Sugi Variant

Sugi Variant/COL4A4

COL4A4 — 3560 ClinVar variants

All ClinVar germline COL4A4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1026 flagged for review →

214 Pathogenic · 112 Pathogenic/Likely pathogenic · 494 Likely pathogenic · 303 Conflicting · 181 Benign · 34 Benign/Likely benign · 1275 Likely benign · 947 Uncertain significance

Full COL4A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1026

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 27

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

Predictors agree, ClinVar conflicts 138

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

Predictors lean, ClinVar uncertain 383

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 383

Predictors split 478

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 478

All COL4A4 variants

Pathogenic 214

Pathogenic/Likely pathogenic 112

  • c.1099+1G>T Multiple submitters autosomal recessive Alport syndrome
  • c.1321_1369+3del Multiple submitters autosomal recessive Alport syndrome
  • c.1369+1G>A Multiple submitters Alport syndrome
  • c.1697-1G>A Multiple submitters autosomal recessive Alport syndrome
  • c.1803+2T>C Multiple submitters Alport syndrome
  • c.193-2A>C Multiple submitters autosomal recessive Alport syndrome
  • c.2383+1G>A Multiple submitters autosomal recessive Alport syndrome
  • c.2385del Multiple submitters Alport syndrome
  • c.3214+1G>T Multiple submitters hematuria, benign familial, 1
  • c.3818-1G>A Multiple submitters autosomal recessive Alport syndrome
  • c.3861delinsCTC Multiple submitters autosomal recessive Alport syndrome
  • c.4082-1G>T Multiple submitters hematuria, benign familial
  • c.4333+2T>G Multiple submitters hematuria, benign familial, 1
  • c.559-2A>C Multiple submitters Alport syndrome
  • c.559-2A>G Multiple submitters autosomal recessive Alport syndrome
  • c.559-2A>T Multiple submitters autosomal recessive Alport syndrome
  • c.594+1G>A Multiple submitters autosomal recessive Alport syndrome
  • c.71+1del Multiple submitters hematuria, benign familial
  • c.735+2T>C Multiple submitters autosomal recessive Alport syndrome
  • c.914_930+29del Multiple submitters Alport syndrome
  • c.930+1G>A Multiple submitters hematuria, benign familial, 1
  • c.930+1G>T Multiple submitters autosomal recessive Alport syndrome
  • p.Ala1573fs Multiple submitters Alport syndrome
  • p.Ala493fs Multiple submitters autosomal recessive Alport syndrome
  • p.Ala793fs Multiple submitters Alport syndrome
  • p.Arg1377Ter Multiple submitters hematuria, benign familial, 1
  • p.Arg349Ter Multiple submitters Inborn genetic diseases
  • p.Arg641Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Arg830fs Multiple submitters Alport syndrome
  • p.Arg989_Gly990insTer Multiple submitters autosomal recessive Alport syndrome
  • p.Asn464fs Multiple submitters autosomal recessive Alport syndrome
  • p.Cys1294fs Multiple submitters autosomal recessive Alport syndrome
  • p.Cys1375fs Multiple submitters Alport syndrome
  • p.Cys1588fs Multiple submitters autosomal dominant Alport syndrome
  • p.Gln1105fs Multiple submitters autosomal recessive Alport syndrome
  • p.Gln1111Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Gln1263Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Gln250Ter Multiple submitters Alport syndrome
  • p.Gln468Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Gln511Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Glu1104fs Multiple submitters autosomal recessive Alport syndrome
  • p.Glu1365Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Gly1002fs Multiple submitters Alport syndrome
  • p.Gly1008Arg Multiple submitters Autosomal dominant COL4A4-related disorders ⚠
  • p.Gly1018Arg Multiple submitters hematuria, benign familial, 1
  • p.Gly1091Arg Multiple submitters Alport syndrome
  • p.Gly1163Asp Multiple submitters hematuria, benign familial, 1
  • p.Gly1172Ter Multiple submitters hematuria, benign familial, 1
  • p.Gly1213fs Multiple submitters autosomal recessive Alport syndrome
  • p.Gly1264Val Multiple submitters Alport syndrome
  • p.Gly128fs Multiple submitters autosomal recessive Alport syndrome
