AKNA — 282 ClinVar variants

All ClinVar germline AKNA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 247 flagged for review →

8 Benign · 24 Likely benign · 250 Uncertain significance

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

⚑ Evidence disagreements 247

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 241

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 241

Predictors split 6

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

All AKNA variants

Benign 8

p.Ala1006= Multiple submitters
p.Ala1051= Multiple submitters
p.Arg506Cys Multiple submitters
p.Leu111= Multiple submitters
p.Leu544Val Multiple submitters
p.Val962Met Multiple submitters
p.Gln1081Arg Single submitter
p.Ser537= Single submitter

Likely benign 24

p.Ala1109Val Single submitter
p.Ala1252Val Single submitter
p.Ala1355Thr Single submitter
p.Ala1361Pro Single submitter
p.Ala522Val Single submitter
p.Ala716Thr Single submitter
p.Arg256Gln Single submitter
p.Arg326Gln Single submitter
p.Arg600Gln Single submitter
p.Arg898His Single submitter
p.Arg9His Single submitter
p.Glu1410Lys Single submitter
p.Glu176Lys Single submitter
p.Gly853Arg Single submitter
p.Leu416Pro Single submitter
p.Pro273Leu Single submitter
p.Pro330Leu Single submitter
p.Ser677= Single submitter
p.Thr1104Ala Single submitter
p.Thr1330Ala Single submitter
p.Thr223= Single submitter
p.Thr488Met Single submitter
p.Thr688Met Single submitter
p.Val870Met Single submitter

