AAK1 — 101 ClinVar variants
All ClinVar germline AAK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
2 Benign · 6 Likely benign · 93 Uncertain significance
Full AAK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AAK1 p.Ala455Ser Uncertain significance Single submitter
- AAK1 p.Ala455Val Uncertain significance Single submitter
- AAK1 p.Ala481Val Uncertain significance Single submitter
- AAK1 p.Ala570Thr Uncertain significance Single submitter
- AAK1 p.Ala588Val Uncertain significance Single submitter
- AAK1 p.Ala828Pro Uncertain significance Single submitter
- AAK1 p.Ala883Val Uncertain significance Single submitter
- AAK1 p.Arg226Gln Uncertain significance Single submitter
- AAK1 p.Arg598Gly Uncertain significance Single submitter
- AAK1 p.Arg760Gly Uncertain significance Single submitter
- AAK1 p.Arg855His Uncertain significance Single submitter
- AAK1 p.Asn407Ser Uncertain significance Single submitter
- AAK1 p.Gln444Lys Uncertain significance Single submitter
- AAK1 p.Gln494Pro Uncertain significance Single submitter
- AAK1 p.Gln847Arg Uncertain significance Single submitter
- AAK1 p.Glu208Gly Uncertain significance Single submitter
- AAK1 p.Glu733Asp Uncertain significance Single submitter
- AAK1 p.Glu880Asp Uncertain significance Single submitter
- AAK1 p.Gly209Arg Uncertain significance Single submitter
- AAK1 p.Gly36Ala Uncertain significance Single submitter
- AAK1 p.Gly36Glu Uncertain significance Single submitter
- AAK1 p.Gly769Asp Uncertain significance Single submitter
- AAK1 p.His504Pro Uncertain significance Single submitter
- AAK1 p.Ile173Thr Uncertain significance Single submitter
- AAK1 p.Leu728Pro Uncertain significance Single submitter
- AAK1 p.Leu958Phe Uncertain significance Single submitter
- AAK1 p.Lys759Glu Uncertain significance Single submitter
- AAK1 p.Lys88Thr Uncertain significance Single submitter
- AAK1 p.Phe146Cys Uncertain significance Single submitter
- AAK1 p.Pro429Ser Uncertain significance Single submitter
- AAK1 p.Pro771Thr Uncertain significance Single submitter
- AAK1 p.Pro788Ser Uncertain significance Single submitter
- AAK1 p.Thr606Ala Uncertain significance Single submitter
- AAK1 p.Thr875Ala Uncertain significance Single submitter
- AAK1 p.Tyr292Cys Uncertain significance Single submitter
- AAK1 p.Tyr490His Uncertain significance Single submitter
- AAK1 p.Val686Ile Uncertain significance Single submitter
- AAK1 p.Val775Met Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- AAK1 p.Thr694Met Benign Multiple submitters
- AAK1 p.Ala344Thr Uncertain significance Single submitter
- AAK1 p.Ala351Thr Uncertain significance Single submitter
- AAK1 p.Ala387Val Uncertain significance Single submitter
- AAK1 p.Ala732Val Uncertain significance Single submitter
- AAK1 p.Arg141His Uncertain significance Single submitter
- AAK1 p.Arg164Cys Uncertain significance Single submitter
- AAK1 p.Arg281Gln Uncertain significance Single submitter
- AAK1 p.Arg633Lys Uncertain significance Single submitter
- AAK1 p.Arg855Cys Uncertain significance Single submitter
- AAK1 p.Asn200Ser Uncertain significance Single submitter
- AAK1 p.Asn67Ser Uncertain significance Single submitter
- AAK1 p.Asn947Lys Uncertain significance Single submitter
- AAK1 p.Cys71Tyr Uncertain significance Single submitter
- AAK1 p.Cys868Tyr Uncertain significance Single submitter
- AAK1 p.Gln44Leu Uncertain significance Single submitter
- AAK1 p.Gln473Leu Uncertain significance Single submitter
- AAK1 p.Gln584His Uncertain significance Single submitter
- AAK1 p.Gln684Lys Uncertain significance Single submitter
- AAK1 p.Glu726Lys Uncertain significance Single submitter
- AAK1 p.Gly117Ser Uncertain significance Single submitter
- AAK1 p.Gly29Ala Uncertain significance Single submitter
- AAK1 p.Gly646Glu Uncertain significance Single submitter
- AAK1 p.His185Tyr Uncertain significance Single submitter
- AAK1 p.His463Arg Uncertain significance Single submitter
- AAK1 p.Ile111Val Uncertain significance Single submitter
- AAK1 p.Ile154Val Uncertain significance Single submitter
- AAK1 p.Ile182Leu Uncertain significance Single submitter
- AAK1 p.Leu315Arg Uncertain significance Single submitter
- AAK1 p.Leu619Val Uncertain significance Single submitter
- AAK1 p.Leu656Phe Uncertain significance Single submitter
- AAK1 p.Leu878Phe Uncertain significance Single submitter
- AAK1 p.Leu900Ile Uncertain significance Single submitter
- AAK1 p.Met69Thr Uncertain significance Single submitter
- AAK1 p.Pro429Leu Uncertain significance Single submitter
- AAK1 p.Pro446His Uncertain significance Single submitter
