ANKRD31 — 263 ClinVar variants

All ClinVar germline ANKRD31 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 231 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 3 Benign · 26 Likely benign · 230 Uncertain significance

Full ANKRD31 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 231

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 186

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 186

Predictors split 45

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

All ANKRD31 variants

Pathogenic 2

c.1565-2A>G Single submitter Genetic non-acquired premature ovarian failure
p.Gln329Ter Single submitter Genetic non-acquired premature ovarian failure

Likely pathogenic 1

p.Val395fs Single submitter inherited primary ovarian failure

Conflicting classifications of pathogenicity 1

p.Thr557Ala Single submitter ⚠

Benign 3

p.Arg1353Gln Multiple submitters
p.Asn192Ile Multiple submitters
p.Gly1640Ser Single submitter

Likely benign 26

p.Ala1085Val Single submitter
p.Ala1343= Single submitter
p.Ala1742Pro Single submitter
p.Ala280Thr Single submitter
p.Arg103Gln Single submitter
p.Arg122His Single submitter
p.Arg1894His Single submitter
p.Asn113Ser Single submitter
p.Asp279Asn Single submitter
p.Cys599Arg Single submitter
p.Glu845Asp Single submitter
p.Glu968Gln Single submitter
p.Gly443Ser Single submitter
p.Ile913Val Single submitter
p.Leu658Pro Single submitter
p.Lys1023Glu Single submitter
p.Lys1423Asn Single submitter
p.Lys687Gln Single submitter
p.Lys959Gln Single submitter
p.Pro725Ser Single submitter
p.Ser1120Asn Single submitter
p.Ser1515Asn Single submitter
p.Tyr928Cys Single submitter
p.Val474Met Single submitter
p.Arg248His No assertion criteria long QT syndrome
p.Thr229Ile No assertion criteria ANKRD31-related disorder ⚠

