Sugi Variant

Sugi Variant/WIPF1

WIPF1 — 362 ClinVar variants

All ClinVar germline WIPF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

6 Pathogenic · 6 Conflicting · 14 Benign · 7 Benign/Likely benign · 149 Likely benign · 180 Uncertain significance

Full WIPF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 5

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

Predictors lean, ClinVar uncertain 120

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

Predictors split 40

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

All WIPF1 variants

Pathogenic 6

  • p.Arg125Ter Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly95fs Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser142fs Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser196Ter Single submitter Wiskott-Aldrich syndrome 2
  • p.Gln237Ter No assertion criteria Wiskott-Aldrich syndrome 2
  • p.Ser434Ter No assertion criteria Wiskott-Aldrich syndrome 2

Conflicting classifications of pathogenicity 6

Benign 14

Benign/Likely benign 7

  • p.Asn26= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Asn388= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Asn482= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro198Leu Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro319= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Ser409= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Thr471= Multiple submitters Wiskott-Aldrich syndrome 2

Likely benign 149

  • c.1343-14G>C Multiple submitters Wiskott-Aldrich syndrome 2
  • c.182-14C>T Multiple submitters Wiskott-Aldrich syndrome 2
  • c.182-16G>A Multiple submitters Wiskott-Aldrich syndrome 2
  • c.182-20G>A Multiple submitters Wiskott-Aldrich syndrome 2
  • c.51+14C>A Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Ala56= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Arg364= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Asp329= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Asp53= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Gly69= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Gly71Asp Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Gly78= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Gly81= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Gly86= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro10= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro12= Multiple submitters
  • p.Pro131= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro215= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro219= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro239= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro256= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro298= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro309= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro318= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Pro502= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Ser197Asn Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Ser304= Multiple submitters Wiskott-Aldrich syndrome 2
  • p.Thr255= Multiple submitters Wiskott-Aldrich syndrome 2
  • c.1129+10G>A Single submitter Wiskott-Aldrich syndrome 2
  • c.1129+13G>A Single submitter Wiskott-Aldrich syndrome 2
  • c.1129+16G>C Single submitter Wiskott-Aldrich syndrome 2
  • c.1129+7C>G Single submitter Wiskott-Aldrich syndrome 2
  • c.1129+8A>G Single submitter Wiskott-Aldrich syndrome 2
  • c.1129+9A>G Single submitter Wiskott-Aldrich syndrome 2
  • c.1130-10T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.1130-18T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.1130-4C>T Single submitter Wiskott-Aldrich syndrome 2
  • c.1342+11G>C Single submitter Wiskott-Aldrich syndrome 2
  • c.1342+18C>A Single submitter Wiskott-Aldrich syndrome 2
  • c.1342+8G>C Single submitter Wiskott-Aldrich syndrome 2
  • c.1343-14G>A Single submitter Wiskott-Aldrich syndrome 2
  • c.1343-20C>T Single submitter Wiskott-Aldrich syndrome 2
  • c.1343-5C>T Single submitter Wiskott-Aldrich syndrome 2
  • c.1343-7T>C Single submitter
  • c.1456+9T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.1457-13T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.1457-14G>A Single submitter Wiskott-Aldrich syndrome 2
  • c.181+18A>G Single submitter Wiskott-Aldrich syndrome 2
  • c.181+7A>T Single submitter Wiskott-Aldrich syndrome 2
  • c.181+9A>G Single submitter Wiskott-Aldrich syndrome 2
  • c.182-10T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.182-8T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.358+13T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.358+19T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.359-19T>C Single submitter Wiskott-Aldrich syndrome 2
  • c.51+19_51+22del Single submitter Wiskott-Aldrich syndrome 2
  • c.51+7G>T Single submitter Wiskott-Aldrich syndrome 2
  • c.52-15A>G Single submitter Wiskott-Aldrich syndrome 2
  • p.Ala281= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ala8= Single submitter Inborn genetic diseases
  • p.Arg173= Single submitter Wiskott-Aldrich syndrome 2
  • p.Arg226= Single submitter Wiskott-Aldrich syndrome 2
  • p.Arg337= Single submitter Wiskott-Aldrich syndrome 2
  • p.Arg370= Single submitter Wiskott-Aldrich syndrome 2
  • p.Arg422= Single submitter Wiskott-Aldrich syndrome 2
  • p.Arg438= Single submitter Wiskott-Aldrich syndrome 2
  • p.Arg490= Single submitter Wiskott-Aldrich syndrome 2
  • p.Asn328= Single submitter Wiskott-Aldrich syndrome 2
  • p.Asp181= Single submitter Wiskott-Aldrich syndrome 2
  • p.Asp421= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly122= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly146= Single submitter
  • p.Gly148= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly202= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly209= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly374= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly377= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly406= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly69Ser Single submitter Inborn genetic diseases
  • p.Gly77= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly79= Single submitter
  • p.Gly93= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly95= Single submitter Wiskott-Aldrich syndrome 2
  • p.Gly96= Single submitter
  • p.Leu17= Single submitter Wiskott-Aldrich syndrome 2
  • p.Leu25= Single submitter Wiskott-Aldrich syndrome 2
  • p.Leu321= Single submitter Wiskott-Aldrich syndrome 2
  • p.Leu334= Single submitter Wiskott-Aldrich syndrome 2
  • p.Leu339= Single submitter Wiskott-Aldrich syndrome 2
  • p.Leu341= Single submitter Wiskott-Aldrich syndrome 2
  • p.Leu357Ile Single submitter Wiskott-Aldrich syndrome 2
  • p.Leu59= Single submitter Wiskott-Aldrich syndrome 2
  • p.Lys22= Single submitter Wiskott-Aldrich syndrome 2
  • p.Lys27= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro109= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro11= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro11Leu Single submitter Wiskott-Aldrich syndrome 2 ⚠
  • p.Pro13= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro143= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro144= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro161= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro164= Single submitter
  • p.Pro170= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro193= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro205= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro207= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro213= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro221= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro245= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro253= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro254= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro265= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro266= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro270= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro283= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro287dup Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro292= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro312= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro316= Single submitter
  • p.Pro332= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro360= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro365= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro372= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro410= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro414Ser Single submitter
  • p.Pro433= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro445= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro458= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro499= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro500= Single submitter Wiskott-Aldrich syndrome 2
  • p.Pro9= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser257= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser301= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser303= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser325= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser326= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser326Arg Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser326Gly Single submitter
  • p.Ser350= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser390= Single submitter Wiskott-Aldrich syndrome 2
  • p.Ser412= Single submitter Wiskott-Aldrich syndrome 2
  • p.Thr297= Single submitter Wiskott-Aldrich syndrome 2
  • p.Thr398= Single submitter Wiskott-Aldrich syndrome 2
  • p.Thr49= Single submitter Wiskott-Aldrich syndrome 2
  • p.Tyr468= Single submitter
  • p.Val152= Single submitter Wiskott-Aldrich syndrome 2
  • p.Val206= Single submitter Wiskott-Aldrich syndrome 2
  • p.Val3= Single submitter Wiskott-Aldrich syndrome 2
  • p.Val50= Single submitter Wiskott-Aldrich syndrome 2

Uncertain significance 180