Uncertain significance 250

p.Ala1053Val Multiple submitters ⚠
p.Arg351Gln Multiple submitters ⚠
c.3222-1047C>T Single submitter
p.Ala1016Thr Single submitter ⚠
p.Ala1020Val Single submitter ⚠
p.Ala1047Val Single submitter ⚠
p.Ala1125Thr Single submitter ⚠
p.Ala1197Val Single submitter ⚠
p.Ala1252Thr Single submitter ⚠
p.Ala1293Thr Single submitter ⚠
p.Ala1355Ser Single submitter ⚠
p.Ala137Pro Single submitter ⚠
p.Ala1408Val Single submitter ⚠
p.Ala1409Thr Single submitter ⚠
p.Ala1430Gly Single submitter ⚠
p.Ala339Gly Single submitter ⚠
p.Ala339Thr Single submitter ⚠
p.Ala392fs Single submitter AKNA-related autism spectrum disorder
p.Ala529Val Single submitter ⚠
p.Ala606Ser Single submitter ⚠
p.Ala606Thr Single submitter ⚠
p.Ala710Asp Single submitter ⚠
p.Ala828Val Single submitter ⚠
p.Ala918Val Single submitter ⚠
p.Arg1003Pro Single submitter ⚠
p.Arg1070Gly Single submitter ⚠
p.Arg1088Cys Single submitter ⚠
p.Arg1088His Single submitter ⚠
p.Arg1090Gln Single submitter ⚠
p.Arg1090Trp Single submitter ⚠
p.Arg1112His Single submitter ⚠
p.Arg1112Ser Single submitter ⚠
p.Arg1115Gln Single submitter ⚠
p.Arg1117Cys Single submitter ⚠
p.Arg1117His Single submitter ⚠
p.Arg1117Leu Single submitter ⚠
p.Arg1119Trp Single submitter ⚠
p.Arg1156Gln Single submitter ⚠
p.Arg1164Gln Single submitter ⚠
p.Arg1168Gln Single submitter ⚠
p.Arg116Cys Single submitter ⚠
p.Arg1216Gln Single submitter ⚠
p.Arg1245Trp Single submitter ⚠
p.Arg1299Lys Single submitter ⚠
p.Arg1383Thr Single submitter ⚠
p.Arg1404Trp Single submitter ⚠
p.Arg1413Cys Single submitter ⚠
p.Arg1413His Single submitter ⚠
p.Arg1428His Single submitter ⚠
p.Arg1434Trp Single submitter ⚠
p.Arg22Gln Single submitter ⚠
p.Arg22Trp Single submitter ⚠
p.Arg23Cys Single submitter ⚠
p.Arg256Trp Single submitter ⚠
p.Arg282Lys Single submitter ⚠
p.Arg310Gln Single submitter ⚠
p.Arg310Pro Single submitter ⚠
p.Arg31Met Single submitter ⚠
p.Arg326Leu Single submitter ⚠
p.Arg326Trp Single submitter ⚠
p.Arg329Met Single submitter ⚠
p.Arg367Gln Single submitter ⚠
p.Arg45Ile Single submitter ⚠
p.Arg582Ser Single submitter ⚠
p.Arg588His Single submitter ⚠
p.Arg60His Single submitter ⚠
p.Arg60Leu Single submitter ⚠
p.Arg617Gln Single submitter ⚠
p.Arg647Cys Single submitter ⚠
p.Arg647His Single submitter ⚠
p.Arg746Gln Single submitter ⚠
p.Arg898Cys Single submitter ⚠
p.Arg9Cys Single submitter ⚠
p.Asn345Ser Single submitter ⚠
p.Asn49Lys Single submitter ⚠
p.Asn49Ser Single submitter ⚠
p.Asp1251Val Single submitter ⚠
p.Asp126Gly Single submitter ⚠
p.Asp1391Asn Single submitter ⚠
p.Asp1426Glu Single submitter ⚠
p.Asp181Asn Single submitter ⚠
p.Asp247Glu Single submitter ⚠
p.Asp34Asn Single submitter ⚠
p.Asp672Asn Single submitter ⚠
p.Asp676Gly Single submitter ⚠
p.Asp78Asn Single submitter ⚠
p.Asp82Gly Single submitter ⚠
p.Asp82Val Single submitter ⚠
p.Asp965Asn Single submitter ⚠
p.Cys651Tyr Single submitter ⚠
p.Gln1097Pro Single submitter ⚠
p.Gln113Lys Single submitter ⚠
p.Gln1195Arg Single submitter ⚠
p.Gln1418Arg Single submitter ⚠
p.Gln20Glu Single submitter ⚠
p.Gln271Arg Single submitter ⚠
p.Gln661His Single submitter ⚠
p.Gln821Lys Single submitter ⚠
p.Gln884Glu Single submitter ⚠
p.Gln901Arg Single submitter ⚠
p.Gln990Pro Single submitter ⚠
p.Glu1025Asp Single submitter ⚠
p.Glu261Lys Single submitter ⚠
p.Glu28Lys Single submitter ⚠
p.Glu516Asp Single submitter ⚠
p.Glu665Asp Single submitter ⚠
p.Glu665Lys Single submitter ⚠
p.Glu763Gly Single submitter ⚠
p.Glu779Asp Single submitter ⚠
p.Glu779Lys Single submitter ⚠
p.Glu84Lys Single submitter ⚠
p.Glu942Lys Single submitter ⚠
p.Glu983Gly Single submitter ⚠
p.Gly1058Glu Single submitter ⚠
p.Gly1118Ser Single submitter ⚠
p.Gly1203Arg Single submitter ⚠
p.Gly1275Ser Single submitter ⚠
p.Gly1275Val Single submitter ⚠
p.Gly1278Glu Single submitter ⚠
p.Gly1278Val Single submitter ⚠
p.Gly130Arg Single submitter ⚠
p.Gly1324Arg Single submitter ⚠
p.Gly149Arg Single submitter ⚠
p.Gly149Val Single submitter ⚠
