AKAP6 — 321 ClinVar variants

All ClinVar germline AKAP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 295 flagged for review →

5 Benign · 21 Likely benign · 295 Uncertain significance

Full AKAP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 295

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 244

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 244

Predictors split 51

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

All AKAP6 variants

Benign 5

p.Asn558Asp Multiple submitters
p.Glu2168= Multiple submitters
p.Glu892Lys Multiple submitters
p.Thr1516Ala Multiple submitters
p.Glu803= Single submitter

Likely benign 21

p.Ala2222Ser Single submitter
p.Ala838= Single submitter
p.Ala865= Single submitter
p.Arg1855His Single submitter
p.Arg2221Gly Single submitter
p.Arg412Lys Single submitter
p.Asn1256Ser Single submitter
p.Asn2127Ser Single submitter
p.Asp310Asn Single submitter
p.Gln1955Pro Single submitter
p.Gly1901Ser Single submitter
p.Gly2162Asp Single submitter
p.Ile1831Val Single submitter
p.Leu1810Met Single submitter ⚠
p.Phe1550Leu Single submitter
p.Ser1753= Single submitter
p.Ser2204Leu Single submitter
p.Ser281Pro Single submitter ⚠
p.Ser349Asn Single submitter ⚠
p.Val1311Leu Single submitter
p.Val614Ile Single submitter

