ABCD3 — 213 ClinVar variants
All ClinVar germline ABCD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
1 Pathogenic · 1 Conflicting · 22 Benign · 1 Benign/Likely benign · 71 Likely benign · 117 Uncertain significance
Full ABCD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCD3 p.Ala131Thr Uncertain significance Multiple submitters
- ABCD3 p.Ala3Val Uncertain significance Multiple submitters
-
ABCD3 p.Ile225Val
Uncertain significance
Multiple submitters
ABCD3-related disorder
- ABCD3 p.Leu45Val Uncertain significance Multiple submitters
- ABCD3 p.Pro425Ser Uncertain significance Multiple submitters
- ABCD3 p.Val238Ile Uncertain significance Multiple submitters
- ABCD3 p.Val423Asp Uncertain significance Multiple submitters
- ABCD3 p.Ala580Val Uncertain significance Single submitter
- ABCD3 p.Arg117Cys Uncertain significance Single submitter
- ABCD3 p.Arg271Gln Uncertain significance Single submitter
- ABCD3 p.Arg271Trp Uncertain significance Single submitter
- ABCD3 p.Arg297Gln Uncertain significance Single submitter
- ABCD3 p.Arg379His Uncertain significance Single submitter
- ABCD3 p.Arg390Gln Uncertain significance Single submitter
- ABCD3 p.Arg408Cys Uncertain significance Single submitter
- ABCD3 p.Arg66Thr Uncertain significance Single submitter
- ABCD3 p.Asn48Lys Uncertain significance Single submitter
- ABCD3 p.Asn48Ser Uncertain significance Single submitter
- ABCD3 p.Cys477Ser Uncertain significance Single submitter
- ABCD3 p.Gln105Arg Uncertain significance Single submitter
- ABCD3 p.Gln414Arg Uncertain significance Single submitter
- ABCD3 p.Gln422Glu Uncertain significance Single submitter
- ABCD3 p.Gln422Pro Uncertain significance Single submitter
- ABCD3 p.Glu419Lys Uncertain significance Single submitter
- ABCD3 p.Gly386Ser Uncertain significance Single submitter
- ABCD3 p.Gly552Ser Uncertain significance Single submitter
- ABCD3 p.His27Leu Uncertain significance Single submitter
- ABCD3 p.His293Arg Uncertain significance Single submitter
- ABCD3 p.His350Leu Uncertain significance Single submitter
- ABCD3 p.His625Asn Uncertain significance Single submitter
- ABCD3 p.His632Tyr Uncertain significance Single submitter
- ABCD3 p.Ile110Ser Uncertain significance Single submitter
- ABCD3 p.Ile251Val Uncertain significance Single submitter
- ABCD3 p.Ile319Leu Uncertain significance Single submitter
- ABCD3 p.Ile418Val Uncertain significance Single submitter
- ABCD3 p.Ile427Leu Uncertain significance Single submitter
- ABCD3 p.Ile434Val Uncertain significance Single submitter
- ABCD3 p.Leu15Val Uncertain significance Single submitter
- ABCD3 p.Leu33Phe Uncertain significance Single submitter
- ABCD3 p.Leu486Phe Uncertain significance Single submitter
- ABCD3 p.Lys405Arg Uncertain significance Single submitter
- ABCD3 p.Lys543Gln Uncertain significance Single submitter
- ABCD3 p.Met254Ile Uncertain significance Single submitter
- ABCD3 p.Met367Leu Uncertain significance Single submitter
- ABCD3 p.Met639Ile Uncertain significance Single submitter
- ABCD3 p.Phe387Leu Uncertain significance Single submitter
- ABCD3 p.Phe461Tyr Uncertain significance Single submitter
- ABCD3 p.Pro185Leu Uncertain significance Single submitter
- ABCD3 p.Pro43Ala Uncertain significance Single submitter
- ABCD3 p.Pro450Thr Uncertain significance Single submitter
- ABCD3 p.Thr190Arg Uncertain significance Single submitter
- ABCD3 p.Thr409Ile Uncertain significance Single submitter
- ABCD3 p.Thr449Met Uncertain significance Single submitter
- ABCD3 p.Thr598Arg Uncertain significance Single submitter
- ABCD3 p.Thr78Ala Uncertain significance Single submitter
- ABCD3 p.Trp490Arg Uncertain significance Single submitter
- ABCD3 p.Tyr236Cys Uncertain significance Single submitter
- ABCD3 p.Val139Gly Uncertain significance Single submitter
- ABCD3 p.Val605Met Uncertain significance Single submitter
- ABCD3 p.Val616Ile Uncertain significance Single submitter
- ABCD3 p.Gly17Asp Uncertain significance No assertion criteria
Predictors split 43
The independent predictors disagree with each other — read with care.
