ASB10 — 177 ClinVar variants
All ClinVar germline ASB10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
4 Conflicting · 39 Benign · 6 Benign/Likely benign · 28 Likely benign · 100 Uncertain significance
Full ASB10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASB10 p.Pro31Thr Uncertain significance Multiple submitters
- ASB10 p.Ala151Thr Uncertain significance Single submitter
- ASB10 p.Ala205Glu Uncertain significance Single submitter
- ASB10 p.Ala290Val Uncertain significance Single submitter
- ASB10 p.Ala396Thr Uncertain significance Single submitter
- ASB10 p.Ala417Thr Uncertain significance Single submitter
- ASB10 p.Arg237Pro Uncertain significance Single submitter
- ASB10 p.Arg244Leu Uncertain significance Single submitter
- ASB10 p.Arg304His Uncertain significance Single submitter
- ASB10 p.Arg49Pro Uncertain significance Single submitter
- ASB10 p.Asp97Glu Uncertain significance Single submitter
- ASB10 p.Gln336His Uncertain significance Single submitter
- ASB10 p.Glu15Lys Uncertain significance Single submitter
- ASB10 p.Glu212Lys Uncertain significance Single submitter
- ASB10 p.Glu381Lys Uncertain significance Single submitter
- ASB10 p.Gly148Asp Uncertain significance Single submitter
- ASB10 p.Gly305Asp Uncertain significance Single submitter
- ASB10 p.Gly34Arg Uncertain significance Single submitter
- ASB10 p.Gly44Glu Uncertain significance Single submitter
- ASB10 p.Gly53Glu Uncertain significance Single submitter
- ASB10 p.His332Pro Uncertain significance Single submitter
- ASB10 p.His348Asn Uncertain significance Single submitter
- ASB10 p.Ile102Val Uncertain significance Single submitter
- ASB10 p.Ile380Met Uncertain significance Single submitter
- ASB10 p.Ile380Phe Uncertain significance Single submitter
- ASB10 p.Leu136Arg Uncertain significance Single submitter
- ASB10 p.Leu234Pro Uncertain significance Single submitter
- ASB10 p.Leu276Met Uncertain significance Single submitter
- ASB10 p.Leu366Phe Uncertain significance Single submitter
- ASB10 p.Met3Val Uncertain significance Single submitter
- ASB10 p.Pro422His Uncertain significance Single submitter
- ASB10 p.Ser109Phe Uncertain significance Single submitter
- ASB10 p.Ser4Thr Uncertain significance Single submitter
- ASB10 p.Ser78Arg Uncertain significance Single submitter
- ASB10 p.Thr118Ser Uncertain significance Single submitter
- ASB10 p.Thr48Ser Uncertain significance Single submitter
- ASB10 p.Trp5Cys Uncertain significance Single submitter
- ASB10 p.Tyr467Asn Uncertain significance Single submitter
- ASB10 p.Val169Met Uncertain significance Single submitter
- ASB10 p.Val349Ala Uncertain significance Single submitter
- ASB10 p.Val86Ala Uncertain significance Single submitter
Predictors split 76
The independent predictors disagree with each other — read with care.
