AKTIP — 37 ClinVar variants
All ClinVar germline AKTIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Likely benign · 36 Uncertain significance
Full AKTIP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKTIP p.Ala47Val Uncertain significance Single submitter
- AKTIP p.Arg101His Uncertain significance Single submitter
- AKTIP p.Arg101Ser Uncertain significance Single submitter
- AKTIP p.Arg113Gln Uncertain significance Single submitter
- AKTIP p.Asp205Gly Uncertain significance Single submitter
- AKTIP p.Gln262Glu Uncertain significance Single submitter
- AKTIP p.Gln262Lys Uncertain significance Single submitter
- AKTIP p.Gly108Ala Uncertain significance Single submitter
- AKTIP p.Gly18Asp Uncertain significance Single submitter
- AKTIP p.Lys14Arg Uncertain significance Single submitter
- AKTIP p.Lys212Glu Uncertain significance Single submitter
- AKTIP p.Lys21Asn Uncertain significance Single submitter
- AKTIP p.Lys21Glu Uncertain significance Single submitter
- AKTIP p.Lys265Arg Uncertain significance Single submitter
- AKTIP p.Met253Thr Uncertain significance Single submitter
- AKTIP p.Phe225Leu Uncertain significance Single submitter
- AKTIP p.Pro145Ser Uncertain significance Single submitter
- AKTIP p.Pro149Leu Uncertain significance Single submitter
- AKTIP p.Pro53Ser Uncertain significance Single submitter
- AKTIP p.Thr255Ile Uncertain significance Single submitter
- AKTIP p.Thr54Ser Uncertain significance Single submitter
- AKTIP p.Val280Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- AKTIP p.Ala235Thr Likely benign Multiple submitters
- AKTIP p.Arg139Cys Uncertain significance Single submitter
- AKTIP p.Arg13Cys Uncertain significance Single submitter
- AKTIP p.Asp247His Uncertain significance Single submitter
- AKTIP p.Ile236Val Uncertain significance Single submitter
- AKTIP p.Leu194Arg Uncertain significance Single submitter
- AKTIP p.Lys187Arg Uncertain significance Single submitter
- AKTIP p.Lys210Arg Uncertain significance Single submitter
- AKTIP p.Lys276Glu Uncertain significance Single submitter
- AKTIP p.Pro233His Uncertain significance Single submitter
- AKTIP p.Pro240Leu Uncertain significance Single submitter
- AKTIP p.Pro53Leu Uncertain significance Single submitter
- AKTIP p.Ser239Phe Uncertain significance Single submitter
- AKTIP p.Val121Ile Uncertain significance Single submitter
- AKTIP p.Val160Met Uncertain significance Single submitter
All AKTIP variants
Likely benign 1
- p.Ala235Thr Multiple submitters ⚠
Uncertain significance 36
- p.Ala47Val Single submitter ⚠
- p.Arg101His Single submitter ⚠
- p.Arg101Ser Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg139Cys Single submitter ⚠
- p.Arg13Cys Single submitter ⚠
- p.Asp205Gly Single submitter ⚠
- p.Asp247His Single submitter ⚠
- p.Gln262Glu Single submitter ⚠
- p.Gln262Lys Single submitter ⚠
- p.Gly108Ala Single submitter ⚠
- p.Gly18Asp Single submitter ⚠
- p.Ile236Val Single submitter ⚠
- p.Leu194Arg Single submitter ⚠
- p.Lys14Arg Single submitter ⚠
- p.Lys187Arg Single submitter ⚠
- p.Lys210Arg Single submitter ⚠
- p.Lys212Glu Single submitter ⚠
- p.Lys21Asn Single submitter ⚠
- p.Lys21Glu Single submitter ⚠
- p.Lys265Arg Single submitter ⚠
- p.Lys276Glu Single submitter ⚠
- p.Met253Thr Single submitter ⚠
- p.Phe225Leu Single submitter ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro149Leu Single submitter ⚠
- p.Pro233His Single submitter ⚠
- p.Pro240Leu Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Pro53Ser Single submitter ⚠
- p.Ser239Phe Single submitter ⚠
- p.Thr255Ile Single submitter ⚠
- p.Thr54Ser Single submitter ⚠
- p.Val121Ile Single submitter ⚠
- p.Val160Met Single submitter ⚠
- p.Val280Ile Single submitter ⚠