AVEN — 74 ClinVar variants
All ClinVar germline AVEN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
2 Likely benign · 72 Uncertain significance
Full AVEN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AVEN p.Ala278Thr Uncertain significance Single submitter
- AVEN p.Ala278Val Uncertain significance Single submitter
- AVEN p.Ala294Gly Uncertain significance Single submitter
- AVEN p.Arg156Gln Uncertain significance Single submitter
- AVEN p.Arg156Trp Uncertain significance Single submitter
- AVEN p.Arg50Ser Uncertain significance Single submitter
- AVEN p.Arg66Gly Uncertain significance Single submitter
- AVEN p.Asn336Ile Uncertain significance Single submitter
- AVEN p.Asp220Glu Uncertain significance Single submitter
- AVEN p.Asp221Gly Uncertain significance Single submitter
- AVEN p.Asp358His Uncertain significance Single submitter
- AVEN p.Gln172Pro Uncertain significance Single submitter
- AVEN p.Glu27Gln Uncertain significance Single submitter
- AVEN p.Glu318Asp Uncertain significance Single submitter
- AVEN p.Glu323Lys Uncertain significance Single submitter
- AVEN p.Glu340Lys Uncertain significance Single submitter
- AVEN p.Gly47Ala Uncertain significance Single submitter
- AVEN p.Gly49Arg Uncertain significance Single submitter
- AVEN p.Ile296Thr Uncertain significance Single submitter
- AVEN p.Leu187Phe Uncertain significance Single submitter
- AVEN p.Leu225Ser Uncertain significance Single submitter
- AVEN p.Leu290Val Uncertain significance Single submitter
- AVEN p.Leu353Arg Uncertain significance Single submitter
- AVEN p.Leu353Met Uncertain significance Single submitter
- AVEN p.Lys223Asn Uncertain significance Single submitter
- AVEN p.Lys335Gln Uncertain significance Single submitter
- AVEN p.Pro208Leu Uncertain significance Single submitter
- AVEN p.Pro208Ser Uncertain significance Single submitter
- AVEN p.Pro20Ala Uncertain significance Single submitter
- AVEN p.Pro216Arg Uncertain significance Single submitter
- AVEN p.Pro271Leu Uncertain significance Single submitter
- AVEN p.Pro274Ala Uncertain significance Single submitter
- AVEN p.Pro329Thr Uncertain significance Single submitter
- AVEN p.Pro339Ala Uncertain significance Single submitter
- AVEN p.Pro89Leu Uncertain significance Single submitter
- AVEN p.Ser110Ala Uncertain significance Single submitter
- AVEN p.Ser116Cys Uncertain significance Single submitter
- AVEN p.Ser147Pro Uncertain significance Single submitter
- AVEN p.Thr206Lys Uncertain significance Single submitter
- AVEN p.Thr272Ser Uncertain significance Single submitter
- AVEN p.Trp118Cys Uncertain significance Single submitter
- AVEN p.Trp82Cys Uncertain significance Single submitter
- AVEN p.Tyr121His Uncertain significance Single submitter
- AVEN p.Val203Leu Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- AVEN p.Ala33Glu Uncertain significance Single submitter
- AVEN p.Arg195Gln Uncertain significance Single submitter
- AVEN p.Arg55Cys Uncertain significance Single submitter
- AVEN p.Arg5Leu Uncertain significance Single submitter
- AVEN p.Arg66Gln Uncertain significance Single submitter
- AVEN p.Arg8Pro Uncertain significance Single submitter
- AVEN p.Asn197Asp Uncertain significance Single submitter
- AVEN p.Asn291His Uncertain significance Single submitter
- AVEN p.Asp46Tyr Uncertain significance Single submitter
- AVEN p.Glu210Gly Uncertain significance Single submitter
- AVEN p.Glu322Asp Uncertain significance Single submitter
