AKAP8 — 175 ClinVar variants
All ClinVar germline AKAP8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
1 Conflicting · 14 Benign · 1 Benign/Likely benign · 23 Likely benign · 136 Uncertain significance
Full AKAP8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
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 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKAP8 p.Ala40Thr Uncertain significance Multiple submitters
- AKAP8 p.Ala264Val Uncertain significance Single submitter
- AKAP8 p.Ala333Thr Uncertain significance Single submitter
- AKAP8 p.Ala333Val Uncertain significance Single submitter
- AKAP8 p.Ala40Ser Uncertain significance Single submitter
- AKAP8 p.Ala49Thr Uncertain significance Single submitter
- AKAP8 p.Ala575Val Uncertain significance Single submitter
- AKAP8 p.Ala579Thr Uncertain significance Single submitter
- AKAP8 p.Ala584Glu Uncertain significance Single submitter
- AKAP8 p.Ala672Gly Uncertain significance Single submitter
- AKAP8 p.Ala69Gly Uncertain significance Single submitter
- AKAP8 p.Arg178Trp Uncertain significance Single submitter
- AKAP8 p.Arg194Ser Uncertain significance Single submitter
- AKAP8 p.Arg233Gln Uncertain significance Single submitter
- AKAP8 p.Arg242Gln Uncertain significance Single submitter
- AKAP8 p.Arg285Trp Uncertain significance Single submitter
- AKAP8 p.Arg419Gln Uncertain significance Single submitter
- AKAP8 p.Arg497Trp Uncertain significance Single submitter
- AKAP8 p.Arg666Lys Uncertain significance Single submitter
- AKAP8 p.Arg99His Uncertain significance Single submitter
- AKAP8 p.Asn163Ser Uncertain significance Single submitter
- AKAP8 p.Asn36Ser Uncertain significance Single submitter
- AKAP8 p.Asn529Ser Uncertain significance Single submitter
- AKAP8 p.Asp153Asn Uncertain significance Single submitter
- AKAP8 p.Asp184Gly Uncertain significance Single submitter
- AKAP8 p.Asp184Val Uncertain significance Single submitter
- AKAP8 p.Asp284Tyr Uncertain significance Single submitter
- AKAP8 p.Asp299Gly Uncertain significance Single submitter
- AKAP8 p.Asp485Asn Uncertain significance Single submitter
- AKAP8 p.Cys173Trp Uncertain significance Single submitter
- AKAP8 p.Gln279His Uncertain significance Single submitter
- AKAP8 p.Gln3His Uncertain significance Single submitter
- AKAP8 p.Glu218Val Uncertain significance Single submitter
- AKAP8 p.Glu568Asp Uncertain significance Single submitter
- AKAP8 p.Glu607Ala Uncertain significance Single submitter
- AKAP8 p.Gly181Asp Uncertain significance Single submitter
- AKAP8 p.Gly191Ser Uncertain significance Single submitter
- AKAP8 p.Gly274Arg Uncertain significance Single submitter
- AKAP8 p.Gly601Arg Uncertain significance Single submitter
- AKAP8 p.Gly616Asp Uncertain significance Single submitter
- AKAP8 p.Gly81Ser Uncertain significance Single submitter
- AKAP8 p.Gly9Arg Uncertain significance Single submitter
- AKAP8 p.His500Arg Uncertain significance Single submitter
- AKAP8 p.His506Arg Uncertain significance Single submitter
- AKAP8 p.His76Tyr Uncertain significance Single submitter
- AKAP8 p.Leu247Arg Uncertain significance Single submitter
- AKAP8 p.Leu310Val Uncertain significance Single submitter
- AKAP8 p.Leu527Val Uncertain significance Single submitter
- AKAP8 p.Lys368Arg Uncertain significance Single submitter
- AKAP8 p.Met205Thr Uncertain significance Single submitter
- AKAP8 p.Met205Val Uncertain significance Single submitter
- AKAP8 p.Met555Val Uncertain significance Single submitter
- AKAP8 p.Met77Val Uncertain significance Single submitter
- AKAP8 p.Pro130Ala Uncertain significance Single submitter
- AKAP8 p.Pro145Ser Uncertain significance Single submitter
