AVIL — 191 ClinVar variants
All ClinVar germline AVIL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →
2 Pathogenic · 5 Likely pathogenic · 1 Conflicting · 15 Benign · 18 Likely benign · 150 Uncertain significance
Full AVIL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 153
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AVIL p.Arg135Gln
Likely pathogenic
Single submitter
nephrotic syndrome, type 21
-
AVIL p.Arg446His
Pathogenic
No assertion criteria
nephrotic syndrome, type 21
-
AVIL p.Leu425Met
Pathogenic
No assertion criteria
nephrotic syndrome, type 21
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AVIL p.Gly577Ser Uncertain significance Multiple submitters
-
AVIL p.Ile250Thr
Uncertain significance
Multiple submitters
nephrotic syndrome, type 21
- AVIL p.Ala732Gly Uncertain significance Single submitter
- AVIL p.Ala734Thr Uncertain significance Single submitter
- AVIL p.Ala734Val Uncertain significance Single submitter
- AVIL p.Ala779Thr Uncertain significance Single submitter
- AVIL p.Ala802Val Uncertain significance Single submitter
- AVIL p.Ala9Ser Uncertain significance Single submitter
- AVIL p.Arg49Gln Uncertain significance Single submitter
- AVIL p.Arg564Gln Uncertain significance Single submitter
- AVIL p.Asn331Ser Uncertain significance Single submitter
- AVIL p.Asn36Ser Uncertain significance Single submitter
- AVIL p.Asn580Lys Uncertain significance Single submitter
-
AVIL p.Asn750Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 21
- AVIL p.Asp11His Uncertain significance Single submitter
- AVIL p.Asp350Gly Uncertain significance Single submitter
- AVIL p.Asp391Asn Uncertain significance Single submitter
-
AVIL p.Asp41Asn
Uncertain significance
Single submitter
nephrotic syndrome, type 21
- AVIL p.Asp541His Uncertain significance Single submitter
- AVIL p.Asp576His Uncertain significance Single submitter
- AVIL p.Asp712Gly Uncertain significance Single submitter
- AVIL p.Asp84Glu Uncertain significance Single submitter
- AVIL p.Gln306Glu Uncertain significance Single submitter
- AVIL p.Glu335Gly Uncertain significance Single submitter
- AVIL p.Glu507Lys Uncertain significance Single submitter
- AVIL p.Glu569Gln Uncertain significance Single submitter
- AVIL p.Glu774Asp Uncertain significance Single submitter
- AVIL p.Gly117Arg Uncertain significance Single submitter
- AVIL p.Gly118Arg Uncertain significance Single submitter
- AVIL p.Gly420Arg Uncertain significance Single submitter
- AVIL p.Gly498Ser Uncertain significance Single submitter
- AVIL p.Gly577Asp Uncertain significance Single submitter
- AVIL p.Gly685Ser Uncertain significance Single submitter
- AVIL p.Ile250Val Uncertain significance Single submitter
- AVIL p.Ile361Thr Uncertain significance Single submitter
-
AVIL p.Ile402Val
Uncertain significance
Single submitter
nephrotic syndrome, type 21
- AVIL p.Ile59Thr Uncertain significance Single submitter
- AVIL p.Leu165Pro Uncertain significance Single submitter
- AVIL p.Leu185Val Uncertain significance Single submitter
- AVIL p.Leu453Val Uncertain significance Single submitter
- AVIL p.Leu612Pro Uncertain significance Single submitter
- AVIL p.Leu785Phe Uncertain significance Single submitter
- AVIL p.Lys245Arg Uncertain significance Single submitter
- AVIL p.Lys319Asn Uncertain significance Single submitter
- AVIL p.Lys345Asn Uncertain significance Single submitter
- AVIL p.Lys526Arg Uncertain significance Single submitter
