EFHB — 124 ClinVar variants
All ClinVar germline EFHB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
8 Likely benign · 116 Uncertain significance
Full EFHB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFHB p.Ala145Ser Uncertain significance Single submitter
- EFHB p.Ala460Ser Uncertain significance Single submitter
- EFHB p.Ala623Val Uncertain significance Single submitter
- EFHB p.Arg19Lys Uncertain significance Single submitter
- EFHB p.Arg245Leu Uncertain significance Single submitter
- EFHB p.Arg257Gln Uncertain significance Single submitter
- EFHB p.Arg284Thr Uncertain significance Single submitter
- EFHB p.Arg435Gln Uncertain significance Single submitter
- EFHB p.Arg545Gln Uncertain significance Single submitter
- EFHB p.Arg552Gln Uncertain significance Single submitter
- EFHB p.Arg685Gln Uncertain significance Single submitter
- EFHB p.Arg772Ser Uncertain significance Single submitter
- EFHB p.Asn507Ile Uncertain significance Single submitter
- EFHB p.Asn613Ser Uncertain significance Single submitter
- EFHB p.Asn618Asp Uncertain significance Single submitter
- EFHB p.Asn78Thr Uncertain significance Single submitter
- EFHB p.Asp14Asn Uncertain significance Single submitter
- EFHB p.Asp203Glu Uncertain significance Single submitter
- EFHB p.Asp564Asn Uncertain significance Single submitter
- EFHB p.Asp607His Uncertain significance Single submitter
- EFHB p.Asp612His Uncertain significance Single submitter
- EFHB p.Cys260Tyr Uncertain significance Single submitter
- EFHB p.Cys512Arg Uncertain significance Single submitter
- EFHB p.Cys512Ser Uncertain significance Single submitter
- EFHB p.Cys650Ser Uncertain significance Single submitter
- EFHB p.Gln492Arg Uncertain significance Single submitter
- EFHB p.Gln544Glu Uncertain significance Single submitter
- EFHB p.Glu114Asp Uncertain significance Single submitter
- EFHB p.Glu191Gly Uncertain significance Single submitter
- EFHB p.Glu200Gly Uncertain significance Single submitter
- EFHB p.Glu45Lys Uncertain significance Single submitter
- EFHB p.Glu504Gly Uncertain significance Single submitter
- EFHB p.Glu588Gln Uncertain significance Single submitter
- EFHB p.Gly11Arg Uncertain significance Single submitter
- EFHB p.Gly11Glu Uncertain significance Single submitter
- EFHB p.Gly366Arg Uncertain significance Single submitter
- EFHB p.Gly374Val Uncertain significance Single submitter
- EFHB p.Gly458Arg Uncertain significance Single submitter
- EFHB p.His369Arg Uncertain significance Single submitter
- EFHB p.His417Arg Uncertain significance Single submitter
- EFHB p.His469Arg Uncertain significance Single submitter
- EFHB p.Ile186Val Uncertain significance Single submitter
- EFHB p.Ile21Met Uncertain significance Single submitter
- EFHB p.Ile249Met Uncertain significance Single submitter
- EFHB p.Ile268Thr Uncertain significance Single submitter
- EFHB p.Ile268Val Uncertain significance Single submitter
- EFHB p.Ile642Val Uncertain significance Single submitter
- EFHB p.Ile672Thr Uncertain significance Single submitter
- EFHB p.Ile784Val Uncertain significance Single submitter
- EFHB p.Leu30Met Uncertain significance Single submitter
- EFHB p.Leu595Phe Uncertain significance Single submitter
- EFHB p.Lys52Glu Uncertain significance Single submitter
- EFHB p.Lys52Thr Uncertain significance Single submitter
- EFHB p.Lys541Glu Uncertain significance Single submitter
- EFHB p.Lys693Asn Uncertain significance Single submitter
- EFHB p.Lys693Glu Uncertain significance Single submitter
- EFHB p.Met109Thr Uncertain significance Single submitter
- EFHB p.Met212Val Uncertain significance Single submitter
- EFHB p.Met379Ile Uncertain significance Single submitter