- ASB10 p.Ala157Val Benign Multiple submitters
- ASB10 p.Arg138Trp Uncertain significance Multiple submitters
- ASB10 p.Arg189Trp Likely benign Multiple submitters
-
ASB10 p.Arg237Gly
Benign/Likely benign
Multiple submitters
Glaucoma 1, open angle, F
- ASB10 p.Arg304Cys Benign Multiple submitters
- ASB10 p.Arg372Cys Benign Multiple submitters
- ASB10 p.Arg434Cys Uncertain significance Multiple submitters
- ASB10 p.Arg453Cys Benign Multiple submitters
- ASB10 p.Arg72His Likely benign Multiple submitters
- ASB10 p.Phe416Leu Uncertain significance Multiple submitters
- ASB10 p.Pro346Ser Uncertain significance Multiple submitters
- ASB10 p.Pro402Thr Benign Multiple submitters
- ASB10 p.Pro422Arg Uncertain significance Multiple submitters
- ASB10 p.Pro451Leu Uncertain significance Multiple submitters
- ASB10 p.Val207Leu Benign/Likely benign Multiple submitters
- ASB10 p.Val359Ile Benign Multiple submitters
- ASB10 p.Ala172Gly Uncertain significance Single submitter
- ASB10 p.Ala172Thr Uncertain significance Single submitter
- ASB10 p.Ala177Thr Uncertain significance Single submitter
- ASB10 p.Ala205Val Uncertain significance Single submitter
- ASB10 p.Ala246Asp Uncertain significance Single submitter
- ASB10 p.Ala246Thr Uncertain significance Single submitter
- ASB10 p.Ala271Asp Uncertain significance Single submitter
- ASB10 p.Ala287Thr Uncertain significance Single submitter
- ASB10 p.Ala343Asp Uncertain significance Single submitter
- ASB10 p.Ala358Thr Uncertain significance Single submitter
- ASB10 p.Ala365Asp Uncertain significance Single submitter
- ASB10 p.Ala75Val Uncertain significance Single submitter
- ASB10 p.Arg103Cys Uncertain significance Single submitter
- ASB10 p.Arg149His Uncertain significance Single submitter
- ASB10 p.Arg183His Uncertain significance Single submitter
- ASB10 p.Arg210Gln Uncertain significance Single submitter
- ASB10 p.Arg224Gln Uncertain significance Single submitter
- ASB10 p.Arg237Gln Uncertain significance Single submitter
- ASB10 p.Arg244His Benign Single submitter
- ASB10 p.Arg303Cys Uncertain significance Single submitter
- ASB10 p.Arg360Cys Benign Single submitter
- ASB10 p.Arg378Trp Benign Single submitter
- ASB10 p.Arg453His Uncertain significance Single submitter
- ASB10 p.Arg72Cys Uncertain significance Single submitter
- ASB10 p.Asp173Asn Uncertain significance Single submitter
- ASB10 p.Asp286Asn Uncertain significance Single submitter
- ASB10 p.Asp291Gly Uncertain significance Single submitter
- ASB10 p.Asp91Tyr Uncertain significance Single submitter
- ASB10 p.Cys163Ser Uncertain significance Single submitter
- ASB10 p.Glu154Lys Uncertain significance Single submitter
- ASB10 p.Glu267Lys Uncertain significance Single submitter
- ASB10 p.Gly171Arg Uncertain significance Single submitter
- ASB10 p.Gly171Glu Uncertain significance Single submitter
- ASB10 p.Gly192Ser Uncertain significance Single submitter
- ASB10 p.Gly226Ser Uncertain significance Single submitter
- ASB10 p.Gly364Val Uncertain significance Single submitter
- ASB10 p.Gly80Val Uncertain significance Single submitter
- ASB10 p.His160Tyr Uncertain significance Single submitter
- ASB10 p.His299Tyr Uncertain significance Single submitter
- ASB10 p.His436Asn Conflicting Single submitter
- ASB10 p.Leu455Ile Uncertain significance Single submitter
- ASB10 p.Leu74Phe Uncertain significance Single submitter
- ASB10 p.Lys182Asn Uncertain significance Single submitter
- ASB10 p.Pro191Thr Conflicting Single submitter
