CREBRF — 60 ClinVar variants
All ClinVar germline CREBRF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
2 Benign · 3 Likely benign · 55 Uncertain significance
Full CREBRF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CREBRF p.Ala260Val Uncertain significance Single submitter
- CREBRF p.Ala269Glu Uncertain significance Single submitter
- CREBRF p.Arg249Trp Uncertain significance Single submitter
- CREBRF p.Arg426Trp Uncertain significance Single submitter
- CREBRF p.Arg481Trp Uncertain significance Single submitter
- CREBRF p.Arg577Gln Uncertain significance Single submitter
- CREBRF p.Arg582Lys Uncertain significance Single submitter
- CREBRF p.Asn226Lys Uncertain significance Single submitter
- CREBRF p.Asn243Ser Uncertain significance Single submitter
- CREBRF p.Asn35Asp Uncertain significance Single submitter
- CREBRF p.Asn456Ser Uncertain significance Single submitter
- CREBRF p.Asn80Ser Uncertain significance Single submitter
- CREBRF p.Asp258Asn Uncertain significance Single submitter
- CREBRF p.Asp599Tyr Uncertain significance Single submitter
- CREBRF p.Asp76Asn Uncertain significance Single submitter
- CREBRF p.Gln254His Uncertain significance Single submitter
- CREBRF p.Gln274Arg Uncertain significance Single submitter
- CREBRF p.Gln579Glu Uncertain significance Single submitter
- CREBRF p.Gln608Lys Uncertain significance Single submitter
- CREBRF p.Glu611Ala Uncertain significance Single submitter
- CREBRF p.Gly284Arg Uncertain significance Single submitter
- CREBRF p.His228Arg Uncertain significance Single submitter
- CREBRF p.His256Asp Uncertain significance Single submitter
- CREBRF p.Ile242Met Uncertain significance Single submitter
- CREBRF p.Leu154Phe Uncertain significance Single submitter
- CREBRF p.Leu251Phe Uncertain significance Single submitter
- CREBRF p.Lys331Arg Uncertain significance Single submitter
- CREBRF p.Pro167Leu Uncertain significance Single submitter
- CREBRF p.Pro167Thr Uncertain significance Single submitter
- CREBRF p.Pro244Leu Uncertain significance Single submitter
- CREBRF p.Pro291Leu Uncertain significance Single submitter
- CREBRF p.Ser187Cys Uncertain significance Single submitter
- CREBRF p.Ser209Ala Uncertain significance Single submitter
- CREBRF p.Ser23Leu Uncertain significance Single submitter
- CREBRF p.Ser318Thr Uncertain significance Single submitter
- CREBRF p.Ser324Leu Uncertain significance Single submitter
- CREBRF p.Thr21Ala Uncertain significance Single submitter
- CREBRF p.Thr600Ile Uncertain significance Single submitter
- CREBRF p.Thr636Ala Uncertain significance Single submitter
- CREBRF p.Tyr220Phe Uncertain significance Single submitter
- CREBRF p.Tyr266Asn Uncertain significance Single submitter
- CREBRF p.Tyr266Cys Uncertain significance Single submitter
- CREBRF p.Tyr409Cys Uncertain significance Single submitter
- CREBRF p.Val325Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CREBRF p.Glu334Val Uncertain significance Single submitter
- CREBRF p.Glu385Lys Uncertain significance Single submitter
- CREBRF p.Lys478Asn Uncertain significance Single submitter
- CREBRF p.Phe123Ile Uncertain significance Single submitter
- CREBRF p.Pro524Thr Uncertain significance Single submitter
- CREBRF p.Ser380Phe Uncertain significance Single submitter
- CREBRF p.Ser7Arg Uncertain significance Single submitter
All CREBRF variants
Uncertain significance 55
- p.Ala260Val Single submitter ⚠
- p.Ala269Glu Single submitter ⚠
- p.Arg18Ter Single submitter
- p.Arg249Trp Single submitter ⚠
- p.Arg426Trp Single submitter ⚠
- p.Arg481Trp Single submitter ⚠
- p.Arg577Gln Single submitter ⚠
- p.Arg582Lys Single submitter ⚠
- p.Asn226Lys Single submitter ⚠
- p.Asn243Ser Single submitter ⚠
- p.Asn35Asp Single submitter ⚠
- p.Asn456Ser Single submitter ⚠
- p.Asn80Ser Single submitter ⚠
- p.Asp258Asn Single submitter ⚠
- p.Asp599Tyr Single submitter ⚠
- p.Asp76Asn Single submitter ⚠
- p.Gln254His Single submitter ⚠
- p.Gln274Arg Single submitter ⚠
- p.Gln466Arg Single submitter
- p.Gln579Glu Single submitter ⚠
- p.Gln608Lys Single submitter ⚠
- p.Glu334Val Single submitter ⚠
- p.Glu385Lys Single submitter ⚠
- p.Glu611Ala Single submitter ⚠
- p.Gly284Arg Single submitter ⚠
- p.His228Arg Single submitter ⚠
- p.His256Asp Single submitter ⚠
- p.Ile242Met Single submitter ⚠
- p.Leu154Phe Single submitter ⚠
- p.Leu251Phe Single submitter ⚠
- p.Leu441Pro Single submitter
- p.Lys331Arg Single submitter ⚠
- p.Lys478Asn Single submitter ⚠
- p.Phe123Ile Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Pro167Thr Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Pro291Leu Single submitter ⚠
- p.Pro524Thr Single submitter ⚠
- p.Pro635Thr Single submitter
- p.Ser187Cys Single submitter ⚠
- p.Ser209Ala Single submitter ⚠
- p.Ser23Leu Single submitter ⚠
- p.Ser318Thr Single submitter ⚠
- p.Ser324Leu Single submitter ⚠
- p.Ser380Phe Single submitter ⚠
- p.Ser7Arg Single submitter ⚠
- p.Thr21Ala Single submitter ⚠
- p.Thr600Ile Single submitter ⚠
- p.Thr636Ala Single submitter ⚠
- p.Tyr220Phe Single submitter ⚠
- p.Tyr266Asn Single submitter ⚠
- p.Tyr266Cys Single submitter ⚠
- p.Tyr409Cys Single submitter ⚠
- p.Val325Leu Single submitter ⚠