AVL9 — 82 ClinVar variants
All ClinVar germline AVL9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
4 Likely benign · 78 Uncertain significance
Full AVL9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AVL9 p.Ala510Val Uncertain significance Single submitter
- AVL9 p.Ala558Val Uncertain significance Single submitter
- AVL9 p.Arg105Lys Uncertain significance Single submitter
- AVL9 p.Arg242Gln Uncertain significance Single submitter
- AVL9 p.Arg321Cys Uncertain significance Single submitter
- AVL9 p.Arg482Lys Uncertain significance Single submitter
- AVL9 p.Arg506Gln Uncertain significance Single submitter
- AVL9 p.Arg601Gln Uncertain significance Single submitter
- AVL9 p.Arg601Trp Uncertain significance Single submitter
- AVL9 p.Asn561Asp Uncertain significance Single submitter
- AVL9 p.Asn585Thr Uncertain significance Single submitter
- AVL9 p.Gln354Lys Uncertain significance Single submitter
- AVL9 p.Gln70Leu Uncertain significance Single submitter
- AVL9 p.Glu346Gln Uncertain significance Single submitter
- AVL9 p.Gly165Arg Uncertain significance Single submitter
- AVL9 p.Gly379Ala Uncertain significance Single submitter
- AVL9 p.Gly500Arg Uncertain significance Single submitter
- AVL9 p.Gly85Ala Uncertain significance Single submitter
- AVL9 p.His285Arg Uncertain significance Single submitter
- AVL9 p.Ile505Thr Uncertain significance Single submitter
- AVL9 p.Ile592Val Uncertain significance Single submitter
- AVL9 p.Lys203Glu Uncertain significance Single submitter
- AVL9 p.Lys243Asn Uncertain significance Single submitter
- AVL9 p.Lys360Arg Uncertain significance Single submitter
- AVL9 p.Met625Val Uncertain significance Single submitter
- AVL9 p.Phe187Cys Uncertain significance Single submitter
- AVL9 p.Phe429Leu Uncertain significance Single submitter
- AVL9 p.Pro125Arg Uncertain significance Single submitter
- AVL9 p.Pro12His Uncertain significance Single submitter
- AVL9 p.Pro256Arg Uncertain significance Single submitter
- AVL9 p.Ser254Ile Uncertain significance Single submitter
- AVL9 p.Ser270Leu Uncertain significance Single submitter
- AVL9 p.Thr355Ala Uncertain significance Single submitter
- AVL9 p.Thr425Ala Uncertain significance Single submitter
- AVL9 p.Thr49Asn Uncertain significance Single submitter
- AVL9 p.Val280Leu Uncertain significance Single submitter
- AVL9 p.Val363Gly Uncertain significance Single submitter
- AVL9 p.Val426Ile Uncertain significance Single submitter
- AVL9 p.Val426Leu Uncertain significance Single submitter
- AVL9 p.Val491Ile Uncertain significance Single submitter
- AVL9 p.Val491Phe Uncertain significance Single submitter
- AVL9 p.Val74Met Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- AVL9 p.Arg242Trp Uncertain significance Single submitter
- AVL9 p.Arg427Gln Uncertain significance Single submitter
- AVL9 p.Arg6Ile Uncertain significance Single submitter
- AVL9 p.Asp335Asn Uncertain significance Single submitter
- AVL9 p.Gln417His Uncertain significance Single submitter
- AVL9 p.Glu453Ala Uncertain significance Single submitter
- AVL9 p.Glu499Ala Uncertain significance Single submitter
- AVL9 p.Gly615Ala Uncertain significance Single submitter
- AVL9 p.Gly8Trp Uncertain significance Single submitter
- AVL9 p.His139Arg Uncertain significance Single submitter
- AVL9 p.His418Gln Uncertain significance Single submitter
- AVL9 p.His544Gln Uncertain significance Single submitter
- AVL9 p.Ile592Phe Uncertain significance Single submitter
- AVL9 p.Leu126Val Uncertain significance Single submitter
- AVL9 p.Leu50Ser Uncertain significance Single submitter
- AVL9 p.Lys28Arg Uncertain significance Single submitter
- AVL9 p.Lys527Asn Uncertain significance Single submitter
- AVL9 p.Met160Thr Uncertain significance Single submitter