p.Gly175Arg Single submitter ⚠
p.Gly18Asp Single submitter ⚠
p.Gly225Asp Single submitter ⚠
p.Gly335Glu Single submitter ⚠
p.Gly350Ser Single submitter ⚠
p.Gly494Arg Single submitter ⚠
p.Gly627Ser Single submitter ⚠
p.Gly719Val Single submitter ⚠
p.Gly791Trp Single submitter ⚠
p.Gly793Ala Single submitter ⚠
p.Gly827Trp Single submitter ⚠
p.Gly844Arg Single submitter ⚠
p.Gly859Ser Single submitter ⚠
p.Gly894Val Single submitter ⚠
p.Gly907Asp Single submitter ⚠
p.Gly908Ser Single submitter ⚠
p.Gly909Arg Single submitter ⚠
p.Gly966Arg Single submitter ⚠
p.His1243Gln Single submitter ⚠
p.His1384Tyr Single submitter ⚠
p.His1386Leu Single submitter ⚠
p.His1431Tyr Single submitter ⚠
p.His186Gln Single submitter ⚠
p.His210Arg Single submitter ⚠
p.His275Tyr Single submitter ⚠
p.His384Gln Single submitter ⚠
p.His384Tyr Single submitter ⚠
p.His484Tyr Single submitter ⚠
p.His689Gln Single submitter ⚠
p.His749Leu Single submitter ⚠
p.Ile1149Val Single submitter ⚠
p.Ile426Val Single submitter ⚠
p.Ile502Val Single submitter ⚠
p.Ile584Leu Single submitter ⚠
p.Ile659Val Single submitter ⚠
p.Ile895Leu Single submitter ⚠
p.Leu1015Pro Single submitter ⚠
p.Leu1427Met Single submitter ⚠
p.Leu307Phe Single submitter ⚠
p.Leu338Val Single submitter ⚠
p.Leu46Phe Single submitter ⚠
p.Leu652Val Single submitter ⚠
p.Lys1301Arg Single submitter ⚠
p.Lys17Glu Single submitter ⚠
p.Lys629Arg Single submitter ⚠
p.Lys769Arg Single submitter ⚠
p.Met1019Thr Single submitter ⚠
p.Met490Lys Single submitter ⚠
p.Met762Ile Single submitter ⚠
p.Met837Ile Single submitter ⚠
p.Met855Ile Single submitter ⚠
p.Phe370Val Single submitter ⚠
p.Phe598Leu Single submitter ⚠
p.Pro1048Ala Single submitter ⚠
p.Pro1056Leu Single submitter ⚠
p.Pro1103Leu Single submitter ⚠
p.Pro1163Leu Single submitter ⚠
p.Pro1242Leu Single submitter ⚠
p.Pro1246Arg Single submitter ⚠
p.Pro1280Ser Single submitter ⚠
p.Pro1281Ala Single submitter ⚠
p.Pro1286Arg Single submitter ⚠
p.Pro1321Thr Single submitter ⚠
p.Pro1322Leu Single submitter ⚠
p.Pro1337Ser Single submitter ⚠
p.Pro1338Leu Single submitter ⚠
p.Pro1368Leu Single submitter ⚠
p.Pro1379Gln Single submitter ⚠
p.Pro197Leu Single submitter ⚠
p.Pro236Ser Single submitter ⚠
p.Pro239Leu Single submitter ⚠
p.Pro317Leu Single submitter ⚠
p.Pro378Ser Single submitter
p.Pro421Thr Single submitter ⚠
p.Pro425Thr Single submitter ⚠
p.Pro512Ala Single submitter ⚠
p.Pro512Leu Single submitter ⚠
p.Pro512Ser Single submitter ⚠
p.Pro518Arg Single submitter ⚠
p.Pro548Leu Single submitter ⚠
p.Pro691Arg Single submitter ⚠
p.Pro743Ser Single submitter ⚠
p.Pro843Ser Single submitter ⚠
p.Pro910Leu Single submitter ⚠
p.Pro970Ser Single submitter ⚠
p.Ser1123Tyr Single submitter ⚠
p.Ser1172Asn Single submitter ⚠
p.Ser1317Leu Single submitter ⚠
p.Ser1318Leu Single submitter ⚠
p.Ser1422Leu Single submitter ⚠
p.Ser196Thr Single submitter ⚠
p.Ser200Phe Single submitter ⚠
p.Ser207Asn Single submitter ⚠
p.Ser265Ala Single submitter ⚠
p.Ser342Phe Single submitter ⚠
p.Ser410Asn Single submitter ⚠
p.Ser534Arg Single submitter ⚠
p.Ser537Leu Single submitter ⚠
p.Ser85Leu Single submitter ⚠
p.Ser889Arg Single submitter ⚠
p.Thr1069Ile Single submitter ⚠
p.Thr1126Ile Single submitter ⚠
p.Thr1238Ile Single submitter ⚠
p.Thr1268Ala Single submitter ⚠
p.Thr128Ile Single submitter ⚠
p.Thr1298Met Single submitter ⚠
p.Thr1330Ile Single submitter ⚠
p.Thr234Asn Single submitter ⚠
p.Thr277Lys Single submitter ⚠
p.Thr302Met Single submitter ⚠
p.Thr325Met Single submitter ⚠
p.Thr435Met Single submitter ⚠
p.Thr539Ile Single submitter ⚠
p.Thr704Pro Single submitter ⚠
p.Thr718Ser Single submitter ⚠
p.Trp41Arg Single submitter ⚠
p.Trp71Gly Single submitter ⚠
p.Trp916Leu Single submitter ⚠
p.Tyr1131Cys Single submitter ⚠
p.Tyr1351Cys Single submitter ⚠
p.Val1406Met Single submitter ⚠
p.Val193Ile Single submitter ⚠
p.Val429Ile Single submitter ⚠
p.Val429Leu Single submitter ⚠
p.Val820Met Single submitter ⚠
p.Val98Met Single submitter ⚠