- AKAP8 p.Pro492Leu Uncertain significance Single submitter
- AKAP8 p.Pro570Thr Uncertain significance Single submitter
- AKAP8 p.Pro597Leu Uncertain significance Single submitter
- AKAP8 p.Pro609Ser Uncertain significance Single submitter
- AKAP8 p.Pro82Ser Uncertain significance Single submitter
- AKAP8 p.Ser12Asn Uncertain significance Single submitter
- AKAP8 p.Ser171Gly Uncertain significance Single submitter
- AKAP8 p.Ser216Phe Uncertain significance Single submitter
- AKAP8 p.Ser221Pro Uncertain significance Single submitter
- AKAP8 p.Ser241Gly Uncertain significance Single submitter
- AKAP8 p.Ser323Gly Uncertain significance Single submitter
- AKAP8 p.Ser353Thr Uncertain significance Single submitter
- AKAP8 p.Ser393Tyr Uncertain significance Single submitter
- AKAP8 p.Thr222Arg Uncertain significance Single submitter
- AKAP8 p.Thr270Ile Uncertain significance Single submitter
- AKAP8 p.Thr569Pro Uncertain significance Single submitter
- AKAP8 p.Val258Leu Uncertain significance Single submitter
- AKAP8 p.Val367Met Uncertain significance Single submitter
- AKAP8 p.Val502Met Uncertain significance Single submitter
- AKAP8 p.Val581Ala Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
- AKAP8 p.Arg206His Benign Multiple submitters
- AKAP8 p.Arg320Gln Likely benign Multiple submitters
- AKAP8 p.Gly167Glu Benign Multiple submitters
- AKAP8 p.Ala10Val Uncertain significance Single submitter
- AKAP8 p.Ala604Asp Uncertain significance Single submitter
- AKAP8 p.Ala674Val Uncertain significance Single submitter
- AKAP8 p.Ala72Asp Uncertain significance Single submitter
- AKAP8 p.Ala74Val Uncertain significance Single submitter
- AKAP8 p.Arg122Trp Uncertain significance Single submitter
- AKAP8 p.Arg147Cys Uncertain significance Single submitter
- AKAP8 p.Arg147His Uncertain significance Single submitter
- AKAP8 p.Arg162Cys Uncertain significance Single submitter
- AKAP8 p.Arg178Gln Uncertain significance Single submitter
- AKAP8 p.Arg188Trp Uncertain significance Single submitter
- AKAP8 p.Arg190Gln Uncertain significance Single submitter
- AKAP8 p.Arg194Cys Uncertain significance Single submitter
- AKAP8 p.Arg198Gln Uncertain significance Single submitter
- AKAP8 p.Arg233Trp Uncertain significance Single submitter
- AKAP8 p.Arg242Trp Uncertain significance Single submitter
- AKAP8 p.Arg277His Uncertain significance Single submitter
- AKAP8 p.Arg281Gln Uncertain significance Single submitter
- AKAP8 p.Arg283Gln Uncertain significance Single submitter
- AKAP8 p.Arg287Gln Uncertain significance Single submitter
- AKAP8 p.Arg295Cys Benign Single submitter
- AKAP8 p.Arg305Gln Uncertain significance Single submitter
- AKAP8 p.Arg320Gly Uncertain significance Single submitter
- AKAP8 p.Arg320Trp Uncertain significance Single submitter
- AKAP8 p.Arg371Thr Uncertain significance Single submitter
- AKAP8 p.Arg381Trp Uncertain significance Single submitter
- AKAP8 p.Arg383His Uncertain significance Single submitter
- AKAP8 p.Arg419Trp Uncertain significance Single submitter
- AKAP8 p.Arg447Gln Uncertain significance Single submitter
- AKAP8 p.Asp378Glu Uncertain significance Single submitter
- AKAP8 p.Asp386Asn Uncertain significance Single submitter
- AKAP8 p.Gln406Arg Uncertain significance Single submitter
- AKAP8 p.Gln491Arg Uncertain significance Single submitter
- AKAP8 p.Glu343Gln Uncertain significance Single submitter
- AKAP8 p.Glu365Lys Uncertain significance Single submitter
- AKAP8 p.Glu403Lys Uncertain significance Single submitter
- AKAP8 p.Glu513Gln Uncertain significance Single submitter
- AKAP8 p.Glu592Val Uncertain significance Single submitter
