ACSBG2 — 107 ClinVar variants
All ClinVar germline ACSBG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
3 Benign · 8 Likely benign · 96 Uncertain significance
Full ACSBG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSBG2 p.Arg91Gln Uncertain significance Single submitter
- ACSBG2 p.Asp161Glu Uncertain significance Single submitter
- ACSBG2 p.Glu217Lys Uncertain significance Single submitter
- ACSBG2 p.Glu514Gly Uncertain significance Single submitter
- ACSBG2 p.Gly252Glu Uncertain significance Single submitter
- ACSBG2 p.Gly417Arg Uncertain significance Single submitter
- ACSBG2 p.Gly427Glu Uncertain significance Single submitter
- ACSBG2 p.Gly443Val Uncertain significance Single submitter
- ACSBG2 p.His328Tyr Uncertain significance Single submitter
- ACSBG2 p.His663Arg Uncertain significance Single submitter
- ACSBG2 p.Ile287Leu Uncertain significance Single submitter
- ACSBG2 p.Ile352Thr Uncertain significance Single submitter
- ACSBG2 p.Ile414Leu Uncertain significance Single submitter
- ACSBG2 p.Ile53Thr Uncertain significance Single submitter
- ACSBG2 p.Ile540Ser Uncertain significance Single submitter
- ACSBG2 p.Leu446Phe Uncertain significance Single submitter
- ACSBG2 p.Lys359Arg Uncertain significance Single submitter
- ACSBG2 p.Lys605Glu Uncertain significance Single submitter
- ACSBG2 p.Met563Ile Uncertain significance Single submitter
- ACSBG2 p.Phe119Leu Uncertain significance Single submitter
- ACSBG2 p.Ser174Arg Uncertain significance Single submitter
- ACSBG2 p.Ser206Asn Uncertain significance Single submitter
- ACSBG2 p.Ser338Thr Uncertain significance Single submitter
- ACSBG2 p.Ser478Thr Uncertain significance Single submitter
- ACSBG2 p.Trp249Arg Uncertain significance Single submitter
- ACSBG2 p.Trp348Cys Uncertain significance Single submitter
- ACSBG2 p.Val226Ala Uncertain significance Single submitter
- ACSBG2 p.Val23Gly Uncertain significance Single submitter
- ACSBG2 p.Val254Leu Uncertain significance Single submitter
- ACSBG2 p.Val347Met Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
- ACSBG2 p.Pro601Arg Benign Multiple submitters
- ACSBG2 p.Ala180Val Uncertain significance Single submitter
- ACSBG2 p.Ala336Pro Uncertain significance Single submitter
- ACSBG2 p.Ala336Thr Uncertain significance Single submitter
- ACSBG2 p.Ala406Asp Uncertain significance Single submitter
- ACSBG2 p.Ala406Thr Uncertain significance Single submitter
- ACSBG2 p.Ala543Thr Uncertain significance Single submitter
- ACSBG2 p.Ala589Val Uncertain significance Single submitter
- ACSBG2 p.Arg104His Uncertain significance Single submitter
- ACSBG2 p.Arg104Ser Uncertain significance Single submitter
- ACSBG2 p.Arg185Thr Uncertain significance Single submitter
- ACSBG2 p.Arg32Gln Uncertain significance Single submitter
- ACSBG2 p.Arg583Trp Uncertain significance Single submitter
- ACSBG2 p.Asn621Asp Uncertain significance Single submitter
- ACSBG2 p.Asp33Gly Uncertain significance Single submitter
- ACSBG2 p.Asp413His Uncertain significance Single submitter
- ACSBG2 p.Asp600Val Uncertain significance Single submitter
- ACSBG2 p.Asp634Glu Uncertain significance Single submitter
- ACSBG2 p.Cys144Tyr Uncertain significance Single submitter
- ACSBG2 p.Cys449Phe Uncertain significance Single submitter
