AKAP8L — 98 ClinVar variants
All ClinVar germline AKAP8L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
1 Conflicting · 1 Benign · 2 Likely benign · 94 Uncertain significance
Full AKAP8L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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.
Predictors lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKAP8L p.Ala321Ser Uncertain significance Single submitter
- AKAP8L p.Ala405Thr Uncertain significance Single submitter
- AKAP8L p.Ala482Thr Uncertain significance Single submitter
- AKAP8L p.Ala526Thr Uncertain significance Single submitter
- AKAP8L p.Ala562Thr Uncertain significance Single submitter
- AKAP8L p.Ala566Thr Uncertain significance Single submitter
- AKAP8L p.Ala587Thr Uncertain significance Single submitter
- AKAP8L p.Ala596Val Uncertain significance Single submitter
- AKAP8L p.Ala622Val Uncertain significance Single submitter
- AKAP8L p.Ala645Thr Uncertain significance Single submitter
- AKAP8L p.Arg121Ser Uncertain significance Single submitter
- AKAP8L p.Arg191Trp Uncertain significance Single submitter
- AKAP8L p.Arg509Trp Uncertain significance Single submitter
- AKAP8L p.Arg511Cys Uncertain significance Single submitter
- AKAP8L p.Arg628Cys Uncertain significance Single submitter
- AKAP8L p.Arg98His Uncertain significance Single submitter
- AKAP8L p.Asn254Asp Uncertain significance Single submitter
- AKAP8L p.Asp162Asn Uncertain significance Single submitter
- AKAP8L p.Asp166Asn Uncertain significance Single submitter
- AKAP8L p.Asp638Glu Uncertain significance Single submitter
- AKAP8L p.Asp89Asn Uncertain significance Single submitter
- AKAP8L p.Gln111Arg Uncertain significance Single submitter
- AKAP8L p.Gln167Lys Uncertain significance Single submitter
- AKAP8L p.Gln224Arg Uncertain significance Single submitter
- AKAP8L p.Gln559Pro Uncertain significance Single submitter
- AKAP8L p.Glu561Ala Uncertain significance Single submitter
- AKAP8L p.Gly231Ser Uncertain significance Single submitter
- AKAP8L p.Gly240Ala Uncertain significance Single submitter
- AKAP8L p.Gly245Ser Uncertain significance Single submitter
- AKAP8L p.Gly318Ala Uncertain significance Single submitter
- AKAP8L p.Gly37Ala Uncertain significance Single submitter
- AKAP8L p.Gly564Ser Uncertain significance Single submitter
- AKAP8L p.Gly598Arg Uncertain significance Single submitter
- AKAP8L p.Gly621Arg Uncertain significance Single submitter
- AKAP8L p.Gly642Ser Uncertain significance Single submitter
- AKAP8L p.Gly644Ser Uncertain significance Single submitter
- AKAP8L p.Leu408Pro Uncertain significance Single submitter
- AKAP8L p.Leu567Arg Uncertain significance Single submitter
- AKAP8L p.Lys324Asn Uncertain significance Single submitter
- AKAP8L p.Lys324Glu Uncertain significance Single submitter
- AKAP8L p.Lys537Arg Uncertain significance Single submitter
- AKAP8L p.Met212Leu Uncertain significance Single submitter
- AKAP8L p.Met383Val Uncertain significance Single submitter
- AKAP8L p.Met505Val Uncertain significance Single submitter
- AKAP8L p.Pro243Leu Uncertain significance Single submitter
- AKAP8L p.Pro607Ser Uncertain significance Single submitter