- AKAP8 p.Glu622Lys Uncertain significance Single submitter
- AKAP8 p.Glu636Lys Uncertain significance Single submitter
- AKAP8 p.Glu654Lys Uncertain significance Single submitter
- AKAP8 p.Gly111Arg Uncertain significance Single submitter
- AKAP8 p.Gly116Trp Uncertain significance Single submitter
- AKAP8 p.Gly191Arg Uncertain significance Single submitter
- AKAP8 p.Gly191Asp Uncertain significance Single submitter
- AKAP8 p.Gly266Asp Uncertain significance Single submitter
- AKAP8 p.Gly466Glu Uncertain significance Single submitter
- AKAP8 p.Gly4Cys Uncertain significance Single submitter
- AKAP8 p.Ile93Val Uncertain significance Single submitter
- AKAP8 p.Leu487Val Uncertain significance Single submitter
- AKAP8 p.Leu495Phe Uncertain significance Single submitter
- AKAP8 p.Phe131Leu Uncertain significance Single submitter
- AKAP8 p.Phe156Leu Uncertain significance Single submitter
- AKAP8 p.Phe296Cys Likely benign Single submitter
- AKAP8 p.Pro15Leu Uncertain significance Single submitter
- AKAP8 p.Pro298Gln Uncertain significance Single submitter
- AKAP8 p.Pro459Thr Conflicting Single submitter
- AKAP8 p.Pro461Leu Uncertain significance Single submitter
- AKAP8 p.Ser422Arg Uncertain significance Single submitter
- AKAP8 p.Ser644Ile Uncertain significance Single submitter
- AKAP8 p.Thr43Ile Uncertain significance Single submitter
- AKAP8 p.Thr610Met Likely benign Single submitter
- AKAP8 p.Thr633Met Uncertain significance Single submitter
- AKAP8 p.Val589Ile Uncertain significance Single submitter
- AKAP8 p.Val639Ile Uncertain significance Single submitter
All AKAP8 variants
Conflicting classifications of pathogenicity 1
- p.Pro459Thr Single submitter ⚠
Benign 14
- c.1072+7A>C Multiple submitters
- p.Ala615= Multiple submitters
- p.Arg206His Multiple submitters ⚠
- p.Gly167Glu Multiple submitters ⚠
- p.Leu350Phe Multiple submitters
- p.Pro298= Multiple submitters
- c.1160+8G>A Single submitter
- p.Arg295Cys Single submitter ⚠
- p.Gly237= Single submitter
- p.Gly39= Single submitter
- p.Leu235= Single submitter
- p.Leu350= Single submitter
- p.Pro240His Single submitter
- p.Val321= Single submitter
Benign/Likely benign 1
- p.Lys368= Multiple submitters
Likely benign 23
- p.Arg320Gln Multiple submitters ⚠
- p.Asp687= Multiple submitters
- p.Glu226Lys Multiple submitters
- p.Val258Met Multiple submitters
- c.1160+7C>T Single submitter
- p.Ala21Thr Single submitter
- p.Ala61Thr Single submitter
- p.Ala674Thr Single submitter
- p.Arg355Lys Single submitter
- p.Gly113Ser Single submitter
- p.Gly114Ser Single submitter
- p.Gly257Ser Single submitter
- p.Gly616Ser Single submitter
- p.Ile476= Single submitter
- p.Phe296Cys Single submitter ⚠
- p.Pro245= Single submitter
- p.Ser239= Single submitter
- p.Ser501= Single submitter
- p.Thr316= Single submitter
- p.Thr610Met Single submitter ⚠
- p.Tyr229= Single submitter
- p.Val321Ala Single submitter
- p.Gly263Arg No assertion criteria long QT syndrome
Uncertain significance 136
- p.Ala40Thr Multiple submitters ⚠
- p.Ala10Val Single submitter ⚠
- p.Ala264Val Single submitter ⚠
- p.Ala333Thr Single submitter ⚠
- p.Ala333Val Single submitter ⚠
- p.Ala40Ser Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Ala575Val Single submitter ⚠
- p.Ala579Thr Single submitter ⚠
- p.Ala584Glu Single submitter ⚠
- p.Ala604Asp Single submitter ⚠
- p.Ala672Gly Single submitter ⚠
- p.Ala674Val Single submitter ⚠
- p.Ala69Gly Single submitter ⚠
- p.Ala72Asp Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Arg122Trp Single submitter ⚠
- p.Arg147Cys Single submitter ⚠
- p.Arg147His Single submitter ⚠