- AVL9 p.Met413Thr Uncertain significance Single submitter
- AVL9 p.Phe492Leu Uncertain significance Single submitter
- AVL9 p.Phe579Leu Uncertain significance Single submitter
- AVL9 p.Pro15Ala Uncertain significance Single submitter
- AVL9 p.Pro15Ser Uncertain significance Single submitter
- AVL9 p.Pro38Ala Uncertain significance Single submitter
- AVL9 p.Ser326Phe Uncertain significance Single submitter
- AVL9 p.Ser329Cys Uncertain significance Single submitter
- AVL9 p.Ser389Leu Uncertain significance Single submitter
- AVL9 p.Ser530Pro Uncertain significance Single submitter
- AVL9 p.Ser551Arg Uncertain significance Single submitter
- AVL9 p.Ser613Pro Uncertain significance Single submitter
- AVL9 p.Thr378Met Uncertain significance Single submitter
- AVL9 p.Thr520Ile Uncertain significance Single submitter
- AVL9 p.Thr623Ile Uncertain significance Single submitter
- AVL9 p.Thr631Ile Uncertain significance Single submitter
- AVL9 p.Thr641Ile Uncertain significance Single submitter
- AVL9 p.Tyr94Phe Uncertain significance Single submitter
All AVL9 variants
Likely benign 4
- p.Asn310Ser Single submitter
- p.Ile277Val Single submitter
- p.Pro309His Single submitter
- p.Thr641Pro Single submitter
Uncertain significance 78
- p.Ala510Val Single submitter ⚠
- p.Ala558Val Single submitter ⚠
- p.Arg105Lys Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg242Trp Single submitter ⚠
- p.Arg321Cys Single submitter ⚠
- p.Arg427Gln Single submitter ⚠
- p.Arg482Lys Single submitter ⚠
- p.Arg506Gln Single submitter ⚠
- p.Arg601Gln Single submitter ⚠
- p.Arg601Trp Single submitter ⚠
- p.Arg6Ile Single submitter ⚠
- p.Asn561Asp Single submitter ⚠
- p.Asn585Thr Single submitter ⚠
- p.Asp335Asn Single submitter ⚠
- p.Gln354Lys Single submitter ⚠
- p.Gln417His Single submitter ⚠
- p.Gln70Leu Single submitter ⚠
- p.Glu346Gln Single submitter ⚠
- p.Glu453Ala Single submitter ⚠
- p.Glu499Ala Single submitter ⚠
- p.Gly165Arg Single submitter ⚠
- p.Gly379Ala Single submitter ⚠
- p.Gly500Arg Single submitter ⚠
- p.Gly615Ala Single submitter ⚠
- p.Gly85Ala Single submitter ⚠
- p.Gly8Trp Single submitter ⚠
- p.His139Arg Single submitter ⚠
- p.His285Arg Single submitter ⚠
- p.His418Gln Single submitter ⚠
- p.His544Gln Single submitter ⚠
- p.Ile505Thr Single submitter ⚠
- p.Ile592Phe Single submitter ⚠
- p.Ile592Val Single submitter ⚠
- p.Leu126Val Single submitter ⚠
- p.Leu50Ser Single submitter ⚠
- p.Lys203Glu Single submitter ⚠
- p.Lys243Asn Single submitter ⚠
- p.Lys28Arg Single submitter ⚠
- p.Lys360Arg Single submitter ⚠
- p.Lys527Asn Single submitter ⚠
- p.Met160Thr Single submitter ⚠
- p.Met413Thr Single submitter ⚠
- p.Met625Val Single submitter ⚠
- p.Phe187Cys Single submitter ⚠
- p.Phe429Leu Single submitter ⚠
- p.Phe492Leu Single submitter ⚠
- p.Phe579Leu Single submitter ⚠
- p.Pro125Arg Single submitter ⚠
- p.Pro12His Single submitter ⚠
- p.Pro15Ala Single submitter ⚠
- p.Pro15Ser Single submitter ⚠
- p.Pro256Arg Single submitter ⚠
- p.Pro38Ala Single submitter ⚠
- p.Ser254Ile Single submitter ⚠
- p.Ser270Leu Single submitter ⚠
- p.Ser326Phe Single submitter ⚠
- p.Ser329Cys Single submitter ⚠
- p.Ser389Leu Single submitter ⚠
- p.Ser530Pro Single submitter ⚠
- p.Ser551Arg Single submitter ⚠
- p.Ser613Pro Single submitter ⚠
- p.Thr355Ala Single submitter ⚠
- p.Thr378Met Single submitter ⚠
- p.Thr425Ala Single submitter ⚠
- p.Thr49Asn Single submitter ⚠
- p.Thr520Ile Single submitter ⚠
- p.Thr623Ile Single submitter ⚠
- p.Thr631Ile Single submitter ⚠
- p.Thr641Ile Single submitter ⚠
- p.Tyr94Phe Single submitter ⚠
- p.Val280Leu Single submitter ⚠
- p.Val363Gly Single submitter ⚠
- p.Val426Ile Single submitter ⚠
- p.Val426Leu Single submitter ⚠
- p.Val491Ile Single submitter ⚠
- p.Val491Phe Single submitter ⚠
- p.Val74Met Single submitter ⚠