AKAP13 — 509 ClinVar variants

All ClinVar germline AKAP13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 405 flagged for review →

14 Benign · 2 Benign/Likely benign · 46 Likely benign · 447 Uncertain significance

Full AKAP13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 405

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 385

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 385

Predictors split 20

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

All AKAP13 variants

Benign 14

p.Arg2678Trp Multiple submitters
p.Glu334Lys Multiple submitters
p.Ile1260= Multiple submitters
p.Leu2461= Multiple submitters
p.Leu915= Multiple submitters
p.Lys410= Multiple submitters
p.Lys596Glu Multiple submitters
p.Pro2308= Multiple submitters
p.Ser1525Gly Multiple submitters
p.Ser639= Multiple submitters
p.Val497= Multiple submitters
p.Val845Ala Multiple submitters
p.Ser1494= Single submitter
p.Thr1072= Single submitter

Benign/Likely benign 2

p.Ala2026= Multiple submitters
p.Glu1175= Multiple submitters

Likely benign 46

p.Tyr824Phe Multiple submitters
c.4162-19269A>G Single submitter
p.Ala1041Thr Single submitter
p.Ala537Val Single submitter
p.Ala621Thr Single submitter
p.Arg1029Ser Single submitter
p.Arg1483Gln Single submitter
p.Arg1505Gln Single submitter
p.Arg1639= Single submitter
p.Arg2613Gln Single submitter
p.Arg367His Single submitter
p.Arg696Gly Single submitter
p.Asn1892Ser Single submitter
p.Asp1529Gly Single submitter
p.Asp1770Glu Single submitter
p.Asp705Asn Single submitter
p.Glu1628Lys Single submitter
p.Glu2530Lys Single submitter
p.Gly1912= Single submitter
p.Ile2715Val Single submitter
p.Leu2335= Single submitter
p.Leu2587= Single submitter
p.Leu37Ser Single submitter
p.Lys2061Glu Single submitter
p.Met302Val Single submitter
p.Met615Val Single submitter
p.Pro1219Leu Single submitter
p.Pro703Leu Single submitter
p.Pro80= Single submitter
p.Pro984Leu Single submitter
p.Ser1054= Single submitter
p.Ser1294Asn Single submitter
p.Ser1507Cys Single submitter
p.Ser2709Leu Single submitter
p.Ser644= Single submitter
p.Thr1088= Single submitter
p.Thr1427Ala Single submitter
p.Thr412Met Single submitter
p.Thr837Met Single submitter
p.Val1129Ile Single submitter
p.Val2080= Single submitter
p.Val2525Ile Single submitter
p.Val383Ala Single submitter
p.Val845Gly Single submitter
p.Val92Ile Single submitter
c.4238-43dup No assertion criteria AKAP13-related disorder

