AKAP7 — 40 ClinVar variants
All ClinVar germline AKAP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
4 Likely benign · 36 Uncertain significance
Full AKAP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKAP7 p.Ala335Thr Uncertain significance Single submitter
- AKAP7 p.Asn345Asp Uncertain significance Single submitter
- AKAP7 p.Asn58Tyr Uncertain significance Single submitter
- AKAP7 p.Asp240His Uncertain significance Single submitter
- AKAP7 p.Asp261Tyr Uncertain significance Single submitter
- AKAP7 p.Asp44Glu Uncertain significance Single submitter
- AKAP7 p.Asp48Gly Uncertain significance Single submitter
- AKAP7 p.Asp53Glu Uncertain significance Single submitter
- AKAP7 p.Gln320His Uncertain significance Single submitter
- AKAP7 p.Gln338Glu Uncertain significance Single submitter
- AKAP7 p.Glu13Asp Uncertain significance Single submitter
- AKAP7 p.Glu245Ala Uncertain significance Single submitter
- AKAP7 p.Glu327Lys Uncertain significance Single submitter
- AKAP7 p.Glu54Asp Uncertain significance Single submitter
- AKAP7 p.Gly207Val Uncertain significance Single submitter
- AKAP7 p.His250Tyr Uncertain significance Single submitter
- AKAP7 p.Ile155Met Uncertain significance Single submitter
- AKAP7 p.Ile260Val Uncertain significance Single submitter
- AKAP7 p.Ile9Val Uncertain significance Single submitter
- AKAP7 p.Lys69Asn Uncertain significance Single submitter
- AKAP7 p.Lys74Asn Uncertain significance Single submitter
- AKAP7 p.Met223Leu Uncertain significance Single submitter
- AKAP7 p.Ser191Leu Uncertain significance Single submitter
- AKAP7 p.Ser226Thr Uncertain significance Single submitter
- AKAP7 p.Ser264Pro Uncertain significance Single submitter
- AKAP7 p.Ser329Asn Uncertain significance Single submitter
- AKAP7 p.Ser62Arg Uncertain significance Single submitter
- AKAP7 p.Ser70Asn Uncertain significance Single submitter
- AKAP7 p.Thr202Ala Uncertain significance Single submitter
- AKAP7 p.Thr31Ala Uncertain significance Single submitter
- AKAP7 p.Tyr258Asn Uncertain significance Single submitter
- AKAP7 p.Val36Gly Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All AKAP7 variants
Likely benign 4
- p.Asn12Ser Single submitter
- p.Glu344Asp Single submitter
- p.Ile256Met Single submitter
- p.Met32Val Single submitter
Uncertain significance 36
- p.Ala335Thr Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Asn345Asp Single submitter ⚠
- p.Asn58Tyr Single submitter ⚠
- p.Asp240His Single submitter ⚠
- p.Asp261Tyr Single submitter ⚠
- p.Asp44Glu Single submitter ⚠
- p.Asp48Gly Single submitter ⚠
- p.Asp53Glu Single submitter ⚠
- p.Gln320His Single submitter ⚠
- p.Gln338Glu Single submitter ⚠
- p.Glu13Asp Single submitter ⚠
- p.Glu245Ala Single submitter ⚠
- p.Glu327Lys Single submitter ⚠
- p.Glu54Asp Single submitter ⚠
- p.Gly101Val Single submitter ⚠
- p.Gly207Val Single submitter ⚠
- p.His250Tyr Single submitter ⚠
- p.Ile155Met Single submitter ⚠
- p.Ile260Val Single submitter ⚠
- p.Ile9Val Single submitter ⚠
- p.Leu299Phe Single submitter
- p.Lys69Asn Single submitter ⚠
- p.Lys74Asn Single submitter ⚠
- p.Met223Leu Single submitter ⚠
- p.Ser191Leu Single submitter ⚠
- p.Ser226Thr Single submitter ⚠
- p.Ser264Pro Single submitter ⚠
- p.Ser329Asn Single submitter ⚠
- p.Ser62Arg Single submitter ⚠
- p.Ser70Asn Single submitter ⚠
- p.Thr202Ala Single submitter ⚠
- p.Thr31Ala Single submitter ⚠
- p.Tyr258Asn Single submitter ⚠
- p.Val132Met Single submitter
- p.Val36Gly Single submitter ⚠