- AVEN p.Gly12Arg Uncertain significance Single submitter
- AVEN p.Gly18Arg Uncertain significance Single submitter
- AVEN p.Gly38Ser Uncertain significance Single submitter
- AVEN p.Gly39Ser Uncertain significance Single submitter
- AVEN p.Gly44Arg Uncertain significance Single submitter
- AVEN p.Gly44Ser Uncertain significance Single submitter
- AVEN p.Gly48Asp Uncertain significance Single submitter
- AVEN p.Gly54Val Uncertain significance Single submitter
- AVEN p.Gly56Ser Uncertain significance Single submitter
- AVEN p.Gly64Glu Uncertain significance Single submitter
- AVEN p.Gly74Ser Uncertain significance Single submitter
- AVEN p.Gly9Glu Uncertain significance Single submitter
- AVEN p.Lys230Met Uncertain significance Single submitter
- AVEN p.Phe155Leu Uncertain significance Single submitter
- AVEN p.Phe176Val Uncertain significance Single submitter
- AVEN p.Ser246Cys Uncertain significance Single submitter
- AVEN p.Thr139Ala Uncertain significance Single submitter
All AVEN variants
Likely benign 2
- p.Arg5= Single submitter
- p.Thr206Ala Single submitter
Uncertain significance 72
- p.Ala278Thr Single submitter ⚠
- p.Ala278Val Single submitter ⚠
- p.Ala294Gly Single submitter ⚠
- p.Ala33Glu Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg156Trp Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg50Ser Single submitter ⚠
- p.Arg55Cys Single submitter ⚠
- p.Arg5Leu Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Arg66Gly Single submitter ⚠
- p.Arg8Pro Single submitter ⚠
- p.Asn197Asp Single submitter ⚠
- p.Asn291His Single submitter ⚠
- p.Asn336Ile Single submitter ⚠
- p.Asp220Glu Single submitter ⚠
- p.Asp221Gly Single submitter ⚠
- p.Asp358His Single submitter ⚠
- p.Asp46Tyr Single submitter ⚠
- p.Gln172Pro Single submitter ⚠
- p.Glu210Gly Single submitter ⚠
- p.Glu27Gln Single submitter ⚠
- p.Glu318Asp Single submitter ⚠
- p.Glu322Asp Single submitter ⚠
- p.Glu323Lys Single submitter ⚠
- p.Glu340Lys Single submitter ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Gly38Ser Single submitter ⚠
- p.Gly39Ser Single submitter ⚠
- p.Gly44Arg Single submitter ⚠
- p.Gly44Ser Single submitter ⚠
- p.Gly47Ala Single submitter ⚠
- p.Gly48Asp Single submitter ⚠
- p.Gly49Arg Single submitter ⚠
- p.Gly54Val Single submitter ⚠
- p.Gly56Ser Single submitter ⚠
- p.Gly64Glu Single submitter ⚠
- p.Gly74Ser Single submitter ⚠
- p.Gly9Glu Single submitter ⚠
- p.Ile296Thr Single submitter ⚠
- p.Leu187Phe Single submitter ⚠
- p.Leu225Ser Single submitter ⚠
- p.Leu290Val Single submitter ⚠
- p.Leu353Arg Single submitter ⚠
- p.Leu353Met Single submitter ⚠
- p.Lys223Asn Single submitter ⚠
- p.Lys230Met Single submitter ⚠
- p.Lys335Gln Single submitter ⚠
- p.Phe155Leu Single submitter ⚠
- p.Phe176Val Single submitter ⚠
- p.Pro208Leu Single submitter ⚠
- p.Pro208Ser Single submitter ⚠
- p.Pro20Ala Single submitter ⚠
- p.Pro216Arg Single submitter ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro274Ala Single submitter ⚠
- p.Pro329Thr Single submitter ⚠
- p.Pro339Ala Single submitter ⚠
- p.Pro89Leu Single submitter ⚠
- p.Ser110Ala Single submitter ⚠
- p.Ser116Cys Single submitter ⚠
- p.Ser147Pro Single submitter ⚠
- p.Ser246Cys Single submitter ⚠
- p.Thr139Ala Single submitter ⚠
- p.Thr206Lys Single submitter ⚠
- p.Thr272Ser Single submitter ⚠
- p.Trp118Cys Single submitter ⚠
- p.Trp82Cys Single submitter ⚠
- p.Tyr121His Single submitter ⚠
- p.Val203Leu Single submitter ⚠