Uncertain significance 447

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1002Thr Single submitter ⚠
p.Ala1014Ser Single submitter ⚠
p.Ala1080Asp Single submitter ⚠
p.Ala1140Val Single submitter ⚠
p.Ala1251Thr Single submitter ⚠
p.Ala1268Pro Single submitter ⚠
p.Ala1275Thr Single submitter ⚠
p.Ala1295Thr Single submitter ⚠
p.Ala1375Pro Single submitter ⚠
p.Ala1387Val Single submitter ⚠
p.Ala1403Thr Single submitter ⚠
p.Ala1407Thr Single submitter ⚠
p.Ala1572Ser Single submitter ⚠
p.Ala1627Asp Single submitter ⚠
p.Ala1852Thr Single submitter ⚠
p.Ala2090Gly Single submitter
p.Ala2116Pro Single submitter ⚠
p.Ala2193Thr Single submitter ⚠
p.Ala2252Gly Single submitter
p.Ala2358Gly Single submitter ⚠
p.Ala2465Thr Single submitter ⚠
p.Ala2657Ser Single submitter ⚠
p.Ala2716Val Single submitter ⚠
p.Ala457Asp Single submitter ⚠
p.Ala549Ser Single submitter ⚠
p.Ala549Thr Single submitter ⚠
p.Ala549Val Single submitter ⚠
p.Ala591Val Single submitter ⚠
p.Ala593Gly Single submitter ⚠
p.Ala609Ser Single submitter ⚠
p.Ala614Val Single submitter ⚠
p.Ala74Gly Single submitter ⚠
p.Ala74Ser Single submitter ⚠
p.Ala854Thr Single submitter ⚠
p.Arg117Cys Single submitter
p.Arg1254Pro Single submitter ⚠
p.Arg1505Trp Single submitter ⚠
p.Arg1521Gln Single submitter ⚠
p.Arg1556His Single submitter
p.Arg1562Gln Single submitter
p.Arg1639Trp Single submitter ⚠
p.Arg164Gln Single submitter ⚠
p.Arg1703Trp Single submitter ⚠
p.Arg173Trp Single submitter
p.Arg1747His Single submitter
p.Arg1832Gln Single submitter
p.Arg1875Trp Single submitter ⚠
p.Arg190His Single submitter ⚠
p.Arg1978Trp Single submitter ⚠
p.Arg1995Gln Single submitter
p.Arg1995Trp Single submitter
p.Arg2076Lys Single submitter ⚠
p.Arg2120His Single submitter
p.Arg2200Cys Single submitter
p.Arg2229Trp Single submitter
p.Arg2234His Single submitter ⚠
p.Arg2463Gln Single submitter ⚠
p.Arg2556Lys Single submitter ⚠
p.Arg2599Cys Single submitter ⚠
p.Arg2599His Single submitter ⚠
p.Arg2601Gly Single submitter ⚠
p.Arg2603Cys Single submitter ⚠
p.Arg2608His Single submitter ⚠
p.Arg2610Lys Single submitter ⚠
p.Arg2613Gly Single submitter ⚠
p.Arg2613Trp Single submitter ⚠
p.Arg2615Gln Single submitter ⚠
p.Arg2615Leu Single submitter ⚠
p.Arg2615Trp Single submitter ⚠
p.Arg2637Trp Single submitter ⚠
p.Arg2669His Single submitter ⚠
p.Arg2670Gln Single submitter ⚠
p.Arg2678Gln Single submitter ⚠
p.Arg2682Gly Single submitter ⚠
p.Arg2696Ser Single submitter ⚠
p.Arg2696Thr Single submitter ⚠
p.Arg2731Gly Single submitter ⚠
p.Arg2772Cys Single submitter
p.Arg2793His Single submitter ⚠
p.Arg378Lys Single submitter ⚠
p.Arg42Cys Single submitter ⚠
p.Arg507Thr Single submitter ⚠
p.Arg574Leu Single submitter ⚠
p.Arg952Lys Single submitter ⚠
p.Asn1547Asp Single submitter ⚠
p.Asn1579Ser Single submitter ⚠
p.Asn1626Ile Single submitter ⚠
p.Asn1675Ser Single submitter ⚠
p.Asn1711Ser Single submitter ⚠
p.Asn1790Ser Single submitter ⚠
p.Asn1892Thr Single submitter ⚠
p.Asn2202Ser Single submitter ⚠
p.Asn2242His Single submitter ⚠
p.Asn2410Lys Single submitter ⚠
p.Asn2754Asp Single submitter ⚠
p.Asn2789Lys Single submitter ⚠
p.Asn420Asp Single submitter ⚠
p.Asn496Tyr Single submitter ⚠
