ABRAXAS2 — 57 ClinVar variants
All ClinVar germline ABRAXAS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Likely benign · 56 Uncertain significance
Full ABRAXAS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABRAXAS2 p.Ala161Ser Uncertain significance Single submitter
- ABRAXAS2 p.Ala208Thr Uncertain significance Single submitter
- ABRAXAS2 p.Ala208Val Uncertain significance Single submitter
- ABRAXAS2 p.Ala301Ser Uncertain significance Single submitter
- ABRAXAS2 p.Ala72Thr Uncertain significance Single submitter
- ABRAXAS2 p.Arg268Lys Uncertain significance Single submitter
- ABRAXAS2 p.Arg398Gln Uncertain significance Single submitter
- ABRAXAS2 p.Arg87Gln Uncertain significance Single submitter
- ABRAXAS2 p.Arg99Cys Uncertain significance Single submitter
- ABRAXAS2 p.Asn138Ser Uncertain significance Single submitter
- ABRAXAS2 p.Asn214Ser Uncertain significance Single submitter
- ABRAXAS2 p.Asp367Ala Uncertain significance Single submitter
- ABRAXAS2 p.Asp374Glu Uncertain significance Single submitter
- ABRAXAS2 p.Asp406Asn Uncertain significance Single submitter
- ABRAXAS2 p.Gln335Pro Uncertain significance Single submitter
- ABRAXAS2 p.Gly121Ser Uncertain significance Single submitter
- ABRAXAS2 p.Gly348Arg Uncertain significance Single submitter
- ABRAXAS2 p.Gly7Ala Uncertain significance Single submitter
- ABRAXAS2 p.Ile381Phe Uncertain significance Single submitter
- ABRAXAS2 p.Ile5Val Uncertain significance Single submitter
- ABRAXAS2 p.Leu275Val Uncertain significance Single submitter
- ABRAXAS2 p.Leu320Val Uncertain significance Single submitter
- ABRAXAS2 p.Leu380Phe Uncertain significance Single submitter
- ABRAXAS2 p.Leu380Val Uncertain significance Single submitter
- ABRAXAS2 p.Leu51Gln Uncertain significance Single submitter
- ABRAXAS2 p.Lys219Thr Uncertain significance Single submitter
- ABRAXAS2 p.Lys252Arg Uncertain significance Single submitter
- ABRAXAS2 p.Met331Leu Uncertain significance Single submitter
- ABRAXAS2 p.Pro284Leu Uncertain significance Single submitter
- ABRAXAS2 p.Ser280Gly Uncertain significance Single submitter
- ABRAXAS2 p.Ser302Leu Uncertain significance Single submitter
- ABRAXAS2 p.Thr117Ser Uncertain significance Single submitter
- ABRAXAS2 p.Tyr107Phe Uncertain significance Single submitter
- ABRAXAS2 p.Val233Ile Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- ABRAXAS2 p.Ala161Asp Uncertain significance Single submitter
- ABRAXAS2 p.Ala3Val Uncertain significance Single submitter
- ABRAXAS2 p.Arg282Trp Uncertain significance Single submitter
- ABRAXAS2 p.Asn19Ile Uncertain significance Single submitter
- ABRAXAS2 p.Asn21His Uncertain significance Single submitter
- ABRAXAS2 p.Asn47Lys Uncertain significance Single submitter
- ABRAXAS2 p.Asp373Val Uncertain significance Single submitter
- ABRAXAS2 p.Glu240Asp Uncertain significance Single submitter
- ABRAXAS2 p.Glu326Lys Uncertain significance Single submitter
- ABRAXAS2 p.Leu216Val Uncertain significance Single submitter
- ABRAXAS2 p.Met105Leu Uncertain significance Single submitter
- ABRAXAS2 p.Phe10Val Uncertain significance Single submitter
- ABRAXAS2 p.Pro305Ser Uncertain significance Single submitter
- ABRAXAS2 p.Pro307Thr Uncertain significance Single submitter
- ABRAXAS2 p.Ser131Gly Uncertain significance Single submitter
- ABRAXAS2 p.Ser267Thr Uncertain significance Single submitter
- ABRAXAS2 p.Ser372Leu Uncertain significance Single submitter
- ABRAXAS2 p.Thr101Met Uncertain significance Single submitter
- ABRAXAS2 p.Thr9Ile Uncertain significance Single submitter
- ABRAXAS2 p.Val122Met Uncertain significance Single submitter
- ABRAXAS2 p.Val126Ile Uncertain significance Single submitter
- ABRAXAS2 p.Val223Met Uncertain significance Single submitter
All ABRAXAS2 variants
Likely benign 1
- p.Ala278Val Single submitter
Uncertain significance 56
- p.Ala161Asp Single submitter ⚠
- p.Ala161Ser Single submitter ⚠
- p.Ala208Thr Single submitter ⚠
- p.Ala208Val Single submitter ⚠
- p.Ala301Ser Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Arg268Lys Single submitter ⚠
- p.Arg282Trp Single submitter ⚠
- p.Arg398Gln Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Asn138Ser Single submitter ⚠
- p.Asn19Ile Single submitter ⚠
- p.Asn214Ser Single submitter ⚠
- p.Asn21His Single submitter ⚠
- p.Asn47Lys Single submitter ⚠
- p.Asp367Ala Single submitter ⚠
- p.Asp373Val Single submitter ⚠
- p.Asp374Glu Single submitter ⚠
- p.Asp406Asn Single submitter ⚠
- p.Gln335Pro Single submitter ⚠
- p.Glu240Asp Single submitter ⚠
- p.Glu326Lys Single submitter ⚠
- p.Gly121Ser Single submitter ⚠
- p.Gly348Arg Single submitter ⚠
- p.Gly7Ala Single submitter ⚠
- p.Ile381Phe Single submitter ⚠
- p.Ile5Val Single submitter ⚠
- p.Leu216Val Single submitter ⚠
- p.Leu275Val Single submitter ⚠
- p.Leu320Val Single submitter ⚠
- p.Leu380Phe Single submitter ⚠
- p.Leu380Val Single submitter ⚠
- p.Leu51Gln Single submitter ⚠
- p.Lys219Thr Single submitter ⚠
- p.Lys252Arg Single submitter ⚠
- p.Met105Leu Single submitter ⚠
- p.Met331Leu Single submitter ⚠
- p.Phe10Val Single submitter ⚠
- p.Pro284Leu Single submitter ⚠
- p.Pro305Ser Single submitter ⚠
- p.Pro307Thr Single submitter ⚠
- p.Ser131Gly Single submitter ⚠
- p.Ser267Thr Single submitter ⚠
- p.Ser280Gly Single submitter ⚠
- p.Ser302Leu Single submitter ⚠
- p.Ser372Leu Single submitter ⚠
- p.Thr101Met Single submitter ⚠
- p.Thr117Ser Single submitter ⚠
- p.Thr9Ile Single submitter ⚠
- p.Tyr107Phe Single submitter ⚠
- p.Val122Met Single submitter ⚠
- p.Val126Ile Single submitter ⚠
- p.Val223Met Single submitter ⚠
- p.Val233Ile Single submitter ⚠