ITGAV — 166 ClinVar variants
All ClinVar germline ITGAV variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
3 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 5 Benign · 15 Likely benign · 140 Uncertain significance
Full ITGAV gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
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 lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ITGAV p.Met990Ile Uncertain significance Multiple submitters
- ITGAV p.Ala245Thr Uncertain significance Single submitter
- ITGAV p.Ala352Thr Uncertain significance Single submitter
- ITGAV p.Ala389Thr Uncertain significance Single submitter
- ITGAV p.Ala475Asp Uncertain significance Single submitter
- ITGAV p.Ala570Val Uncertain significance Single submitter
- ITGAV p.Ala692Pro Uncertain significance Single submitter
- ITGAV p.Ala925Val Uncertain significance Single submitter
- ITGAV p.Arg1017Lys Uncertain significance Single submitter
- ITGAV p.Arg1023Trp Uncertain significance Single submitter
- ITGAV p.Arg10Leu Uncertain significance Single submitter
- ITGAV p.Arg241Gln Uncertain significance Single submitter
- ITGAV p.Arg29Leu Uncertain significance Single submitter
- ITGAV p.Arg333Cys Uncertain significance Single submitter
- ITGAV p.Arg409Lys Uncertain significance Single submitter
- ITGAV p.Arg539Gln Uncertain significance Single submitter
- ITGAV p.Arg559Ser Uncertain significance Single submitter
- ITGAV p.Arg592Gly Uncertain significance Single submitter
- ITGAV p.Arg6Gln Uncertain significance Single submitter
- ITGAV p.Arg728Cys Uncertain significance Single submitter
- ITGAV p.Arg883Gln Uncertain significance Single submitter
- ITGAV p.Arg883Trp Uncertain significance Single submitter
- ITGAV p.Arg890Trp Uncertain significance Single submitter
- ITGAV p.Arg918Thr Uncertain significance Single submitter
- ITGAV p.Arg96Gln Uncertain significance Single submitter
- ITGAV p.Asn228Ser Uncertain significance Single submitter
- ITGAV p.Asn296Ser Uncertain significance Single submitter
- ITGAV p.Asn488Ser Uncertain significance Single submitter
- ITGAV p.Asn488Tyr Uncertain significance Single submitter
- ITGAV p.Asn751Asp Uncertain significance Single submitter
- ITGAV p.Asp103Gly Uncertain significance Single submitter
- ITGAV p.Asp178Asn Uncertain significance Single submitter
- ITGAV p.Asp226Glu Uncertain significance Single submitter
- ITGAV p.Asp381Asn Uncertain significance Single submitter
- ITGAV p.Asp855Val Uncertain significance Single submitter
- ITGAV p.Cys502Arg Uncertain significance Single submitter
- ITGAV p.Gln807Glu Uncertain significance Single submitter
- ITGAV p.Glu147Lys Uncertain significance Single submitter
- ITGAV p.Glu637Ala Uncertain significance Single submitter
- ITGAV p.Glu703Gln Uncertain significance Single submitter
- ITGAV p.Glu773Asp Uncertain significance Single submitter
- ITGAV p.Gly253Asp Uncertain significance Single submitter
- ITGAV p.Gly354Arg Uncertain significance Single submitter
- ITGAV p.Gly560Arg Uncertain significance Single submitter
- ITGAV p.Gly726Val Uncertain significance Single submitter
- ITGAV p.Gly803Arg Uncertain significance Single submitter
- ITGAV p.Gly879Arg Uncertain significance Single submitter
- ITGAV p.Gly879Glu Uncertain significance Single submitter
- ITGAV p.His1039Arg Uncertain significance Single submitter
- ITGAV p.Ile100Val Uncertain significance Single submitter
- ITGAV p.Ile232Val Uncertain significance Single submitter
- ITGAV p.Ile325Phe Uncertain significance Single submitter
- ITGAV p.Ile374Val Uncertain significance Single submitter