Uncertain significance 230

p.Ala1011Asp Single submitter ⚠
p.Ala1021Thr Single submitter ⚠
p.Ala1294Thr Single submitter ⚠
p.Ala1302Thr Single submitter ⚠
p.Ala1351Val Single submitter ⚠
p.Ala1391Val Single submitter ⚠
p.Ala1414Glu Single submitter ⚠
p.Ala189Gly Single submitter ⚠
p.Ala292Thr Single submitter ⚠
p.Ala316Thr Single submitter ⚠
p.Ala381Val Single submitter ⚠
p.Ala429Gly Single submitter ⚠
p.Ala42Val Single submitter ⚠
p.Ala669Thr Single submitter ⚠
p.Ala669Val Single submitter ⚠
p.Ala987Val Single submitter ⚠
p.Arg111Gly Single submitter ⚠
p.Arg248Leu Single submitter ⚠
p.Arg484Trp Single submitter ⚠
p.Arg602Cys Single submitter ⚠
p.Arg602His Single submitter ⚠
p.Arg882Gly Single submitter ⚠
p.Asn113Thr Single submitter ⚠
p.Asn1289Asp Single submitter ⚠
p.Asn1410Ser Single submitter ⚠
p.Asn1523Asp Single submitter ⚠
p.Asn1660Ser Single submitter ⚠
p.Asn1744Ser Single submitter ⚠
p.Asn1871Lys Single submitter ⚠
p.Asn326Thr Single submitter ⚠
p.Asn514Lys Single submitter ⚠
p.Asn565Ser Single submitter ⚠
p.Asn654Tyr Single submitter ⚠
p.Asn723Ser Single submitter ⚠
p.Asn746Ser Single submitter ⚠
p.Asn774Ser Single submitter ⚠
p.Asn873Ser Single submitter ⚠
p.Asn933Lys Single submitter ⚠
p.Asp1284Gly Single submitter ⚠
p.Asp1308Tyr Single submitter ⚠
p.Asp1319Val Single submitter ⚠
p.Asp1573Val Single submitter ⚠
p.Asp1595Asn Single submitter ⚠
p.Asp1664Asn Single submitter ⚠
p.Asp212Gly Single submitter ⚠
p.Asp247Gly Single submitter ⚠
p.Asp275Gly Single submitter ⚠
p.Asp398Asn Single submitter ⚠
p.Asp421Asn Single submitter ⚠
p.Asp587Gly Single submitter ⚠
p.Asp593Glu Single submitter ⚠
p.Asp742Glu Single submitter ⚠
p.Asp796Glu Single submitter ⚠
p.Asp814Gly Single submitter ⚠
p.Asp901Val Single submitter ⚠
p.Asp904Val Single submitter ⚠
p.Asp978Gly Single submitter ANKRD31-related disorder ⚠
p.Asp99Gly Single submitter ⚠
p.Cys1061Arg Single submitter ⚠
p.Cys114Arg Single submitter ⚠
p.Cys1360Tyr Single submitter ⚠
p.Cys1583Tyr Single submitter ⚠
p.Cys1912Phe Single submitter ⚠
p.Cys272Tyr Single submitter ⚠
p.Cys599Ser Single submitter ⚠
p.Cys614Tyr Single submitter ⚠
p.Cys802Tyr Single submitter ⚠
p.Cys992Tyr Single submitter ⚠
p.Gln1311His Single submitter ⚠
p.Gln1359His Single submitter ⚠
p.Gln1516Glu Single submitter ⚠
p.Gln1543His Single submitter ⚠
p.Gln1683Arg Single submitter ⚠
p.Gln1897Lys Single submitter ⚠
p.Gln1917His Single submitter ⚠
p.Gln350Pro Single submitter ⚠
p.Gln355Arg Single submitter ⚠
p.Gln766Glu Single submitter ⚠
p.Gln969Leu Single submitter ⚠
p.Gln98Arg Single submitter ⚠
p.Glu1598Gln Single submitter ⚠
p.Glu1653Lys Single submitter ⚠
p.Glu1778Lys Single submitter ⚠
p.Glu1794Gln Single submitter ⚠
p.Glu1845Gly Single submitter ⚠
p.Glu185Lys Single submitter ⚠
p.Glu1869Asp Single submitter ⚠
p.Glu1887Gly Single submitter ⚠
p.Glu1908Lys Single submitter ⚠
p.Glu209Asp Single submitter ⚠
p.Glu232Gly Single submitter ⚠
p.Glu2Val Single submitter ⚠
p.Glu322Asp Single submitter ⚠
p.Glu490Lys Single submitter ⚠
p.Gly1278Glu Single submitter ⚠
p.Gly1530Asp Single submitter ⚠
p.Gly1580Cys Single submitter ⚠
p.Gly165Ser Single submitter ⚠
p.Gly1696Arg Single submitter ⚠
p.Gly1734Arg Single submitter ⚠
p.Gly19Val Single submitter ⚠
p.Gly4Asp Single submitter ⚠
p.Gly544Asp Single submitter ⚠
p.Gly566Arg Single submitter ⚠
p.Gly666Val Single submitter ⚠
p.Gly708Glu Single submitter ⚠
p.Gly727Cys Single submitter ⚠
p.His1102Arg Single submitter ⚠
p.His1114Gln Single submitter ⚠
p.His1139Tyr Single submitter ⚠
p.His1217Arg Single submitter ⚠
p.His146Arg Single submitter ⚠
p.His354Tyr Single submitter ⚠
p.His499Gln Single submitter ⚠
p.His499Tyr Single submitter ⚠