- AAK1 p.Pro485Leu Uncertain significance Single submitter
- AAK1 p.Pro585Arg Uncertain significance Single submitter
- AAK1 p.Pro585Ser Uncertain significance Single submitter
- AAK1 p.Pro601Leu Uncertain significance Single submitter
- AAK1 p.Pro737Leu Uncertain significance Single submitter
- AAK1 p.Pro838His Uncertain significance Single submitter
- AAK1 p.Pro841Ser Uncertain significance Single submitter
- AAK1 p.Ser20Phe Uncertain significance Single submitter
- AAK1 p.Ser235Asn Uncertain significance Single submitter
- AAK1 p.Ser327Phe Uncertain significance Single submitter
- AAK1 p.Ser32Gly Uncertain significance Single submitter
- AAK1 p.Ser624Tyr Uncertain significance Single submitter
- AAK1 p.Ser853Leu Uncertain significance Single submitter
- AAK1 p.Ser869Cys Uncertain significance Single submitter
- AAK1 p.Thr241Met Uncertain significance Single submitter
- AAK1 p.Thr445Met Uncertain significance Single submitter
- AAK1 p.Thr694Ala Uncertain significance Single submitter
- AAK1 p.Tyr34Cys Uncertain significance Single submitter
- AAK1 p.Val840Phe Uncertain significance Single submitter
-
AAK1 p.Ser864Tyr
Uncertain significance
No assertion criteria
Tooth agenesis
All AAK1 variants
Benign 2
- p.Leu719= Multiple submitters
- p.Thr694Met Multiple submitters ⚠
Likely benign 6
- p.Gly105= Multiple submitters
- p.Ala455Thr Single submitter
- p.Arg352= Single submitter
- p.Gly572Val Single submitter
- p.Ile35= Single submitter
- p.Leu961= Single submitter
Uncertain significance 93
- p.Ala344Thr Single submitter ⚠
- p.Ala351Thr Single submitter ⚠
- p.Ala387Val Single submitter ⚠
- p.Ala455Ser Single submitter ⚠
- p.Ala455Val Single submitter ⚠
- p.Ala481Val Single submitter ⚠
- p.Ala570Thr Single submitter ⚠
- p.Ala588Val Single submitter ⚠
- p.Ala732Val Single submitter ⚠
- p.Ala828Pro Single submitter ⚠
- p.Ala883Val Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg164Cys Single submitter ⚠
- p.Arg226Gln Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg598Gly Single submitter ⚠
- p.Arg633Lys Single submitter ⚠
- p.Arg760Gly Single submitter ⚠
- p.Arg855Cys Single submitter ⚠
- p.Arg855His Single submitter ⚠
- p.Asn200Ser Single submitter ⚠
- p.Asn407Ser Single submitter ⚠
- p.Asn67Ser Single submitter ⚠
- p.Asn947Lys Single submitter ⚠
- p.Cys71Tyr Single submitter ⚠
- p.Cys868Tyr Single submitter ⚠
- p.Gln444Lys Single submitter ⚠
- p.Gln44Leu Single submitter ⚠
- p.Gln473Leu Single submitter ⚠
- p.Gln494Pro Single submitter ⚠
- p.Gln584His Single submitter ⚠
- p.Gln684Lys Single submitter ⚠
- p.Gln847Arg Single submitter ⚠
- p.Glu208Gly Single submitter ⚠
- p.Glu726Lys Single submitter ⚠
- p.Glu733Asp Single submitter ⚠
- p.Glu880Asp Single submitter ⚠
- p.Gly117Ser Single submitter ⚠
- p.Gly209Arg Single submitter ⚠
- p.Gly29Ala Single submitter ⚠
- p.Gly36Ala Single submitter ⚠
- p.Gly36Glu Single submitter ⚠
- p.Gly646Glu Single submitter ⚠
- p.Gly769Asp Single submitter ⚠
- p.His185Tyr Single submitter ⚠
- p.His463Arg Single submitter ⚠
- p.His504Pro Single submitter ⚠
- p.Ile111Val Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile173Thr Single submitter ⚠
- p.Ile182Leu Single submitter ⚠
- p.Leu315Arg Single submitter ⚠
- p.Leu619Val Single submitter ⚠
- p.Leu656Phe Single submitter ⚠
- p.Leu728Pro Single submitter ⚠
- p.Leu878Phe Single submitter ⚠
- p.Leu900Ile Single submitter ⚠
- p.Leu958Phe Single submitter ⚠
- p.Lys759Glu Single submitter ⚠
- p.Lys88Thr Single submitter ⚠
- p.Met69Thr Single submitter ⚠
- p.Phe146Cys Single submitter ⚠
- p.Pro429Leu Single submitter ⚠
- p.Pro429Ser Single submitter ⚠
- p.Pro446His Single submitter ⚠
- p.Pro485Leu Single submitter ⚠
- p.Pro585Arg Single submitter ⚠
- p.Pro585Ser Single submitter ⚠
- p.Pro601Leu Single submitter ⚠
- p.Pro737Leu Single submitter ⚠
- p.Pro771Thr Single submitter ⚠
- p.Pro788Ser Single submitter ⚠
- p.Pro838His Single submitter ⚠
- p.Pro841Ser Single submitter ⚠
- p.Ser20Phe Single submitter ⚠
- p.Ser235Asn Single submitter ⚠
- p.Ser327Phe Single submitter ⚠
- p.Ser32Gly Single submitter ⚠
- p.Ser624Tyr Single submitter ⚠
- p.Ser853Leu Single submitter ⚠
- p.Ser869Cys Single submitter ⚠
- p.Thr241Met Single submitter ⚠
- p.Thr445Met Single submitter ⚠
- p.Thr606Ala Single submitter ⚠
- p.Thr694Ala Single submitter ⚠
- p.Thr875Ala Single submitter ⚠
- p.Tyr292Cys Single submitter ⚠
- p.Tyr34Cys Single submitter ⚠
- p.Tyr490His Single submitter ⚠
- p.Val686Ile Single submitter ⚠
- p.Val775Met Single submitter ⚠
- p.Val840Phe Single submitter ⚠
- p.Ser864Tyr No assertion criteria Tooth agenesis ⚠