- ITGAV p.Ile390Val Uncertain significance Single submitter
- ITGAV p.Ile471Asn Uncertain significance Single submitter
- ITGAV p.Ile557Val Uncertain significance Single submitter
- ITGAV p.Ile674Val Uncertain significance Single submitter
- ITGAV p.Leu25Val Uncertain significance Single submitter
- ITGAV p.Leu329Ile Uncertain significance Single submitter
- ITGAV p.Leu542Pro Uncertain significance Single submitter
- ITGAV p.Leu608Val Uncertain significance Single submitter
- ITGAV p.Leu696Pro Uncertain significance Single submitter
- ITGAV p.Leu752Ile Uncertain significance Single submitter
- ITGAV p.Lys233Glu Uncertain significance Single submitter
- ITGAV p.Lys446Glu Uncertain significance Single submitter
- ITGAV p.Lys660Glu Uncertain significance Single submitter
- ITGAV p.Lys88Arg Uncertain significance Single submitter
- ITGAV p.Lys930Asn Uncertain significance Single submitter
- ITGAV p.Met64Val Uncertain significance Single submitter
- ITGAV p.Met717Val Uncertain significance Single submitter
- ITGAV p.Met856Val Uncertain significance Single submitter
- ITGAV p.Phe578Val Uncertain significance Single submitter
- ITGAV p.Pro26Leu Uncertain significance Single submitter
- ITGAV p.Pro417Ala Uncertain significance Single submitter
- ITGAV p.Pro606Ser Uncertain significance Single submitter
- ITGAV p.Pro78Ala Uncertain significance Single submitter
- ITGAV p.Pro830Arg Uncertain significance Single submitter
- ITGAV p.Pro830Leu Uncertain significance Single submitter
- ITGAV p.Pro967Ala Uncertain significance Single submitter
- ITGAV p.Ser778Leu Uncertain significance Single submitter
- ITGAV p.Ser895Gly Uncertain significance Single submitter
- ITGAV p.Ser947Thr Uncertain significance Single submitter
- ITGAV p.Thr157Lys Uncertain significance Single submitter
- ITGAV p.Thr496Ala Uncertain significance Single submitter
- ITGAV p.Thr586Ser Uncertain significance Single submitter
- ITGAV p.Thr612Met Uncertain significance Single submitter
- ITGAV p.Thr75Ile Uncertain significance Single submitter
- ITGAV p.Thr94Ile Uncertain significance Single submitter
- ITGAV p.Tyr295Ser Uncertain significance Single submitter
- ITGAV p.Tyr480Asp Uncertain significance Single submitter
- ITGAV p.Val1012Ile Uncertain significance Single submitter
- ITGAV p.Val1014Leu Uncertain significance Single submitter
- ITGAV p.Val155Ala Uncertain significance Single submitter
- ITGAV p.Val222Ile Uncertain significance Single submitter
- ITGAV p.Val258Ala Uncertain significance Single submitter
- ITGAV p.Val403Ile Uncertain significance Single submitter
- ITGAV p.Val454Ile Uncertain significance Single submitter
- ITGAV p.Val687Ile Uncertain significance Single submitter
- ITGAV p.Val764Ile Uncertain significance Single submitter
- ITGAV p.Val802Ile Uncertain significance Single submitter
- ITGAV p.Val929Ile Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- ITGAV p.Ala243Val Uncertain significance Single submitter
- ITGAV p.Ala462Thr Uncertain significance Single submitter
- ITGAV p.Ala694Glu Uncertain significance Single submitter
- ITGAV p.Arg1025Gln Uncertain significance Single submitter
- ITGAV p.Arg108Thr Uncertain significance Single submitter
- ITGAV p.Arg152Gln Uncertain significance Single submitter
- ITGAV p.Arg241Trp Uncertain significance Single submitter
- ITGAV p.Arg409Ile Uncertain significance Single submitter
- ITGAV p.Arg63Trp Uncertain significance Single submitter
- ITGAV p.Arg707His Uncertain significance Single submitter
- ITGAV p.Arg96Trp Uncertain significance Single submitter
