ABCC5 — 141 ClinVar variants
All ClinVar germline ABCC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →
4 Benign · 4 Likely benign · 133 Uncertain significance
Full ABCC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 136
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCC5 p.Ala1008Ser Uncertain significance Single submitter
- ABCC5 p.Ala1150Thr Uncertain significance Single submitter
- ABCC5 p.Ala1182Val Uncertain significance Single submitter
- ABCC5 p.Ala1434Thr Uncertain significance Single submitter
- ABCC5 p.Ala164Thr Uncertain significance Single submitter
- ABCC5 p.Ala210Thr Uncertain significance Single submitter
- ABCC5 p.Ala350Thr Uncertain significance Single submitter
- ABCC5 p.Arg1037Trp Uncertain significance Single submitter
- ABCC5 p.Arg1041Leu Uncertain significance Single submitter
- ABCC5 p.Arg120Cys Uncertain significance Single submitter
- ABCC5 p.Arg1285Gly Uncertain significance Single submitter
- ABCC5 p.Arg169Lys Uncertain significance Single submitter
- ABCC5 p.Arg535His Uncertain significance Single submitter
- ABCC5 p.Arg55Gln Uncertain significance Single submitter
- ABCC5 p.Arg573His Uncertain significance Single submitter
- ABCC5 p.Arg576Lys Uncertain significance Single submitter
- ABCC5 p.Arg946Gln Uncertain significance Single submitter
- ABCC5 p.Arg957Gln Uncertain significance Single submitter
- ABCC5 p.Asn795Asp Uncertain significance Single submitter
- ABCC5 p.Asp1328Asn Uncertain significance Single submitter
- ABCC5 p.Asp163Gly Uncertain significance Single submitter
- ABCC5 p.Asp427Asn Uncertain significance Single submitter
- ABCC5 p.Asp427His Uncertain significance Single submitter
- ABCC5 p.Asp582Asn Uncertain significance Single submitter
- ABCC5 p.Asp709Tyr Uncertain significance Single submitter
- ABCC5 p.Gln356Arg Uncertain significance Single submitter
- ABCC5 p.Glu1374Asp Uncertain significance Single submitter
- ABCC5 p.Glu140Asp Uncertain significance Single submitter
- ABCC5 p.Glu555Lys Uncertain significance Single submitter
- ABCC5 p.Glu74Lys Uncertain significance Single submitter
- ABCC5 p.Glu826Lys Uncertain significance Single submitter
- ABCC5 p.Gly1005Arg Uncertain significance Single submitter
- ABCC5 p.Gly1070Arg Uncertain significance Single submitter
- ABCC5 p.Gly224Asp Uncertain significance Single submitter
- ABCC5 p.Gly889Arg Uncertain significance Single submitter
- ABCC5 p.Gly969Val Uncertain significance Single submitter
- ABCC5 p.His421Asp Uncertain significance Single submitter
- ABCC5 p.His477Arg Uncertain significance Single submitter
- ABCC5 p.His731Gln Uncertain significance Single submitter
- ABCC5 p.Ile1030Phe Uncertain significance Single submitter
- ABCC5 p.Ile173Asn Uncertain significance Single submitter
- ABCC5 p.Ile4Asn Uncertain significance Single submitter
- ABCC5 p.Leu179Phe Uncertain significance Single submitter
- ABCC5 p.Leu191Pro Uncertain significance Single submitter
- ABCC5 p.Leu223Pro Uncertain significance Single submitter
- ABCC5 p.Leu44Val Uncertain significance Single submitter
- ABCC5 p.Leu675Pro Uncertain significance Single submitter
- ABCC5 p.Leu947Pro Uncertain significance Single submitter
- ABCC5 p.Lys1181Asn Uncertain significance Single submitter
- ABCC5 p.Lys357Arg Uncertain significance Single submitter
- ABCC5 p.Lys961Arg Uncertain significance Single submitter
- ABCC5 p.Lys961Asn Uncertain significance Single submitter
- ABCC5 p.Met308Val Uncertain significance Single submitter
- ABCC5 p.Met992Val Uncertain significance Single submitter
- ABCC5 p.Phe38Ser Uncertain significance Single submitter
- ABCC5 p.Pro100Arg Uncertain significance Single submitter
- ABCC5 p.Pro1126Ser Uncertain significance Single submitter
- ABCC5 p.Ser469Asn Uncertain significance Single submitter
- ABCC5 p.Ser672Gly Uncertain significance Single submitter
- ABCC5 p.Ser704Asn Uncertain significance Single submitter
- ABCC5 p.Ser840Ala Uncertain significance Single submitter
- ABCC5 p.Ser900Leu Uncertain significance Single submitter
- ABCC5 p.Thr1055Arg Uncertain significance Single submitter
- ABCC5 p.Thr29Met Uncertain significance Single submitter
- ABCC5 p.Thr363Ser Uncertain significance Single submitter
- ABCC5 p.Thr741Ile Uncertain significance Single submitter
- ABCC5 p.Tyr846His Uncertain significance Single submitter
- ABCC5 p.Val133Met Uncertain significance Single submitter
- ABCC5 p.Val170Ala Uncertain significance Single submitter
- ABCC5 p.Val848Ala Uncertain significance Single submitter
- ABCC5 p.Asn642Ser Uncertain significance No assertion criteria
Predictors split 65
The independent predictors disagree with each other — read with care.
