ABCC12 — 205 ClinVar variants

All ClinVar germline ABCC12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →

5 Benign · 1 Benign/Likely benign · 12 Likely benign · 187 Uncertain significance

Full ABCC12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 189

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 101

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

Predictors split 88

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

All ABCC12 variants

Benign 5

p.Glu1191Ala Multiple submitters
p.Lys1344= Multiple submitters
p.Lys894Met Multiple submitters
p.Phe54= Multiple submitters
p.Lys66fs Single submitter

Benign/Likely benign 1

p.Gly164Ter Multiple submitters

Likely benign 12

p.Arg122= Multiple submitters
p.Gln831Ter Multiple submitters
p.Ala809Ser Single submitter
p.Arg1123Lys Single submitter
p.Arg615= Single submitter
p.Arg621His Single submitter ⚠
p.Glu1079= Single submitter
p.Ile735Thr Single submitter
p.Ser883Cys Single submitter ⚠
p.Ser993= Single submitter
p.Val249Ala Single submitter
p.Val850Ala Single submitter

Uncertain significance 187

p.Thr1080Ala Multiple submitters ⚠
p.Ala1312Thr Single submitter ⚠
p.Ala235Thr Single submitter ⚠
p.Ala374Thr Single submitter ⚠
p.Ala525Gly Single submitter ⚠
p.Ala55Thr Single submitter ⚠
p.Ala717Val Single submitter ⚠
p.Ala788Val Single submitter ⚠
p.Ala809Thr Single submitter ⚠
p.Arg1023Thr Single submitter ⚠
p.Arg1028Ile Single submitter ⚠
p.Arg1075Pro Single submitter ⚠
p.Arg1123Gly Single submitter ⚠
p.Arg1262Cys Single submitter ⚠
p.Arg1269Gln Single submitter ⚠
p.Arg1273His Single submitter ⚠
p.Arg1314Ser Single submitter ⚠
p.Arg18Trp Single submitter ⚠
p.Arg24Ser Single submitter ⚠
p.Arg558Lys Single submitter ⚠
p.Arg577Cys Single submitter ⚠
p.Arg599Gln Single submitter ⚠
p.Arg599Trp Single submitter ⚠
p.Arg694Cys Single submitter ⚠
p.Arg69Gln Single submitter ⚠
p.Arg911His Single submitter ⚠
p.Arg911Ser Single submitter ⚠
p.Arg984Trp Single submitter ⚠
p.Asn1253His Single submitter ⚠
p.Asp1346His Single submitter ⚠
p.Asp13Val Single submitter ⚠
p.Asp227Tyr Single submitter ⚠
p.Asp296Gly Single submitter ⚠
p.Asp429Gly Single submitter ⚠
p.Asp429Val Single submitter ⚠
p.Asp628His Single submitter ⚠
p.Asp915Asn Single submitter ⚠
p.Cys166Tyr Single submitter ⚠
p.Cys308Arg Single submitter ⚠
p.Cys308Ser Single submitter ⚠
p.Cys38Arg Single submitter ⚠
p.Cys579Phe Single submitter ⚠
p.Gln1148Glu Single submitter ⚠
p.Gln459Arg Single submitter ⚠
p.Gln459Glu Single submitter ⚠
p.Gln570Arg Single submitter ⚠
p.Gln570Pro Single submitter ⚠
p.Gln765Lys Single submitter ⚠
p.Gln831Pro Single submitter ⚠
p.Glu107Gln Single submitter ⚠
p.Glu1100Ala Single submitter ⚠
p.Glu1343Gln Single submitter ⚠
p.Glu1356Lys Single submitter ⚠
p.Glu173Lys Single submitter ⚠
p.Glu219Lys Single submitter ⚠
p.Glu444Asp Single submitter ⚠
p.Glu711Lys Single submitter ⚠
p.Glu724Gln Single submitter ⚠
p.Gly1108Arg Single submitter ⚠
p.Gly1151Trp Single submitter ⚠
p.Gly1254Glu Single submitter ⚠
p.Gly260Trp Single submitter ⚠
p.Gly3Ser Single submitter ⚠
p.Gly516Glu Single submitter ⚠
p.Gly535Glu Single submitter ⚠
p.Gly605Val Single submitter ⚠
p.Gly606Ala Single submitter ⚠
p.Gly67Ala Single submitter ⚠
p.Gly807Asp Single submitter ⚠
p.Gly823Ser Single submitter ⚠
p.His1103Gln Single submitter ⚠
p.His640Arg Single submitter ⚠
p.Ile1051Phe Single submitter ⚠
p.Ile1051Val Single submitter ⚠
p.Ile1178Met Single submitter ⚠
p.Ile1178Val Single submitter ⚠
