ABCC10 — 218 ClinVar variants

All ClinVar germline ABCC10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →

1 Benign · 14 Likely benign · 203 Uncertain significance

Full ABCC10 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 98

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

Predictors split 107

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

All ABCC10 variants

Benign 1

p.Thr1238Ile Single submitter ⚠

Likely benign 14

p.Ala504= Single submitter
p.Ala647Thr Single submitter
p.Ala793= Single submitter
p.Arg223His Single submitter ⚠
p.Arg242Gln Single submitter
p.Arg804Gln Single submitter
p.Cys238Arg Single submitter
p.Gly332Ser Single submitter
p.His252Arg Single submitter
p.His656Gln Single submitter
p.Leu894= Single submitter
p.Pro936= Single submitter
p.Thr1311Ile Single submitter
p.Val880Met Single submitter

Uncertain significance 203

p.Ala1050Ser Single submitter ⚠
p.Ala1119Thr Single submitter ⚠
p.Ala1165Thr Single submitter ⚠
p.Ala1179Thr Single submitter ⚠
p.Ala1324Pro Single submitter ⚠
p.Ala1324Ser Single submitter ⚠
p.Ala144Gly Single submitter ⚠
p.Ala144Ser Single submitter ⚠
p.Ala200Val Single submitter ⚠
p.Ala230Pro Single submitter ⚠
p.Ala430Pro Single submitter ⚠
p.Ala483Ser Single submitter ⚠
p.Ala504Val Single submitter ⚠
p.Ala603Gly Single submitter ⚠
p.Ala791Gly Single submitter ⚠
p.Ala93Ser Single submitter ⚠
p.Ala991Ser Single submitter ⚠
p.Arg1023Trp Single submitter ⚠
p.Arg1083His Single submitter ⚠
p.Arg1093Trp Single submitter ⚠
p.Arg1094Leu Single submitter ⚠
p.Arg1118Gln Single submitter ⚠
p.Arg1281Cys Single submitter ⚠
p.Arg1303Gln Single submitter ⚠
p.Arg131Gln Single submitter ⚠
p.Arg1338Trp Single submitter ⚠
p.Arg1350Lys Single submitter ⚠
p.Arg1427His Single submitter ⚠
p.Arg157Gln Single submitter ⚠
p.Arg390Gln Single submitter ⚠
p.Arg390Gly Single submitter ⚠
p.Arg443Gly Single submitter ⚠
p.Arg443His Single submitter ⚠
p.Arg470Trp Single submitter ⚠
p.Arg497Gln Single submitter ⚠
p.Arg497Trp Single submitter ⚠
p.Arg54Ser Single submitter ⚠
p.Arg67Cys Single submitter ⚠
p.Arg731Gly Single submitter ⚠
p.Arg778Trp Single submitter ⚠
p.Arg784Gly Single submitter ⚠
p.Arg801Cys Single submitter ⚠
p.Arg801Leu Single submitter ⚠
p.Arg899Trp Single submitter ⚠
p.Asn1026Ser Single submitter ⚠
p.Asn1049Ser Single submitter ⚠
p.Asn342Ser Single submitter ⚠
p.Asn559Asp Single submitter ⚠
p.Asn559His Single submitter ⚠
p.Asn559Tyr Single submitter ⚠
p.Asn705Ser Single submitter ⚠
p.Asn945Lys Single submitter ⚠
p.Asn959Ile Single submitter ⚠
p.Asn959Ser Single submitter ⚠
p.Asp569Ala Single submitter ⚠
p.Asp576Asn Single submitter ⚠
p.Asp608Asn Single submitter ⚠
p.Asp715Tyr Single submitter ⚠
p.Asp963Gly Single submitter ⚠
p.Cys1140Tyr Single submitter ⚠
p.Cys781Arg Single submitter ⚠
p.Gln1141Arg Single submitter ⚠
p.Gln1149Lys Single submitter ⚠
p.Gln1235Arg Single submitter ⚠
p.Gln1422Glu Single submitter ⚠
p.Gln354Arg Single submitter ⚠
p.Gln716Arg Single submitter ⚠
p.Gln835Arg Single submitter ⚠
p.Gln859Leu Single submitter ⚠
p.Glu1216Lys Single submitter ⚠
p.Glu718Asp Single submitter ⚠
p.Glu789Gly Single submitter ⚠
p.Glu828Asp Single submitter ⚠
p.Glu921Gln Single submitter ⚠
p.Gly1168Arg Single submitter ⚠
p.Gly1200Arg Single submitter ⚠
p.Gly1239Asp Single submitter ⚠
p.Gly1239Ser Single submitter ⚠
p.Gly1244Trp Single submitter ⚠
p.Gly1308Ser Single submitter ⚠
p.Gly1484Glu Single submitter ⚠
p.Gly1484Val Single submitter ⚠
p.Gly333Glu Single submitter ⚠
p.Gly630Arg Single submitter ⚠
p.Gly630Asp Single submitter ⚠
p.Gly665Ala Single submitter ⚠
p.Gly714Arg Single submitter ⚠
