Sugi Variant

Sugi Variant/CARD14

CARD14 — 1316 ClinVar variants

All ClinVar germline CARD14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 623 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 66 Conflicting · 94 Benign · 42 Benign/Likely benign · 414 Likely benign · 686 Uncertain significance

Full CARD14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 623

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 6

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

Predictors agree, ClinVar conflicts 21

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

Predictors lean, ClinVar uncertain 324

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 324

Predictors split 272

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 272

All CARD14 variants

Pathogenic 11

Pathogenic/Likely pathogenic 1

  • p.Leu156Pro Multiple submitters pityriasis rubra pilaris

Likely pathogenic 2

Conflicting classifications of pathogenicity 66

Benign 94

Benign/Likely benign 42

  • c.1594+8C>T Multiple submitters psoriasis 2
  • c.1852-8G>A Multiple submitters autoinflammatory syndrome
  • c.1979-15G>A Multiple submitters pityriasis rubra pilaris
  • c.2569+4T>C Multiple submitters autoinflammatory syndrome
  • c.2691+15G>A Multiple submitters pityriasis rubra pilaris
  • c.2807+10C>T Multiple submitters autoinflammatory syndrome
  • c.676-15C>T Multiple submitters pityriasis rubra pilaris
  • p.Ala312= Multiple submitters pityriasis rubra pilaris
  • p.Ala639= Multiple submitters autoinflammatory syndrome
  • p.Ala779Thr Multiple submitters Inborn genetic diseases
  • p.Ala953= Multiple submitters autoinflammatory syndrome
  • p.Arg311= Multiple submitters autoinflammatory syndrome
  • p.Arg547Ser Multiple submitters pityriasis rubra pilaris
  • p.Arg597Trp Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg62Gln Multiple submitters autoinflammatory syndrome
  • p.Arg682Trp Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg883His Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg941Gln Multiple submitters autoinflammatory syndrome
  • p.Arg962Gln Multiple submitters autoinflammatory syndrome
  • p.Asn237His Multiple submitters autoinflammatory syndrome
  • p.Asp176His Multiple submitters pityriasis rubra pilaris ⚠
  • p.Asp973Glu Multiple submitters autoinflammatory syndrome
  • p.Cys756Tyr Multiple submitters autoinflammatory syndrome
  • p.Gln535Ter Multiple submitters pityriasis rubra pilaris
  • p.Glu126= Multiple submitters autoinflammatory syndrome
  • p.Glu320= Multiple submitters autoinflammatory syndrome
  • p.Glu422Lys Multiple submitters autoinflammatory syndrome
  • p.Gly554= Multiple submitters autoinflammatory syndrome
  • p.Gly714Ser Multiple submitters autoinflammatory syndrome
  • p.Leu308= Multiple submitters autoinflammatory syndrome
  • p.Leu832= Multiple submitters autoinflammatory syndrome
  • p.Phe390= Multiple submitters autoinflammatory syndrome
  • p.Phe492= Multiple submitters pityriasis rubra pilaris
  • p.Pro506Leu Multiple submitters autoinflammatory syndrome
  • p.Ser200Asn Multiple submitters autoinflammatory syndrome
  • p.Ser200Ile Multiple submitters autoinflammatory syndrome ⚠
  • p.Ser553= Multiple submitters autoinflammatory syndrome
  • p.Ser602= Multiple submitters autoinflammatory syndrome
  • p.Ser801= Multiple submitters pityriasis rubra pilaris
  • p.Ser9= Multiple submitters autoinflammatory syndrome
  • p.Thr591Met Multiple submitters psoriasis 2 ⚠
  • p.Val110Ala Multiple submitters pityriasis rubra pilaris

Likely benign 414

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

Uncertain significance 686

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