- p.Arg162Cys Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg178Trp Single submitter ⚠
- p.Arg188Trp Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg194Ser Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg233Gln Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg242Trp Single submitter ⚠
- p.Arg277His Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg285Trp Single submitter ⚠
- p.Arg287Gln Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Arg320Gly Single submitter ⚠
- p.Arg320Trp Single submitter ⚠
- p.Arg371Thr Single submitter ⚠
- p.Arg381Trp Single submitter ⚠
- p.Arg383His Single submitter ⚠
- p.Arg419Gln Single submitter ⚠
- p.Arg419Trp Single submitter ⚠
- p.Arg447Gln Single submitter ⚠
- p.Arg497Trp Single submitter ⚠
- p.Arg666Lys Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asn163Ser Single submitter ⚠
- p.Asn36Ser Single submitter ⚠
- p.Asn529Ser Single submitter ⚠
- p.Asp153Asn Single submitter ⚠
- p.Asp184Gly Single submitter ⚠
- p.Asp184Val Single submitter ⚠
- p.Asp284Tyr Single submitter ⚠
- p.Asp299Gly Single submitter ⚠
- p.Asp378Glu Single submitter ⚠
- p.Asp386Asn Single submitter ⚠
- p.Asp485Asn Single submitter ⚠
- p.Cys173Trp Single submitter ⚠
- p.Gln279His Single submitter ⚠
- p.Gln3His Single submitter ⚠
- p.Gln406Arg Single submitter ⚠
- p.Gln491Arg Single submitter ⚠
- p.Glu218Val Single submitter ⚠
- p.Glu343Gln Single submitter ⚠
- p.Glu365Lys Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Glu513Gln Single submitter ⚠
- p.Glu568Asp Single submitter ⚠
- p.Glu592Val Single submitter ⚠
- p.Glu607Ala Single submitter ⚠
- p.Glu622Lys Single submitter ⚠
- p.Glu636Lys Single submitter ⚠
- p.Glu654Lys Single submitter ⚠
- p.Gly111Arg Single submitter ⚠
- p.Gly116Trp Single submitter ⚠
- p.Gly181Asp Single submitter ⚠
- p.Gly191Arg Single submitter ⚠
- p.Gly191Asp Single submitter ⚠
- p.Gly191Ser Single submitter ⚠
- p.Gly266Asp Single submitter ⚠
- p.Gly274Arg Single submitter ⚠
- p.Gly466Glu Single submitter ⚠
- p.Gly4Cys Single submitter ⚠
- p.Gly601Arg Single submitter ⚠
- p.Gly616Asp Single submitter ⚠
- p.Gly81Ser Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.His500Arg Single submitter ⚠
- p.His506Arg Single submitter ⚠
- p.His76Tyr Single submitter ⚠
- p.Ile93Val Single submitter ⚠
- p.Leu247Arg Single submitter ⚠
- p.Leu310Val Single submitter ⚠
- p.Leu487Val Single submitter ⚠
- p.Leu495Phe Single submitter ⚠
- p.Leu527Val Single submitter ⚠
- p.Lys368Arg Single submitter ⚠
- p.Met205Thr Single submitter ⚠
- p.Met205Val Single submitter ⚠
- p.Met555Val Single submitter ⚠
- p.Met77Val Single submitter ⚠
- p.Phe131Leu Single submitter ⚠
- p.Phe156Leu Single submitter ⚠
- p.Pro130Ala Single submitter ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro298Gln Single submitter ⚠
- p.Pro461Leu Single submitter ⚠
- p.Pro492Leu Single submitter ⚠
- p.Pro570Thr Single submitter ⚠
- p.Pro597Leu Single submitter ⚠
- p.Pro609Ser Single submitter ⚠
- p.Pro82Ser Single submitter ⚠
- p.Ser12Asn Single submitter ⚠
- p.Ser171Gly Single submitter ⚠
- p.Ser216Phe Single submitter ⚠
- p.Ser221Pro Single submitter ⚠
- p.Ser241Gly Single submitter ⚠
- p.Ser323Gly Single submitter ⚠
- p.Ser353Thr Single submitter ⚠
- p.Ser393Tyr Single submitter ⚠
- p.Ser422Arg Single submitter ⚠
- p.Ser644Ile Single submitter ⚠
- p.Thr222Arg Single submitter ⚠
- p.Thr270Ile Single submitter ⚠
- p.Thr43Ile Single submitter ⚠
- p.Thr569Pro Single submitter ⚠
- p.Thr633Met Single submitter ⚠
- p.Val258Leu Single submitter ⚠
- p.Val367Met Single submitter ⚠
- p.Val502Met Single submitter ⚠
- p.Val581Ala Single submitter ⚠
- p.Val589Ile Single submitter ⚠
- p.Val639Ile Single submitter ⚠