AK9 — 223 ClinVar variants

All ClinVar germline AK9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →

3 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 15 Benign · 15 Likely benign · 187 Uncertain significance

Full AK9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 179

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.

AK9 p.Glu1131Lys Conflicting Single submitter
spermatogenic failure 89

Predictors lean, ClinVar uncertain 149

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 29

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

All AK9 variants

Pathogenic 3

p.Cys1626fs No assertion criteria spermatogenic failure 89
p.Cys669fs No assertion criteria spermatogenic failure 89
p.Pro815Leu No assertion criteria spermatogenic failure 89

Likely pathogenic 2

c.2747_2751+1dupAAGAGG Single submitter spermatogenic failure 89
c.3225+1G>A Single submitter spermatogenic failure 89

Conflicting classifications of pathogenicity 1

p.Glu1131Lys Single submitter spermatogenic failure 89 ⚠

Benign 15

c.1399+6A>G Single submitter
c.1495+10T>C Single submitter
c.1694-4T>C Single submitter
c.2192-3dup Single submitter
p.Asn1550= Single submitter
p.Asp514Glu Single submitter
p.Cys1326= Single submitter
p.Cys1621= Single submitter
p.Leu1632= Single submitter
p.Pro796= Single submitter
p.Pro815Ser Single submitter ⚠
p.Thr760= Single submitter
p.Trp1591Cys Single submitter ⚠
p.Tyr1759= Single submitter
p.Tyr321Cys Single submitter

Likely benign 15

c.2752-3T>C Single submitter
c.4279+4_4279+7dup Single submitter
p.Arg1563His Single submitter
p.Arg48His Single submitter
p.Asn183Ser Single submitter
p.Glu1779Asp Single submitter
p.Gly195Arg Single submitter
p.His184Arg Single submitter
p.Leu1483Ile Single submitter
p.Leu372= Single submitter
p.Met1006Leu Single submitter
p.Pro566Ser Single submitter
p.Thr1193Met Single submitter
p.Thr247= Single submitter
p.Tyr822= Single submitter

