EIF6 — 31 ClinVar variants
All ClinVar germline EIF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
5 Likely benign · 26 Uncertain significance
Full EIF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF6 p.Ala183Thr Uncertain significance Single submitter
- EIF6 p.Arg100Gln Uncertain significance Single submitter
- EIF6 p.Arg85Cys Uncertain significance Single submitter
- EIF6 p.Asp144Asn Uncertain significance Single submitter
- EIF6 p.Asp78Asn Uncertain significance Single submitter
- EIF6 p.Glu124Val Uncertain significance Single submitter
- EIF6 p.Gly30Asp Uncertain significance Single submitter
- EIF6 p.His162Pro Uncertain significance Single submitter
- EIF6 p.Ile53Val Uncertain significance Single submitter
- EIF6 p.Leu240Phe Uncertain significance Single submitter
- EIF6 p.Leu42Phe Uncertain significance Single submitter
- EIF6 p.Lys164Arg Uncertain significance Single submitter
- EIF6 p.Met62Ile Uncertain significance Single submitter
- EIF6 p.Met62Lys Uncertain significance Single submitter
- EIF6 p.Phe34Leu Uncertain significance Single submitter
- EIF6 p.Tyr113His Uncertain significance Single submitter
- EIF6 p.Val198Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EIF6 p.Arg85His Uncertain significance Single submitter
-
EIF6 p.Asn156Ser
Uncertain significance
Single submitter
exstrophy-epispadias complex
- EIF6 p.Asn9Thr Uncertain significance Single submitter
- EIF6 p.Gly55Ala Uncertain significance Single submitter
- EIF6 p.Ile167Thr Uncertain significance Single submitter
- EIF6 p.Lys18Arg Uncertain significance Single submitter
- EIF6 p.Ser190Gly Uncertain significance Single submitter
- EIF6 p.Ser235Gly Uncertain significance Single submitter
- EIF6 p.Thr91Ala Uncertain significance Single submitter
All EIF6 variants
Likely benign 5
- p.Ala51= Single submitter
- p.Ala54= Single submitter
- p.Phe222Cys Single submitter Shwachman–Diamond syndrome
- p.Thr76= Single submitter
- p.Tyr113= Single submitter
Uncertain significance 26
- p.Ala183Thr Single submitter ⚠
- p.Arg100Gln Single submitter ⚠
- p.Arg85Cys Single submitter ⚠
- p.Arg85His Single submitter ⚠
- p.Asn156Ser Single submitter exstrophy-epispadias complex ⚠
- p.Asn9Thr Single submitter ⚠
- p.Asp144Asn Single submitter ⚠
- p.Asp78Asn Single submitter ⚠
- p.Glu124Val Single submitter ⚠
- p.Gly30Asp Single submitter ⚠
- p.Gly55Ala Single submitter ⚠
- p.His162Pro Single submitter ⚠
- p.Ile167Thr Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Leu240Phe Single submitter ⚠
- p.Leu42Phe Single submitter ⚠
- p.Lys164Arg Single submitter ⚠
- p.Lys18Arg Single submitter ⚠
- p.Met62Ile Single submitter ⚠
- p.Met62Lys Single submitter ⚠
- p.Phe34Leu Single submitter ⚠
- p.Ser190Gly Single submitter ⚠
- p.Ser235Gly Single submitter ⚠
- p.Thr91Ala Single submitter ⚠
- p.Tyr113His Single submitter ⚠
- p.Val198Leu Single submitter ⚠