- AVIL p.Lys568Arg Uncertain significance Single submitter
- AVIL p.Lys568Gln Uncertain significance Single submitter
- AVIL p.Lys598Arg Uncertain significance Single submitter
- AVIL p.Lys781Arg Uncertain significance Single submitter
- AVIL p.Lys781Met Uncertain significance Single submitter
- AVIL p.Met309Thr Uncertain significance Single submitter
- AVIL p.Met478Thr Uncertain significance Single submitter
- AVIL p.Met742Ile Uncertain significance Single submitter
- AVIL p.Phe108Ile Uncertain significance Single submitter
- AVIL p.Phe108Leu Uncertain significance Single submitter
- AVIL p.Phe343Leu Uncertain significance Single submitter
- AVIL p.Phe515Leu Uncertain significance Single submitter
- AVIL p.Pro177Arg Uncertain significance Single submitter
-
AVIL p.Pro482Ser
Uncertain significance
Single submitter
nephrotic syndrome, type 21
- AVIL p.Pro701Thr Uncertain significance Single submitter
- AVIL p.Ser216Asn Uncertain significance Single submitter
- AVIL p.Ser231Ala Uncertain significance Single submitter
- AVIL p.Ser501Phe Uncertain significance Single submitter
- AVIL p.Ser670Thr Uncertain significance Single submitter
- AVIL p.Ser684Gly Uncertain significance Single submitter
- AVIL p.Thr746Ala Uncertain significance Single submitter
- AVIL p.Tyr428His Uncertain significance Single submitter
- AVIL p.Tyr441His Uncertain significance Single submitter
- AVIL p.Tyr601His Uncertain significance Single submitter
- AVIL p.Val162Ile Uncertain significance Single submitter
- AVIL p.Val330Ile Uncertain significance Single submitter
- AVIL p.Val374Glu Uncertain significance Single submitter
- AVIL p.Val530Ile Uncertain significance Single submitter
- AVIL p.Val614Ile Uncertain significance Single submitter
Predictors split 75
The independent predictors disagree with each other — read with care.
-
AVIL p.Asn777Lys
Uncertain significance
Multiple submitters
nephrotic syndrome, type 21
- AVIL p.Ile659Thr Likely benign Multiple submitters
- AVIL p.Pro322Ser Benign Multiple submitters
- AVIL p.Ala120Thr Uncertain significance Single submitter
- AVIL p.Ala312Val Uncertain significance Single submitter
- AVIL p.Ala33Thr Uncertain significance Single submitter
- AVIL p.Ala457Ser Uncertain significance Single submitter
- AVIL p.Ala571Thr Uncertain significance Single submitter
- AVIL p.Ala671Thr Uncertain significance Single submitter
- AVIL p.Arg105His Uncertain significance Single submitter
- AVIL p.Arg135Trp Uncertain significance Single submitter
- AVIL p.Arg146Thr Uncertain significance Single submitter
- AVIL p.Arg184His Likely benign Single submitter
- AVIL p.Arg195Gln Uncertain significance Single submitter
- AVIL p.Arg199Gln Uncertain significance Single submitter
-
AVIL p.Asn144Ile
Uncertain significance
Single submitter
nephrotic syndrome, type 21
- AVIL p.Asp332Asn Uncertain significance Single submitter
- AVIL p.Asp464Val Uncertain significance Single submitter
- AVIL p.Asp541Tyr Uncertain significance Single submitter
- AVIL p.Asp84His Uncertain significance Single submitter
- AVIL p.Cys282Gly Uncertain significance Single submitter
- AVIL p.Gln306His Uncertain significance Single submitter
- AVIL p.Glu149Lys Uncertain significance Single submitter
- AVIL p.Glu209Lys Uncertain significance Single submitter
- AVIL p.Glu398Lys Uncertain significance Single submitter
- AVIL p.Glu411Lys Uncertain significance Single submitter