- ASB10 p.Pro330Ser Uncertain significance Single submitter
- ASB10 p.Pro367Ser Uncertain significance Single submitter
- ASB10 p.Pro446Leu Likely benign Single submitter
- ASB10 p.Ser262Phe Uncertain significance Single submitter
- ASB10 p.Ser435Phe Uncertain significance Single submitter
- ASB10 p.Ser440Ile Uncertain significance Single submitter
- ASB10 p.Thr117Asn Uncertain significance Single submitter
- ASB10 p.Thr193Ile Uncertain significance Single submitter
- ASB10 p.Thr329Met Likely benign Single submitter
- ASB10 p.Val122Met Uncertain significance Single submitter
- ASB10 p.Val310Met Conflicting Single submitter
- ASB10 p.Val318Ile Uncertain significance Single submitter
- ASB10 p.Val390Met Likely benign Single submitter
- ASB10 p.Val397Ile Uncertain significance Single submitter
- ASB10 p.Val86Ile Uncertain significance Single submitter
- ASB10 p.Phe462Leu Uncertain significance No assertion criteria
All ASB10 variants
Conflicting classifications of pathogenicity 4
- p.Arg133Gln Single submitter ⚠
- p.His436Asn Single submitter ⚠
- p.Pro191Thr Single submitter ⚠
- p.Val310Met Single submitter ⚠
Benign 39
- c.1104+144C>T Multiple submitters
- c.1104+220A>G Multiple submitters
- c.1218+42T>C Multiple submitters
- c.316+10G>A Multiple submitters
- c.317-15G>A Multiple submitters
- c.317-75C>T Multiple submitters
- c.585-4A>G Multiple submitters
- c.-67CT[10] Multiple submitters
- c.*8T>C Multiple submitters
- p.Ala157Val Multiple submitters ⚠
- p.Ala266= Multiple submitters
- p.Ala290= Multiple submitters
- p.Arg304Cys Multiple submitters ⚠
- p.Arg372Cys Multiple submitters ⚠
- p.Arg453Cys Multiple submitters ⚠
- p.Leu107= Multiple submitters
- p.Leu342= Multiple submitters
- p.Pro19Arg Multiple submitters
- p.Pro402Thr Multiple submitters ⚠
- p.Val359Ile Multiple submitters ⚠
- c.1104+252T>C Single submitter
- c.316+7G>A Single submitter
- c.584+192G>A Single submitter
- c.584+253C>T Single submitter
- c.584+258T>C Single submitter
- c.585-157del Single submitter
- c.585-258C>T Single submitter
- c.585-300A>C Single submitter
- c.585-315G>A Single submitter
- c.-67CT[8] Single submitter
- p.Ala172= Single submitter
- p.Ala246= Single submitter
- p.Arg244His Single submitter ⚠
- p.Arg360Cys Single submitter ⚠
- p.Arg378Trp Single submitter ⚠
- p.Cys196= Single submitter
- p.Glu229Asp Single submitter
- p.Gly238= Single submitter
- p.Pro43= Single submitter
Benign/Likely benign 6
- p.Ala75Glu Multiple submitters
- p.Arg237Gly Multiple submitters Glaucoma 1, open angle, F ⚠
- p.Ser424= Multiple submitters
- p.Thr150= Multiple submitters
- p.Val131Ala Multiple submitters
- p.Val207Leu Multiple submitters ⚠
Likely benign 28
- c.1218+84G>A Multiple submitters
- p.Arg189Trp Multiple submitters ⚠
- p.Arg72His Multiple submitters ⚠
- c.1218+26G>C Single submitter
- c.317-10C>G Single submitter
- c.585-158_585-157del Single submitter
- p.Ala289= Single submitter
- p.Ala343= Single submitter
- p.Arg296Ter Single submitter
- p.Arg94Gln Single submitter
- p.Asn385= Single submitter
- p.Gln51Leu Single submitter Glaucoma 1, open angle, F
- p.Glu9Asp Single submitter
- p.His21= Single submitter
- p.Leu74= Single submitter
- p.Phe58Ser Single submitter
- p.Pro19Ser Single submitter
- p.Pro346= Single submitter
- p.Pro43Leu Single submitter
- p.Pro446Leu Single submitter ⚠
- p.Ser109= Single submitter
- p.Thr322= Single submitter
- p.Thr329Met Single submitter ⚠
- p.Val258Ile Single submitter
- p.Val390Met Single submitter ⚠
