ABCC11 — 241 ClinVar variants

All ClinVar germline ABCC11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →

1 Conflicting · 11 Benign · 30 Likely benign · 199 Uncertain significance

Full ABCC11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 207

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.

ABCC11 p.Val1065Met Conflicting Single submitter

Predictors lean, ClinVar uncertain 100

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

Predictors split 106

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

All ABCC11 variants

Conflicting classifications of pathogenicity 1

p.Val1065Met Single submitter ⚠

Benign 11

p.Ala414= Multiple submitters
p.Leu553= Multiple submitters
p.Met970Val Multiple submitters
p.Pro78Ser Multiple submitters
p.Thr1328= Multiple submitters
p.Thr546Met Multiple submitters
p.Trp8Cys Multiple submitters
p.Tyr803= Multiple submitters
p.Val491Ile Multiple submitters
p.Gly180Arg Single submitter
p.Arg1335Cys No assertion criteria APOCRINE GLAND SECRETION, VARIATION IN ⚠

Likely benign 30

p.Arg630Trp Multiple submitters ⚠
c.3778-5C>T Single submitter
p.Ala286Ser Single submitter
p.Ala399Val Single submitter
p.Ala870Thr Single submitter
p.Ala924Ser Single submitter
p.Arg109Gln Single submitter ⚠
p.Arg1166His Single submitter
p.Arg1241Cys Single submitter
p.Arg1318His Single submitter
p.Asn1033Ser Single submitter
p.Asn521Lys Single submitter
p.Gly520= Single submitter
p.Gly769Glu Single submitter
p.His1268Gln Single submitter
p.Ile305Val Single submitter
p.Leu1218Phe Single submitter ⚠
p.Met1310Thr Single submitter
p.Met416Val Single submitter
p.Met804Val Single submitter
p.Phe462Leu Single submitter
p.Ser938Ter Single submitter ABCC11-related condition
p.Thr1072Ala Single submitter
p.Thr1106Met Single submitter ⚠
p.Thr1269Ala Single submitter ⚠
p.Thr466Ala Single submitter
p.Val1361= Single submitter
p.Val325Leu Single submitter
p.Val813Met Single submitter
p.Val817Ile Single submitter ⚠

