ARL14EP — 34 ClinVar variants

All ClinVar germline ARL14EP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →

1 Likely pathogenic · 2 Benign · 4 Likely benign · 27 Uncertain significance

Full ARL14EP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 27

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 23

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 4

The independent predictors disagree with each other — read with care.

All ARL14EP variants

Likely pathogenic 1

p.Gly218Glu Single submitter microcephaly

Benign 2

c.427-6C>A Multiple submitters
p.Thr180Pro Single submitter

Likely benign 4

p.Gln160= Single submitter
p.Phe203= Single submitter
p.Thr14= Single submitter
p.Val92= Single submitter

Uncertain significance 27

p.Ala181Thr Single submitter ⚠
p.Arg134Leu Single submitter ⚠
p.Arg174Lys Single submitter ⚠
p.Arg239Cys Single submitter ⚠
p.Arg24Cys Single submitter ⚠
p.Arg45Gly Single submitter ⚠
p.Asn89Ser Single submitter ⚠
p.Asp128Gly Single submitter ⚠
p.Asp133Gly Single submitter ⚠
p.Cys209Arg Single submitter ⚠
p.Gln153Pro Single submitter ⚠
p.Gly112Ala Single submitter ⚠
p.Gly168Ser Single submitter ⚠
p.Gly168Val Single submitter ⚠
p.Gly47Val Single submitter ⚠
p.Ile81Val Single submitter ⚠
p.Met39Lys Single submitter ⚠
p.Met39Thr Single submitter ⚠
p.Phe154Cys Single submitter ⚠
p.Pro165Leu Single submitter ⚠
p.Thr131Ala Single submitter ⚠
p.Thr161Ile Single submitter ⚠
p.Thr23Ala Single submitter ⚠
p.Thr49Ser Single submitter ⚠
p.Tyr195Cys Single submitter ⚠
p.Tyr21Phe Single submitter ⚠
p.Val7Ala Single submitter ⚠