- AVIL p.Glu632Ala Uncertain significance Single submitter
- AVIL p.Gly111Ser Uncertain significance Single submitter
- AVIL p.Gly118Ala Uncertain significance Single submitter
- AVIL p.Gly289Glu Uncertain significance Single submitter
- AVIL p.Gly356Glu Uncertain significance Single submitter
- AVIL p.Gly561Val Uncertain significance Single submitter
- AVIL p.Gly626Ser Uncertain significance Single submitter
- AVIL p.Gly730Arg Uncertain significance Single submitter
- AVIL p.Ile112Val Uncertain significance Single submitter
- AVIL p.Ile16Phe Uncertain significance Single submitter
- AVIL p.Ile292Leu Uncertain significance Single submitter
- AVIL p.Ile316Phe Uncertain significance Single submitter
- AVIL p.Ile402Thr Uncertain significance Single submitter
- AVIL p.Ile761Thr Uncertain significance Single submitter
- AVIL p.Leu355Arg Uncertain significance Single submitter
- AVIL p.Leu377Pro Uncertain significance Single submitter
- AVIL p.Leu427Arg Uncertain significance Single submitter
- AVIL p.Leu747Arg Uncertain significance Single submitter
- AVIL p.Lys363Glu Uncertain significance Single submitter
- AVIL p.Lys380Arg Uncertain significance Single submitter
- AVIL p.Lys668Glu Uncertain significance Single submitter
- AVIL p.Met338Lys Uncertain significance Single submitter
- AVIL p.Met389Arg Uncertain significance Single submitter
- AVIL p.Phe372Ser Uncertain significance Single submitter
- AVIL p.Phe496Ser Uncertain significance Single submitter
- AVIL p.Pro805Ser Uncertain significance Single submitter
- AVIL p.Pro90Ser Uncertain significance Single submitter
- AVIL p.Ser539Thr Uncertain significance Single submitter
- AVIL p.Ser670Ile Uncertain significance Single submitter
- AVIL p.Ser792Phe Uncertain significance Single submitter
- AVIL p.Thr358Met Uncertain significance Single submitter
-
AVIL p.Thr429Ala
Uncertain significance
Single submitter
nephrotic syndrome, type 21
- AVIL p.Thr666Met Uncertain significance Single submitter
- AVIL p.Thr746Ile Uncertain significance Single submitter
- AVIL p.Tyr131Asn Uncertain significance Single submitter
- AVIL p.Tyr758Cys Uncertain significance Single submitter
- AVIL p.Val133Met Uncertain significance Single submitter
- AVIL p.Val139Met Uncertain significance Single submitter
- AVIL p.Val162Ala Uncertain significance Single submitter
- AVIL p.Val207Gly Uncertain significance Single submitter
- AVIL p.Val294Met Uncertain significance Single submitter
- AVIL p.Val348Ile Uncertain significance Single submitter
- AVIL p.Val408Ile Uncertain significance Single submitter
- AVIL p.Val410Met Uncertain significance Single submitter
- AVIL p.Val494Leu Uncertain significance Single submitter
- AVIL p.Val646Met Uncertain significance Single submitter
-
AVIL p.Glu667Lys
Uncertain significance
No assertion criteria
AVIL-related disorder
-
AVIL p.Gly299Arg
Likely benign
No assertion criteria
AVIL-related disorder
-
AVIL p.Leu747Phe
Likely benign
No assertion criteria
AVIL-related disorder
All AVIL variants
Pathogenic 2
- p.Arg446His No assertion criteria nephrotic syndrome, type 21 ⚠
- p.Leu425Met No assertion criteria nephrotic syndrome, type 21 ⚠
Likely pathogenic 5
- p.Arg199Ter Multiple submitters nephrotic syndrome, type 21
- p.Arg135Gln Single submitter nephrotic syndrome, type 21 ⚠
- p.Asp41fs Single submitter nephrotic syndrome, type 21
- p.Glu584Ter Single submitter nephrotic syndrome, type 21
- p.Lys169Ter Single submitter nephrotic syndrome, type 21