Uncertain significance 199

p.Ala1031Val Single submitter ⚠
p.Ala1095Val Single submitter ⚠
p.Ala1289Gly Single submitter ⚠
p.Ala208Pro Single submitter ⚠
p.Ala286Val Single submitter ⚠
p.Ala324Thr Single submitter ⚠
p.Ala414Val Single submitter ⚠
p.Ala447Ser Single submitter ⚠
p.Ala479Thr Single submitter ⚠
p.Ala494Thr Single submitter ⚠
p.Ala56Val Single submitter ⚠
p.Ala67Ser Single submitter ⚠
p.Ala799Thr Single submitter ⚠
p.Ala950Thr Single submitter ⚠
p.Arg109Trp Single submitter ⚠
p.Arg1190Cys Single submitter ⚠
p.Arg1198Gln Single submitter ⚠
p.Arg1198Trp Single submitter ⚠
p.Arg1215Gln Single submitter ⚠
p.Arg1241His Single submitter ⚠
p.Arg1283Gly Single submitter ⚠
p.Arg1294His Single submitter ⚠
p.Arg1318Cys Single submitter ⚠
p.Arg1321His Single submitter ⚠
p.Arg1358Trp Single submitter ⚠
p.Arg135Cys Single submitter ⚠
p.Arg1363Trp Single submitter ⚠
p.Arg144Gln Single submitter ⚠
p.Arg229Cys Single submitter ⚠
p.Arg229His Single submitter ⚠
p.Arg235Gln Single submitter ⚠
p.Arg338His Single submitter ⚠
p.Arg340His Single submitter ⚠
p.Arg373Gly Single submitter ⚠
p.Arg614Gln Single submitter ⚠
p.Arg630Gln Single submitter ⚠
p.Arg646Cys Single submitter ⚠
p.Arg652Cys Single submitter ⚠
p.Arg652His Single submitter ⚠
p.Arg69Lys Single submitter ⚠
p.Arg75Cys Single submitter ⚠
p.Arg75Leu Single submitter ⚠
p.Arg791Lys Single submitter ⚠
p.Arg889Gly Single submitter ⚠
p.Arg905His Single submitter ⚠
p.Arg918Trp Single submitter ⚠
p.Arg995Trp Single submitter ⚠
p.Asn1055Lys Single submitter ⚠
p.Asn1295Asp Single submitter ⚠
p.Asn545Asp Single submitter ⚠
p.Asn838Asp Single submitter ⚠
p.Asp1020Gly Single submitter ⚠
p.Asp1020His Single submitter ⚠
p.Asp1030Gly Single submitter ⚠
p.Asp1213Asn Single submitter ⚠
p.Asp1249Ala Single submitter ⚠
p.Asp1343Asn Single submitter ⚠
p.Asp1357Ala Single submitter ⚠
p.Asp166Asn Single submitter ⚠
p.Asp659Asn Single submitter ⚠
p.Asp65Gly Single submitter ⚠
p.Cys1131Arg Single submitter ⚠
p.Cys285Trp Single submitter ⚠
p.Cys711Arg Single submitter ⚠
p.Cys922Tyr Single submitter ⚠
p.Gln863Glu Single submitter ⚠
p.Glu1252Gln Single submitter ⚠
p.Glu138Gly Single submitter ⚠
p.Glu458Asp Single submitter ⚠
p.Glu478Asp Single submitter ⚠
p.Glu51Lys Single submitter ⚠
p.Glu565Lys Single submitter ⚠
p.Glu626Lys Single submitter ⚠
p.Glu674Gly Single submitter ⚠
p.Glu765Lys Single submitter ⚠
p.Gly1178Ser Single submitter ⚠
p.Gly1203Asp Single submitter ⚠
p.Gly1203Ser Single submitter ⚠
p.Gly1275Ser Single submitter ⚠
p.Gly1276Arg Single submitter ⚠
p.Gly380Arg Single submitter ⚠
p.Gly440Asp Single submitter ⚠
p.Gly489Arg Single submitter ⚠
p.Gly544Ser Single submitter ⚠
p.Gly631Ser Single submitter ⚠
p.Gly700Ser Single submitter ⚠
p.Gly769Arg Single submitter ⚠
p.Gly786Ala Single submitter ⚠
p.Gly786Val Single submitter ⚠
p.Gly882Glu Single submitter ⚠
p.Gly985Ser Single submitter ⚠
p.Ile1161Thr Single submitter ⚠
p.Ile1209Ser Single submitter ⚠
p.Ile1221Phe Single submitter ⚠
p.Ile1345Thr Single submitter ⚠
p.Ile146Thr Single submitter ⚠
p.Ile182Val Single submitter ⚠
p.Ile225Phe Single submitter ⚠
p.Ile23Val Single submitter ⚠