- p.Arg84Cys No assertion criteria ASB10-related disorder
- p.Leu399= No assertion criteria ASB10-related disorder
- p.Val309= No assertion criteria ASB10-related disorder
Uncertain significance 100
- p.Arg138Trp Multiple submitters ⚠
- p.Arg434Cys Multiple submitters ⚠
- p.Phe416Leu Multiple submitters ⚠
- p.Pro31Thr Multiple submitters ⚠
- p.Pro346Ser Multiple submitters ⚠
- p.Pro422Arg Multiple submitters ⚠
- p.Pro451Leu Multiple submitters ⚠
- p.Ala151Thr Single submitter ⚠
- p.Ala172Gly Single submitter ⚠
- p.Ala172Thr Single submitter ⚠
- p.Ala177Thr Single submitter ⚠
- p.Ala205Glu Single submitter ⚠
- p.Ala205Val Single submitter ⚠
- p.Ala246Asp Single submitter ⚠
- p.Ala246Thr Single submitter ⚠
- p.Ala271Asp Single submitter ⚠
- p.Ala287Thr Single submitter ⚠
- p.Ala290Val Single submitter ⚠
- p.Ala343Asp Single submitter ⚠
- p.Ala358Thr Single submitter ⚠
- p.Ala365Asp Single submitter ⚠
- p.Ala396Thr Single submitter ⚠
- p.Ala417Thr Single submitter ⚠
- p.Ala75Val Single submitter ⚠
- p.Arg103Cys Single submitter ⚠
- p.Arg149His Single submitter ⚠
- p.Arg183His Single submitter ⚠
- p.Arg210Gln Single submitter ⚠
- p.Arg224Gln Single submitter ⚠
- p.Arg237Gln Single submitter ⚠
- p.Arg237Pro Single submitter ⚠
- p.Arg244Leu Single submitter ⚠
- p.Arg303Cys Single submitter ⚠
- p.Arg304His Single submitter ⚠
- p.Arg453His Single submitter ⚠
- p.Arg49Pro Single submitter ⚠
- p.Arg72Cys Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp286Asn Single submitter ⚠
- p.Asp291Gly Single submitter ⚠
- p.Asp91Tyr Single submitter ⚠
- p.Asp97Glu Single submitter ⚠
- p.Cys163Ser Single submitter ⚠
- p.Gln336His Single submitter ⚠
- p.Glu154Lys Single submitter ⚠
- p.Glu15Lys Single submitter ⚠
- p.Glu212Lys Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu381Lys Single submitter ⚠
- p.Gly148Asp Single submitter ⚠
- p.Gly171Arg Single submitter ⚠
- p.Gly171Glu Single submitter ⚠
- p.Gly192Ser Single submitter ⚠
- p.Gly226Ser Single submitter ⚠
- p.Gly305Asp Single submitter ⚠
- p.Gly34Arg Single submitter ⚠
- p.Gly364Val Single submitter ⚠
- p.Gly44Glu Single submitter ⚠
- p.Gly53Glu Single submitter ⚠
- p.Gly80Val Single submitter ⚠
- p.His160Tyr Single submitter ⚠
- p.His299Tyr Single submitter ⚠
- p.His332Pro Single submitter ⚠
- p.His348Asn Single submitter ⚠
- p.Ile102Val Single submitter ⚠
- p.Ile380Met Single submitter ⚠
- p.Ile380Phe Single submitter ⚠
- p.Leu136Arg Single submitter ⚠
- p.Leu234Pro Single submitter ⚠
- p.Leu276Met Single submitter ⚠
- p.Leu366Phe Single submitter ⚠
- p.Leu455Ile Single submitter ⚠
- p.Leu74Phe Single submitter ⚠
- p.Lys182Asn Single submitter ⚠
- p.Met3Val Single submitter ⚠
- p.Pro191fs Single submitter
- p.Pro330Ser Single submitter ⚠
- p.Pro367Ser Single submitter ⚠
- p.Pro422His Single submitter ⚠
- p.Ser109Phe Single submitter ⚠
- p.Ser262Phe Single submitter ⚠
- p.Ser435Phe Single submitter ⚠
- p.Ser440Ile Single submitter ⚠
- p.Ser4Thr Single submitter ⚠
- p.Ser78Arg Single submitter ⚠
- p.Thr117Asn Single submitter ⚠
- p.Thr118Ser Single submitter ⚠
- p.Thr193Ile Single submitter ⚠
- p.Thr48Ser Single submitter ⚠
- p.Trp5Cys Single submitter ⚠
- p.Tyr467Asn Single submitter ⚠
- p.Val122Met Single submitter ⚠
- p.Val169Met Single submitter ⚠
- p.Val318Ile Single submitter ⚠
- p.Val349Ala Single submitter ⚠
- p.Val389fs Single submitter
- p.Val397Ile Single submitter ⚠
- p.Val86Ala Single submitter ⚠
- p.Val86Ile Single submitter ⚠
- p.Phe462Leu No assertion criteria ⚠