Sugi Variant

Sugi Variant/GNA11

GNA11 — 435 ClinVar variants

All ClinVar germline GNA11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

9 Pathogenic · 3 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 7 Conflicting · 37 Benign · 15 Benign/Likely benign · 186 Likely benign · 165 Uncertain significance

Full GNA11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 2

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 32

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

All GNA11 variants

Pathogenic 9

  • p.Arg183Cys Single submitter vascular malformation
  • p.Arg60Leu Single submitter autosomal dominant hypocalcemia 2
  • p.Gln209Arg Single submitter
  • p.Gln209His Single submitter Venous malformation
  • p.Gln209Pro Single submitter
  • c.322-1G>T No assertion criteria familial hypocalciuric hypercalcemia 2
  • p.Ile200del No assertion criteria familial hypocalciuric hypercalcemia 2
  • p.Leu135Gln No assertion criteria familial hypocalciuric hypercalcemia 2
  • p.Ser211Trp No assertion criteria autosomal dominant hypocalcemia 2

Pathogenic/Likely pathogenic 3

Likely pathogenic 13

  • p.Arg149His Multiple submitters familial hypocalciuric hypercalcemia 2
  • c.735+1G>A Single submitter
  • c.736-1G>C Single submitter GNA11-related disorders
  • p.Arg183His Single submitter familial multiple nevi flammei
  • p.Arg183Phe Single submitter capillary malformation
  • p.Arg183Pro Single submitter autosomal dominant hypocalcemia 2
  • p.Gln209Glu Single submitter
  • p.Lys276Ter Single submitter
  • p.Met248fs Single submitter
  • p.Thr54Met Single submitter familial hypocalciuric hypercalcemia 2
  • p.Asn198fs No assertion criteria Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
  • p.Tyr192Ter No assertion criteria familial hypocalciuric hypercalcemia 2
  • p.Val206fs No assertion criteria familial hypocalciuric hypercalcemia 2

Conflicting classifications of pathogenicity 7

  • c.605+10G>A Single submitter familial hypocalciuric hypercalcemia 2
  • c.736-5G>A Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
  • c.889+15G>A Single submitter autosomal dominant hypocalcemia 2
  • p.Arg183= Single submitter autosomal dominant hypocalcemia 2
  • p.Gly46= Single submitter autosomal dominant hypocalcemia 2
  • p.Leu170Met Single submitter Inborn genetic diseases ⚠
  • p.Val179Met Single submitter familial hypoparathyroidism ⚠

Benign 37

Benign/Likely benign 15

Likely benign 186

Uncertain significance 165