- ACSBG2 p.Cys561Arg Uncertain significance Single submitter
- ACSBG2 p.Cys561Trp Uncertain significance Single submitter
- ACSBG2 p.Gln608Arg Uncertain significance Single submitter
- ACSBG2 p.Gln608His Uncertain significance Single submitter
- ACSBG2 p.Glu142Lys Uncertain significance Single submitter
- ACSBG2 p.Glu159Lys Uncertain significance Single submitter
- ACSBG2 p.Gly363Arg Uncertain significance Single submitter
- ACSBG2 p.Gly44Arg Uncertain significance Single submitter
- ACSBG2 p.Gly490Ala Uncertain significance Single submitter
- ACSBG2 p.Gly510Ser Uncertain significance Single submitter
- ACSBG2 p.Gly584Cys Uncertain significance Single submitter
- ACSBG2 p.Ile155Thr Uncertain significance Single submitter
- ACSBG2 p.Ile276Thr Uncertain significance Single submitter
- ACSBG2 p.Ile283Phe Uncertain significance Single submitter
- ACSBG2 p.Ile289Thr Uncertain significance Single submitter
- ACSBG2 p.Ile461Met Uncertain significance Single submitter
- ACSBG2 p.Ile527Thr Uncertain significance Single submitter
- ACSBG2 p.Ile625Thr Uncertain significance Single submitter
- ACSBG2 p.Ile661Thr Uncertain significance Single submitter
- ACSBG2 p.Leu127Ile Uncertain significance Single submitter
- ACSBG2 p.Leu131Arg Uncertain significance Single submitter
- ACSBG2 p.Leu260Val Uncertain significance Single submitter
- ACSBG2 p.Leu446Trp Uncertain significance Single submitter
- ACSBG2 p.Leu574Met Uncertain significance Single submitter
- ACSBG2 p.Lys190Asn Uncertain significance Single submitter
- ACSBG2 p.Lys360Glu Uncertain significance Single submitter
- ACSBG2 p.Met544Thr Uncertain significance Single submitter
- ACSBG2 p.Phe354Ser Uncertain significance Single submitter
- ACSBG2 p.Phe394Ser Uncertain significance Single submitter
- ACSBG2 p.Phe64Leu Uncertain significance Single submitter
- ACSBG2 p.Pro368Arg Uncertain significance Single submitter
- ACSBG2 p.Pro50Leu Uncertain significance Single submitter
- ACSBG2 p.Pro525Leu Uncertain significance Single submitter
- ACSBG2 p.Pro526Leu Uncertain significance Single submitter
- ACSBG2 p.Ser206Arg Uncertain significance Single submitter
- ACSBG2 p.Ser426Pro Uncertain significance Single submitter
- ACSBG2 p.Ser432Cys Uncertain significance Single submitter
- ACSBG2 p.Ser432Tyr Uncertain significance Single submitter
- ACSBG2 p.Ser494Cys Uncertain significance Single submitter
- ACSBG2 p.Thr248Met Uncertain significance Single submitter
- ACSBG2 p.Thr29Pro Uncertain significance Single submitter
- ACSBG2 p.Thr30Ile Likely benign Single submitter
- ACSBG2 p.Thr482Ile Uncertain significance Single submitter
- ACSBG2 p.Thr558Met Uncertain significance Single submitter
- ACSBG2 p.Tyr87His Uncertain significance Single submitter
- ACSBG2 p.Val143Leu Uncertain significance Single submitter
- ACSBG2 p.Val285Leu Uncertain significance Single submitter
- ACSBG2 p.Val529Ala Uncertain significance Single submitter
All ACSBG2 variants
Benign 3
- c.907-6A>C Multiple submitters
- p.Ala399= Multiple submitters
- p.Pro601Arg Multiple submitters ⚠
Likely benign 8
- p.Gly3Glu Single submitter
- p.His275= Single submitter
- p.Ile207= Single submitter
- p.Ile540Val Single submitter
- p.Lys597Glu Single submitter
- p.Met645Thr Single submitter