- AKAP8L p.Ser283Asn Uncertain significance Single submitter
- AKAP8L p.Ser521Phe Uncertain significance Single submitter
- AKAP8L p.Tyr400Cys Uncertain significance Single submitter
- AKAP8L p.Val420Ile Uncertain significance Single submitter
- AKAP8L p.Val436Ile Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- AKAP8L p.Arg169Cys Uncertain significance Single submitter
- AKAP8L p.Arg199Cys Uncertain significance Single submitter
- AKAP8L p.Arg208Gln Uncertain significance Single submitter
- AKAP8L p.Arg247Cys Uncertain significance Single submitter
- AKAP8L p.Arg293His Uncertain significance Single submitter
- AKAP8L p.Asp166Tyr Uncertain significance Single submitter
- AKAP8L p.Gln464Arg Uncertain significance Single submitter
- AKAP8L p.Glu320Gln Uncertain significance Single submitter
- AKAP8L p.Glu323Lys Uncertain significance Single submitter
- AKAP8L p.Glu540Asp Uncertain significance Single submitter
- AKAP8L p.Glu594Lys Uncertain significance Single submitter
- AKAP8L p.Glu610Lys Uncertain significance Single submitter
- AKAP8L p.Gly310Trp Uncertain significance Single submitter
- AKAP8L p.Gly330Arg Uncertain significance Single submitter
- AKAP8L p.Gly37Arg Uncertain significance Single submitter
- AKAP8L p.Gly421Val Uncertain significance Single submitter
- AKAP8L p.Gly48Asp Uncertain significance Single submitter
- AKAP8L p.Ile491Val Uncertain significance Single submitter
- AKAP8L p.Leu534Phe Uncertain significance Single submitter
- AKAP8L p.Leu543Val Uncertain significance Single submitter
- AKAP8L p.Lys411Asn Uncertain significance Single submitter
- AKAP8L p.Lys519Arg Uncertain significance Single submitter
- AKAP8L p.Lys533Arg Uncertain significance Single submitter
- AKAP8L p.Met153Val Uncertain significance Single submitter
- AKAP8L p.Met212Thr Uncertain significance Single submitter
- AKAP8L p.Met236Thr Uncertain significance Single submitter
- AKAP8L p.Met472Ile Uncertain significance Single submitter
- AKAP8L p.Pro605Leu Uncertain significance Single submitter
- AKAP8L p.Ser130Leu Uncertain significance Single submitter
- AKAP8L p.Ser16Leu Uncertain significance Single submitter
- AKAP8L p.Ser195Leu Uncertain significance Single submitter
- AKAP8L p.Ser326Tyr Uncertain significance Single submitter
- AKAP8L p.Ser371Arg Uncertain significance Single submitter
- AKAP8L p.Ser536Asn Uncertain significance Single submitter
- AKAP8L p.Ser93Phe Uncertain significance Single submitter
- AKAP8L p.Thr294Met Uncertain significance Single submitter
- AKAP8L p.Thr319Ile Uncertain significance Single submitter
- AKAP8L p.Trp263Ser Uncertain significance Single submitter
- AKAP8L p.Tyr144Cys Uncertain significance Single submitter
- AKAP8L p.Tyr157Cys Uncertain significance Single submitter
- AKAP8L p.Tyr197Cys Uncertain significance Single submitter
- AKAP8L p.Tyr29Phe Uncertain significance Single submitter
- AKAP8L p.Val450Met Uncertain significance Single submitter
All AKAP8L variants
Conflicting classifications of pathogenicity 1
- p.Ala351Pro Single submitter ⚠
Benign 1
- p.Cys128= Multiple submitters
Likely benign 2
- c.817-4C>T Single submitter
