitter ⚠
p.Arg437Gln Single submitter ⚠
p.Arg437Trp Single submitter ⚠
p.Arg454Trp Single submitter ⚠
p.Arg485Gln Single submitter ⚠
p.Arg485Trp Single submitter ⚠
p.Arg4Gln Single submitter ⚠
p.Arg518Cys Single submitter ⚠
p.Arg518His Single submitter ⚠
p.Arg561Gln Single submitter ⚠
p.Arg563Gln Single submitter ⚠
p.Arg593Gln Single submitter ⚠
p.Arg593Trp Single submitter ⚠
p.Arg648Gln Single submitter ⚠
p.Arg706Cys Single submitter ⚠
p.Arg717Leu Single submitter ⚠
p.Arg719Trp Single submitter ⚠
p.Arg751Trp Single submitter ⚠
p.Arg795Cys Single submitter ⚠
p.Arg795His Single submitter ⚠
p.Arg795Leu Single submitter ⚠
p.Arg820Gln Single submitter ⚠
p.Arg821Gln Single submitter ⚠
p.Arg821Pro Single submitter
p.Arg855Gln Single submitter ⚠
p.Arg910Gln Single submitter ⚠
p.Arg910Ter Single submitter lymphatic malformation 11
p.Arg933Gln Single submitter ⚠
p.Arg943Gln Single submitter ⚠
p.Asn161Lys Single submitter ⚠
p.Asn363Asp Single submitter ⚠
p.Asn709Ser Single submitter ⚠
p.Asp1080Asn Single submitter ⚠
p.Asp155His Single submitter ⚠
p.Asp175Val Single submitter ⚠
p.Asp66Asn Single submitter ⚠
p.Asp67Tyr Single submitter ⚠
p.Asp843Asn Single submitter ⚠
p.Asp98Val Single submitter ⚠
p.Cys105Arg Single submitter ⚠
p.Cys105Tyr Single submitter ⚠
p.Cys43Trp Single submitter ⚠
p.Gln968Pro Single submitter ⚠
p.Glu243Lys Single submitter ⚠
p.Glu412Lys Single submitter ⚠
p.Glu659Lys Single submitter ⚠
p.Glu668Asp Single submitter ⚠
p.Gly108Ser Single submitter ⚠
p.Gly191Ser Single submitter ⚠
p.Gly242Ser Single submitter ⚠
p.Gly252Ala Single submitter ⚠
p.Gly392Ser Single submitter ⚠
p.Gly433Arg Single submitter ⚠
p.Gly433Asp Single submitter ⚠
p.Gly49Arg Single submitter ⚠
p.Gly514Arg Single submitter ⚠
p.Gly558Ser Single submitter ⚠
p.Gly573Arg Single submitter ⚠
p.Gly686Val Single submitter ⚠
p.Gly75Arg Single submitter ⚠
p.Gly804Asp Single submitter
p.Gly84Cys Single submitter ⚠
p.Gly84Val Single submitter ⚠
p.Gly92Arg Single submitter ⚠
p.Gly92Ser Single submitter ⚠
p.Gly946Trp Single submitter ⚠
p.His615Arg Single submitter ⚠
p.His86Leu Single submitter ⚠
p.Ile117Thr Single submitter ⚠
p.Ile370Asn Single submitter ⚠
p.Ile69Met Single submitter ⚠
p.Ile704Val Single submitter ⚠
p.Ile786Thr Single submitter ⚠
p.Ile854Ser Single submitter ⚠
p.Ile858Thr Single submitter ⚠
p.Leu168Val Single submitter ⚠
p.Leu360Met Single submitter ⚠
p.Leu395Phe Single submitter ⚠
p.Leu482Pro Single submitter ⚠
p.Leu537Pro Single submitter ⚠
p.Leu607Val Single submitter ⚠
p.Leu622Pro Single submitter ⚠
p.Leu670Val Single submitter ⚠
p.Leu777Pro Single submitter ⚠
p.Lys1010Thr Single submitter ⚠
p.Lys152Arg Single submitter ⚠
p.Lys859Asn Single submitter ⚠
p.Met1012Thr Single submitter ⚠
p.Met718Thr Single submitter ⚠
p.Met857Val Single submitter ⚠
p.Phe93Cys Single submitter ⚠
p.Pro308Ser Single submitter ⚠
p.Pro368Thr Single submitter ⚠
p.Pro36Ser Single submitter ⚠
p.Pro467Leu Single submitter ⚠
p.Pro640Ser Single submitter ⚠
p.Pro667Leu Single submitter ⚠
p.Pro667Ser Single submitter ⚠
p.Pro746Ser Single submitter ⚠
p.Pro7Ala Single submitter ⚠
p.Pro828Leu Single submitter ⚠
p.Pro921Arg Single submitter
p.Pro921Ser Single submitter
p.Ser1121Leu Single submitter ⚠
p.Ser122Ile Single submitter ⚠
p.Ser145Cys Single submitter ⚠
p.Ser189Leu Single submitter ⚠
p.Ser194Gly Single submitter ⚠
p.Ser421Cys Single submitter ⚠
p.Ser522Gly Single submitter ⚠
p.Thr114Ala Single submitter ⚠
p.Thr253Ser Single submitter ⚠
p.Thr26Ala Single submitter ⚠
p.Thr366Met Single submitter ⚠
p.Thr608Met Single submitter ⚠
p.Thr611Met Single submitter ⚠
p.Thr663Ile Single submitter ⚠
p.Thr72Asn Single submitter ⚠
p.Trp532Leu Single submitter ⚠
p.Trp585Gly Single submitter ⚠
p.Tyr166Cys Single submitter ⚠
p.Val100Leu Single submitter ⚠
p.Val132Phe Single submitter ⚠
p.Val245Ile Single submitter ⚠
p.Val381Met Single submitter ⚠
p.Val441Ile Single submitter ⚠
p.Val443Met Single submitter ⚠
p.Val448Met Single submitter ⚠
p.Val504Met Single submitter ⚠
p.Val637Gly Single submitter ⚠
p.Val637Met Single submitter ⚠
p.Val70Met Single submitter ⚠
c.3039delG No assertion criteria TIE1-related disorder