p.His560Arg Single submitter ⚠
p.His660Tyr Single submitter ⚠
p.His735Tyr Single submitter ⚠
p.His768Arg Single submitter ⚠
p.His773Pro Single submitter ⚠
p.Ile1038Val Single submitter ⚠
p.Ile1090Thr Single submitter ⚠
p.Ile1126Asn Single submitter ⚠
p.Ile118Thr Single submitter ⚠
p.Ile1333Thr Single submitter ⚠
p.Ile1396Thr Single submitter ⚠
p.Ile1727Val Single submitter ⚠
p.Ile17Val Single submitter ⚠
p.Ile416Asn Single submitter ⚠
p.Ile477Val Single submitter ⚠
p.Ile673Thr Single submitter ⚠
p.Ile704Met Single submitter ⚠
p.Ile704Thr Single submitter ⚠
p.Ile728Met Single submitter ⚠
p.Ile993Val Single submitter ⚠
p.Leu1010Val Single submitter ⚠
p.Leu1123Phe Single submitter ⚠
p.Leu1298Arg Single submitter ⚠
p.Leu1622Val Single submitter ⚠
p.Leu1712Phe Single submitter ⚠
p.Leu1828Phe Single submitter ⚠
p.Leu228Phe Single submitter ⚠
p.Leu321Phe Single submitter ⚠
p.Leu709Phe Single submitter ⚠
p.Leu89His Single submitter ⚠
p.Lys1094Glu Single submitter ⚠
p.Lys1201Thr Single submitter ⚠
p.Lys1312Arg Single submitter ⚠
p.Lys1348Asn Single submitter ⚠
p.Lys1425Glu Single submitter ⚠
p.Lys1478Arg Single submitter ⚠
p.Lys1750Glu Single submitter ⚠
p.Lys211Asn Single submitter ⚠
p.Lys711Arg Single submitter ⚠
p.Lys726Thr Single submitter ⚠
p.Lys82Glu Single submitter ⚠
p.Lys84Asn Single submitter ⚠
p.Lys917Asn Single submitter ⚠
p.Met1046Val Single submitter ⚠
p.Met1421Val Single submitter ⚠
p.Met1574Thr Single submitter ⚠
p.Met203Thr Single submitter ⚠
p.Met405Val Single submitter ⚠
p.Met408Thr Single submitter ⚠
p.Met86Ile Single submitter ⚠
p.Met940Ile Single submitter ⚠
p.Phe1453Cys Single submitter ⚠
p.Phe194Leu Single submitter ⚠
p.Pro1496Leu Single submitter ⚠
p.Pro1527Leu Single submitter ⚠
p.Pro1534Leu Single submitter ⚠
p.Pro1589Arg Single submitter ⚠
p.Pro158Ser Single submitter ⚠
p.Pro1767Thr Single submitter ⚠
p.Pro1802Ser Single submitter ⚠
p.Pro1841Thr Single submitter ⚠
p.Pro1866Ala Single submitter ⚠
p.Pro409Leu Single submitter ⚠
p.Pro414Ser Single submitter ⚠
p.Pro518Leu Single submitter ⚠
p.Pro87Arg Single submitter ⚠
p.Pro996Arg Single submitter ⚠
p.Ser120Leu Single submitter ⚠
p.Ser1214Asn Single submitter ⚠
p.Ser1214Thr Single submitter ⚠
p.Ser127Leu Single submitter ⚠
p.Ser12Asn Single submitter ⚠
p.Ser12Gly Single submitter ⚠
p.Ser1370Leu Single submitter ⚠
p.Ser1379Pro Single submitter ⚠
p.Ser1452Pro Single submitter ⚠
p.Ser1471Arg Single submitter ⚠
p.Ser1604Ala Single submitter ⚠
p.Ser1636Phe Single submitter ⚠
p.Ser1680Gly Single submitter ⚠
p.Ser1684Ala Single submitter ⚠
p.Ser1702Asn Single submitter ⚠
p.Ser171Phe Single submitter ⚠
p.Ser1814Asn Single submitter ⚠
p.Ser1905Asn Single submitter ⚠
p.Ser216Cys Single submitter ⚠
p.Ser24Asn Single submitter ⚠
p.Ser263Ter Single submitter ANKRD31-related disorder
p.Ser270Leu Single submitter ⚠
p.Ser312Asn Single submitter ⚠
p.Ser375Asn Single submitter ⚠
p.Ser622Asn Single submitter ⚠
p.Ser640Ile Single submitter ⚠
p.Ser790Asn Single submitter ⚠
p.Ser870Phe Single submitter ⚠
p.Ser874Gly Single submitter ⚠
p.Ser892Tyr Single submitter ⚠
p.Ser915Cys Single submitter ⚠
p.Ser997Cys Single submitter ⚠
p.Thr1063Ala Single submitter ⚠
p.Thr1626Ala Single submitter ⚠
p.Thr1738Ala Single submitter ⚠
p.Thr1826Met Single submitter ⚠
p.Thr219Ile Single submitter ⚠
p.Thr689Ile Single submitter ⚠
p.Tyr406Phe Single submitter ⚠
p.Tyr632Cys Single submitter ⚠
p.Val1336Ile Single submitter ⚠
p.Val1385Ala Single submitter ⚠
p.Val1474Asp Single submitter ⚠
p.Val201Ala Single submitter ⚠
p.Val372Leu Single submitter ⚠
p.Val563Met Single submitter ⚠
p.Val678Ala Single submitter ⚠
p.Val763Ile Single submitter ⚠