- p.Leu633= Single submitter
Uncertain significance 94
- p.Ala321Ser Single submitter ⚠
- p.Ala405Thr Single submitter ⚠
- p.Ala482Thr Single submitter ⚠
- p.Ala526Thr Single submitter ⚠
- p.Ala562Thr Single submitter ⚠
- p.Ala566Thr Single submitter ⚠
- p.Ala587Thr Single submitter ⚠
- p.Ala596Val Single submitter ⚠
- p.Ala622Val Single submitter ⚠
- p.Ala645Thr Single submitter ⚠
- p.Arg121Ser Single submitter ⚠
- p.Arg169Cys Single submitter ⚠
- p.Arg191Trp Single submitter ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg208Gln Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Arg293His Single submitter ⚠
- p.Arg509Trp Single submitter ⚠
- p.Arg511Cys Single submitter ⚠
- p.Arg628Cys Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asn254Asp Single submitter ⚠
- p.Asp162Asn Single submitter ⚠
- p.Asp166Asn Single submitter ⚠
- p.Asp166Tyr Single submitter ⚠
- p.Asp638Glu Single submitter ⚠
- p.Asp89Asn Single submitter ⚠
- p.Gln111Arg Single submitter ⚠
- p.Gln167Lys Single submitter ⚠
- p.Gln224Arg Single submitter ⚠
- p.Gln464Arg Single submitter ⚠
- p.Gln559Pro Single submitter ⚠
- p.Glu320Gln Single submitter ⚠
- p.Glu323Lys Single submitter ⚠
- p.Glu540Asp Single submitter ⚠
- p.Glu561Ala Single submitter ⚠
- p.Glu594Lys Single submitter ⚠
- p.Glu610Lys Single submitter ⚠
- p.Gly231Ser Single submitter ⚠
- p.Gly240Ala Single submitter ⚠
- p.Gly245Ser Single submitter ⚠
- p.Gly310Trp Single submitter ⚠
- p.Gly318Ala Single submitter ⚠
- p.Gly330Arg Single submitter ⚠
- p.Gly37Ala Single submitter ⚠
- p.Gly37Arg Single submitter ⚠
- p.Gly421Val Single submitter ⚠
- p.Gly48Asp Single submitter ⚠
- p.Gly564Ser Single submitter ⚠
- p.Gly598Arg Single submitter ⚠
- p.Gly621Arg Single submitter ⚠
- p.Gly642Ser Single submitter ⚠
- p.Gly644Ser Single submitter ⚠
- p.Ile491Val Single submitter ⚠
- p.Leu408Pro Single submitter ⚠
- p.Leu534Phe Single submitter ⚠
- p.Leu543Val Single submitter ⚠
- p.Leu567Arg Single submitter ⚠
- p.Lys324Asn Single submitter ⚠
- p.Lys324Glu Single submitter ⚠
- p.Lys411Asn Single submitter ⚠
- p.Lys519Arg Single submitter ⚠
- p.Lys533Arg Single submitter ⚠
- p.Lys537Arg Single submitter ⚠
- p.Met153Val Single submitter ⚠
- p.Met212Leu Single submitter ⚠
- p.Met212Thr Single submitter ⚠
- p.Met236Thr Single submitter ⚠
- p.Met383Val Single submitter ⚠
- p.Met472Ile Single submitter ⚠
- p.Met505Val Single submitter ⚠
- p.Pro243Leu Single submitter ⚠
- p.Pro605Leu Single submitter ⚠
- p.Pro607Ser Single submitter ⚠
- p.Ser130Leu Single submitter ⚠
- p.Ser16Leu Single submitter ⚠
- p.Ser195Leu Single submitter ⚠
- p.Ser283Asn Single submitter ⚠
- p.Ser326Tyr Single submitter ⚠
- p.Ser371Arg Single submitter ⚠
- p.Ser521Phe Single submitter ⚠
- p.Ser536Asn Single submitter ⚠
- p.Ser93Phe Single submitter ⚠
- p.Thr294Met Single submitter ⚠
- p.Thr319Ile Single submitter ⚠
- p.Trp263Ser Single submitter ⚠
- p.Tyr144Cys Single submitter ⚠
- p.Tyr157Cys Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Tyr29Phe Single submitter ⚠
- p.Tyr400Cys Single submitter ⚠
- p.Val420Ile Single submitter ⚠
- p.Val436Ile Single submitter ⚠
- p.Val450Met Single submitter ⚠