- EFHB p.Phe606Cys Uncertain significance Single submitter
- EFHB p.Phe606Val Uncertain significance Single submitter
- EFHB p.Pro106Leu Uncertain significance Single submitter
- EFHB p.Pro262Arg Uncertain significance Single submitter
- EFHB p.Pro262Ser Uncertain significance Single submitter
- EFHB p.Pro319Ser Uncertain significance Single submitter
- EFHB p.Pro648Ser Uncertain significance Single submitter
- EFHB p.Thr205Ala Uncertain significance Single submitter
- EFHB p.Thr258Ala Uncertain significance Single submitter
- EFHB p.Thr279Ile Uncertain significance Single submitter
- EFHB p.Thr384Met Uncertain significance Single submitter
- EFHB p.Trp797Arg Uncertain significance Single submitter
- EFHB p.Tyr428His Uncertain significance Single submitter
- EFHB p.Tyr560Asn Uncertain significance Single submitter
- EFHB p.Tyr608Cys Uncertain significance Single submitter
- EFHB p.Tyr637Cys Uncertain significance Single submitter
- EFHB p.Tyr637Phe Uncertain significance Single submitter
- EFHB p.Val154Ile Uncertain significance Single submitter
- EFHB p.Val190Leu Uncertain significance Single submitter
- EFHB p.Val192Met Uncertain significance Single submitter
- EFHB p.Val658Ile Uncertain significance Single submitter
- EFHB p.Val796Ile Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- EFHB p.Ala264Pro Uncertain significance Single submitter
- EFHB p.Ala550Glu Uncertain significance Single submitter
- EFHB p.Ala623Thr Uncertain significance Single submitter
- EFHB p.Ala749Ser Uncertain significance Single submitter
- EFHB p.Arg459Pro Uncertain significance Single submitter
- EFHB p.Arg483Gly Uncertain significance Single submitter
- EFHB p.Arg519Cys Uncertain significance Single submitter
- EFHB p.Arg552Trp Uncertain significance Single submitter
- EFHB p.Arg685Trp Uncertain significance Single submitter
- EFHB p.Arg735Gly Uncertain significance Single submitter
- EFHB p.Arg735His Uncertain significance Single submitter
- EFHB p.Arg736Cys Uncertain significance Single submitter
- EFHB p.Asn338Ser Uncertain significance Single submitter
- EFHB p.Asp256Glu Uncertain significance Single submitter
- EFHB p.Asp370Tyr Uncertain significance Single submitter
- EFHB p.Asp500Glu Uncertain significance Single submitter
- EFHB p.Glu412Asp Uncertain significance Single submitter
- EFHB p.Glu792Asp Uncertain significance Single submitter
- EFHB p.Glu808Ala Uncertain significance Single submitter
- EFHB p.Gly131Cys Uncertain significance Single submitter
- EFHB p.Gly271Cys Uncertain significance Single submitter
- EFHB p.Gly747Arg Uncertain significance Single submitter
- EFHB p.Ile617Val Uncertain significance Single submitter
- EFHB p.Ile734Phe Uncertain significance Single submitter
- EFHB p.Ile777Thr Uncertain significance Single submitter
- EFHB p.Lys367Glu Uncertain significance Single submitter
- EFHB p.Lys63Thr Uncertain significance Single submitter
- EFHB p.Ser751Leu Uncertain significance Single submitter
- EFHB p.Thr385Ala Uncertain significance Single submitter
- EFHB p.Thr385Ser Uncertain significance Single submitter
- EFHB p.Val447Ala Uncertain significance Single submitter
- EFHB p.Val480Ala Uncertain significance Single submitter
- EFHB p.Val551Ala Uncertain significance Single submitter
- EFHB p.Val809Ala Uncertain significance Single submitter
All EFHB variants
Likely benign 8
- p.Lys557Gln Multiple submitters
- p.Arg361Gln Single submitter
- p.Cys720Tyr Single submitter
- p.Gly135Glu Single submitter
- p.Gly762= Single submitter
- p.Ile236Thr Single submitter
- p.Met171Leu Single submitter
- p.Met3Val Single submitter
Uncertain significance 116
- p.Ala145Ser Single submitter ⚠
- p.Ala264Pro Single submitter ⚠
- p.Ala460Ser Single submitter ⚠
