ACSBG1 — 110 ClinVar variants
All ClinVar germline ACSBG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
3 Benign · 5 Likely benign · 102 Uncertain significance
Full ACSBG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSBG1 p.Ala195Ser Uncertain significance Single submitter
- ACSBG1 p.Ala200Val Uncertain significance Single submitter
- ACSBG1 p.Ala231Thr Uncertain significance Single submitter
- ACSBG1 p.Ala263Asp Uncertain significance Single submitter
- ACSBG1 p.Ala452Val Uncertain significance Single submitter
- ACSBG1 p.Ala472Glu Uncertain significance Single submitter
- ACSBG1 p.Ala556Thr Uncertain significance Single submitter
- ACSBG1 p.Ala60Gly Uncertain significance Single submitter
- ACSBG1 p.Ala672Val Uncertain significance Single submitter
- ACSBG1 p.Ala80Val Uncertain significance Single submitter
- ACSBG1 p.Arg107Trp Uncertain significance Single submitter
- ACSBG1 p.Arg126Leu Uncertain significance Single submitter
- ACSBG1 p.Arg29Pro Uncertain significance Single submitter
- ACSBG1 p.Arg304Gln Uncertain significance Single submitter
- ACSBG1 p.Arg304Gly Uncertain significance Single submitter
- ACSBG1 p.Arg304Trp Uncertain significance Single submitter
- ACSBG1 p.Arg365Gln Uncertain significance Single submitter
- ACSBG1 p.Arg397Trp Uncertain significance Single submitter
- ACSBG1 p.Arg3Cys Uncertain significance Single submitter
- ACSBG1 p.Arg492Gln Uncertain significance Single submitter
- ACSBG1 p.Arg504Gln Uncertain significance Single submitter
- ACSBG1 p.Arg553His Uncertain significance Single submitter
- ACSBG1 p.Arg91His Uncertain significance Single submitter
- ACSBG1 p.Asn288Asp Uncertain significance Single submitter
- ACSBG1 p.Asp15Asn Uncertain significance Single submitter
- ACSBG1 p.Asp311Glu Uncertain significance Single submitter
- ACSBG1 p.Asp354Asn Uncertain significance Single submitter
- ACSBG1 p.Glu111Lys Uncertain significance Single submitter
- ACSBG1 p.Glu251Lys Uncertain significance Single submitter
- ACSBG1 p.Glu380Lys Uncertain significance Single submitter
- ACSBG1 p.Glu410Val Uncertain significance Single submitter
- ACSBG1 p.Glu513Ala Uncertain significance Single submitter
- ACSBG1 p.Glu686Lys Uncertain significance Single submitter
- ACSBG1 p.Gly306Cys Uncertain significance Single submitter
- ACSBG1 p.Gly306Ser Uncertain significance Single submitter
- ACSBG1 p.Gly310Ser Uncertain significance Single submitter
- ACSBG1 p.Gly497Asp Uncertain significance Single submitter
- ACSBG1 p.Gly502Ser Uncertain significance Single submitter
- ACSBG1 p.Gly693Ser Uncertain significance Single submitter
- ACSBG1 p.His132Gln Uncertain significance Single submitter
- ACSBG1 p.His158Asn Uncertain significance Single submitter
- ACSBG1 p.His228Leu Uncertain significance Single submitter
- ACSBG1 p.His372Tyr Uncertain significance Single submitter
- ACSBG1 p.His547Tyr Uncertain significance Single submitter
- ACSBG1 p.Ile199Val Uncertain significance Single submitter
- ACSBG1 p.Ile234Met Uncertain significance Single submitter
- ACSBG1 p.Ile570Asn Uncertain significance Single submitter
- ACSBG1 p.Ile650Thr Uncertain significance Single submitter
- ACSBG1 p.Ile94Val Uncertain significance Single submitter
- ACSBG1 p.Lys129Asn Uncertain significance Single submitter
- ACSBG1 p.Lys357Gln Uncertain significance Single submitter