- ABCD3 p.Arg496Cys Uncertain significance Multiple submitters
- ABCD3 p.Asn12Tyr Uncertain significance Multiple submitters
- ABCD3 p.Leu23Val Uncertain significance Multiple submitters
- ABCD3 p.Pro425Leu Uncertain significance Multiple submitters
- ABCD3 p.Val564Ala Uncertain significance Multiple submitters
- ABCD3 p.Ala231Val Uncertain significance Single submitter
- ABCD3 p.Ala235Ser Uncertain significance Single submitter
- ABCD3 p.Ala235Val Uncertain significance Single submitter
- ABCD3 p.Arg124Gly Uncertain significance Single submitter
- ABCD3 p.Arg157Lys Uncertain significance Single submitter
- ABCD3 p.Arg335His Uncertain significance Single submitter
- ABCD3 p.Arg344Gln Uncertain significance Single submitter
- ABCD3 p.Asn198Tyr Uncertain significance Single submitter
- ABCD3 p.Asn402Ser Uncertain significance Single submitter
- ABCD3 p.Asp547Gly Uncertain significance Single submitter
- ABCD3 p.Gly84Ser Uncertain significance Single submitter
- ABCD3 p.His612Arg Uncertain significance Single submitter
- ABCD3 p.Ile130Phe Uncertain significance Single submitter
- ABCD3 p.Ile136Val Uncertain significance Single submitter
- ABCD3 p.Ile524Met Uncertain significance Single submitter
- ABCD3 p.Leu303Ile Uncertain significance Single submitter
- ABCD3 p.Leu426Val Uncertain significance Single submitter
- ABCD3 p.Leu88Phe Uncertain significance Single submitter
- ABCD3 p.Lys53Arg Uncertain significance Single submitter
- ABCD3 p.Lys53Glu Uncertain significance Single submitter
- ABCD3 p.Lys54Arg Uncertain significance Single submitter
- ABCD3 p.Lys61Met Uncertain significance Single submitter
- ABCD3 p.Met313Leu Uncertain significance Single submitter
- ABCD3 p.Met313Val Uncertain significance Single submitter
- ABCD3 p.Met639Val Uncertain significance Single submitter
- ABCD3 p.Met74Thr Uncertain significance Single submitter
- ABCD3 p.Met74Val Uncertain significance Single submitter
- ABCD3 p.Pro343His Uncertain significance Single submitter
- ABCD3 p.Thr388Ser Uncertain significance Single submitter
- ABCD3 p.Tyr636Cys Uncertain significance Single submitter
- ABCD3 p.Tyr98Cys Uncertain significance Single submitter
- ABCD3 p.Val156Ala Uncertain significance Single submitter
- ABCD3 p.Val193Ala Uncertain significance Single submitter
- ABCD3 p.Val200Ile Uncertain significance Single submitter
- ABCD3 p.Val397Ile Uncertain significance Single submitter
- ABCD3 p.Val570Ile Uncertain significance Single submitter
- ABCD3 p.Val91Ile Uncertain significance Single submitter
- ABCD3 p.Val94Met Uncertain significance Single submitter
All ABCD3 variants
Pathogenic 1
- c.1903-573_*1108del No assertion criteria congenital bile acid synthesis defect 5
Conflicting classifications of pathogenicity 1
- p.Gly41Glu Single submitter ⚠
Benign 22
- c.1846-31C>G Multiple submitters congenital bile acid synthesis defect 5
- c.246+11T>C Multiple submitters
- p.Gly452= Multiple submitters
- p.Gly52Val Multiple submitters congenital bile acid synthesis defect 5
- p.Lys54= Multiple submitters congenital bile acid synthesis defect 5
- c.111-12T>A Single submitter
- c.111-15T>C Single submitter
- c.1249+7_1249+8del Single submitter
- c.1387-4del Single submitter
- c.1387-4dup Single submitter
- c.148-8dup Single submitter