p.Asn535His Single submitter ⚠
p.Asn546Lys Single submitter ⚠
p.Asn739Ser Single submitter ⚠
p.Asp1052Tyr Single submitter ⚠
p.Asp1055Asn Single submitter ⚠
p.Asp1156Asn Single submitter ⚠
p.Asp1181Asn Single submitter ⚠
p.Asp1181Gly Single submitter ⚠
p.Asp1350Asn Single submitter ⚠
p.Asp1442Val Single submitter ⚠
p.Asp1532Asn Single submitter ⚠
p.Asp1539Gly Single submitter
p.Asp1575Asn Single submitter ⚠
p.Asp1589Val Single submitter ⚠
p.Asp1778Tyr Single submitter ⚠
p.Asp1778Val Single submitter ⚠
p.Asp2043Asn Single submitter
p.Asp2235His Single submitter
p.Asp2330His Single submitter
p.Asp2396Tyr Single submitter
p.Asp24His Single submitter ⚠
p.Asp251Asn Single submitter ⚠
p.Asp406Glu Single submitter ⚠
p.Asp544Glu Single submitter ⚠
p.Asp619His Single submitter ⚠
p.Asp677Asn Single submitter ⚠
p.Asp730Glu Single submitter ⚠
p.Asp829Gly Single submitter ⚠
p.Asp929Glu Single submitter ⚠
p.Asp929Gly Single submitter ⚠
p.Cys1045Ser Single submitter ⚠
p.Cys1169Arg Single submitter ⚠
p.Cys1232Phe Single submitter ⚠
p.Cys1276Tyr Single submitter ⚠
p.Cys1399Tyr Single submitter
p.Cys1838Arg Single submitter ⚠
p.Cys2397Ser Single submitter ⚠
p.Cys272Tyr Single submitter ⚠
p.Cys73Tyr Single submitter
p.Cys934Gly Single submitter ⚠
p.Gln1098Arg Single submitter ⚠
p.Gln111Glu Single submitter ⚠
p.Gln1178Arg Single submitter ⚠
p.Gln1340His Single submitter ⚠
p.Gln1495His Single submitter ⚠
p.Gln156His Single submitter ⚠
p.Gln1664Glu Single submitter ⚠
p.Gln1672Pro Single submitter ⚠
p.Gln1869Arg Single submitter ⚠
p.Gln2591His Single submitter
p.Gln2631His Single submitter ⚠
p.Gln2760Glu Single submitter ⚠
p.Gln2760His Single submitter ⚠
p.Gln284Pro Single submitter ⚠
p.Gln305Arg Single submitter ⚠
p.Gln584Arg Single submitter ⚠
p.Gln643Glu Single submitter ⚠
p.Gln6Arg Single submitter ⚠
p.Glu1158Gly Single submitter ⚠
p.Glu1163Ala Single submitter ⚠
p.Glu1272Asp Single submitter ⚠
p.Glu1316Gln Single submitter ⚠
p.Glu1330Gly Single submitter ⚠
p.Glu1333Gly Single submitter ⚠
p.Glu1621Asp Single submitter ⚠
p.Glu1652Asp Single submitter ⚠
p.Glu2088Lys Single submitter ⚠
p.Glu249Val Single submitter
p.Glu2530Asp Single submitter ⚠
p.Glu2578Gln Single submitter ⚠
p.Glu2596Gln Single submitter ⚠
p.Glu2602Lys Single submitter
p.Glu2609Asp Single submitter ⚠
p.Glu2625Val Single submitter ⚠
p.Glu2652Gln Single submitter
p.Glu2673Asp Single submitter ⚠
p.Glu2673Val Single submitter ⚠
p.Glu2706Asp Single submitter ⚠
p.Glu2706Gly Single submitter ⚠
p.Glu2781Lys Single submitter ⚠
p.Glu337Gly Single submitter ⚠
p.Glu363Asp Single submitter ⚠
p.Glu377Gly Single submitter ⚠
p.Glu509Lys Single submitter ⚠
p.Glu558Lys Single submitter ⚠
p.Glu559Gly Single submitter ⚠
p.Glu602Lys Single submitter ⚠
p.Glu689Val Single submitter ⚠
p.Glu810Gly Single submitter ⚠
p.Glu949Ala Single submitter ⚠
p.Gly1011Arg Single submitter ⚠
p.Gly1011Asp Single submitter ⚠
p.Gly1053Glu Single submitter ⚠
p.Gly1172Ser Single submitter ⚠
p.Gly123Arg Single submitter ⚠
p.Gly123Val Single submitter ⚠
p.Gly1267Arg Single submitter ⚠
p.Gly1341Glu Single submitter ⚠
p.Gly1421Arg Single submitter
p.Gly1431Asp Single submitter ⚠
p.Gly1438Glu Single submitter ⚠
