ANO8 — 217 ClinVar variants

All ClinVar germline ANO8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →

4 Benign · 9 Likely benign · 204 Uncertain significance

Full ANO8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 188

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 151

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 151

Predictors split 37

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

All ANO8 variants

Benign 4

p.Ala1146= Single submitter
p.Ser990= Single submitter
p.Ser991= Single submitter
p.Val758= Single submitter

Likely benign 9

p.Ala342= Single submitter
p.Ala5Thr Single submitter
p.Arg544= Single submitter
p.Glu588Asp Single submitter
p.Glu591Asp Single submitter
p.Gly1070= Single submitter
p.Leu1209= Single submitter
p.Val774Ile Single submitter
p.Leu353= No assertion criteria ANO8-related disorder

Uncertain significance 204

c.3332-41_3339del Single submitter
p.Ala1004Asp Single submitter ⚠
p.Ala1048Pro Single submitter ⚠
p.Ala1119Thr Single submitter ⚠
p.Ala1119Val Single submitter ⚠
p.Ala1167Thr Single submitter ⚠
p.Ala1170Asp Single submitter ⚠
p.Ala1170Thr Single submitter ⚠
p.Ala1184Thr Single submitter ⚠
p.Ala1213Val Single submitter ⚠
p.Ala122Ser Single submitter
p.Ala227Thr Single submitter ⚠
p.Ala246Ser Single submitter ⚠
p.Ala258Val Single submitter ⚠
p.Ala29Thr Single submitter ⚠
p.Ala29Val Single submitter ⚠
p.Ala2Thr Single submitter ⚠
p.Ala432Thr Single submitter ⚠
p.Ala567Glu Single submitter ⚠
p.Ala5Ser Single submitter ⚠
p.Ala863Ser Single submitter ⚠
p.Ala876Ser Single submitter ⚠
p.Ala930Thr Single submitter ⚠
p.Ala932Thr Single submitter ⚠
p.Arg1020Cys Single submitter ⚠
p.Arg1036Trp Single submitter ⚠
p.Arg1041His Single submitter ⚠
p.Arg1074Gln Single submitter ⚠
p.Arg1085Trp Single submitter ⚠
p.Arg1104Gly Single submitter ⚠
p.Arg1104Trp Single submitter ⚠
p.Arg1125His Single submitter ⚠
p.Arg128Cys Single submitter ⚠
p.Arg128Leu Single submitter ⚠
p.Arg158Gly Single submitter ⚠
p.Arg188Cys Single submitter ⚠
p.Arg215His Single submitter ⚠
p.Arg280Trp Single submitter
p.Arg304Gln Single submitter
p.Arg341Gln Single submitter ⚠
p.Arg48His Single submitter ⚠
p.Arg48Pro Single submitter ⚠
p.Arg493Trp Single submitter ⚠
p.Arg497His Single submitter ⚠
p.Arg503Trp Single submitter ⚠
p.Arg525Cys Single submitter ⚠
p.Arg564Pro Single submitter ⚠
p.Arg565Gln Single submitter ⚠
p.Arg681Trp Single submitter ⚠
p.Arg708Gly Single submitter ⚠
p.Arg888Ile Single submitter ⚠
p.Arg891Cys Single submitter ⚠
p.Arg896Cys Single submitter ⚠
p.Arg896His Single submitter ⚠
p.Arg902Pro Single submitter ⚠
p.Arg904Gln Single submitter ⚠
p.Arg904Trp Single submitter ⚠
p.Arg905Gln Single submitter ⚠
p.Arg912His Single submitter ⚠
p.Arg920Gln Single submitter ⚠
p.Arg920Trp Single submitter ⚠
p.Arg927Gln Single submitter ⚠
p.Arg962Gln Single submitter ⚠
p.Arg962Trp Single submitter ⚠
p.Asn775Ser Single submitter
p.Asp1207Asn Single submitter ⚠
p.Asp1207Gly Single submitter ⚠
p.Asp192Asn Single submitter ⚠
p.Asp586Asn Single submitter ⚠
p.Asp587Asn Single submitter ⚠
p.Asp587Tyr Single submitter ⚠
p.Asp661Ala Single submitter ⚠
p.Asp696Asn Single submitter ⚠
p.Asp73Gly Single submitter ⚠
p.Asp747Asn Single submitter ⚠
p.Asp866Asn Single submitter
p.Cys1176Ser Single submitter ⚠
p.Cys1226Arg Single submitter ⚠
p.Cys238Arg Single submitter ⚠
p.Cys610Phe Single submitter ⚠
p.Cys610Ser Single submitter ⚠
p.Gln1072Lys Single submitter ⚠
p.Gln1186His Single submitter ⚠
p.Gln1186Pro Single submitter ⚠
p.Gln174Arg Single submitter ⚠
p.Gln277Glu Single submitter ⚠
p.Gln445His Single submitter ⚠
