AKAP12 — 281 ClinVar variants

All ClinVar germline AKAP12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 252 flagged for review →

2 Conflicting · 12 Benign · 22 Likely benign · 245 Uncertain significance

Full AKAP12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 252

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.

AKAP12 p.Ile170Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 163

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 163

Predictors split 88

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

All AKAP12 variants

Conflicting classifications of pathogenicity 2

p.Ile170Thr Single submitter ⚠
p.Phe613Leu Single submitter ⚠

Benign 12

p.Ala1449Thr Single submitter
p.Asp1589= Single submitter
p.Gln197= Single submitter
p.Glu1082= Single submitter
p.Glu1597del Single submitter
p.Glu271Gly Single submitter ⚠
p.Gly1385= Single submitter
p.Lys1218Ile Single submitter
p.Lys177= Single submitter
p.Pro254Leu Single submitter
p.Pro798= Single submitter
p.Val377Ala Single submitter

Likely benign 22

p.Ala1557Gly Single submitter ⚠
p.Ala250Thr Single submitter
p.Ala365Val Single submitter
p.Ala897Val Single submitter
p.Arg1296Leu Single submitter
p.Glu354Lys Single submitter ⚠
p.Gly835Glu Single submitter
p.His132= Single submitter
p.Ile1130Val Single submitter
p.Ile408Val Single submitter
p.Lys376Thr Single submitter
p.Pro947Thr Single submitter
p.Ser33= Single submitter
p.Thr1016Ile Single submitter ⚠
p.Thr1090Met Single submitter ⚠
p.Thr1643Ala Single submitter
p.Thr433Met Single submitter
p.Thr991Ala Single submitter
p.Val1163Ala Single submitter
p.Val1370Leu Single submitter
p.Val1406Ala Single submitter
p.Val496Ile Single submitter ⚠