- ITGAV p.Asn107Ser Uncertain significance Single submitter
- ITGAV p.Asp113Tyr Uncertain significance Single submitter
- ITGAV p.Asp34Glu Uncertain significance Single submitter
- ITGAV p.Glu1029Lys Uncertain significance Single submitter
- ITGAV p.Glu960Lys Uncertain significance Single submitter
- ITGAV p.Gly412Ser Uncertain significance Single submitter
- ITGAV p.Gly515Glu Uncertain significance Single submitter
- ITGAV p.Gly917Arg Uncertain significance Single submitter
- ITGAV p.Gly922Arg Uncertain significance Single submitter
- ITGAV p.Ile453Ser Uncertain significance Single submitter
- ITGAV p.Leu20Phe Uncertain significance Single submitter
- ITGAV p.Leu23Phe Uncertain significance Single submitter
- ITGAV p.Phe356Leu Uncertain significance Single submitter
- ITGAV p.Phe56Leu Uncertain significance Single submitter
- ITGAV p.Phe611Leu Uncertain significance Single submitter
- ITGAV p.Pro1027Arg Uncertain significance Single submitter
- ITGAV p.Pro432Gln Uncertain significance Single submitter
- ITGAV p.Ser761Phe Uncertain significance Single submitter
- ITGAV p.Tyr284Cys Uncertain significance Single submitter
- ITGAV p.Tyr394Cys Uncertain significance Single submitter
- ITGAV p.Val783Ala Uncertain significance Single submitter
All ITGAV variants
Pathogenic 3
- c.1719+1G>A Single submitter
- p.Asp379Val Single submitter ITGAV deficiency
- p.Trp144Cys Single submitter ITGAV deficiency
Pathogenic/Likely pathogenic 2
- c.1564+3_1564+6del No assertion criteria ITGAV deficiency
- c.2247-1G>A No assertion criteria ITGAV deficiency
Likely pathogenic 1
- c.903+1G>C Single submitter Susceptibility to severe COVID-19
Benign 5
- p.Ala570= Multiple submitters
- p.Glu147= Multiple submitters
- p.Tyr225= Multiple submitters
- c.956+8T>A Single submitter
- p.Ala988= Single submitter
Likely benign 15
- c.1719+10A>G Single submitter
- p.Arg592Trp Single submitter
- p.Ile684= Single submitter
- p.Ser550Gly Single submitter
- c.2247-10dup No assertion criteria ITGAV-related disorder
- c.802+8G>A No assertion criteria ITGAV-related disorder
- c.803-22TTTG[5] No assertion criteria ITGAV-related disorder
- c.*2T>C No assertion criteria ITGAV-related disorder
- p.Arg351= No assertion criteria ITGAV-related disorder
- p.Asn414= No assertion criteria ITGAV-related disorder
- p.Glu1030= No assertion criteria ITGAV-related disorder
- p.Phe434= No assertion criteria ITGAV-related disorder
- p.Ser548Ala No assertion criteria ITGAV-related disorder
- p.Ser552Phe No assertion criteria ITGAV-related disorder
- p.Val222= No assertion criteria ITGAV-related disorder
Uncertain significance 140
- p.Met990Ile Multiple submitters ⚠
- p.Ala243Val Single submitter ⚠
- p.Ala245Thr Single submitter ⚠
- p.Ala327Thr Single submitter
- p.Ala352Thr Single submitter ⚠
- p.Ala389Thr Single submitter ⚠
- p.Ala462Thr Single submitter ⚠
- p.Ala475Asp Single submitter ⚠
- p.Ala570Val Single submitter ⚠
- p.Ala692Pro Single submitter ⚠
- p.Ala694Glu Single submitter ⚠
- p.Ala925Val Single submitter ⚠
- p.Arg1017Lys Single submitter ⚠
- p.Arg1023Trp Single submitter ⚠
- p.Arg1025Gln Single submitter ⚠
- p.Arg108Thr Single submitter ⚠
- p.Arg10Leu Single submitter ⚠
- p.Arg152Gln Single submitter ⚠
- p.Arg241Gln Single submitter ⚠
- p.Arg241Trp Single submitter ⚠
- p.Arg29Leu Single submitter ⚠
- p.Arg333Cys Single submitter ⚠
- p.Arg409Ile Single submitter ⚠
- p.Arg409Lys Single submitter ⚠
- p.Arg539Gln Single submitter ⚠
- p.Arg559Ser Single submitter ⚠
- p.Arg592Gly Single submitter ⚠
- p.Arg63Trp Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Arg707His Single submitter ⚠
