FKBP4 — 48 ClinVar variants
All ClinVar germline FKBP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
4 Benign · 3 Likely benign · 41 Uncertain significance
Full FKBP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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.
- FKBP4 p.Ala365Ser Uncertain significance Single submitter
- FKBP4 p.Ala374Gly Uncertain significance Single submitter
- FKBP4 p.Ala425Ser Uncertain significance Single submitter
- FKBP4 p.Arg210His Uncertain significance Single submitter
- FKBP4 p.Arg373Gln Uncertain significance Single submitter
- FKBP4 p.Arg406Gln Uncertain significance Single submitter
- FKBP4 p.Asn343Asp Uncertain significance Single submitter
- FKBP4 p.Asn351Lys Uncertain significance Single submitter
- FKBP4 p.Gln185His Uncertain significance Single submitter
- FKBP4 p.Gln333Arg Uncertain significance Single submitter
- FKBP4 p.Glu146Lys Uncertain significance Single submitter
- FKBP4 p.Glu253Lys Uncertain significance Single submitter
- FKBP4 p.Glu421Lys Uncertain significance Single submitter
- FKBP4 p.Glu422Asp Uncertain significance Single submitter
- FKBP4 p.Gly12Glu Uncertain significance Single submitter
- FKBP4 p.Gly228Asp Uncertain significance Single submitter
- FKBP4 p.Gly231Trp Uncertain significance Single submitter
- FKBP4 p.Ile169Val Uncertain significance Single submitter
- FKBP4 p.Ile192Thr Uncertain significance Single submitter
- FKBP4 p.Lys390Arg Uncertain significance Single submitter
- FKBP4 p.Lys409Gln Uncertain significance Single submitter
- FKBP4 p.Lys441Glu Uncertain significance Single submitter
- FKBP4 p.Met327Leu Uncertain significance Single submitter
-
FKBP4 p.Met440Thr
Uncertain significance
Single submitter
FKBP4-related disorder
- FKBP4 p.Ser451Arg Uncertain significance Single submitter
- FKBP4 p.Thr436Ser Uncertain significance Single submitter
- FKBP4 p.Thr457Arg Uncertain significance Single submitter
- FKBP4 p.Tyr111Phe Uncertain significance Single submitter
- FKBP4 p.Val219Leu Uncertain significance Single submitter
- FKBP4 p.Val219Met Uncertain significance Single submitter
- FKBP4 p.Val366Met Uncertain significance Single submitter
- FKBP4 p.Val395Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- FKBP4 p.Arg210Cys Uncertain significance Single submitter
- FKBP4 p.Arg276Trp Uncertain significance Single submitter
- FKBP4 p.Arg399Trp Uncertain significance Single submitter
- FKBP4 p.Glu194Lys Uncertain significance Single submitter
- FKBP4 p.Glu442Lys Uncertain significance Single submitter
- FKBP4 p.Gly284Ser Uncertain significance Single submitter
- FKBP4 p.His322Arg Uncertain significance Single submitter
- FKBP4 p.Ile339Thr Uncertain significance Single submitter
- FKBP4 p.Tyr280Ser Uncertain significance Single submitter
All FKBP4 variants
Benign 4
- c.763-4G>A Multiple submitters
- p.Gln454His Multiple submitters
- p.Leu380= Single submitter
- p.Lys181Gln Single submitter
Likely benign 3
- p.Arg189His Multiple submitters
- p.Asn308Ser Single submitter
- p.Glu45Ala Single submitter
Uncertain significance 41
- p.Ala365Ser Single submitter ⚠
- p.Ala374Gly Single submitter ⚠
- p.Ala425Ser Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg276Trp Single submitter ⚠
- p.Arg373Gln Single submitter ⚠
- p.Arg399Trp Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Asn343Asp Single submitter ⚠
- p.Asn351Lys Single submitter ⚠
- p.Gln185His Single submitter ⚠
- p.Gln333Arg Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu194Lys Single submitter ⚠
- p.Glu253Lys Single submitter ⚠
- p.Glu421Lys Single submitter ⚠
- p.Glu422Asp Single submitter ⚠
- p.Glu442Lys Single submitter ⚠
- p.Gly12Glu Single submitter ⚠
- p.Gly228Asp Single submitter ⚠
- p.Gly231Trp Single submitter ⚠
- p.Gly284Ser Single submitter ⚠
- p.His322Arg Single submitter ⚠
- p.Ile169Val Single submitter ⚠
- p.Ile192Thr Single submitter ⚠
- p.Ile339Thr Single submitter ⚠
- p.Lys390Arg Single submitter ⚠
- p.Lys409Gln Single submitter ⚠
- p.Lys441Glu Single submitter ⚠
- p.Met327Leu Single submitter ⚠
- p.Met440Thr Single submitter FKBP4-related disorder ⚠
- p.Ser451Arg Single submitter ⚠
- p.Thr436Ser Single submitter ⚠
- p.Thr457Arg Single submitter ⚠
- p.Tyr111Phe Single submitter ⚠
- p.Tyr280Ser Single submitter ⚠
- p.Val219Leu Single submitter ⚠
- p.Val219Met Single submitter ⚠
- p.Val366Met Single submitter ⚠
- p.Val395Met Single submitter ⚠