FER — 78 ClinVar variants
All ClinVar germline FER variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
5 Benign · 5 Likely benign · 68 Uncertain significance
Full FER gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FER p.Ala272Thr Uncertain significance Single submitter
- FER p.Ala313Gly Uncertain significance Single submitter
- FER p.Ala438Ser Uncertain significance Single submitter
- FER p.Ala89Thr Uncertain significance Single submitter
- FER p.Arg417Ser Uncertain significance Single submitter
- FER p.Arg707His Uncertain significance Single submitter
- FER p.Asn148Ile Uncertain significance Single submitter
- FER p.Asn261Ser Uncertain significance Single submitter
- FER p.Asn66Ser Uncertain significance Single submitter
- FER p.Asp19His Uncertain significance Single submitter
- FER p.Asp227Val Uncertain significance Single submitter
- FER p.Cys50Tyr Uncertain significance Single submitter
- FER p.Gln108Arg Uncertain significance Single submitter
- FER p.Gln109Leu Uncertain significance Single submitter
- FER p.Gln18Lys Uncertain significance Single submitter
- FER p.Glu252Gln Uncertain significance Single submitter
- FER p.Glu339Ala Uncertain significance Single submitter
- FER p.Glu787Gly Uncertain significance Single submitter
- FER p.Gly440Arg Uncertain significance Single submitter
- FER p.Ile202Val Uncertain significance Single submitter
- FER p.Ile225Val Uncertain significance Single submitter
- FER p.Ile564Val Uncertain significance Single submitter
- FER p.Ile724Val Uncertain significance Single submitter
- FER p.Ile748Val Uncertain significance Single submitter
- FER p.Leu284Val Uncertain significance Single submitter
- FER p.Leu547Val Uncertain significance Single submitter
- FER p.Lys310Glu Uncertain significance Single submitter
- FER p.Lys795Gln Uncertain significance Single submitter
- FER p.Lys86Arg Uncertain significance Single submitter
- FER p.Met102Thr Uncertain significance Single submitter
- FER p.Met176Val Uncertain significance Single submitter
- FER p.Met249Val Uncertain significance Single submitter
- FER p.Met308Val Uncertain significance Single submitter
- FER p.Met317Thr Uncertain significance Single submitter
- FER p.Met32Ile Uncertain significance Single submitter
- FER p.Met32Val Uncertain significance Single submitter
- FER p.Met637Thr Uncertain significance Single submitter
- FER p.Met637Val Uncertain significance Single submitter
- FER p.Pro782Ala Uncertain significance Single submitter
- FER p.Ser408Thr Uncertain significance Single submitter
- FER p.Ser44Cys Uncertain significance Single submitter
- FER p.Thr164Pro Uncertain significance Single submitter
- FER p.Thr281Ala Uncertain significance Single submitter
- FER p.Thr343Ile Uncertain significance Single submitter
- FER p.Thr533Arg Uncertain significance Single submitter
- FER p.Thr815Ala Uncertain significance Single submitter
- FER p.Tyr497His Uncertain significance Single submitter
- FER p.Val482Gly Uncertain significance Single submitter
- FER p.Val510Gly Uncertain significance Single submitter
- FER p.Val53Ala Uncertain significance Single submitter
- FER p.Val545Phe Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- FER p.Asp459Asn Uncertain significance Single submitter