Uncertain significance 295

p.Ala1022Val Single submitter ⚠
p.Ala123Asp Single submitter ⚠
p.Ala146Thr Single submitter ⚠
p.Ala1716Ser Single submitter ⚠
p.Ala172Thr Single submitter ⚠
p.Ala1976Asp Single submitter ⚠
p.Ala20Thr Single submitter ⚠
p.Ala2191Gly Single submitter ⚠
p.Ala2208Gly Single submitter ⚠
p.Ala2222Thr Single submitter ⚠
p.Ala2273Val Single submitter ⚠
p.Ala2291Asp Single submitter ⚠
p.Ala2291Val Single submitter ⚠
p.Ala23Asp Single submitter ⚠
p.Ala23Thr Single submitter ⚠
p.Ala279Ser Single submitter ⚠
p.Ala312Ser Single submitter ⚠
p.Ala314Ser Single submitter ⚠
p.Ala452Thr Single submitter ⚠
p.Ala731Val Single submitter ⚠
p.Ala776Val Single submitter ⚠
p.Ala920Thr Single submitter ⚠
p.Arg1069Cys Single submitter ⚠
p.Arg1069His Single submitter ⚠
p.Arg1069Ser Single submitter ⚠
p.Arg1133Gln Single submitter ⚠
p.Arg1142Gln Single submitter ⚠
p.Arg1151Gln Single submitter ⚠
p.Arg1187His Single submitter ⚠
p.Arg1538Cys Single submitter ⚠
p.Arg1538His Single submitter ⚠
p.Arg1538Ser Single submitter ⚠
p.Arg1638Gly Single submitter ⚠
p.Arg1721His Single submitter ⚠
p.Arg1818Ser Single submitter ⚠
p.Arg1876Cys Single submitter ⚠
p.Arg1958Lys Single submitter ⚠
p.Arg270Gln Single submitter ⚠
p.Arg270Pro Single submitter ⚠
p.Arg509Pro Single submitter ⚠
p.Arg695Ser Single submitter ⚠
p.Arg743Ser Single submitter ⚠
p.Arg85Gln Single submitter ⚠
p.Arg862Gln Single submitter ⚠
p.Arg862Gly Single submitter ⚠
p.Asn1200Ser Single submitter ⚠
p.Asn1236Asp Single submitter ⚠
p.Asn1267Ser Single submitter ⚠
p.Asn1293Ser Single submitter ⚠
p.Asn1300Lys Single submitter ⚠
p.Asn1344Ser Single submitter ⚠
p.Asn1444Ser Single submitter ⚠
p.Asn1585Asp Single submitter ⚠
p.Asn1606Ile Single submitter ⚠
p.Asn1606Ser Single submitter ⚠
p.Asn1681Ile Single submitter ⚠
p.Asn1715Lys Single submitter ⚠
p.Asn1838Ser Single submitter ⚠
p.Asn1862Lys Single submitter ⚠
p.Asn2058Ser Single submitter ⚠
p.Asn2079Lys Single submitter ⚠
p.Asn2269Ile Single submitter ⚠
p.Asn2269Thr Single submitter ⚠
p.Asn408Lys Single submitter ⚠
p.Asn469Ser Single submitter ⚠
p.Asp1203Glu Single submitter ⚠
p.Asp1404Glu Single submitter ⚠
p.Asp1505Val Single submitter ⚠
p.Asp1576Asn Single submitter ⚠
p.Asp15His Single submitter ⚠
p.Asp1749Glu Single submitter ⚠
p.Asp1752Asn Single submitter ⚠
p.Asp1998Val Single submitter ⚠
p.Asp2000Tyr Single submitter ⚠
p.Asp2000Val Single submitter ⚠
p.Asp2044Val Single submitter ⚠
p.Asp2065Val Single submitter ⚠
p.Asp2140Gly Single submitter ⚠
p.Asp2289Glu Single submitter ⚠
p.Asp242Gly Single submitter ⚠
p.Asp375Asn Single submitter ⚠
p.Asp382Tyr Single submitter ⚠
p.Asp430Asn Single submitter ⚠
p.Asp430Tyr Single submitter ⚠
p.Asp677Tyr Single submitter ⚠
p.Asp767Val Single submitter ⚠
p.Asp949Tyr Single submitter ⚠
p.Asp987Asn Single submitter ⚠
p.Cys1453Ser Single submitter ⚠
p.Cys1509Arg Single submitter ⚠
p.Cys1612Arg Single submitter ⚠
p.Cys1769Trp Single submitter ⚠
p.Cys1789Ser Single submitter ⚠
p.Cys2019Phe Single submitter ⚠
p.Cys2159Ser Single submitter ⚠
p.Cys364Trp Single submitter ⚠
p.Cys458Tyr Single submitter ⚠
p.Cys508Arg Single submitter ⚠