- c.1530+12del Single submitter
- c.1741-15T>C Single submitter
- c.1845+9G>A Single submitter
- c.1903-19T>C Single submitter
- c.247-20C>G Single submitter
- c.685-9T>C Single submitter
- c.968-7G>A Single submitter
- p.Asn283= Single submitter
- p.Ile319= Single submitter
- p.Pro185= Single submitter
- c.1158-23G>C No assertion criteria
Benign/Likely benign 1
- p.Asp458= Multiple submitters
Likely benign 71
- p.Gly643= Multiple submitters
- c.1065+19A>G Single submitter
- c.1065+7T>G Single submitter
- c.1066-20A>T Single submitter
- c.110+20T>C Single submitter
- c.111-12T>C Single submitter
- c.111-18T>C Single submitter
- c.1250-4T>C Single submitter
- c.1250-7A>G Single submitter
- c.1323-17A>T Single submitter
- c.1387-19del Single submitter
- c.1387-4T>C Single submitter
- c.1464+10A>G Single submitter
- c.1465-17T>C Single submitter
- c.1465-7T>C Single submitter
- c.147+19T>A Single submitter
- c.148-7A>T Single submitter
- c.1531-13C>T Single submitter
- c.1531-5G>A Single submitter
- c.1531-7C>T Single submitter
- c.1620+16T>C Single submitter
- c.1621-17A>T Single submitter
- c.1741-12T>C Single submitter
- c.1741-17T>C Single submitter
- c.1845+15G>A Single submitter
- c.1845+20G>C Single submitter
- c.1845+8C>G Single submitter
- c.1845+8C>T Single submitter
- c.1846-5A>G Single submitter
- c.1902+10T>C Single submitter
- c.247-18A>G Single submitter
- c.336-11G>A Single submitter
- c.336-16A>G Single submitter
- c.406-19A>G Single submitter
- c.627+18T>G Single submitter
- c.628-9_628-6del Single submitter
- c.684+228G>A Single submitter congenital bile acid synthesis defect 5
- c.684+9G>C Single submitter
- c.827+12T>A Single submitter
- c.828-20T>C Single submitter
- p.Ala18= Single submitter
- p.Ala224= Single submitter
- p.Ala231= Single submitter
- p.Ala3= Single submitter
- p.Arg31= Single submitter
- p.Arg464= Single submitter
- p.Arg464Gln Single submitter
- p.Arg56= Single submitter
- p.Asn460= Single submitter
- p.Asp566= Single submitter
- p.Asp569= Single submitter
- p.Gln396= Single submitter
- p.Glu165= Single submitter
- p.Glu544= Single submitter
- p.Gly146= Single submitter
- p.Gly329= Single submitter
- p.Gly552= Single submitter
- p.Ile110= Single submitter
- p.Leu127= Single submitter
- p.Leu188= Single submitter
- p.Leu33= Single submitter
- p.Leu88= Single submitter
- p.Phe122= Single submitter
- p.Phe64= Single submitter
- p.Ser14= Single submitter
- p.Ser351= Single submitter
- p.Thr449= Single submitter
- p.Tyr267= Single submitter
- p.Val201= Single submitter
- p.Val75= Single submitter
- c.1903-4A>G No assertion criteria ABCD3-related disorder
Uncertain significance 117
- p.Ala131Thr Multiple submitters ⚠
- p.Ala3Val Multiple submitters ⚠
- p.Arg496Cys Multiple submitters ⚠
- p.Asn12Tyr Multiple submitters ⚠
- p.Ile225Val Multiple submitters ABCD3-related disorder ⚠
- p.Leu23Val Multiple submitters ⚠
- p.Leu45Val Multiple submitters ⚠
- p.Pro425Leu Multiple submitters ⚠
- p.Pro425Ser Multiple submitters ⚠
- p.Val238Ile Multiple submitters ⚠
- p.Val423Asp Multiple submitters ⚠
- p.Val564Ala Multiple submitters ⚠
- c.1065+12A>G Single submitter
- c.1322+4C>T Single submitter
- c.1620+4A>G Single submitter
- c.246+5G>A Single submitter
- c.684+3G>C Single submitter
