Sugi Variant

Sugi Variant/COL4A2

COL4A2 — 1882 ClinVar variants

All ClinVar germline COL4A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 711 flagged for review →

34 Pathogenic · 2 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 126 Conflicting · 266 Benign · 85 Benign/Likely benign · 555 Likely benign · 759 Uncertain significance

Full COL4A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 711

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 2

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

Predictors agree, ClinVar conflicts 76

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

Predictors lean, ClinVar uncertain 506

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 506

Predictors split 127

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

All COL4A2 variants

Pathogenic 34

Pathogenic/Likely pathogenic 2

  • c.361-1G>A Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Gly1389Arg Multiple submitters COL4A2-related disorder

Likely pathogenic 55

Conflicting classifications of pathogenicity 126

Benign 266

Benign/Likely benign 85

  • c.1189+19A>G Multiple submitters
  • c.1669+5G>C Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.181-16T>C Multiple submitters
  • c.181-18C>A Multiple submitters
  • c.1978+10A>G Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.1979-6C>T Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.2039-3C>T Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.2095+9C>T Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.3025+17G>A Multiple submitters
  • c.315+14G>T Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.3271+14G>A Multiple submitters
  • c.3346+7A>G Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.3454+13G>A Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.3455-5C>G Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.360+12G>A Multiple submitters
  • c.3634+12C>T Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.3634+13G>A Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.3634+4C>T Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.4138+16G>A Multiple submitters
  • c.44+9C>T Multiple submitters
  • c.4594+17C>T Multiple submitters
  • c.4882-13C>G Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.4882-7T>C Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.549+15G>C Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.649-16C>T Multiple submitters
  • c.684+8G>A Multiple submitters brain small vessel disease 2A, autosomal dominant
  • c.99+16C>T Multiple submitters
  • c.*25T>C Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Ala1078= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Ala1328= Multiple submitters
  • p.Ala1526= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Ala1579= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Ala1690= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Ala459Thr Multiple submitters Inborn genetic diseases
  • p.Ala638= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Ala668= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Arg1109Gln Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Arg400Thr Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Arg86His Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Asp1214= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Asp244= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Asp724= Multiple submitters
  • p.Gln1150Lys Multiple submitters hemorrhage, intracerebral, susceptibility to
  • p.Glu1123Gly Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Glu1467Ala Multiple submitters Inborn genetic diseases
  • p.Gly1389= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Gly223= Multiple submitters
  • p.Gly296= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Gly500= Multiple submitters
  • p.Gly671Ser Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Gly684Ala Multiple submitters Inborn genetic diseases
  • p.Ile1488= Multiple submitters
  • p.Ile1656= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Leu17= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Leu748= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Leu777= Multiple submitters
  • p.Lys337= Multiple submitters
  • p.Lys597Arg Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Met1355Thr Multiple submitters
  • p.Met1419Thr Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Met1419Val Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Phe1132= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro1014= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro1042= Multiple submitters
  • p.Pro1045= Multiple submitters
  • p.Pro1307Arg Multiple submitters Inborn genetic diseases
  • p.Pro132Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1382= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro1476= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro1479Leu Multiple submitters brain small vessel disease 2A, autosomal dominant ⚠
  • p.Pro1572= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro1643= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro198= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro443Arg Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro649Ser Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro828= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Pro837Ser Multiple submitters Inborn genetic diseases
  • p.Pro940= Multiple submitters
  • p.Ser1639Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr156= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Thr552Lys Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Val1486Ile Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Val1592= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Val192= Multiple submitters brain small vessel disease 2A, autosomal dominant
  • p.Val192Phe Multiple submitters brain small vessel disease 2A, autosomal dominant

Likely benign 555

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

Uncertain significance 759

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