p.Gln1108Glu Single submitter ⚠
p.Gln1643His Single submitter ⚠
p.Gln179Pro Single submitter ⚠
p.Gln520Glu Single submitter ⚠
p.Gln607Lys Single submitter ⚠
p.Gln769Ter Single submitter
p.Gln921Glu Single submitter ⚠
p.Glu1036Ala Single submitter ⚠
p.Glu1054Gly Single submitter ⚠
p.Glu1111Gly Single submitter ⚠
p.Glu1363Asp Single submitter ⚠
p.Glu1379Ala Single submitter ⚠
p.Glu1877Lys Single submitter ⚠
p.Glu189Asp Single submitter ⚠
p.Glu2052Lys Single submitter ⚠
p.Glu2080Lys Single submitter ⚠
p.Glu2167Val Single submitter ⚠
p.Glu2178Lys Single submitter ⚠
p.Glu2184Lys Single submitter ⚠
p.Glu2243Gln Single submitter ⚠
p.Glu797Lys Single submitter ⚠
p.Glu903Asp Single submitter ⚠
p.Glu904Gln Single submitter ⚠
p.Glu967Lys Single submitter ⚠
p.Gly1026Ser Single submitter ⚠
p.Gly1092Val Single submitter ⚠
p.Gly1269Ala Single submitter ⚠
p.Gly1434Ser Single submitter ⚠
p.Gly1575Val Single submitter ⚠
p.Gly1579Arg Single submitter ⚠
p.Gly1626Ser Single submitter ⚠
p.Gly1794Arg Single submitter ⚠
p.Gly1924Val Single submitter ⚠
p.Gly2026fs Single submitter AKAP6-related disorder
p.Gly2166Ala Single submitter ⚠
p.Gly286Asp Single submitter ⚠
p.Gly330Ala Single submitter ⚠
p.Gly407Asp Single submitter ⚠
p.Gly61Ala Single submitter ⚠
p.Gly783Trp Single submitter ⚠
p.His1146Arg Single submitter ⚠
p.His1301Tyr Single submitter ⚠
p.His1449Tyr Single submitter ⚠
p.His1707Gln Single submitter ⚠
p.His1868Leu Single submitter ⚠
p.His354Asp Single submitter ⚠
p.His59Tyr Single submitter ⚠
p.Ile1167Thr Single submitter ⚠
p.Ile1366Asn Single submitter ⚠
p.Ile141Thr Single submitter ⚠
p.Ile1618Val Single submitter ⚠
p.Ile1650Met Single submitter ⚠
p.Ile1711Phe Single submitter ⚠
p.Ile2152Thr Single submitter ⚠
p.Ile282Met Single submitter ⚠
p.Ile704Met Single submitter ⚠
p.Ile704Val Single submitter ⚠
p.Ile712Val Single submitter ⚠
p.Ile720Val Single submitter ⚠
p.Ile777Met Single submitter ⚠
p.Ile777Val Single submitter ⚠
p.Ile864Thr Single submitter ⚠
p.Leu1030Pro Single submitter ⚠
p.Leu1035Arg Single submitter ⚠
p.Leu1382Phe Single submitter ⚠
p.Leu1409Ile Single submitter ⚠
p.Leu1478Arg Single submitter ⚠
p.Leu1499Arg Single submitter ⚠
p.Leu1756Phe Single submitter ⚠
p.Leu2231Phe Single submitter ⚠
p.Leu437Phe Single submitter ⚠
p.Leu566Phe Single submitter ⚠
p.Leu654Pro Single submitter ⚠
p.Leu693Gln Single submitter ⚠
p.Leu883Phe Single submitter ⚠
p.Lys1050Glu Single submitter ⚠
p.Lys1194Arg Single submitter ⚠
p.Lys1548Asn Single submitter ⚠
p.Lys1708Asn Single submitter ⚠
p.Lys1816Glu Single submitter ⚠
p.Lys1829Arg Single submitter ⚠
p.Lys1963Asn Single submitter ⚠
p.Lys2014Asn Single submitter ⚠
p.Lys2276Glu Single submitter ⚠
p.Lys2290Gln Single submitter ⚠
p.Lys490Arg Single submitter ⚠
p.Lys605Arg Single submitter ⚠
p.Lys646Arg Single submitter ⚠
p.Lys869Met Single submitter ⚠
p.Met1006Lys Single submitter ⚠
p.Met1356Thr Single submitter ⚠
p.Met1482Val Single submitter ⚠
p.Met1484Thr Single submitter ⚠
p.Met1553Ile Single submitter ⚠
p.Met1672Ile Single submitter ⚠
p.Met19Val Single submitter ⚠
p.Met2011Leu Single submitter ⚠
p.Met765Val Single submitter ⚠
p.Met812Leu Single submitter ⚠
