Sugi Variant

Sugi Variant/RIPK4

RIPK4 — 314 ClinVar variants

All ClinVar germline RIPK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 9 Conflicting · 39 Benign · 17 Benign/Likely benign · 57 Likely benign · 184 Uncertain significance

Full RIPK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 144

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.

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 82

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

Predictors split 59

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

All RIPK4 variants

Pathogenic 6

  • p.Arg260fs No assertion criteria Bartsocas-Papas syndrome 1
  • p.Glu284Lys No assertion criteria CHAND syndrome ⚠
  • p.Glu359Ter No assertion criteria Bartsocas-Papas syndrome 1
  • p.Ile121Asn No assertion criteria Bartsocas-Papas syndrome 1
  • p.Ile81Asn No assertion criteria Bartsocas-Papas syndrome 1
  • p.Ser376Ter No assertion criteria Bartsocas-Papas syndrome 1

Likely pathogenic 2

Conflicting classifications of pathogenicity 9

  • c.832+2T>C Single submitter Bartsocas-Papas syndrome 1
  • p.Ala448= Single submitter Bartsocas-Papas syndrome 1
  • p.Ala759= Single submitter Bartsocas-Papas syndrome 1
  • p.Arg89= Single submitter Bartsocas-Papas syndrome 1
  • p.His715= Single submitter Bartsocas-Papas syndrome 1
  • p.Ser379= Single submitter Bartsocas-Papas syndrome 1
  • p.Thr777Met Single submitter Inborn genetic diseases ⚠
  • p.Val415Met Single submitter Bartsocas-Papas syndrome 1 ⚠
  • p.Val84= Single submitter Bartsocas-Papas syndrome 1

Benign 39

Benign/Likely benign 17

  • c.*219T>G Multiple submitters Bartsocas-Papas syndrome 1
  • c.*275T>C Multiple submitters Bartsocas-Papas syndrome 1
  • p.Ala775= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Ala775Thr Multiple submitters Inborn genetic diseases
  • p.Arg273= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Gly373= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Gly3Ser Multiple submitters Bartsocas-Papas syndrome 1
  • p.Leu475= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Pro701Ser Multiple submitters Bartsocas-Papas syndrome 1
  • p.Ser437= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Ser628= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Thr101= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Thr539= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Thr647= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Thr784= Multiple submitters
  • p.Val39= Multiple submitters Bartsocas-Papas syndrome 1
  • p.Val690= Multiple submitters

Likely benign 57

Uncertain significance 184