p.Ile1180Thr Single submitter ⚠
p.Ile1239Val Single submitter ⚠
p.Ile163Thr Single submitter ⚠
p.Ile186Val Single submitter ⚠
p.Ile246Val Single submitter ⚠
p.Ile258Phe Single submitter ⚠
p.Ile272Val Single submitter ⚠
p.Ile328Val Single submitter ⚠
p.Ile414Val Single submitter ⚠
p.Ile416Arg Single submitter ⚠
p.Ile561Val Single submitter ⚠
p.Ile596Thr Single submitter ⚠
p.Ile611Phe Single submitter ⚠
p.Ile672Thr Single submitter ⚠
p.Leu1167Phe Single submitter ⚠
p.Leu1190Val Single submitter ⚠
p.Leu1246Ser Single submitter ⚠
p.Leu1280Arg Single submitter ⚠
p.Leu144Phe Single submitter ⚠
p.Leu224Pro Single submitter ⚠
p.Leu463Ser Single submitter ⚠
p.Leu603Phe Single submitter ⚠
p.Leu688Val Single submitter ⚠
p.Leu796Val Single submitter ⚠
p.Leu8His Single submitter ⚠
p.Leu952Ile Single submitter ⚠
p.Leu966Ile Single submitter ⚠
p.Lys297Glu Single submitter ⚠
p.Lys418Glu Single submitter ⚠
p.Lys505Gln Single submitter ⚠
p.Lys697Asn Single submitter ⚠
p.Lys748Arg Single submitter ⚠
p.Lys822Asn Single submitter ⚠
p.Met302Arg Single submitter ⚠
p.Met383Ile Single submitter ⚠
p.Met383Leu Single submitter ⚠
p.Met879Val Single submitter ⚠
p.Met897Val Single submitter ⚠
p.Phe873Ser Single submitter ⚠
p.Phe948Leu Single submitter ⚠
p.Phe963Ile Single submitter ⚠
p.Pro1099Ser Single submitter ⚠
p.Pro1134Leu Single submitter ⚠
p.Pro1204Ser Single submitter ⚠
p.Pro1338Arg Single submitter ⚠
p.Pro1345Leu Single submitter ⚠
p.Pro351Ala Single submitter ⚠
p.Pro395Arg Single submitter ⚠
p.Pro6Thr Single submitter ⚠
p.Pro740Ser Single submitter ⚠
p.Pro830Ser Single submitter ⚠
p.Pro924Leu Single submitter ⚠
p.Ser1050Pro Single submitter ⚠
p.Ser1086Pro Single submitter ⚠
p.Ser1162Leu Single submitter ⚠
p.Ser1175Ile Single submitter ⚠
p.Ser20Thr Single submitter ⚠
p.Ser320Thr Single submitter ⚠
p.Ser390Pro Single submitter ⚠
p.Ser419Asn Single submitter ⚠
p.Ser494Leu Single submitter ⚠
p.Ser58Phe Single submitter ⚠
p.Ser619Phe Single submitter ⚠
p.Ser81Leu Single submitter ⚠
p.Ser85Leu Single submitter ⚠
p.Ser883Ala Single submitter ⚠
p.Thr1037Asn Single submitter ⚠
p.Thr1039Ala Single submitter ⚠
p.Thr1076Arg Single submitter ⚠
p.Thr1080Arg Single submitter ⚠
p.Thr1149Lys Single submitter ⚠
p.Thr1307Ala Single submitter ⚠
p.Thr190Met Single submitter ⚠
p.Thr243Asn Single submitter ⚠
p.Thr440Ile Single submitter ⚠
p.Thr654Lys Single submitter ⚠
p.Thr784Met Single submitter ⚠
p.Thr827Pro Single submitter ⚠
p.Thr856Ile Single submitter ⚠
p.Thr903Ser Single submitter ⚠
p.Tyr1125Cys Single submitter ⚠
p.Tyr1129Cys Single submitter ⚠
p.Tyr567Cys Single submitter ⚠
p.Tyr590Cys Single submitter ⚠
p.Tyr7His Single submitter ⚠
p.Tyr83Ser Single submitter ⚠
p.Val114Met Single submitter ⚠
p.Val1171Leu Single submitter ⚠
p.Val1183Met Single submitter ⚠
p.Val1205Ile Single submitter ⚠
p.Val1211Ala Single submitter ⚠
p.Val123Met Single submitter ⚠
p.Val128Met Single submitter ⚠
p.Val1326Ile Single submitter ⚠
p.Val220Ala Single submitter ⚠
p.Val359Met Single submitter ⚠
p.Val376Leu Single submitter ⚠
p.Val376Met Single submitter ⚠
p.Val536Ala Single submitter ⚠
p.Val537Met Single submitter ⚠
p.Val539Gly Single submitter ⚠
p.Val557Gly Single submitter ⚠
p.Val578Ile Single submitter ⚠
p.Val617Leu Single submitter ⚠
p.Val637Met Single submitter ⚠
p.Val65Met Single submitter ⚠
p.Val777Met Single submitter ⚠
p.Val872Ile Single submitter ⚠
p.Val947Met Single submitter ⚠
p.Val955Met Single submitter ⚠
p.Val960Ala Single submitter ⚠