- ACSBG1 p.Lys447Thr Uncertain significance Single submitter
- ACSBG1 p.Lys506Arg Uncertain significance Single submitter
- ACSBG1 p.Met609Val Uncertain significance Single submitter
- ACSBG1 p.Met633Thr Uncertain significance Single submitter
- ACSBG1 p.Met670Lys Uncertain significance Single submitter
- ACSBG1 p.Met670Thr Uncertain significance Single submitter
- ACSBG1 p.Pro12Leu Uncertain significance Single submitter
- ACSBG1 p.Pro240Ala Uncertain significance Single submitter
- ACSBG1 p.Pro25Ala Uncertain significance Single submitter
- ACSBG1 p.Pro25Leu Uncertain significance Single submitter
- ACSBG1 p.Ser97Gly Uncertain significance Single submitter
- ACSBG1 p.Thr24Asn Uncertain significance Single submitter
- ACSBG1 p.Thr285Pro Uncertain significance Single submitter
- ACSBG1 p.Thr300Met Uncertain significance Single submitter
- ACSBG1 p.Thr36Ala Uncertain significance Single submitter
- ACSBG1 p.Trp403Cys Uncertain significance Single submitter
- ACSBG1 p.Tyr138His Uncertain significance Single submitter
- ACSBG1 p.Tyr450Cys Uncertain significance Single submitter
- ACSBG1 p.Val184Phe Uncertain significance Single submitter
- ACSBG1 p.Val292Met Uncertain significance Single submitter
- ACSBG1 p.Val389Met Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- ACSBG1 p.Ala333Thr Uncertain significance Single submitter
- ACSBG1 p.Ala656Gly Uncertain significance Single submitter
- ACSBG1 p.Arg143Cys Uncertain significance Single submitter
- ACSBG1 p.Arg304Pro Uncertain significance Single submitter
- ACSBG1 p.Arg365Trp Uncertain significance Single submitter
- ACSBG1 p.Arg385Cys Uncertain significance Single submitter
- ACSBG1 p.Arg553Cys Uncertain significance Single submitter
- ACSBG1 p.Arg666Trp Uncertain significance Single submitter
- ACSBG1 p.Arg675Gln Uncertain significance Single submitter
- ACSBG1 p.Asp541Asn Uncertain significance Single submitter
- ACSBG1 p.Gln680His Uncertain significance Single submitter
- ACSBG1 p.Glu543Gly Uncertain significance Single submitter
- ACSBG1 p.Gly394Val Uncertain significance Single submitter
- ACSBG1 p.Ile600Thr Uncertain significance Single submitter
- ACSBG1 p.Ile715Thr Uncertain significance Single submitter
- ACSBG1 p.Leu470Phe Uncertain significance Single submitter
- ACSBG1 p.Lys357Glu Uncertain significance Single submitter
- ACSBG1 p.Met455Thr Uncertain significance Single submitter
- ACSBG1 p.Phe442Leu Uncertain significance Single submitter
- ACSBG1 p.Pro416Arg Uncertain significance Single submitter
- ACSBG1 p.Pro454Leu Uncertain significance Single submitter
- ACSBG1 p.Thr212Met Uncertain significance Single submitter
- ACSBG1 p.Thr248Met Uncertain significance Single submitter
- ACSBG1 p.Thr363Met Uncertain significance Single submitter
- ACSBG1 p.Thr621Ile Uncertain significance Single submitter
- ACSBG1 p.Thr83Lys Uncertain significance Single submitter
- ACSBG1 p.Trp223Cys Uncertain significance Single submitter
- ACSBG1 p.Val233Met Uncertain significance Single submitter
- ACSBG1 p.Val657Met Uncertain significance Single submitter
All ACSBG1 variants
Benign 3
- p.Asn671= Multiple submitters
- p.Glu542Lys Multiple submitters
- p.Ser692= Multiple submitters
Likely benign 5
- p.Arg313Gln Single submitter
- p.Glu62Lys Single submitter
- p.Gly10Ser Single submitter
- p.Gly14Arg Single submitter
- p.Leu420= Single submitter
Uncertain significance 102