  • p.Gly149Glu Multiple submitters autosomal recessive Alport syndrome
  • p.Gly149Val Multiple submitters hematuria, benign familial
  • p.Gly223fs Multiple submitters autosomal recessive Alport syndrome
  • p.Gly226fs Multiple submitters
  • p.Gly252Asp Multiple submitters hematuria, benign familial, 1
  • p.Gly252Val Multiple submitters autosomal recessive Alport syndrome ⚠
  • p.Gly314Asp Multiple submitters hematuria, benign familial
  • p.Gly341Asp Multiple submitters autosomal recessive Alport syndrome
  • p.Gly367Ser Multiple submitters COL4A4-related disorder ⚠
  • p.Gly382Ala Multiple submitters hematuria, benign familial, 1 ⚠
  • p.Gly408fs Multiple submitters autosomal recessive Alport syndrome
  • p.Gly451Asp Multiple submitters Alport syndrome ⚠
  • p.Gly469Ter Multiple submitters Alport syndrome
  • p.Gly478Glu Multiple submitters Alport syndrome
  • p.Gly503fs Multiple submitters Alport syndrome
  • p.Gly527Cys Multiple submitters autosomal recessive Alport syndrome
  • p.Gly527fs Multiple submitters hematuria, benign familial, 1
  • p.Gly533Asp Multiple submitters autosomal recessive Alport syndrome
  • p.Gly572Ala Multiple submitters Alport syndrome ⚠
  • p.Gly593Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Gly596fs Multiple submitters autosomal recessive Alport syndrome
  • p.Gly619Asp Multiple submitters Alport syndrome
  • p.Gly648Asp Multiple submitters Alport syndrome
  • p.Gly677Ser Multiple submitters Alport syndrome ⚠
  • p.Gly698Arg Multiple submitters hematuria, benign familial, 1
  • p.Gly751Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Gly792Arg Multiple submitters Alport syndrome
  • p.Gly837Ala Multiple submitters autosomal recessive Alport syndrome ⚠
  • p.Gly873Arg Multiple submitters Alport syndrome
  • p.Gly873fs Multiple submitters autosomal recessive Alport syndrome
  • p.Gly897Glu Multiple submitters hematuria, benign familial, 1
  • p.Gly912Arg Multiple submitters hematuria, benign familial
  • p.Gly918Arg Multiple submitters Alport syndrome
  • p.Gly957Arg Multiple submitters autosomal recessive Alport syndrome
  • p.His1013fs Multiple submitters autosomal recessive Alport syndrome
  • p.Leu1467fs Multiple submitters autosomal recessive Alport syndrome
  • p.Leu943fs Multiple submitters hematuria, benign familial
  • p.Lys706Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Met1484fs Multiple submitters autosomal recessive Alport syndrome
  • p.Met1551fs Multiple submitters autosomal recessive Alport syndrome
  • p.Pro1360fs Multiple submitters hematuria, benign familial, 1
  • p.Pro1385fs Multiple submitters autosomal recessive Alport syndrome
  • p.Pro1515fs Multiple submitters autosomal recessive Alport syndrome
  • p.Pro1587fs Multiple submitters focal segmental glomerulosclerosis 7
  • p.Pro390fs Multiple submitters autosomal recessive Alport syndrome
  • p.Pro409fs Multiple submitters Alport syndrome
  • p.Pro444_Leu449del Multiple submitters Inborn genetic diseases
  • p.Pro502fs Multiple submitters autosomal recessive Alport syndrome
  • p.Pro630fs Multiple submitters hematuria, benign familial
  • p.Pro99fs Multiple submitters Alport syndrome
  • p.Ser1116Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Ser63fs Multiple submitters Alport syndrome
  • p.Trp1542Ter Multiple submitters Alport syndrome
  • p.Trp1651Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Trp24Ter Multiple submitters Alport syndrome
  • p.Trp522Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Tyr1311Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Tyr1462Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Tyr1541Ter Multiple submitters autosomal recessive Alport syndrome
  • p.Tyr43Ter Multiple submitters hematuria, benign familial, 1
  • p.Pro617fs No assertion criteria

Likely pathogenic 494

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

Conflicting classifications of pathogenicity 303

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

Benign 181

Benign/Likely benign 34

Likely benign 1275

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

Uncertain significance 947

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