- FER p.Asp562Asn Uncertain significance Single submitter
-
FER p.Gln629His
Uncertain significance
Single submitter
Duane retraction syndrome
- FER p.Gly116Arg Uncertain significance Single submitter
- FER p.Gly543Ser Uncertain significance Single submitter
- FER p.Ile528Leu Uncertain significance Single submitter
- FER p.Leu558Phe Uncertain significance Single submitter
- FER p.Pro489Leu Uncertain significance Single submitter
- FER p.Ser234Arg Uncertain significance Single submitter
- FER p.Ser250Leu Uncertain significance Single submitter
-
FER p.Thr628Ile
Uncertain significance
Single submitter
Duane retraction syndrome
All FER variants
Benign 5
- c.482-3dup Single submitter
- p.Ile350Thr Single submitter
- p.Ser745= Single submitter
- p.Thr519= Single submitter
- p.Tyr63= Single submitter
Likely benign 5
- p.Ile557Val Single submitter
- p.Ile564Thr Single submitter
- p.Ile816Val Single submitter
- p.Leu547= Single submitter
- p.Met447Val Single submitter
Uncertain significance 68
- p.Ala272Thr Single submitter ⚠
- p.Ala313Gly Single submitter ⚠
- p.Ala438Ser Single submitter ⚠
- p.Ala89Thr Single submitter ⚠
- p.Arg417Ser Single submitter ⚠
- p.Arg707His Single submitter ⚠
- p.Asn148Ile Single submitter ⚠
- p.Asn261Ser Single submitter ⚠
- p.Asn66Ser Single submitter ⚠
- p.Asp19His Single submitter ⚠
- p.Asp227Val Single submitter ⚠
- p.Asp459Asn Single submitter ⚠
- p.Asp562Asn Single submitter ⚠
- p.Cys50Tyr Single submitter ⚠
- p.Gln108Arg Single submitter ⚠
- p.Gln109Leu Single submitter ⚠
- p.Gln18Lys Single submitter ⚠
- p.Gln629His Single submitter Duane retraction syndrome ⚠
- p.Glu252Gln Single submitter ⚠
- p.Glu339Ala Single submitter ⚠
- p.Glu787Gly Single submitter ⚠
- p.Gly116Arg Single submitter ⚠
- p.Gly440Arg Single submitter ⚠
- p.Gly543Ser Single submitter ⚠
- p.His179Leu Single submitter
- p.Ile202Val Single submitter ⚠
- p.Ile225Val Single submitter ⚠
- p.Ile528Leu Single submitter ⚠
- p.Ile564Val Single submitter ⚠
- p.Ile724Val Single submitter ⚠
- p.Ile748Val Single submitter ⚠
- p.Leu284Val Single submitter ⚠
- p.Leu547Val Single submitter ⚠
- p.Leu558Phe Single submitter ⚠
- p.Lys310Glu Single submitter ⚠
- p.Lys387Glu Single submitter
- p.Lys795Gln Single submitter ⚠
- p.Lys86Arg Single submitter ⚠
- p.Met102Thr Single submitter ⚠
- p.Met176Val Single submitter ⚠
- p.Met214Thr Single submitter
- p.Met249Val Single submitter ⚠
- p.Met308Val Single submitter ⚠
- p.Met317Thr Single submitter ⚠
- p.Met32Ile Single submitter ⚠
- p.Met32Val Single submitter ⚠
- p.Met637Thr Single submitter ⚠
- p.Met637Val Single submitter ⚠
- p.Pro489Leu Single submitter ⚠
- p.Pro525Ser Single submitter
- p.Pro782Ala Single submitter ⚠
- p.Ser234Arg Single submitter ⚠
- p.Ser250Leu Single submitter ⚠
- p.Ser340Pro Single submitter
- p.Ser408Thr Single submitter ⚠
- p.Ser44Cys Single submitter ⚠
- p.Thr164Pro Single submitter ⚠
- p.Thr281Ala Single submitter ⚠
- p.Thr343Ile Single submitter ⚠
- p.Thr533Arg Single submitter ⚠
- p.Thr628Ile Single submitter Duane retraction syndrome ⚠
- p.Thr815Ala Single submitter ⚠
- p.Tyr497His Single submitter ⚠
- p.Val482Gly Single submitter ⚠
- p.Val510Asp Single submitter
- p.Val510Gly Single submitter ⚠
- p.Val53Ala Single submitter ⚠
- p.Val545Phe Single submitter ⚠