ABCB5 — 219 ClinVar variants

All ClinVar germline ABCB5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →

4 Benign · 17 Likely benign · 198 Uncertain significance

Full ABCB5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 205

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 91

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 114

The independent predictors disagree with each other — read with care.

All ABCB5 variants

Benign 4

c.679-10T>G Single submitter
p.Gln905His Single submitter ⚠
p.Glu1124Lys Single submitter ⚠
p.Val578Met Single submitter ⚠

Likely benign 17

p.Ala350Thr Multiple submitters ⚠
p.Val1209Ala Multiple submitters ⚠
p.Ala601Val Single submitter
p.Arg1042Gln Single submitter
p.Arg283Lys Single submitter
p.Asp1245= Single submitter
p.Gly1140Ser Single submitter
p.Ile45= Single submitter
p.Ile533= Single submitter
p.Ile734Met Single submitter
p.Leu1066Phe Single submitter
p.Pro687Ser Single submitter ⚠
p.Ser237Asn Single submitter
p.Ser553= Single submitter
p.Val147Ile Single submitter
p.Val198Ile Single submitter
p.Val620Ala Single submitter ⚠

Uncertain significance 198

p.Ala1112Thr Single submitter ⚠
p.Ala1154Gly Single submitter ⚠
p.Ala221Val Single submitter ⚠
p.Ala223Ser Single submitter ⚠
p.Ala327Thr Single submitter ⚠
p.Ala501Glu Single submitter ⚠
p.Ala570Ser Single submitter ⚠
p.Ala570Val Single submitter ⚠
p.Ala580Ser Single submitter ⚠
p.Ala589Val Single submitter ⚠
p.Ala60Asp Single submitter ⚠
p.Ala760Glu Single submitter ⚠
p.Ala857Val Single submitter ⚠
p.Ala895Ser Single submitter ⚠
p.Ala941Asp Single submitter ⚠
p.Ala975Thr Single submitter ⚠
p.Ala985Thr Single submitter ⚠
p.Arg1244Pro Single submitter ⚠
p.Arg166Cys Single submitter ⚠
p.Arg226Met Single submitter ⚠
p.Arg254Gly Single submitter ⚠
p.Arg27Ile Single submitter ⚠
p.Arg353Gln Single submitter ⚠
p.Arg38His Single submitter ⚠
p.Arg582Gln Single submitter ⚠
p.Arg759Thr Single submitter ⚠
p.Arg812Thr Single submitter ⚠
p.Arg892Gly Single submitter ⚠
p.Asn1014Lys Single submitter ⚠
p.Asn1085Lys Single submitter ⚠
p.Asn1104Ser Single submitter ⚠
p.Asn1219Ile Single submitter ⚠
p.Asn272Ile Single submitter ⚠
p.Asn315Ile Single submitter ⚠
p.Asn423Asp Single submitter ⚠
p.Asn58Ile Single submitter ⚠
p.Asn685Asp Single submitter ⚠
p.Asn75Ile Single submitter ⚠
p.Asn864Lys Single submitter ⚠
p.Asn91Ser Single submitter ⚠
p.Asp1009Glu Single submitter ⚠
p.Asp1068Glu Single submitter ⚠
p.Asp1199Glu Single submitter ⚠
p.Asp275Gly Single submitter ⚠
p.Asp364His Single submitter ⚠
p.Asp451Asn Single submitter ⚠
p.Asp624Tyr Single submitter ⚠
p.Asp999Asn Single submitter ⚠
p.Asp999His Single submitter ⚠
p.Cys338Tyr Single submitter ⚠
p.Cys80Ser Single submitter ⚠
p.Gln1071Glu Single submitter ⚠
p.Gln1071Leu Single submitter ⚠
p.Gln15Arg Single submitter ⚠
p.Gln916His Single submitter ⚠
p.Glu1041Asp Single submitter ⚠
p.Glu1041Gln Single submitter ⚠
p.Glu22Ala Single submitter ⚠
p.Glu22Gln Single submitter ⚠
p.Glu263Lys Single submitter ⚠
p.Glu470Gly Single submitter ⚠
p.Glu492Lys Single submitter ⚠
p.Glu788Lys Single submitter ⚠
p.Glu993Gly Single submitter ⚠
p.Gly1043Arg Single submitter ⚠
p.Gly1053Ser Single submitter ⚠
p.Gly1204Glu Single submitter ⚠
p.Gly243Arg Single submitter ⚠
p.Gly309Glu Single submitter ⚠
p.Gly42Ala Single submitter ⚠
p.Gly573Cys Single submitter ⚠
p.Gly59Glu Single submitter ⚠
p.Gly758Ser Single submitter ⚠
p.Gly861Ala Single submitter ⚠
p.Gly874Arg Single submitter ⚠
p.His145Tyr Single submitter ⚠
p.His334Arg Single submitter ⚠
p.His770Arg Single submitter ⚠
p.Ile1040Thr Single submitter ⚠
p.Ile1107Thr Single submitter ⚠
p.Ile1125Asn Single submitter ⚠