p.Ile307Val Single submitter ⚠
p.Ile365Thr Single submitter ⚠
p.Ile393Thr Single submitter ⚠
p.Ile627Phe Single submitter ⚠
p.Ile916Val Single submitter ⚠
p.Leu1184Ser Single submitter ⚠
p.Leu1218His Single submitter ⚠
p.Leu410Arg Single submitter ⚠
p.Leu742Phe Single submitter ⚠
p.Leu759Met Single submitter ⚠
p.Leu767Phe Single submitter ⚠
p.Leu899Phe Single submitter ⚠
p.Leu930Pro Single submitter ⚠
p.Leu95Val Single submitter ⚠
p.Lys1077Ile Single submitter ⚠
p.Lys1258Arg Single submitter ⚠
p.Lys1297Glu Single submitter ⚠
p.Lys359Arg Single submitter ⚠
p.Lys439Gln Single submitter ⚠
p.Lys453Thr Single submitter ⚠
p.Lys709Asn Single submitter ⚠
p.Lys722Ile Single submitter ⚠
p.Met1117Thr Single submitter ⚠
p.Met1148Val Single submitter ⚠
p.Met1195Thr Single submitter ⚠
p.Met27Ile Single submitter ⚠
p.Met561Val Single submitter ⚠
p.Met733Arg Single submitter ⚠
p.Met847Ile Single submitter ⚠
p.Met979Lys Single submitter ⚠
p.Phe1105Tyr Single submitter ⚠
p.Phe1370Leu Single submitter ⚠
p.Phe249Ser Single submitter ⚠
p.Phe391Leu Single submitter ⚠
p.Phe80Ile Single submitter ⚠
p.Phe980Leu Single submitter ⚠
p.Pro102Leu Single submitter ⚠
p.Pro1073Arg Single submitter ⚠
p.Pro119Leu Single submitter ⚠
p.Pro1359Gln Single submitter ⚠
p.Pro279Leu Single submitter ⚠
p.Pro42Ser Single submitter ⚠
p.Pro516Ser Single submitter ⚠
p.Pro53Ser Single submitter ⚠
p.Pro78Leu Single submitter ⚠
p.Pro85Ala Single submitter ⚠
p.Pro85Thr Single submitter ⚠
p.Pro935Ser Single submitter ⚠
p.Ser1010Arg Single submitter ⚠
p.Ser1011Phe Single submitter ⚠
p.Ser1075Tyr Single submitter ⚠
p.Ser292Gly Single submitter ⚠
p.Ser387Asn Single submitter ⚠
p.Ser522Asn Single submitter ⚠
p.Ser573Asn Single submitter ⚠
p.Ser635Ala Single submitter ⚠
p.Ser739Leu Single submitter ⚠
p.Ser806Cys Single submitter ⚠
p.Ser835Leu Single submitter ⚠
p.Thr101Asn Single submitter ⚠
p.Thr1129Ile Single submitter ⚠
p.Thr1129Ser Single submitter ⚠
p.Thr1254Ile Single submitter ⚠
p.Thr1269Ile Single submitter ⚠
p.Thr1337Ala Single submitter ⚠
p.Thr1337Ser Single submitter ⚠
p.Thr161Lys Single submitter ⚠
p.Thr302Ala Single submitter ⚠
p.Thr389Asn Single submitter ⚠
p.Thr389Ser Single submitter ⚠
p.Thr406Ala Single submitter ⚠
p.Thr413Ile Single submitter ⚠
p.Thr480Pro Single submitter ⚠
p.Thr625Ala Single submitter ⚠
p.Thr685Met Single submitter ⚠
p.Thr888Met Single submitter ⚠
p.Thr893Met Single submitter ⚠
p.Trp43Cys Single submitter ⚠
p.Trp61Leu Single submitter ⚠
p.Tyr1015Asp Single submitter ⚠
p.Tyr310Asn Single submitter ⚠
p.Tyr603Cys Single submitter ⚠
p.Tyr649Cys Single submitter ⚠
p.Tyr695Cys Single submitter ⚠
p.Tyr94His Single submitter ⚠
p.Val1108Ile Single submitter ⚠
p.Val1157Met Single submitter ⚠
p.Val1204Met Single submitter ⚠
p.Val1271Leu Single submitter ⚠
p.Val178Ile Single submitter ⚠
p.Val275Leu Single submitter ⚠
p.Val402Leu Single submitter ⚠
p.Val568Ala Single submitter ⚠
p.Val606Ala Single submitter ⚠
p.Val754Leu Single submitter ⚠
p.Val817Ala Single submitter ⚠
p.Val887Ile Single submitter ⚠
p.Val955Phe Single submitter ⚠
p.Ala286Thr No assertion criteria ⚠
p.Leu946Phe No assertion criteria ⚠