FKBP8 — 52 ClinVar variants
All ClinVar germline FKBP8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
3 Likely benign · 49 Uncertain significance
Full FKBP8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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FKBP8 p.Ala242Thr
Uncertain significance
Single submitter
Marfanoid habitus and intellectual disability
- FKBP8 p.Ala256Thr Uncertain significance Single submitter
- FKBP8 p.Ala266Thr Uncertain significance Single submitter
- FKBP8 p.Ala345Thr Uncertain significance Single submitter
- FKBP8 p.Ala71Val Uncertain significance Single submitter
- FKBP8 p.Ala79Asp Uncertain significance Single submitter
- FKBP8 p.Ala85Thr Uncertain significance Single submitter
- FKBP8 p.Arg116Cys Uncertain significance Single submitter
- FKBP8 p.Arg116His Uncertain significance Single submitter
- FKBP8 p.Arg136Trp Uncertain significance Single submitter
- FKBP8 p.Arg290Cys Uncertain significance Single submitter
- FKBP8 p.Arg358Gln Uncertain significance Single submitter
- FKBP8 p.Arg374Gln Uncertain significance Single submitter
- FKBP8 p.Asp23Gly Uncertain significance Single submitter
- FKBP8 p.Asp48Glu Uncertain significance Single submitter
- FKBP8 p.Gln357Arg Uncertain significance Single submitter
- FKBP8 p.Glu75Gly Uncertain significance Single submitter
- FKBP8 p.His354Arg Uncertain significance Single submitter
- FKBP8 p.Leu107Arg Uncertain significance Single submitter
- FKBP8 p.Leu127Val Uncertain significance Single submitter
- FKBP8 p.Met163Val Uncertain significance Single submitter
- FKBP8 p.Met170Val Uncertain significance Single submitter
- FKBP8 p.Pro111Leu Uncertain significance Single submitter
- FKBP8 p.Pro190His Uncertain significance Single submitter
- FKBP8 p.Pro88Leu Uncertain significance Single submitter
- FKBP8 p.Ser130Leu Uncertain significance Single submitter
- FKBP8 p.Ser254Thr Uncertain significance Single submitter
- FKBP8 p.Ser359Asn Uncertain significance Single submitter
- FKBP8 p.Thr200Asn Uncertain significance Single submitter
- FKBP8 p.Thr203Met Uncertain significance Single submitter
- FKBP8 p.Thr360Met Uncertain significance Single submitter
- FKBP8 p.Tyr188Cys Uncertain significance Single submitter
- FKBP8 p.Tyr188His Uncertain significance Single submitter
- FKBP8 p.Val144Leu Uncertain significance Single submitter
- FKBP8 p.Val205Ala Uncertain significance Single submitter
- FKBP8 p.Val239Ile Uncertain significance Single submitter
- FKBP8 p.Val398Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- FKBP8 p.Glu41Lys Uncertain significance Multiple submitters
- FKBP8 p.Glu22Lys Uncertain significance Single submitter
- FKBP8 p.Glu263Lys Uncertain significance Single submitter
- FKBP8 p.Glu39Lys Uncertain significance Single submitter
- FKBP8 p.Gly370Ser Uncertain significance Single submitter
- FKBP8 p.His288Asp Uncertain significance Single submitter
- FKBP8 p.Phe76Leu Uncertain significance Single submitter
- FKBP8 p.Ser114Leu Uncertain significance Single submitter
- FKBP8 p.Thr106Met Uncertain significance Single submitter
- FKBP8 p.Thr168Met Uncertain significance Single submitter
- FKBP8 p.Val165Met Uncertain significance Single submitter
All FKBP8 variants
Likely benign 3
- p.Ala63Val Single submitter
- p.Glu67= Single submitter
- p.Pro15= Single submitter
Uncertain significance 49
- p.Glu41Lys Multiple submitters ⚠
- p.Ala242Thr Single submitter Marfanoid habitus and intellectual disability ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala345Thr Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Ala79Asp Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg116His Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg290Cys Single submitter ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg374Gln Single submitter ⚠
- p.Asp23Gly Single submitter ⚠
- p.Asp48Glu Single submitter ⚠
- p.Gln357Arg Single submitter ⚠
- p.Glu211Ala Single submitter
- p.Glu22Lys Single submitter ⚠
- p.Glu263Lys Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Glu75Gly Single submitter ⚠
- p.Gly370Ser Single submitter ⚠
- p.His288Asp Single submitter ⚠
- p.His354Arg Single submitter ⚠
- p.Leu107Arg Single submitter ⚠
- p.Leu127Val Single submitter ⚠
- p.Met163Val Single submitter ⚠
- p.Met170Val Single submitter ⚠
- p.Phe76Leu Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro190His Single submitter ⚠
- p.Pro88Leu Single submitter ⚠
- p.Ser114Leu Single submitter ⚠
- p.Ser130Leu Single submitter ⚠
- p.Ser254Thr Single submitter ⚠
- p.Ser359Asn Single submitter ⚠
- p.Thr106Met Single submitter ⚠
- p.Thr168Met Single submitter ⚠
- p.Thr200Asn Single submitter ⚠
- p.Thr203Met Single submitter ⚠
- p.Thr360Met Single submitter ⚠
- p.Tyr188Cys Single submitter ⚠
- p.Tyr188His Single submitter ⚠
- p.Val144Leu Single submitter ⚠
- p.Val165Met Single submitter ⚠
- p.Val205Ala Single submitter ⚠
- p.Val239Ile Single submitter ⚠
- p.Val398Ile Single submitter ⚠