Uncertain significance 187

c.1254+12A>T Multiple submitters
c.1254+19G>A Multiple submitters
p.Ala124Thr Single submitter ⚠
p.Ala1428Asp Single submitter ⚠
p.Ala1619Thr Single submitter ⚠
p.Ala1723Thr Single submitter ⚠
p.Ala191Gly Single submitter ⚠
p.Ala273Thr Single submitter ⚠
p.Ala449Thr Single submitter ⚠
p.Ala53Gly Single submitter ⚠
p.Ala626Val Single submitter ⚠
p.Ala847Thr Single submitter ⚠
p.Ala954Ser Single submitter ⚠
p.Arg1128Gln Single submitter ⚠
p.Arg1159His Single submitter ⚠
p.Arg1205Ile Single submitter ⚠
p.Arg1215Gly Single submitter ⚠
p.Arg1262His Single submitter ⚠
p.Arg1299Trp Single submitter ⚠
p.Arg1319Cys Single submitter ⚠
p.Arg1378His Single submitter ⚠
p.Arg1402Leu Single submitter ⚠
p.Arg1513Ser Single submitter ⚠
p.Arg1635Cys Single submitter ⚠
p.Arg1635His Single submitter ⚠
p.Arg1718Gln Single submitter ⚠
p.Arg329Lys Single submitter ⚠
p.Arg380His Single submitter ⚠
p.Arg380Ser Single submitter ⚠
p.Arg508Lys Single submitter ⚠
p.Arg720Ser Single submitter ⚠
p.Arg958Gln Single submitter ⚠
p.Asn1016Asp Single submitter ⚠
p.Asn1309Ser Single submitter ⚠
p.Asn1550Lys Single submitter
p.Asn166His Single submitter ⚠
p.Asn1817Thr Single submitter ⚠
p.Asn24Lys Single submitter ⚠
p.Asn347Ser Single submitter ⚠
p.Asn619Asp Single submitter ⚠
p.Asn636Ser Single submitter ⚠
p.Asn943Asp Single submitter ⚠
p.Asn943Lys Single submitter ⚠
p.Asp1045Glu Single submitter ⚠
p.Asp1138Tyr Single submitter ⚠
p.Asp1184Asn Single submitter ⚠
p.Asp1231Gly Single submitter ⚠
p.Asp1238Asn Single submitter ⚠
p.Asp174Glu Single submitter ⚠
p.Asp1907Tyr Single submitter ⚠
p.Asp345Asn Single submitter ⚠
p.Asp345Gly Single submitter ⚠
p.Asp421Tyr Single submitter ⚠
p.Asp979Gly Single submitter ⚠
p.Cys1761Gly Single submitter
p.Cys32Arg Single submitter ⚠
p.Cys339Tyr Single submitter ⚠
p.Cys995Arg Single submitter ⚠
p.Gln1054Glu Single submitter ⚠
p.Gln1574Pro Single submitter ⚠
p.Gln206His Single submitter ⚠
p.Gln529Glu Single submitter ⚠
p.Gln599His Single submitter ⚠
p.Glu1366Gly Single submitter ⚠
p.Glu1369Gly Single submitter ⚠
p.Glu1852Lys Single submitter ⚠
p.Glu200Lys Single submitter ⚠
p.Glu215Lys Single submitter ⚠
p.Glu254Lys Single submitter ⚠
p.Glu313Lys Single submitter ⚠
p.Glu370Lys Single submitter ⚠
p.Glu702Ala Single submitter ⚠
p.Glu715Gly Single submitter ⚠
p.Glu715Lys Single submitter ⚠
p.Glu752Lys Single submitter ⚠
p.Glu860Asp Single submitter ⚠
p.Glu8Lys Single submitter ⚠
p.Glu911Gln Single submitter ⚠
p.Glu915Gly Single submitter ⚠
p.Glu953Ala Single submitter ⚠
p.Glu953Lys Single submitter ⚠
p.Gly1003Val Single submitter ⚠
p.Gly1670Glu Single submitter ⚠
p.Gly37Glu Single submitter ⚠
p.Gly484Arg Single submitter ⚠
p.Gly762Glu Single submitter ⚠
p.Gly86Ser Single submitter ⚠
p.Gly918Ser Single submitter ⚠
p.His1465Arg Single submitter ⚠
p.His1549Tyr Single submitter ⚠
p.His1895Arg Single submitter ⚠
p.Ile1017Thr Single submitter ⚠
p.Ile113Val Single submitter ⚠
p.Ile1189Leu Single submitter ⚠
p.Ile1202Thr Single submitter ⚠
p.Ile1290Met Single submitter ⚠
p.Ile1372Val Single submitter ⚠
p.Ile1414Val Single submitter ⚠
p.Ile147Val Single submitter ⚠
p.Ile1554Val Single submitter ⚠
p.Ile1706Leu Single submitter ⚠
p.Ile1748Thr Single submitter ⚠
p.Ile442Thr Single submitter ⚠
p.Ile450Met Single submitter ⚠
p.Ile495Asn Single submitter ⚠
p.Ile501Val Single submitter ⚠
p.Ile571Thr Single submitter ⚠
p.Ile633Leu Single submitter ⚠
p.Ile674Val Single submitter ⚠
p.Ile686Val Single submitter ⚠
p.Ile786Met Single submitter ⚠
p.Ile795Met Single submitter ⚠
p.Ile795Val Single submitter ⚠
p.Leu1333Phe Single submitter ⚠
p.Leu1338Phe Single submitter ⚠
p.Leu1509Ile Single submitter ⚠
p.Leu1794Arg Single submitter ⚠
p.Leu1795Val Single submitter ⚠
p.Leu318Val Single submitter ⚠
p.Leu384Phe Single submitter ⚠
p.Leu643Phe Single submitter ⚠
p.Leu714His Single submitter ⚠
p.Leu748Phe Single submitter ⚠
p.Leu79Trp Single submitter ⚠
p.Leu803Pro Single submitter ⚠
p.Lys1033Thr Single submitter ⚠
p.Lys1180Thr Single submitter ⚠
p.Lys1716Arg Single submitter ⚠
p.Lys1884Gln Single submitter ⚠
p.Lys290Glu Single submitter ⚠
p.Lys650Thr Single submitter ⚠
p.Lys699Glu Single submitter ⚠
p.Lys834Thr Single submitter ⚠
p.Lys970Glu Single submitter ⚠
p.Met1337Thr Single submitter ⚠
p.Met1461Thr Single submitter ⚠
p.Met281Val Single submitter ⚠
p.Met410Ile Single submitter ⚠
p.Met828Ile Single submitter ⚠
p.Phe1271Tyr Single submitter ⚠
p.Phe1348Leu Single submitter ⚠
p.Phe1654Ser Single submitter ⚠
p.Phe16Ser Single submitter ⚠
p.Phe1770Leu Single submitter ⚠
p.Phe944Val Single submitter ⚠
p.Pro1241Ala Single submitter ⚠
p.Pro1406Leu Single submitter ⚠
p.Pro1420Thr Single submitter
p.Pro1454Leu Single submitter ⚠
p.Pro1694Ser Single submitter ⚠
p.Pro1730Arg Single submitter ⚠
p.Pro1792Leu Single submitter ⚠
p.Pro1886Ser Single submitter
p.Pro1908Gln Single submitter
p.Pro272Gln Single submitter ⚠
p.Pro866Ser Single submitter ⚠
p.Pro880Ser Single submitter ⚠
p.Ser1346Arg Single submitter ⚠
p.Ser1661Pro Single submitter
p.Ser1830Asn Single submitter ⚠
p.Ser809Tyr Single submitter ⚠
p.Ser85Gly Single submitter ⚠
p.Thr251Ala Single submitter ⚠
p.Thr441Ala Single submitter ⚠
p.Thr564Ser Single submitter ⚠
p.Thr876Ile Single submitter ⚠
p.Thr897Ile Single submitter ⚠
p.Trp1778Arg Single submitter
p.Tyr112Cys Single submitter ⚠
p.Tyr1350Cys Single submitter ⚠
p.Tyr1350Phe Single submitter ⚠
p.Tyr1562Cys Single submitter ⚠
p.Tyr1777Asn Single submitter ⚠
p.Tyr49Cys Single submitter ⚠
p.Tyr883Cys Single submitter ⚠
p.Val1304Leu Single submitter
p.Val1417Ala Single submitter ⚠
p.Val1489Ala Single submitter ⚠
p.Val1692Leu Single submitter ⚠
p.Val419Ile Single submitter ⚠
p.Val485Ile Single submitter ⚠
p.Val574Ile Single submitter ⚠
p.Val581Ile Single submitter ⚠
p.Val59Ile Single submitter ⚠
p.Val791Met Single submitter ⚠
p.Val94Phe Single submitter
p.Val997Phe Single submitter ⚠