Conflicting classifications of pathogenicity 1
- p.Phe656fs Single submitter nephrotic syndrome, type 21
Benign 15
- c.1194+202C>T Multiple submitters
- c.2151+142A>G Multiple submitters
- c.2151+170G>A Multiple submitters
- c.67-155C>T Multiple submitters
- c.939+116T>C Multiple submitters
- c.939+26G>A Multiple submitters
- c.939+3A>T Multiple submitters
- c.940-88G>T Multiple submitters
- p.Asn12= Multiple submitters
- p.Lys204Glu Multiple submitters nephrotic syndrome, type 21
- p.Lys492= Multiple submitters
- p.Pro322Ser Multiple submitters ⚠
- c.2152-9T>C Single submitter
- c.2346+130A>G Single submitter
- c.559-97dup Single submitter
Likely benign 18
- p.Ile659Thr Multiple submitters ⚠
- p.Ala203= Single submitter
- p.Arg184His Single submitter ⚠
- p.Asn767= Single submitter
- p.Asp132Asn Single submitter
- p.Leu570= Single submitter
- p.Leu804= Single submitter
- p.Val629Ile Single submitter
- c.1818-6T>C No assertion criteria AVIL-related disorder
- c.1963-7_1963-6insTG No assertion criteria AVIL-related disorder
- p.Gln413= No assertion criteria AVIL-related disorder
- p.Gly299Arg No assertion criteria AVIL-related disorder ⚠
- p.Gly434= No assertion criteria AVIL-related disorder
- p.Leu679= No assertion criteria AVIL-related disorder
- p.Leu747Phe No assertion criteria AVIL-related disorder ⚠
- p.Leu764= No assertion criteria AVIL-related disorder
- p.Thr148= No assertion criteria AVIL-related disorder
- p.Val29= No assertion criteria AVIL-related disorder
Uncertain significance 150
- p.Asn777Lys Multiple submitters nephrotic syndrome, type 21 ⚠
- p.Gly577Ser Multiple submitters ⚠
- p.Ile250Thr Multiple submitters nephrotic syndrome, type 21 ⚠
- c.66+9G>A Single submitter nephrotic syndrome, type 21
- p.Ala120Thr Single submitter ⚠
- p.Ala312Val Single submitter ⚠
- p.Ala33Thr Single submitter ⚠
- p.Ala457Ser Single submitter ⚠
- p.Ala571Thr Single submitter ⚠
- p.Ala671Thr Single submitter ⚠
- p.Ala732Gly Single submitter ⚠
- p.Ala734Thr Single submitter ⚠
- p.Ala734Val Single submitter ⚠
- p.Ala779Thr Single submitter ⚠
- p.Ala802Val Single submitter ⚠
- p.Ala9Ser Single submitter ⚠
- p.Arg105His Single submitter ⚠
- p.Arg135Trp Single submitter ⚠
- p.Arg146Thr Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg199Gln Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg564Gln Single submitter ⚠
- p.Asn144Ile Single submitter nephrotic syndrome, type 21 ⚠
- p.Asn331Ser Single submitter ⚠
- p.Asn36Ser Single submitter ⚠
- p.Asn580Lys Single submitter ⚠
- p.Asn750Lys Single submitter nephrotic syndrome, type 21 ⚠
- p.Asp11His Single submitter ⚠
- p.Asp332Asn Single submitter ⚠
- p.Asp350Gly Single submitter ⚠
- p.Asp391Asn Single submitter ⚠
- p.Asp41Asn Single submitter nephrotic syndrome, type 21 ⚠
- p.Asp464Val Single submitter ⚠
- p.Asp541His Single submitter ⚠
- p.Asp541Tyr Single submitter ⚠
- p.Asp576His Single submitter ⚠
- p.Asp712Gly Single submitter ⚠
- p.Asp84Glu Single submitter ⚠
- p.Asp84His Single submitter ⚠
- p.Cys282Gly Single submitter ⚠
- p.Gln306Glu Single submitter ⚠
- p.Gln306His Single submitter ⚠
- p.Gln444Ter Single submitter nephrotic syndrome, type 21
- p.Glu149Lys Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Glu335Gly Single submitter ⚠
- p.Glu398Lys Single submitter ⚠
- p.Glu411Lys Single submitter ⚠
- p.Glu507Lys Single submitter ⚠
- p.Glu569Gln Single submitter ⚠
- p.Glu632Ala Single submitter ⚠