- ABCC5 p.Ala1302Gly Uncertain significance Single submitter
- ABCC5 p.Ala1343Thr Uncertain significance Single submitter
- ABCC5 p.Ala495Thr Uncertain significance Single submitter
- ABCC5 p.Ala629Thr Uncertain significance Single submitter
- ABCC5 p.Ala727Thr Uncertain significance Single submitter
- ABCC5 p.Arg1201Lys Uncertain significance Single submitter
- ABCC5 p.Arg1203Gln Likely benign Single submitter
- ABCC5 p.Arg120His Uncertain significance Single submitter
- ABCC5 p.Arg1335Gln Uncertain significance Single submitter
- ABCC5 p.Arg168Gln Uncertain significance Single submitter
- ABCC5 p.Arg168Pro Uncertain significance Single submitter
- ABCC5 p.Arg245Gln Uncertain significance Single submitter
- ABCC5 p.Arg251Gln Uncertain significance Single submitter
- ABCC5 p.Arg33Cys Uncertain significance Single submitter
- ABCC5 p.Arg389His Uncertain significance Single submitter
- ABCC5 p.Arg390Gln Uncertain significance Single submitter
- ABCC5 p.Asn1068Ser Likely benign Single submitter
- ABCC5 p.Asn636Ser Uncertain significance Single submitter
- ABCC5 p.Asn684Ser Uncertain significance Single submitter
- ABCC5 p.Asn897Ser Uncertain significance Single submitter
- ABCC5 p.Asn897Tyr Uncertain significance Single submitter
- ABCC5 p.Asp1395Asn Uncertain significance Single submitter
- ABCC5 p.Asp650Gly Uncertain significance Single submitter
- ABCC5 p.Gln1059Arg Uncertain significance Single submitter
- ABCC5 p.Gln745Glu Uncertain significance Single submitter
- ABCC5 p.Glu150Gly Uncertain significance Single submitter
- ABCC5 p.Gly299Glu Uncertain significance Single submitter
- ABCC5 p.Gly425Asp Uncertain significance Single submitter
- ABCC5 p.Gly687Ser Uncertain significance Single submitter
- ABCC5 p.Gly775Ala Uncertain significance Single submitter
- ABCC5 p.Gly775Val Uncertain significance Single submitter
- ABCC5 p.Ile1178Ser Uncertain significance Single submitter
- ABCC5 p.Ile180Met Uncertain significance Single submitter
- ABCC5 p.Ile279Thr Uncertain significance Single submitter
- ABCC5 p.Ile365Val Uncertain significance Single submitter
- ABCC5 p.Ile412Thr Uncertain significance Single submitter
- ABCC5 p.Ile862Phe Uncertain significance Single submitter
- ABCC5 p.Leu1024Pro Uncertain significance Single submitter
- ABCC5 p.Leu424Val Uncertain significance Single submitter
- ABCC5 p.Lys1222Gln Uncertain significance Single submitter
- ABCC5 p.Lys1252Glu Uncertain significance Single submitter
- ABCC5 p.Lys515Gln Uncertain significance Single submitter
- ABCC5 p.Met1200Ile Uncertain significance Single submitter
- ABCC5 p.Met1200Val Uncertain significance Single submitter
- ABCC5 p.Met200Thr Uncertain significance Single submitter
- ABCC5 p.Ser1268Gly Uncertain significance Single submitter
- ABCC5 p.Ser1281Ile Uncertain significance Single submitter
- ABCC5 p.Ser182Cys Uncertain significance Single submitter