p.Gln481Arg Single submitter ⚠
p.Gln826His Single submitter ⚠
p.Glu1094Gln Single submitter ⚠
p.Glu1094Lys Single submitter ⚠
p.Glu1099Lys Single submitter ⚠
p.Glu1107Lys Single submitter ⚠
p.Glu124Lys Single submitter ⚠
p.Glu16Lys Single submitter ⚠
p.Glu198Gly Single submitter ⚠
p.Glu324Lys Single submitter ⚠
p.Glu383Val Single submitter ⚠
p.Glu485Lys Single submitter ⚠
p.Glu499Asp Single submitter ⚠
p.Glu527Lys Single submitter ⚠
p.Glu558Ala Single submitter ⚠
p.Glu569Lys Single submitter ⚠
p.Glu589Gly Single submitter ⚠
p.Glu595Lys Single submitter ⚠
p.Glu596Gln Single submitter ⚠
p.Glu599Asp Single submitter ⚠
p.Glu601Gln Single submitter ⚠
p.Glu638Lys Single submitter ⚠
p.Glu662Ala Single submitter ⚠
p.Glu664Gly Single submitter ⚠
p.Glu664Lys Single submitter ⚠
p.Glu722Lys Single submitter ⚠
p.Glu944Lys Single submitter ⚠
p.Gly1001Arg Single submitter ⚠
p.Gly1065Ala Single submitter ⚠
p.Gly1070Cys Single submitter ⚠
p.Gly1071Arg Single submitter ⚠
p.Gly1111Glu Single submitter ⚠
p.Gly1158Arg Single submitter ⚠
p.Gly1161Val Single submitter ⚠
p.Gly314Arg Single submitter ⚠
p.Gly320Ala Single submitter ⚠
p.Gly514Arg Single submitter ⚠
p.Gly535Arg Single submitter ⚠
p.Gly542Arg Single submitter ⚠
p.Gly548Trp Single submitter
p.Gly571Arg Single submitter ⚠
p.Gly574Glu Single submitter ⚠
p.Gly605Trp Single submitter ⚠
p.Gly611Arg Single submitter ⚠
p.Gly648Arg Single submitter ⚠
p.Gly683Arg Single submitter ⚠
p.Gly690Arg Single submitter ⚠
p.Gly693Arg Single submitter ⚠
p.His436Gln Single submitter ⚠
p.His490Gln Single submitter ⚠
p.His53Gln Single submitter ⚠
p.Ile149Leu Single submitter ⚠
p.Ile205Thr Single submitter ⚠
p.Ile216Val Single submitter ⚠
p.Ile237Val Single submitter ⚠
p.Ile245Leu Single submitter
p.Ile339Thr Single submitter ⚠
p.Ile802Asn Single submitter ⚠
p.Ile982Asn Single submitter ⚠
p.Leu1021Pro Single submitter ⚠
p.Leu512Arg Single submitter
p.Leu512Gln Single submitter
p.Leu513Val Single submitter ⚠
p.Leu83Met Single submitter
p.Leu878Gln Single submitter ⚠
p.Lys389Gln Single submitter ⚠
p.Lys949Glu Single submitter ⚠
p.Met1Ile Single submitter
p.Met751Thr Single submitter ⚠
p.Met976Thr Single submitter ⚠
p.Phe209Ser Single submitter ⚠
p.Phe265Leu Single submitter ⚠
p.Phe379Tyr Single submitter ⚠
p.Pro1010Ser Single submitter ⚠
p.Pro1033Ser Single submitter ⚠
p.Pro1046His Single submitter ⚠
p.Pro1091Leu Single submitter ⚠
p.Pro1116Ser Single submitter ⚠
p.Pro1133Leu Single submitter ⚠
p.Pro1141Thr Single submitter ⚠
p.Pro1144Leu Single submitter ⚠
p.Pro1154Leu Single submitter ⚠
p.Pro1181Ala Single submitter ⚠
p.Pro1181Leu Single submitter ⚠
p.Pro1181Thr Single submitter ⚠
p.Pro1220Leu Single submitter ⚠
p.Pro23Leu Single submitter ⚠
p.Pro30Leu Single submitter ⚠
p.Pro326Thr Single submitter ⚠
p.Pro348Ser Single submitter
p.Pro674Ser Single submitter ⚠
p.Ser117Arg Single submitter ⚠
p.Ser1229Gly Single submitter ⚠
p.Ser267Phe Single submitter ⚠
p.Ser632Arg Single submitter ⚠
p.Thr1035Ile Single submitter ⚠
p.Thr11Ala Single submitter ⚠
p.Thr11Met Single submitter ⚠
p.Thr273Arg Single submitter ⚠
p.Thr655Ala Single submitter ⚠
p.Thr655Asn Single submitter ⚠
p.Thr744Met Single submitter
p.Thr954Ala Single submitter ⚠
p.Trp313Arg Single submitter ⚠
p.Tyr49His Single submitter ⚠
p.Tyr897His Single submitter ⚠
p.Val1086Leu Single submitter ⚠
p.Val268Ile Single submitter ⚠
p.Val292Met Single submitter ⚠
p.Val323Met Single submitter ⚠
p.Val369Ile Single submitter ⚠
p.Val401Leu Single submitter ⚠
p.Val483Met Single submitter ⚠
p.Val653Met Single submitter ⚠
p.Val67Leu Single submitter
p.Val753Met Single submitter
p.Val844Leu Single submitter ⚠