- p.Ala550Glu Single submitter ⚠
- p.Ala623Thr Single submitter ⚠
- p.Ala623Val Single submitter ⚠
- p.Ala749Ser Single submitter ⚠
- p.Arg19Lys Single submitter ⚠
- p.Arg245Leu Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg284Thr Single submitter ⚠
- p.Arg435Gln Single submitter ⚠
- p.Arg459Pro Single submitter ⚠
- p.Arg483Gly Single submitter ⚠
- p.Arg519Cys Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg552Gln Single submitter ⚠
- p.Arg552Trp Single submitter ⚠
- p.Arg685Gln Single submitter ⚠
- p.Arg685Trp Single submitter ⚠
- p.Arg735Gly Single submitter ⚠
- p.Arg735His Single submitter ⚠
- p.Arg736Cys Single submitter ⚠
- p.Arg772Ser Single submitter ⚠
- p.Asn338Ser Single submitter ⚠
- p.Asn507Ile Single submitter ⚠
- p.Asn613Ser Single submitter ⚠
- p.Asn618Asp Single submitter ⚠
- p.Asn78Thr Single submitter ⚠
- p.Asp14Asn Single submitter ⚠
- p.Asp203Glu Single submitter ⚠
- p.Asp256Glu Single submitter ⚠
- p.Asp370Tyr Single submitter ⚠
- p.Asp500Glu Single submitter ⚠
- p.Asp564Asn Single submitter ⚠
- p.Asp607His Single submitter ⚠
- p.Asp612His Single submitter ⚠
- p.Cys260Tyr Single submitter ⚠
- p.Cys512Arg Single submitter ⚠
- p.Cys512Ser Single submitter ⚠
- p.Cys650Ser Single submitter ⚠
- p.Gln492Arg Single submitter ⚠
- p.Gln544Glu Single submitter ⚠
- p.Glu114Asp Single submitter ⚠
- p.Glu191Gly Single submitter ⚠
- p.Glu200Gly Single submitter ⚠
- p.Glu412Asp Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Glu504Gly Single submitter ⚠
- p.Glu588Gln Single submitter ⚠
- p.Glu792Asp Single submitter ⚠
- p.Glu808Ala Single submitter ⚠
- p.Gly11Arg Single submitter ⚠
- p.Gly11Glu Single submitter ⚠
- p.Gly131Cys Single submitter ⚠
- p.Gly271Cys Single submitter ⚠
- p.Gly366Arg Single submitter ⚠
- p.Gly374Val Single submitter ⚠
- p.Gly458Arg Single submitter ⚠
- p.Gly747Arg Single submitter ⚠
- p.His369Arg Single submitter ⚠
- p.His417Arg Single submitter ⚠
- p.His469Arg Single submitter ⚠
- p.Ile186Val Single submitter ⚠
- p.Ile21Met Single submitter ⚠
- p.Ile249Met Single submitter ⚠
- p.Ile268Thr Single submitter ⚠
- p.Ile268Val Single submitter ⚠
- p.Ile617Val Single submitter ⚠
- p.Ile642Val Single submitter ⚠
- p.Ile672Thr Single submitter ⚠
- p.Ile734Phe Single submitter ⚠
- p.Ile777Thr Single submitter ⚠
- p.Ile784Val Single submitter ⚠
- p.Leu30Met Single submitter ⚠
- p.Leu595Phe Single submitter ⚠
- p.Lys367Glu Single submitter ⚠
- p.Lys52Glu Single submitter ⚠
- p.Lys52Thr Single submitter ⚠
- p.Lys541Glu Single submitter ⚠
- p.Lys63Thr Single submitter ⚠
- p.Lys693Asn Single submitter ⚠
- p.Lys693Glu Single submitter ⚠
- p.Met109Thr Single submitter ⚠
- p.Met212Val Single submitter ⚠
- p.Met379Ile Single submitter ⚠
- p.Phe606Cys Single submitter ⚠
- p.Phe606Val Single submitter ⚠
- p.Pro106Leu Single submitter ⚠
- p.Pro262Arg Single submitter ⚠
- p.Pro262Ser Single submitter ⚠
- p.Pro319Ser Single submitter ⚠
- p.Pro648Ser Single submitter ⚠
- p.Ser751Leu Single submitter ⚠
- p.Thr205Ala Single submitter ⚠
- p.Thr258Ala Single submitter ⚠
- p.Thr279Ile Single submitter ⚠
- p.Thr384Met Single submitter ⚠
- p.Thr385Ala Single submitter ⚠
- p.Thr385Ser Single submitter ⚠
- p.Trp797Arg Single submitter ⚠
- p.Tyr428His Single submitter ⚠
- p.Tyr560Asn Single submitter ⚠
- p.Tyr608Cys Single submitter ⚠
- p.Tyr637Cys Single submitter ⚠
- p.Tyr637Phe Single submitter ⚠
- p.Val154Ile Single submitter ⚠
- p.Val190Leu Single submitter ⚠
- p.Val192Met Single submitter ⚠
- p.Val447Ala Single submitter ⚠
- p.Val480Ala Single submitter ⚠
- p.Val551Ala Single submitter ⚠
- p.Val658Ile Single submitter ⚠
- p.Val796Ile Single submitter ⚠
- p.Val809Ala Single submitter ⚠
- p.Arg552fs No assertion criteria