- p.Ala195Ser Single submitter ⚠
- p.Ala200Val Single submitter ⚠
- p.Ala231Thr Single submitter ⚠
- p.Ala263Asp Single submitter ⚠
- p.Ala333Thr Single submitter ⚠
- p.Ala452Val Single submitter ⚠
- p.Ala472Glu Single submitter ⚠
- p.Ala556Thr Single submitter ⚠
- p.Ala60Gly Single submitter ⚠
- p.Ala656Gly Single submitter ⚠
- p.Ala672Val Single submitter ⚠
- p.Ala80Val Single submitter ⚠
- p.Arg107Trp Single submitter ⚠
- p.Arg126Leu Single submitter ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg29Pro Single submitter ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg304Gly Single submitter ⚠
- p.Arg304Pro Single submitter ⚠
- p.Arg304Trp Single submitter ⚠
- p.Arg365Gln Single submitter ⚠
- p.Arg365Trp Single submitter ⚠
- p.Arg385Cys Single submitter ⚠
- p.Arg397Trp Single submitter ⚠
- p.Arg3Cys Single submitter ⚠
- p.Arg492Gln Single submitter ⚠
- p.Arg504Gln Single submitter ⚠
- p.Arg553Cys Single submitter ⚠
- p.Arg553His Single submitter ⚠
- p.Arg666Trp Single submitter ⚠
- p.Arg675Gln Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asn288Asp Single submitter ⚠
- p.Asp15Asn Single submitter ⚠
- p.Asp311Glu Single submitter ⚠
- p.Asp354Asn Single submitter ⚠
- p.Asp541Asn Single submitter ⚠
- p.Gln680His Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu251Lys Single submitter ⚠
- p.Glu380Lys Single submitter ⚠
- p.Glu410Val Single submitter ⚠
- p.Glu513Ala Single submitter ⚠
- p.Glu543Gly Single submitter ⚠
- p.Glu686Lys Single submitter ⚠
- p.Gly306Cys Single submitter ⚠
- p.Gly306Ser Single submitter ⚠
- p.Gly310Ser Single submitter ⚠
- p.Gly394Val Single submitter ⚠
- p.Gly497Asp Single submitter ⚠
- p.Gly502Ser Single submitter ⚠
- p.Gly693Ser Single submitter ⚠
- p.His132Gln Single submitter ⚠
- p.His158Asn Single submitter ⚠
- p.His228Leu Single submitter ⚠
- p.His372Tyr Single submitter ⚠
- p.His547Tyr Single submitter ⚠
- p.Ile199Val Single submitter ⚠
- p.Ile234Met Single submitter ⚠
- p.Ile570Asn Single submitter ⚠
- p.Ile600Thr Single submitter ⚠
- p.Ile650Thr Single submitter ⚠
- p.Ile715Thr Single submitter ⚠
- p.Ile94Val Single submitter ⚠
- p.Leu470Phe Single submitter ⚠
- p.Leu476Phe Single submitter
- p.Lys129Asn Single submitter ⚠
- p.Lys357Gln Single submitter ⚠
- p.Lys357Glu Single submitter ⚠
- p.Lys447Thr Single submitter ⚠
- p.Lys506Arg Single submitter ⚠
- p.Met455Thr Single submitter ⚠
- p.Met609Val Single submitter ⚠
- p.Met633Thr Single submitter ⚠
- p.Met670Lys Single submitter ⚠
- p.Met670Thr Single submitter ⚠
- p.Phe442Leu Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro240Ala Single submitter ⚠
- p.Pro25Ala Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro416Arg Single submitter ⚠
- p.Pro454Leu Single submitter ⚠
- p.Ser97Gly Single submitter ⚠
- p.Thr212Met Single submitter ⚠
- p.Thr248Met Single submitter ⚠
- p.Thr24Asn Single submitter ⚠
- p.Thr285Pro Single submitter ⚠
- p.Thr300Met Single submitter ⚠
- p.Thr363Met Single submitter ⚠
- p.Thr36Ala Single submitter ⚠
- p.Thr621Ile Single submitter ⚠
- p.Thr83Lys Single submitter ⚠
- p.Trp223Cys Single submitter ⚠
- p.Trp403Cys Single submitter ⚠
- p.Tyr138His Single submitter ⚠
- p.Tyr450Cys Single submitter ⚠
- p.Val184Phe Single submitter ⚠
- p.Val233Met Single submitter ⚠
- p.Val292Met Single submitter ⚠
- p.Val389Met Single submitter ⚠
- p.Val657Met Single submitter ⚠