p.Ile1138Leu Single submitter ⚠
p.Ile171Thr Single submitter ⚠
p.Ile182Thr Single submitter ⚠
p.Ile253Val Single submitter ⚠
p.Ile281Arg Single submitter ⚠
p.Ile285Thr Single submitter ⚠
p.Ile333Phe Single submitter ⚠
p.Ile363Thr Single submitter ⚠
p.Ile452Met Single submitter ⚠
p.Ile49Met Single submitter ⚠
p.Ile545Val Single submitter ⚠
p.Ile671Val Single submitter ⚠
p.Ile681Met Single submitter ⚠
p.Ile716Asn Single submitter ⚠
p.Ile800Thr Single submitter ⚠
p.Ile844Ser Single submitter ⚠
p.Leu1178Ser Single submitter ⚠
p.Leu196Pro Single submitter ⚠
p.Leu250Trp Single submitter ⚠
p.Leu291Pro Single submitter ⚠
p.Leu326His Single submitter ⚠
p.Leu47Ile Single submitter ⚠
p.Leu47Pro Single submitter ⚠
p.Leu609Val Single submitter ⚠
p.Leu798Ser Single submitter ⚠
p.Leu81Val Single submitter ⚠
p.Leu840Gln Single submitter ⚠
p.Leu991Phe Single submitter ⚠
p.Lys1006Glu Single submitter ⚠
p.Lys1249Asn Single submitter ⚠
p.Lys202Arg Single submitter ⚠
p.Lys264Glu Single submitter ⚠
p.Lys282Thr Single submitter ⚠
p.Lys405Glu Single submitter ⚠
p.Lys560Gln Single submitter ⚠
p.Lys596Thr Single submitter ⚠
p.Lys683Asn Single submitter ⚠
p.Lys787Glu Single submitter ⚠
p.Lys913Asn Single submitter ⚠
p.Met218Lys Single submitter ⚠
p.Met446Ile Single submitter ⚠
p.Met494Leu Single submitter ⚠
p.Met610Thr Single submitter ⚠
p.Met621Ile Single submitter ⚠
p.Met621Thr Single submitter ⚠
p.Met621Val Single submitter ⚠
p.Met752Thr Single submitter ⚠
p.Met766Thr Single submitter ⚠
p.Met776Ile Single submitter ⚠
p.Met837Ile Single submitter ⚠
p.Met853Val Single submitter ⚠
p.Phe1023Leu Single submitter ⚠
p.Phe1137Val Single submitter ⚠
p.Phe279Ser Single submitter ⚠
p.Phe297Ser Single submitter ⚠
p.Phe357Ile Single submitter ⚠
p.Phe709Ile Single submitter ⚠
p.Phe784Cys Single submitter ⚠
p.Phe939Leu Single submitter ⚠
p.Pro24Leu Single submitter ⚠
p.Pro318Leu Single submitter ⚠
p.Pro399Leu Single submitter ⚠
p.Pro440Leu Single submitter ⚠
p.Pro674Ser Single submitter ⚠
p.Pro690Arg Single submitter ⚠
p.Ser1059Phe Single submitter ⚠
p.Ser126Pro Single submitter ⚠
p.Ser233Arg Single submitter ⚠
p.Ser428Arg Single submitter ⚠
p.Ser479Gly Single submitter ⚠
p.Ser638Pro Single submitter ⚠
p.Ser653Asn Single submitter ⚠
p.Ser677Pro Single submitter ⚠
p.Ser843Thr Single submitter ⚠
p.Thr1211Ser Single submitter ⚠
p.Thr1236Ile Single submitter ⚠
p.Thr131Ser Single submitter ⚠
p.Thr207Ile Single submitter ⚠
p.Thr321Pro Single submitter ⚠
p.Thr516Ile Single submitter ⚠
p.Thr552Met Single submitter ⚠
p.Thr594Ile Single submitter ⚠
p.Thr594Ser Single submitter ⚠
p.Thr718Asn Single submitter ⚠
p.Thr765Lys Single submitter ⚠
p.Thr809Lys Single submitter ⚠
p.Thr84Ile Single submitter ⚠
p.Thr84Ser Single submitter ⚠
p.Thr86Lys Single submitter ⚠
p.Thr959Ser Single submitter ⚠
p.Trp1088Cys Single submitter ⚠
p.Trp1088Leu Single submitter ⚠
p.Trp128Arg Single submitter ⚠
p.Trp128Cys Single submitter ⚠
p.Tyr1024Ser Single submitter ⚠
p.Tyr110Ser Single submitter ⚠
p.Tyr122Phe Single submitter ⚠
p.Tyr269Cys Single submitter ⚠
p.Tyr269His Single submitter ⚠
p.Tyr308Asn Single submitter ⚠
p.Tyr504Asp Single submitter ⚠
p.Tyr978Cys Single submitter ⚠
p.Val1086Ala Single submitter ⚠
p.Val1193Leu Single submitter ⚠
p.Val489Ala Single submitter ⚠
p.Val563Ile Single submitter ⚠
p.Val563Leu Single submitter ⚠
p.Val57Ile Single submitter ⚠
p.Val676Ile Single submitter ⚠
p.Val68Leu Single submitter ⚠
p.Val740Ile Single submitter ⚠
p.Val744Phe Single submitter ⚠
p.Val815Asp Single submitter ⚠
p.Val847Leu Single submitter ⚠
p.Val850Met Single submitter ⚠
p.Val888Ala Single submitter ⚠
p.Val957Ala Single submitter ⚠