p.Gly1470Arg Single submitter ⚠
p.Gly1517Arg Single submitter ⚠
p.Gly153Glu Single submitter
p.Gly1588Glu Single submitter ⚠
p.Gly1605Ala Single submitter ⚠
p.Gly1609Ala Single submitter ⚠
p.Gly162Arg Single submitter ⚠
p.Gly1801Asp Single submitter ⚠
p.Gly1962Arg Single submitter
p.Gly200Arg Single submitter
p.Gly2023Glu Single submitter ⚠
p.Gly2186Ala Single submitter ⚠
p.Gly240Glu Single submitter ⚠
p.Gly2505Arg Single submitter ⚠
p.Gly392Arg Single submitter ⚠
p.Gly414Asp Single submitter ⚠
p.Gly485Glu Single submitter ⚠
p.Gly612Asp Single submitter ⚠
p.Gly61Ala Single submitter ⚠
p.Gly859Arg Single submitter ⚠
p.His1110Tyr Single submitter ⚠
p.His1277Tyr Single submitter ⚠
p.His1597Pro Single submitter ⚠
p.His1667Gln Single submitter ⚠
p.His1696Arg Single submitter ⚠
p.His1730Arg Single submitter ⚠
p.His196Gln Single submitter ⚠
p.His213Asp Single submitter ⚠
p.His2474Gln Single submitter ⚠
p.His262Tyr Single submitter ⚠
p.His2691Pro Single submitter ⚠
p.Ile1388Thr Single submitter
p.Ile1388Val Single submitter ⚠
p.Ile1454Val Single submitter ⚠
p.Ile1694Met Single submitter ⚠
p.Ile1694Val Single submitter ⚠
p.Ile2048Val Single submitter ⚠
p.Ile2160Leu Single submitter ⚠
p.Ile2343Thr Single submitter ⚠
p.Ile2451Thr Single submitter ⚠
p.Ile2569Thr Single submitter ⚠
p.Ile2715Thr Single submitter ⚠
p.Ile276Val Single submitter ⚠
p.Ile686Leu Single submitter ⚠
p.Ile937Leu Single submitter ⚠
p.Leu1046Val Single submitter ⚠
p.Leu1136Pro Single submitter ⚠
p.Leu1188Met Single submitter ⚠
p.Leu1269Gln Single submitter ⚠
p.Leu1433Val Single submitter ⚠
p.Leu1493Val Single submitter ⚠
p.Leu1508Val Single submitter ⚠
p.Leu1606Phe Single submitter ⚠
p.Leu1643Ser Single submitter ⚠
p.Leu184Phe Single submitter ⚠
p.Leu2029Ile Single submitter ⚠
p.Leu2073Val Single submitter ⚠
p.Leu215Val Single submitter ⚠
p.Leu2174Val Single submitter
p.Leu2376Ser Single submitter
p.Leu2551Pro Single submitter
p.Leu2558Phe Single submitter ⚠
p.Leu2562Met Single submitter ⚠
p.Leu2612Met Single submitter ⚠
p.Leu2618Phe Single submitter ⚠
p.Leu291Pro Single submitter ⚠
p.Leu300Ser Single submitter ⚠
p.Leu3Val Single submitter ⚠
p.Leu450Ser Single submitter ⚠
p.Leu486Val Single submitter ⚠
p.Leu606Ile Single submitter ⚠
p.Leu620Ser Single submitter ⚠
p.Leu818Val Single submitter ⚠
p.Leu947Ser Single submitter ⚠
p.Lys1077Gln Single submitter ⚠
p.Lys1139Asn Single submitter ⚠
p.Lys144Asn Single submitter ⚠
p.Lys1740Arg Single submitter ⚠
p.Lys1847Glu Single submitter ⚠
p.Lys2067Arg Single submitter ⚠
p.Lys2099Asn Single submitter ⚠
p.Lys2112Arg Single submitter
p.Lys2268Arg Single submitter
p.Lys2362Thr Single submitter ⚠
p.Lys2579Arg Single submitter ⚠
p.Lys2739Thr Single submitter ⚠
p.Lys2783Glu Single submitter ⚠
p.Lys2788Asn Single submitter ⚠
p.Lys505Glu Single submitter ⚠
p.Lys530Glu Single submitter ⚠
p.Lys547Gln Single submitter ⚠
p.Lys547Thr Single submitter ⚠
p.Lys768Asn Single submitter ⚠
p.Met1152Leu Single submitter ⚠
p.Met1216Ile Single submitter ⚠
p.Met1278Arg Single submitter ⚠
p.Met1348Val Single submitter ⚠
p.Met1538Val Single submitter ⚠
p.Met1584Leu Single submitter ⚠
p.Met1863Lys Single submitter ⚠
p.Met2025Thr Single submitter ⚠