- p.Thr30Ile Single submitter ⚠
- p.Val268= Single submitter
Uncertain significance 96
- p.Ala180Val Single submitter ⚠
- p.Ala336Pro Single submitter ⚠
- p.Ala336Thr Single submitter ⚠
- p.Ala406Asp Single submitter ⚠
- p.Ala406Thr Single submitter ⚠
- p.Ala543Thr Single submitter ⚠
- p.Ala589Val Single submitter ⚠
- p.Arg104His Single submitter ⚠
- p.Arg104Ser Single submitter ⚠
- p.Arg185Thr Single submitter ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg583Trp Single submitter ⚠
- p.Arg91Gln Single submitter ⚠
- p.Asn621Asp Single submitter ⚠
- p.Asp161Glu Single submitter ⚠
- p.Asp33Gly Single submitter ⚠
- p.Asp413His Single submitter ⚠
- p.Asp600Val Single submitter ⚠
- p.Asp634Glu Single submitter ⚠
- p.Cys144Tyr Single submitter ⚠
- p.Cys449Phe Single submitter ⚠
- p.Cys561Arg Single submitter ⚠
- p.Cys561Trp Single submitter ⚠
- p.Gln608Arg Single submitter ⚠
- p.Gln608His Single submitter ⚠
- p.Glu142Lys Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu217Lys Single submitter ⚠
- p.Glu514Gly Single submitter ⚠
- p.Gly252Glu Single submitter ⚠
- p.Gly363Arg Single submitter ⚠
- p.Gly417Arg Single submitter ⚠
- p.Gly427Glu Single submitter ⚠
- p.Gly443Val Single submitter ⚠
- p.Gly44Arg Single submitter ⚠
- p.Gly490Ala Single submitter ⚠
- p.Gly510Ser Single submitter ⚠
- p.Gly584Cys Single submitter ⚠
- p.His328Tyr Single submitter ⚠
- p.His663Arg Single submitter ⚠
- p.Ile155Thr Single submitter ⚠
- p.Ile276Thr Single submitter ⚠
- p.Ile283Phe Single submitter ⚠
- p.Ile287Leu Single submitter ⚠
- p.Ile289Thr Single submitter ⚠
- p.Ile352Thr Single submitter ⚠
- p.Ile414Leu Single submitter ⚠
- p.Ile461Met Single submitter ⚠
- p.Ile527Thr Single submitter ⚠
- p.Ile53Thr Single submitter ⚠
- p.Ile540Ser Single submitter ⚠
- p.Ile625Thr Single submitter ⚠
- p.Ile661Thr Single submitter ⚠
- p.Leu127Ile Single submitter ⚠
- p.Leu131Arg Single submitter ⚠
- p.Leu260Val Single submitter ⚠
- p.Leu446Phe Single submitter ⚠
- p.Leu446Trp Single submitter ⚠
- p.Leu574Met Single submitter ⚠
- p.Lys190Asn Single submitter ⚠
- p.Lys359Arg Single submitter ⚠
- p.Lys360Glu Single submitter ⚠
- p.Lys605Glu Single submitter ⚠
- p.Met544Thr Single submitter ⚠
- p.Met563Ile Single submitter ⚠
- p.Phe119Leu Single submitter ⚠
- p.Phe354Ser Single submitter ⚠
- p.Phe394Ser Single submitter ⚠
- p.Phe64Leu Single submitter ⚠
- p.Pro368Arg Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Pro525Leu Single submitter ⚠
- p.Pro526Leu Single submitter ⚠
- p.Ser174Arg Single submitter ⚠
- p.Ser206Arg Single submitter ⚠
- p.Ser206Asn Single submitter ⚠
- p.Ser338Thr Single submitter ⚠
- p.Ser426Pro Single submitter ⚠
- p.Ser432Cys Single submitter ⚠
- p.Ser432Tyr Single submitter ⚠
- p.Ser478Thr Single submitter ⚠
- p.Ser494Cys Single submitter ⚠
- p.Thr248Met Single submitter ⚠
- p.Thr29Pro Single submitter ⚠
- p.Thr482Ile Single submitter ⚠
- p.Thr558Met Single submitter ⚠
- p.Trp249Arg Single submitter ⚠
- p.Trp348Cys Single submitter ⚠
- p.Tyr87His Single submitter ⚠
- p.Val143Leu Single submitter ⚠
- p.Val226Ala Single submitter ⚠
- p.Val23Gly Single submitter ⚠
- p.Val254Leu Single submitter ⚠
- p.Val285Leu Single submitter ⚠
- p.Val347Met Single submitter ⚠
- p.Val529Ala Single submitter ⚠