- c.897+1G>A Single submitter
- p.Ala231Val Single submitter ⚠
- p.Ala235Ser Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Ala580Val Single submitter ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg124Gly Single submitter ⚠
- p.Arg155Ter Single submitter
- p.Arg157Lys Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg271Trp Single submitter ⚠
- p.Arg297Gln Single submitter ⚠
- p.Arg335His Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg344Ter Single submitter
- p.Arg379His Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg408Cys Single submitter ⚠
- p.Arg457Ter Single submitter
- p.Arg66Thr Single submitter ⚠
- p.Asn198Tyr Single submitter ⚠
- p.Asn402Ser Single submitter ⚠
- p.Asn48Lys Single submitter ⚠
- p.Asn48Ser Single submitter ⚠
- p.Asp547Gly Single submitter ⚠
- p.Cys477Ser Single submitter ⚠
- p.Gln105Arg Single submitter ⚠
- p.Gln413fs Single submitter
- p.Gln414Arg Single submitter ⚠
- p.Gln422Glu Single submitter ⚠
- p.Gln422Pro Single submitter ⚠
- p.Glu419Lys Single submitter ⚠
- p.Gly386Ser Single submitter ⚠
- p.Gly552Ser Single submitter ⚠
- p.Gly84Ser Single submitter ⚠
- p.His27Leu Single submitter ⚠
- p.His293Arg Single submitter ⚠
- p.His350Leu Single submitter ⚠
- p.His612Arg Single submitter ⚠
- p.His625Asn Single submitter ⚠
- p.His632Tyr Single submitter ⚠
- p.Ile110Ser Single submitter ⚠
- p.Ile130Phe Single submitter ⚠
- p.Ile136Val Single submitter ⚠
- p.Ile251Val Single submitter ⚠
- p.Ile319Leu Single submitter ⚠
- p.Ile418Val Single submitter ⚠
- p.Ile427Leu Single submitter ⚠
- p.Ile434Val Single submitter ⚠
- p.Ile524Met Single submitter ⚠
- p.Leu15Val Single submitter ⚠
- p.Leu303Ile Single submitter ⚠
- p.Leu33Phe Single submitter ⚠
- p.Leu426Val Single submitter ⚠
- p.Leu486Phe Single submitter ⚠
- p.Leu88Phe Single submitter ⚠
- p.Lys405Arg Single submitter ⚠
- p.Lys416= Single submitter
- p.Lys53Arg Single submitter ⚠
- p.Lys53Glu Single submitter ⚠
- p.Lys543Gln Single submitter ⚠
- p.Lys54Arg Single submitter ⚠
- p.Lys61Met Single submitter ⚠
- p.Met254Ile Single submitter ⚠
- p.Met313Leu Single submitter ⚠
- p.Met313Val Single submitter ⚠
- p.Met367Leu Single submitter ⚠
- p.Met639Ile Single submitter ⚠
- p.Met639Val Single submitter ⚠
- p.Met74Thr Single submitter ⚠
- p.Met74Val Single submitter ⚠
- p.Phe387Leu Single submitter ⚠
- p.Phe461Tyr Single submitter ⚠
- p.Pro185Leu Single submitter ⚠
- p.Pro343His Single submitter ⚠
- p.Pro43Ala Single submitter ⚠
- p.Pro450Thr Single submitter ⚠
- p.Pro491fs Single submitter
- p.Thr190Arg Single submitter ⚠
- p.Thr388Ser Single submitter ⚠
- p.Thr409Ile Single submitter ⚠
- p.Thr449Met Single submitter ⚠
- p.Thr598Arg Single submitter ⚠
- p.Thr78Ala Single submitter ⚠
- p.Trp490Arg Single submitter ⚠
- p.Tyr236Cys Single submitter ⚠
- p.Tyr636Cys Single submitter ⚠
- p.Tyr98Cys Single submitter ⚠
- p.Val139Gly Single submitter ⚠
- p.Val156Ala Single submitter ⚠
- p.Val193Ala Single submitter ⚠
- p.Val200Ile Single submitter ⚠
- p.Val397Ile Single submitter ⚠
- p.Val570Ile Single submitter ⚠
- p.Val605Met Single submitter ⚠
- p.Val616Ile Single submitter ⚠
- p.Val91Ile Single submitter ⚠
- p.Val94Met Single submitter ⚠
- c.1902+1G>A No assertion criteria
- p.Gly17Asp No assertion criteria ⚠