- p.Arg728Cys Single submitter ⚠
- p.Arg883Gln Single submitter ⚠
- p.Arg883Trp Single submitter ⚠
- p.Arg890Trp Single submitter ⚠
- p.Arg918Thr Single submitter ⚠
- p.Arg96Gln Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asn228Ser Single submitter ⚠
- p.Asn296Ser Single submitter ⚠
- p.Asn488Ser Single submitter ⚠
- p.Asn488Tyr Single submitter ⚠
- p.Asn751Asp Single submitter ⚠
- p.Asp103Gly Single submitter ⚠
- p.Asp113Tyr Single submitter ⚠
- p.Asp178Asn Single submitter ⚠
- p.Asp226Glu Single submitter ⚠
- p.Asp34Glu Single submitter ⚠
- p.Asp381Asn Single submitter ⚠
- p.Asp652Gly Single submitter
- p.Asp855Val Single submitter ⚠
- p.Cys502Arg Single submitter ⚠
- p.Gln807Glu Single submitter ⚠
- p.Glu1029Lys Single submitter ⚠
- p.Glu147Lys Single submitter ⚠
- p.Glu637Ala Single submitter ⚠
- p.Glu703Gln Single submitter ⚠
- p.Glu773Asp Single submitter ⚠
- p.Glu960Lys Single submitter ⚠
- p.Gly253Asp Single submitter ⚠
- p.Gly354Arg Single submitter ⚠
- p.Gly412Ser Single submitter ⚠
- p.Gly515Glu Single submitter ⚠
- p.Gly560Arg Single submitter ⚠
- p.Gly726Val Single submitter ⚠
- p.Gly803Arg Single submitter ⚠
- p.Gly879Arg Single submitter ⚠
- p.Gly879Glu Single submitter ⚠
- p.Gly917Arg Single submitter ⚠
- p.Gly922Arg Single submitter ⚠
- p.His1039Arg Single submitter ⚠
- p.Ile100Val Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile325Phe Single submitter ⚠
- p.Ile374Val Single submitter ⚠
- p.Ile388Thr Single submitter
- p.Ile390Val Single submitter ⚠
- p.Ile453Ser Single submitter ⚠
- p.Ile471Asn Single submitter ⚠
- p.Ile557Val Single submitter ⚠
- p.Ile616Ser Single submitter
- p.Ile649Thr Single submitter
- p.Ile674Val Single submitter ⚠
- p.Leu20Phe Single submitter ⚠
- p.Leu23Phe Single submitter ⚠
- p.Leu25Val Single submitter ⚠
- p.Leu329Ile Single submitter ⚠
- p.Leu542Pro Single submitter ⚠
- p.Leu608Val Single submitter ⚠
- p.Leu696Pro Single submitter ⚠
- p.Leu752Ile Single submitter ⚠
- p.Lys233Glu Single submitter ⚠
- p.Lys446Glu Single submitter ⚠
- p.Lys660Glu Single submitter ⚠
- p.Lys88Arg Single submitter ⚠
- p.Lys930Asn Single submitter ⚠
- p.Met64Val Single submitter ⚠
- p.Met717Val Single submitter ⚠
- p.Met856Val Single submitter ⚠
- p.Phe356Leu Single submitter ⚠
- p.Phe56Leu Single submitter ⚠
- p.Phe578Val Single submitter ⚠
- p.Phe611Leu Single submitter ⚠
- p.Pro1027Arg Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro417Ala Single submitter ⚠
- p.Pro432Gln Single submitter ⚠
- p.Pro606Ser Single submitter ⚠
- p.Pro78Ala Single submitter ⚠
- p.Pro830Arg Single submitter ⚠
- p.Pro830Leu Single submitter ⚠
- p.Pro967Ala Single submitter ⚠
- p.Ser761Phe Single submitter ⚠
- p.Ser778Leu Single submitter ⚠
- p.Ser895Gly Single submitter ⚠
- p.Ser947Thr Single submitter ⚠
- p.Thr157Lys Single submitter ⚠
- p.Thr496Ala Single submitter ⚠
- p.Thr586Ser Single submitter ⚠
- p.Thr612Met Single submitter ⚠
- p.Thr75Ile Single submitter ⚠
- p.Thr94Ile Single submitter ⚠
- p.Tyr284Cys Single submitter ⚠
- p.Tyr295Ser Single submitter ⚠
- p.Tyr394Cys Single submitter ⚠
- p.Tyr480Asp Single submitter ⚠
- p.Val1012Ile Single submitter ⚠
- p.Val1014Leu Single submitter ⚠
- p.Val155Ala Single submitter ⚠
- p.Val222Ile Single submitter ⚠
- p.Val258Ala Single submitter ⚠
- p.Val403Ile Single submitter ⚠
- p.Val454Ile Single submitter ⚠
- p.Val525Met Single submitter
- p.Val687Ile Single submitter ⚠
- p.Val741Met Single submitter
- p.Val764Ile Single submitter ⚠
- p.Val783Ala Single submitter ⚠
- p.Val802Ile Single submitter ⚠
- p.Val929Ile Single submitter ⚠