- p.Glu774Asp Single submitter ⚠
- p.Gly111Ser Single submitter ⚠
- p.Gly117Arg Single submitter ⚠
- p.Gly118Ala Single submitter ⚠
- p.Gly118Arg Single submitter ⚠
- p.Gly289Glu Single submitter ⚠
- p.Gly356Glu Single submitter ⚠
- p.Gly420Arg Single submitter ⚠
- p.Gly498Ser Single submitter ⚠
- p.Gly561Val Single submitter ⚠
- p.Gly577Asp Single submitter ⚠
- p.Gly626Ser Single submitter ⚠
- p.Gly685Ser Single submitter ⚠
- p.Gly730Arg Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile16Phe Single submitter ⚠
- p.Ile250Val Single submitter ⚠
- p.Ile292Leu Single submitter ⚠
- p.Ile316Phe Single submitter ⚠
- p.Ile361Thr Single submitter ⚠
- p.Ile402Thr Single submitter ⚠
- p.Ile402Val Single submitter nephrotic syndrome, type 21 ⚠
- p.Ile59Thr Single submitter ⚠
- p.Ile761Thr Single submitter ⚠
- p.Leu165Pro Single submitter ⚠
- p.Leu185Val Single submitter ⚠
- p.Leu272fs Single submitter nephrotic syndrome, type 21
- p.Leu355Arg Single submitter ⚠
- p.Leu377Pro Single submitter ⚠
- p.Leu427Arg Single submitter ⚠
- p.Leu453Val Single submitter ⚠
- p.Leu612Pro Single submitter ⚠
- p.Leu747Arg Single submitter ⚠
- p.Leu785Phe Single submitter ⚠
- p.Lys245Arg Single submitter ⚠
- p.Lys319Asn Single submitter ⚠
- p.Lys345Asn Single submitter ⚠
- p.Lys363Glu Single submitter ⚠
- p.Lys380Arg Single submitter ⚠
- p.Lys526Arg Single submitter ⚠
- p.Lys568Arg Single submitter ⚠
- p.Lys568Gln Single submitter ⚠
- p.Lys598Arg Single submitter ⚠
- p.Lys668Glu Single submitter ⚠
- p.Lys781Arg Single submitter ⚠
- p.Lys781Met Single submitter ⚠
- p.Met309Thr Single submitter ⚠
- p.Met338Lys Single submitter ⚠
- p.Met389Arg Single submitter ⚠
- p.Met478Thr Single submitter ⚠
- p.Met742Ile Single submitter ⚠
- p.Phe108Ile Single submitter ⚠
- p.Phe108Leu Single submitter ⚠
- p.Phe343Leu Single submitter ⚠
- p.Phe372Ser Single submitter ⚠
- p.Phe496Ser Single submitter ⚠
- p.Phe515Leu Single submitter ⚠
- p.Pro177Arg Single submitter ⚠
- p.Pro482Ser Single submitter nephrotic syndrome, type 21 ⚠
- p.Pro701Thr Single submitter ⚠
- p.Pro805Ser Single submitter ⚠
- p.Pro90Ser Single submitter ⚠
- p.Ser216Asn Single submitter ⚠
- p.Ser231Ala Single submitter ⚠
- p.Ser501Phe Single submitter ⚠
- p.Ser539Thr Single submitter ⚠
- p.Ser670Ile Single submitter ⚠
- p.Ser670Thr Single submitter ⚠
- p.Ser684Gly Single submitter ⚠
- p.Ser792Phe Single submitter ⚠
- p.Thr358Met Single submitter ⚠
- p.Thr429Ala Single submitter nephrotic syndrome, type 21 ⚠
- p.Thr666Met Single submitter ⚠
- p.Thr746Ala Single submitter ⚠
- p.Thr746Ile Single submitter ⚠
- p.Trp414Ter Single submitter nephrotic syndrome, type 21
- p.Trp652Ter Single submitter nephrotic syndrome, type 21
- p.Tyr131Asn Single submitter ⚠
- p.Tyr428His Single submitter ⚠
- p.Tyr441His Single submitter ⚠
- p.Tyr601His Single submitter ⚠
- p.Tyr758Cys Single submitter ⚠
- p.Val133Met Single submitter ⚠
- p.Val139Met Single submitter ⚠
- p.Val162Ala Single submitter ⚠
- p.Val162Ile Single submitter ⚠
- p.Val207Gly Single submitter ⚠
- p.Val294Met Single submitter ⚠
- p.Val330Ile Single submitter ⚠
- p.Val348Ile Single submitter ⚠
- p.Val374Glu Single submitter ⚠
- p.Val408Ile Single submitter ⚠
- p.Val410Met Single submitter ⚠
- p.Val494Leu Single submitter ⚠
- p.Val530Ile Single submitter ⚠
- p.Val614Ile Single submitter ⚠
- p.Val646Met Single submitter ⚠
- p.Glu667Lys No assertion criteria AVIL-related disorder ⚠