Uncertain significance 245

p.Pro15Arg Multiple submitters ⚠
p.Ala1074Val Single submitter ⚠
p.Ala1081Asp Single submitter ⚠
p.Ala1141Thr Single submitter ⚠
p.Ala1145Asp Single submitter ⚠
p.Ala1145Thr Single submitter ⚠
p.Ala1201Thr Single submitter ⚠
p.Ala129Val Single submitter ⚠
p.Ala1303Val Single submitter ⚠
p.Ala1312Gly Single submitter ⚠
p.Ala1326Thr Single submitter ⚠
p.Ala1590Ser Single submitter ⚠
p.Ala1605Pro Single submitter ⚠
p.Ala1605Val Single submitter ⚠
p.Ala167Pro Single submitter ⚠
p.Ala1758Val Single submitter ⚠
p.Ala212Ser Single submitter ⚠
p.Ala225Thr Single submitter ⚠
p.Ala250Gly Single submitter ⚠
p.Ala305Asp Single submitter ⚠
p.Ala323Thr Single submitter ⚠
p.Ala45Asp Single submitter ⚠
p.Ala611Val Single submitter ⚠
p.Ala641Thr Single submitter ⚠
p.Ala692Thr Single submitter ⚠
p.Ala836Thr Single submitter ⚠
p.Ala969Thr Single submitter ⚠
p.Ala987Thr Single submitter ⚠
p.Arg110Gly Single submitter ⚠
p.Arg118Ser Single submitter ⚠
p.Arg1220Lys Single submitter ⚠
p.Arg1296Trp Single submitter ⚠
p.Arg1563Cys Single submitter ⚠
p.Arg1563Pro Single submitter ⚠
p.Arg245Cys Single submitter ⚠
p.Arg308His Single submitter ⚠
p.Arg369Trp Single submitter ⚠
p.Arg622His Single submitter ⚠
p.Arg671Cys Single submitter ⚠
p.Arg939Gly Single submitter ⚠
p.Arg961Trp Single submitter ⚠
p.Asn1436Thr Single submitter ⚠
p.Asn1461Lys Single submitter ⚠
p.Asn1731Lys Single submitter ⚠
p.Asn1731Ser Single submitter ⚠
p.Asp121Asn Single submitter ⚠
p.Asp1247Gly Single submitter ⚠
p.Asp1289Asn Single submitter ⚠
p.Asp133His Single submitter ⚠
p.Asp1478Asn Single submitter ⚠
p.Asp1702Gly Single submitter ⚠
p.Asp319Gly Single submitter ⚠
p.Asp43Val Single submitter ⚠
p.Asp481Asn Single submitter ⚠
p.Asp50Tyr Single submitter ⚠
p.Asp782Ala Single submitter ⚠
p.Asp820Asn Single submitter ⚠
p.Asp898Asn Single submitter ⚠
p.Gln1023Arg Single submitter ⚠
p.Gln1040Leu Single submitter ⚠
p.Gln1340Lys Single submitter ⚠
p.Gln1551Glu Single submitter ⚠
p.Gln1577His Single submitter ⚠
p.Gln1770Arg Single submitter ⚠
p.Gln455Glu Single submitter ⚠
p.Gln9His Single submitter ⚠
p.Glu101del Single submitter
p.Glu1100Asp Single submitter ⚠
p.Glu1128Asp Single submitter ⚠
p.Glu1273Ala Single submitter ⚠
p.Glu1297Gly Single submitter ⚠
p.Glu13Gln Single submitter ⚠
p.Glu144Lys Single submitter ⚠
p.Glu147Lys Single submitter ⚠
p.Glu1517Asp Single submitter ⚠
p.Glu157Lys Single submitter ⚠
p.Glu1597Lys Single submitter ⚠
p.Glu1647Gln Single submitter ⚠
p.Glu1689Ala Single submitter ⚠
p.Glu17Lys Single submitter ⚠
p.Glu267Lys Single submitter ⚠
p.Glu26Lys Single submitter ⚠
p.Glu270Asp Single submitter ⚠
p.Glu271Lys Single submitter ⚠
p.Glu373Lys Single submitter ⚠
p.Glu409Asp Single submitter ⚠
p.Glu418Gly Single submitter ⚠
p.Glu429Lys Single submitter ⚠
p.Glu437Lys Single submitter ⚠
p.Glu564Lys Single submitter ⚠
p.Glu574Lys Single submitter ⚠
p.Glu575Lys Single submitter ⚠
p.Glu591Lys Single submitter ⚠
p.Glu632Gly Single submitter ⚠
p.Glu663Asp Single submitter ⚠
p.Glu781Lys Single submitter ⚠
p.Glu856Asp Single submitter ⚠
p.Glu873Lys Single submitter ⚠
p.Glu926Ala Single submitter ⚠
p.Glu938Lys Single submitter ⚠
p.Glu974Lys Single submitter ⚠
p.Glu992Lys Single submitter ⚠
p.Glu997Lys Single submitter ⚠
p.Glu998Gly Single submitter ⚠
p.Gly1208Ser Single submitter ⚠
p.Gly1308Glu Single submitter ⚠
p.Gly1669Arg Single submitter ⚠
p.Gly1722Ser Single submitter ⚠
p.Gly223Glu Single submitter ⚠
p.Gly29Ala Single submitter ⚠
p.Gly29Ser Single submitter ⚠
p.Gly306Ser Single submitter ⚠
p.Gly473Arg Single submitter ⚠
p.Gly4Glu Single submitter ⚠
p.Gly563Ser Single submitter ⚠
p.Gly582Ser Single submitter ⚠
p.Gly595Ala Single submitter ⚠
p.Gly659Arg Single submitter ⚠
p.Gly703Glu Single submitter ⚠
p.Gly703Val Single submitter ⚠
p.Gly709Glu Single submitter ⚠
p.Gly727Arg Single submitter ⚠