p.Gly846Glu Single submitter ⚠
p.Gly94Val Single submitter ⚠
p.Gly976Asp Single submitter ⚠
p.Gly976Ser Single submitter ⚠
p.His1001Arg Single submitter ⚠
p.His1106Asp Single submitter ⚠
p.His322Tyr Single submitter ⚠
p.His530Arg Single submitter ⚠
p.His580Gln Single submitter ⚠
p.His601Leu Single submitter ⚠
p.His763Arg Single submitter ⚠
p.Ile1045Val Single submitter ⚠
p.Ile1325Leu Single submitter ⚠
p.Ile1424Thr Single submitter ⚠
p.Ile499Met Single submitter ⚠
p.Ile521Thr Single submitter ⚠
p.Ile974Phe Single submitter ⚠
p.Ile974Val Single submitter ⚠
p.Ile98Thr Single submitter ⚠
p.Leu1057Gln Single submitter ⚠
p.Leu1100Pro Single submitter ⚠
p.Leu1100Val Single submitter ⚠
p.Leu119Val Single submitter ⚠
p.Leu1212Arg Single submitter ⚠
p.Leu1382Ser Single submitter ⚠
p.Leu1440Phe Single submitter ⚠
p.Leu175Val Single submitter ⚠
p.Leu325Phe Single submitter ⚠
p.Leu452Arg Single submitter ⚠
p.Leu547Pro Single submitter ⚠
p.Leu549Ile Single submitter ⚠
p.Leu562Met Single submitter ⚠
p.Leu749Pro Single submitter ⚠
p.Leu847Met Single submitter ⚠
p.Leu84Phe Single submitter ⚠
p.Leu884Ser Single submitter ⚠
p.Leu946Ile Single submitter ⚠
p.Lys1401Arg Single submitter ⚠
p.Lys1415Glu Single submitter ⚠
p.Met1077Val Single submitter ⚠
p.Met1158Thr Single submitter ⚠
p.Met1211Ile Single submitter ⚠
p.Met1368Thr Single submitter ⚠
p.Met1368Val Single submitter ⚠
p.Met451Thr Single submitter ⚠
p.Met528Thr Single submitter ⚠
p.Met895Thr Single submitter ⚠
p.Met931Ile Single submitter ⚠
p.Phe538Tyr Single submitter ⚠
p.Phe617Leu Single submitter ⚠
p.Phe941Leu Single submitter ⚠
p.Pro1065Arg Single submitter ⚠
p.Pro1229His Single submitter ⚠
p.Pro1272Ser Single submitter ⚠
p.Pro1343Leu Single submitter ⚠
p.Pro1470Leu Single submitter ⚠
p.Pro162Arg Single submitter ⚠
p.Pro203Ala Single submitter ⚠
p.Pro244Ser Single submitter ⚠
p.Pro376Ser Single submitter ⚠
p.Pro514Leu Single submitter ⚠
p.Pro582Leu Single submitter ⚠
p.Pro582Ser Single submitter ⚠
p.Pro752Leu Single submitter ⚠
p.Ser1030Phe Single submitter ⚠
p.Ser1062Cys Single submitter ⚠
p.Ser1105Asn Single submitter ⚠
p.Ser114Asn Single submitter ⚠
p.Ser1199Leu Single submitter ⚠
p.Ser1300Gly Single submitter ⚠
p.Ser222Leu Single submitter ⚠
p.Ser447Asn Single submitter ⚠
p.Ser73Pro Single submitter ⚠
p.Ser829Pro Single submitter ⚠
p.Ser919Phe Single submitter ⚠
p.Ser927Thr Single submitter ⚠
p.Thr1099Ile Single submitter ⚠
p.Thr1123Ile Single submitter ⚠
p.Thr1208Ile Single submitter ⚠
p.Thr1336Ser Single submitter ⚠
p.Thr1432Ile Single submitter ⚠
p.Thr1442Met Single submitter ⚠
p.Thr296Ser Single submitter ⚠
p.Thr386Pro Single submitter ⚠
p.Thr524Ser Single submitter ⚠
p.Thr843Ile Single submitter ⚠
p.Thr853Pro Single submitter ⚠
p.Thr898Met Single submitter ⚠
p.Thr926Pro Single submitter ⚠
p.Thr973Ser Single submitter ⚠
p.Trp556Cys Single submitter ⚠
p.Trp607Cys Single submitter ⚠
p.Trp822Cys Single submitter ⚠
p.Tyr226Phe Single submitter ⚠
p.Tyr285Cys Single submitter ⚠
p.Tyr501His Single submitter ⚠
p.Val1059Leu Single submitter ⚠
p.Val1059Met Single submitter ⚠
p.Val121Leu Single submitter ⚠
p.Val121Met Single submitter ⚠
p.Val1251Met Single submitter ⚠
p.Val1292Met Single submitter ⚠
p.Val1309Met Single submitter ⚠
p.Val1412Met Single submitter ⚠
p.Val1449Gly Single submitter ⚠
p.Val262Phe Single submitter ⚠
p.Val294Met Single submitter ⚠
p.Val348Ile Single submitter ⚠
p.Val419Ala Single submitter ⚠
p.Val485Ile Single submitter ⚠
p.Val515Ala Single submitter ⚠
p.Val537Ala Single submitter ⚠
p.Val635Phe Single submitter ⚠
p.Val868Met Single submitter ⚠
p.Val872Met Single submitter ⚠
p.Val970Met Single submitter ⚠