- ABCC5 p.Ser235Leu Uncertain significance Single submitter
- ABCC5 p.Ser501Tyr Likely benign Single submitter
- ABCC5 p.Ser840Leu Uncertain significance Single submitter
- ABCC5 p.Thr1140Met Uncertain significance Single submitter
- ABCC5 p.Thr1295Ile Uncertain significance Single submitter
- ABCC5 p.Thr1306Ala Uncertain significance Single submitter
- ABCC5 p.Thr1383Ser Uncertain significance Single submitter
- ABCC5 p.Thr423Asn Uncertain significance Single submitter
- ABCC5 p.Thr762Met Uncertain significance Single submitter
- ABCC5 p.Thr940Met Uncertain significance Single submitter
- ABCC5 p.Thr966Asn Uncertain significance Single submitter
- ABCC5 p.Val1118Phe Uncertain significance Single submitter
- ABCC5 p.Val1209Ile Uncertain significance Single submitter
- ABCC5 p.Val184Met Uncertain significance Single submitter
- ABCC5 p.Val231Met Uncertain significance Single submitter
- ABCC5 p.Val415Met Uncertain significance Single submitter
- ABCC5 p.Val935Ile Uncertain significance Single submitter
All ABCC5 variants
Benign 4
- c.825+10G>A Multiple submitters
- p.Cys594= Multiple submitters
- c.591+2369C>T Single submitter
- p.Gln1071= Single submitter
Likely benign 4
- p.Arg1203Gln Single submitter ⚠
- p.Asn1068Ser Single submitter ⚠
- p.Ser501Tyr Single submitter ⚠
- p.Ser900= Single submitter
Uncertain significance 133
- p.Ala1008Ser Single submitter ⚠
- p.Ala1150Thr Single submitter ⚠
- p.Ala1182Val Single submitter ⚠
- p.Ala1302Gly Single submitter ⚠
- p.Ala1343Thr Single submitter ⚠
- p.Ala1434Thr Single submitter ⚠
- p.Ala164Thr Single submitter ⚠
- p.Ala210Thr Single submitter ⚠
- p.Ala350Thr Single submitter ⚠
- p.Ala495Thr Single submitter ⚠
- p.Ala629Thr Single submitter ⚠
- p.Ala727Thr Single submitter ⚠
- p.Arg1037Trp Single submitter ⚠
- p.Arg1041Leu Single submitter ⚠
- p.Arg1201Lys Single submitter ⚠
- p.Arg120Cys Single submitter ⚠
- p.Arg120His Single submitter ⚠
- p.Arg1285Gly Single submitter ⚠
- p.Arg1335Gln Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg168Pro Single submitter ⚠
- p.Arg169Lys Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg33Cys Single submitter ⚠
- p.Arg389His Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg535His Single submitter ⚠
- p.Arg55Gln Single submitter ⚠
- p.Arg573His Single submitter ⚠
- p.Arg576Lys Single submitter ⚠
- p.Arg946Gln Single submitter ⚠
- p.Arg957Gln Single submitter ⚠
- p.Asn636Ser Single submitter ⚠
- p.Asn684Ser Single submitter ⚠
- p.Asn795Asp Single submitter ⚠
- p.Asn897Ser Single submitter ⚠
- p.Asn897Tyr Single submitter ⚠
- p.Asp1328Asn Single submitter ⚠
- p.Asp1395Asn Single submitter ⚠
- p.Asp163Gly Single submitter ⚠
- p.Asp427Asn Single submitter ⚠
- p.Asp427His Single submitter ⚠
- p.Asp582Asn Single submitter ⚠
- p.Asp650Gly Single submitter ⚠
- p.Asp709Tyr Single submitter ⚠
- p.Gln1059Arg Single submitter ⚠