p.Met812Val Single submitter ⚠
p.Met950Thr Single submitter ⚠
p.Phe1100Cys Single submitter ⚠
p.Phe1504Ser Single submitter ⚠
p.Phe401Leu Single submitter ⚠
p.Pro10Ser Single submitter ⚠
p.Pro1244Leu Single submitter ⚠
p.Pro1247Leu Single submitter ⚠
p.Pro1497Ser Single submitter ⚠
p.Pro1645Thr Single submitter ⚠
p.Pro1712Ala Single submitter ⚠
p.Pro1910Leu Single submitter AKAP6-related Intellectual Disability ⚠
p.Pro2009Leu Single submitter ⚠
p.Pro2175Leu Single submitter ⚠
p.Pro2216Arg Single submitter ⚠
p.Pro2246Ser Single submitter ⚠
p.Pro2297Ser Single submitter ⚠
p.Pro319Gln Single submitter ⚠
p.Pro498Ser Single submitter ⚠
p.Pro530Ser Single submitter ⚠
p.Pro544Ser Single submitter ⚠
p.Pro556Ser Single submitter ⚠
p.Pro576Leu Single submitter ⚠
p.Pro594Leu Single submitter ⚠
p.Pro729Ser Single submitter ⚠
p.Pro807Leu Single submitter ⚠
p.Ser1066Leu Single submitter ⚠
p.Ser1067Asn Single submitter ⚠
p.Ser1076Gly Single submitter ⚠
p.Ser1255Asn Single submitter ⚠
p.Ser1323Asn Single submitter ⚠
p.Ser1335Tyr Single submitter ⚠
p.Ser1431Leu Single submitter ⚠
p.Ser1543Arg Single submitter ⚠
p.Ser1543Asn Single submitter ⚠
p.Ser1602Tyr Single submitter ⚠
p.Ser1701Leu Single submitter ⚠
p.Ser1822Asn Single submitter ⚠
p.Ser1954Phe Single submitter ⚠
p.Ser2010Arg Single submitter ⚠
p.Ser2111Leu Single submitter ⚠
p.Ser2173Arg Single submitter ⚠
p.Ser2201Cys Single submitter ⚠
p.Ser271Ile Single submitter ⚠
p.Ser329Leu Single submitter ⚠
p.Ser561Arg Single submitter ⚠
p.Ser581Gly Single submitter ⚠
p.Ser610Tyr Single submitter ⚠
p.Ser745Pro Single submitter ⚠
p.Ser929Pro Single submitter ⚠
p.Thr1321Asn Single submitter ⚠
p.Thr1372Ala Single submitter ⚠
p.Thr1374Ile Single submitter ⚠
p.Thr1395Asn Single submitter ⚠
p.Thr1594Ile Single submitter ⚠
p.Thr1760Ser Single submitter ⚠
p.Thr177Ala Single submitter ⚠
p.Thr1790Pro Single submitter ⚠
p.Thr1804Ala Single submitter ⚠
p.Thr1847Asn Single submitter ⚠
p.Thr1874Ile Single submitter ⚠
p.Thr1947Ser Single submitter ⚠
p.Thr1975Ile Single submitter ⚠
p.Thr1978Ile Single submitter ⚠
p.Thr2135Ser Single submitter ⚠
p.Thr2210Ala Single submitter ⚠
p.Thr276Met Single submitter ⚠
p.Thr322Ala Single submitter ⚠
p.Thr385Met Single submitter ⚠
p.Thr515Ala Single submitter ⚠
p.Thr546Ile Single submitter ⚠
p.Thr75Asn Single submitter ⚠
p.Thr802Ala Single submitter ⚠
p.Thr80Ser Single submitter ⚠
p.Thr88Ala Single submitter ⚠
p.Thr906Ala Single submitter ⚠
p.Thr938Ala Single submitter ⚠
p.Trp794Cys Single submitter ⚠
p.Tyr1286His Single submitter ⚠
p.Tyr1603fs Single submitter
p.Val100Met Single submitter ⚠
p.Val1020Ile Single submitter ⚠
p.Val1028Ile Single submitter ⚠
p.Val1182Ile Single submitter ⚠
p.Val1201Ala Single submitter ⚠
p.Val1386Ala Single submitter ⚠
p.Val1408Leu Single submitter ⚠
p.Val1440Ile Single submitter ⚠
p.Val1464Glu Single submitter ⚠
p.Val1957Ile Single submitter ⚠
p.Val2277Leu Single submitter ⚠
p.Val344Ala Single submitter ⚠
p.Val440Ile Single submitter ⚠
p.Val471Ala Single submitter ⚠
p.Val505Ala Single submitter ⚠
p.Val696Leu Single submitter ⚠
p.Val829Ile Single submitter ⚠
p.Val900Leu Single submitter ⚠