Sugi Variant

Sugi Variant/FLT4

FLT4 — 581 ClinVar variants

All ClinVar germline FLT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 273 flagged for review →

29 Pathogenic · 6 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 11 Conflicting · 113 Benign · 14 Benign/Likely benign · 94 Likely benign · 283 Uncertain significance

Full FLT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 273

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 7

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

Predictors lean, ClinVar uncertain 161

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 161

Predictors split 105

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

All FLT4 variants

Pathogenic 29

  • p.Gly857Arg Multiple submitters lymphatic malformation 1
  • c.1548+1G>A Single submitter congenital heart defects, multiple types, 7
  • c.1657+6T>C Single submitter congenital heart defects, multiple types, 7
  • c.985+1G>A Single submitter congenital heart defects, multiple types, 7
  • p.Arg1041Pro Single submitter lymphatic malformation 1
  • p.Arg282Ter Single submitter
  • p.Gln181Ter Single submitter
  • p.Glu570fs Single submitter congenital heart defects, multiple types, 7
  • p.Gly1111Glu Single submitter lymphatic malformation 1
  • p.Gly164fs Single submitter Inborn genetic diseases
  • p.Gly854fs Single submitter Inborn genetic diseases
  • p.Gly933Arg Single submitter
  • p.Leu939fs Single submitter FLT4-related disorder
  • p.Pro30fs Single submitter congenital heart defects, multiple types, 7
  • p.Ser1007fs Single submitter FLT4-related disorder
  • p.Trp463Ter Single submitter Fetal anomalies with a likely genetic cause
  • p.Tyr585Ter Single submitter congenital heart defects, multiple types, 7
  • p.Tyr669Ter Single submitter congenital heart defects, multiple types, 7
  • c.3332-356_3894-1373del No assertion criteria congenital heart defects, multiple types, 7
  • p.Arg82Ter No assertion criteria congenital heart defects, multiple types, 7
  • p.Asp1037Asn No assertion criteria lymphatic malformation 1
  • p.Gln1192Ter No assertion criteria congenital heart defects, multiple types, 7
  • p.Gln542fs No assertion criteria congenital heart defects, multiple types, 7
  • p.Glu1106Lys No assertion criteria lymphatic malformation 1
  • p.His1035Arg No assertion criteria lymphatic malformation 1
  • p.Leu1044Pro No assertion criteria lymphatic malformation 1
  • p.Met924Lys No assertion criteria lymphatic malformation 1
  • p.Tyr361Ter No assertion criteria congenital heart defects, multiple types, 7
  • p.Val878Met No assertion criteria lymphatic malformation 1

Pathogenic/Likely pathogenic 6

  • p.Arg1041Gln Multiple submitters lymphatic malformation 1
  • p.Arg1041Trp Multiple submitters lymphatic malformation 1
  • p.Arg318Ter Multiple submitters congenital heart defects, multiple types, 7
  • p.Gly1131Ser Multiple submitters Inborn genetic diseases
  • p.Phe1108del Multiple submitters lymphatic malformation 1
  • p.Ile1086Thr No assertion criteria FLT4-related disorder

Likely pathogenic 31

Conflicting classifications of pathogenicity 11

Benign 113

Benign/Likely benign 14

Likely benign 94

Uncertain significance 283