- p.Gln356Arg Single submitter ⚠
- p.Gln745Glu Single submitter ⚠
- p.Glu1374Asp Single submitter ⚠
- p.Glu140Asp Single submitter ⚠
- p.Glu150Gly Single submitter ⚠
- p.Glu555Lys Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Glu826Lys Single submitter ⚠
- p.Gly1005Arg Single submitter ⚠
- p.Gly1070Arg Single submitter ⚠
- p.Gly224Asp Single submitter ⚠
- p.Gly299Glu Single submitter ⚠
- p.Gly425Asp Single submitter ⚠
- p.Gly687Ser Single submitter ⚠
- p.Gly775Ala Single submitter ⚠
- p.Gly775Val Single submitter ⚠
- p.Gly889Arg Single submitter ⚠
- p.Gly969Val Single submitter ⚠
- p.His421Asp Single submitter ⚠
- p.His477Arg Single submitter ⚠
- p.His731Gln Single submitter ⚠
- p.Ile1030Phe Single submitter ⚠
- p.Ile1178Ser Single submitter ⚠
- p.Ile173Asn Single submitter ⚠
- p.Ile180Met Single submitter ⚠
- p.Ile279Thr Single submitter ⚠
- p.Ile365Val Single submitter ⚠
- p.Ile412Thr Single submitter ⚠
- p.Ile4Asn Single submitter ⚠
- p.Ile862Phe Single submitter ⚠
- p.Leu1024Pro Single submitter ⚠
- p.Leu179Phe Single submitter ⚠
- p.Leu191Pro Single submitter ⚠
- p.Leu223Pro Single submitter ⚠
- p.Leu424Val Single submitter ⚠
- p.Leu44Val Single submitter ⚠
- p.Leu675Pro Single submitter ⚠
- p.Leu947Pro Single submitter ⚠
- p.Lys1181Asn Single submitter ⚠
- p.Lys1222Gln Single submitter ⚠
- p.Lys1252Glu Single submitter ⚠
- p.Lys357Arg Single submitter ⚠
- p.Lys515Gln Single submitter ⚠
- p.Lys961Arg Single submitter ⚠
- p.Lys961Asn Single submitter ⚠
- p.Met1200Ile Single submitter ⚠
- p.Met1200Val Single submitter ⚠
- p.Met200Thr Single submitter ⚠
- p.Met308Val Single submitter ⚠
- p.Met992Val Single submitter ⚠
- p.Phe38Ser Single submitter ⚠
- p.Pro100Arg Single submitter ⚠
- p.Pro1126Ser Single submitter ⚠
- p.Ser1268Gly Single submitter ⚠
- p.Ser1281Ile Single submitter ⚠
- p.Ser182Cys Single submitter ⚠
- p.Ser235Leu Single submitter ⚠
- p.Ser469Asn Single submitter ⚠
- p.Ser672Gly Single submitter ⚠
- p.Ser704Asn Single submitter ⚠
- p.Ser840Ala Single submitter ⚠
- p.Ser840Leu Single submitter ⚠
- p.Ser900Leu Single submitter ⚠
- p.Thr1055Arg Single submitter ⚠
- p.Thr1140Met Single submitter ⚠
- p.Thr1295Ile Single submitter ⚠
- p.Thr1306Ala Single submitter ⚠
- p.Thr1383Ser Single submitter ⚠
- p.Thr29Met Single submitter ⚠
- p.Thr363Ser Single submitter ⚠
- p.Thr423Asn Single submitter ⚠
- p.Thr741Ile Single submitter ⚠
- p.Thr762Met Single submitter ⚠
- p.Thr940Met Single submitter ⚠
- p.Thr966Asn Single submitter ⚠
- p.Tyr846His Single submitter ⚠
- p.Val1118Phe Single submitter ⚠
- p.Val1209Ile Single submitter ⚠
- p.Val133Met Single submitter ⚠
- p.Val170Ala Single submitter ⚠
- p.Val184Met Single submitter ⚠
- p.Val231Met Single submitter ⚠
- p.Val415Met Single submitter ⚠
- p.Val848Ala Single submitter ⚠
- p.Val935Ile Single submitter ⚠
- p.Asn642Ser No assertion criteria ⚠