p.Gly799Asp Single submitter ⚠
p.Gly799Ser Single submitter ⚠
p.Gly83Val Single submitter ⚠
p.Gly86Glu Single submitter ⚠
p.Gly90Arg Single submitter ⚠
p.Ile1292Lys Single submitter ⚠
p.Ile1383Val Single submitter ⚠
p.Ile1487Val Single submitter ⚠
p.Ile1530Thr Single submitter ⚠
p.Ile1554Thr Single submitter ⚠
p.Ile1759Phe Single submitter ⚠
p.Ile252Thr Single submitter ⚠
p.Ile408Thr Single submitter ⚠
p.Ile942Thr Single submitter ⚠
p.Leu1322Met Single submitter ⚠
p.Leu1431Ser Single submitter ⚠
p.Leu1656Val Single submitter ⚠
p.Leu1661Arg Single submitter ⚠
p.Leu482Val Single submitter ⚠
p.Leu579Val Single submitter ⚠
p.Leu76Phe Single submitter ⚠
p.Lys1102Glu Single submitter ⚠
p.Lys1387Met Single submitter ⚠
p.Lys1545Gln Single submitter ⚠
p.Lys1548Glu Single submitter ⚠
p.Lys1750Arg Single submitter ⚠
p.Lys187Arg Single submitter ⚠
p.Lys266Glu Single submitter ⚠
p.Lys317Glu Single submitter ⚠
p.Lys395Thr Single submitter ⚠
p.Lys518Gln Single submitter ⚠
p.Lys637Glu Single submitter ⚠
p.Lys672Arg Single submitter ⚠
p.Lys770Ile Single submitter ⚠
p.Lys773Glu Single submitter ⚠
p.Lys808Arg Single submitter ⚠
p.Met707Thr Single submitter ⚠
p.Phe183Leu Single submitter ⚠
p.Phe296Leu Single submitter ⚠
p.Phe810Cys Single submitter ⚠
p.Pro1057Arg Single submitter ⚠
p.Pro1105Ser Single submitter ⚠
p.Pro1159Leu Single submitter ⚠
p.Pro1159Ser Single submitter ⚠
p.Pro1160Ser Single submitter ⚠
p.Pro1215Ala Single submitter ⚠
p.Pro1396Leu Single submitter ⚠
p.Pro1397Leu Single submitter ⚠
p.Pro143Arg Single submitter ⚠
p.Pro1468Arg Single submitter ⚠
p.Pro1610Leu Single submitter ⚠
p.Pro1695Leu Single submitter ⚠
p.Pro218Ala Single submitter ⚠
p.Pro284Leu Single submitter ⚠
p.Pro316Leu Single submitter ⚠
p.Pro368Ser Single submitter ⚠
p.Pro368Thr Single submitter ⚠
p.Pro459Ser Single submitter ⚠
p.Pro570Ala Single submitter ⚠
p.Pro744Leu Single submitter ⚠
p.Pro768Leu Single submitter ⚠
p.Pro819Leu Single submitter ⚠
p.Ser1004Leu Single submitter ⚠
p.Ser1133Arg Single submitter ⚠
p.Ser1174Arg Single submitter ⚠
p.Ser11Arg Single submitter ⚠
p.Ser1202Cys Single submitter ⚠
p.Ser1371Arg Single submitter ⚠
p.Ser1483Leu Single submitter ⚠
p.Ser1546Thr Single submitter ⚠
p.Ser1628Phe Single submitter ⚠
p.Ser165Phe Single submitter ⚠
p.Ser165Tyr Single submitter ⚠
p.Ser1753Asn Single submitter ⚠
p.Ser283Cys Single submitter ⚠
p.Ser28Gly Single submitter ⚠
p.Ser28Thr Single submitter ⚠
p.Ser388Leu Single submitter ⚠
p.Ser49Leu Single submitter ⚠
p.Ser566Tyr Single submitter ⚠
p.Ser645Cys Single submitter ⚠
p.Ser678Pro Single submitter ⚠
p.Ser687Thr Single submitter ⚠
p.Thr1000Pro Single submitter ⚠
p.Thr105Ile Single submitter ⚠
p.Thr1290Ile Single submitter ⚠
p.Thr1309Ala Single submitter ⚠
p.Thr1351Ala Single submitter ⚠
p.Thr1567Arg Single submitter ⚠
p.Thr1621Ala Single submitter ⚠
p.Thr1717Ile Single submitter ⚠
p.Thr1780Lys Single submitter ⚠
p.Thr423Pro Single submitter ⚠
p.Thr548Ser Single submitter ⚠
p.Thr618Met Single submitter ⚠
p.Thr723Met Single submitter ⚠
p.Thr900Met Single submitter ⚠
p.Thr933Ser Single submitter ⚠
p.Thr972Asn Single submitter ⚠
p.Val1022Ala Single submitter ⚠
p.Val1029Ile Single submitter ⚠
p.Val1093Met Single submitter ⚠
p.Val115Glu Single submitter ⚠
p.Val115Gly Single submitter ⚠
p.Val1250Met Single submitter ⚠
p.Val1252Met Single submitter ⚠
p.Val1255Ile Single submitter ⚠
p.Val1294Leu Single submitter ⚠
p.Val1370Ile Single submitter ⚠
p.Val1412Ile Single submitter ⚠
p.Val1488Ala Single submitter ⚠
p.Val1558Ile Single submitter ⚠
p.Val1660Ile Single submitter ⚠
p.Val1675Met Single submitter ⚠
p.Val1693Ala Single submitter ⚠
p.Val201Glu Single submitter ⚠
p.Val403Gly Single submitter ⚠
p.Val410Leu Single submitter ⚠
p.Val415Ala Single submitter ⚠
p.Val500Leu Single submitter ⚠
p.Val661Met Single submitter ⚠
p.Val756Ile Single submitter ⚠
p.Val846Met Single submitter ⚠