ANKLE1 — 123 ClinVar variants
All ClinVar germline ANKLE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
7 Benign · 9 Likely benign · 107 Uncertain significance
Full ANKLE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKLE1 p.Ala143Thr Uncertain significance Single submitter
- ANKLE1 p.Ala207Val Uncertain significance Single submitter
- ANKLE1 p.Ala341Ser Uncertain significance Single submitter
- ANKLE1 p.Ala341Thr Uncertain significance Single submitter
- ANKLE1 p.Ala474Thr Uncertain significance Single submitter
- ANKLE1 p.Ala5Ser Uncertain significance Single submitter
- ANKLE1 p.Ala76Glu Uncertain significance Single submitter
- ANKLE1 p.Ala83Val Uncertain significance Single submitter
- ANKLE1 p.Arg126Gln Uncertain significance Single submitter
- ANKLE1 p.Arg12Pro Uncertain significance Single submitter
- ANKLE1 p.Arg140Pro Uncertain significance Single submitter
- ANKLE1 p.Arg16Trp Uncertain significance Single submitter
- ANKLE1 p.Arg274His Uncertain significance Single submitter
- ANKLE1 p.Arg371Gln Uncertain significance Single submitter
- ANKLE1 p.Arg415Gln Uncertain significance Single submitter
- ANKLE1 p.Arg467Pro Uncertain significance Single submitter
- ANKLE1 p.Asn258Ile Uncertain significance Single submitter
- ANKLE1 p.Asp162His Uncertain significance Single submitter
- ANKLE1 p.Asp463Glu Uncertain significance Single submitter
- ANKLE1 p.Cys317Tyr Uncertain significance Single submitter
- ANKLE1 p.Gln396His Uncertain significance Single submitter
- ANKLE1 p.Glu17Ala Uncertain significance Single submitter
- ANKLE1 p.Glu375Gly Uncertain significance Single submitter
- ANKLE1 p.Gly142Arg Uncertain significance Single submitter
- ANKLE1 p.Gly189Arg Uncertain significance Single submitter
- ANKLE1 p.Gly345Ser Uncertain significance Single submitter
- ANKLE1 p.Gly351Asp Uncertain significance Single submitter
- ANKLE1 p.Gly532Asp Uncertain significance Single submitter
- ANKLE1 p.Gly87Val Uncertain significance Single submitter
- ANKLE1 p.His253Arg Uncertain significance Single submitter
- ANKLE1 p.His45Arg Uncertain significance Single submitter
- ANKLE1 p.His505Gln Uncertain significance Single submitter
- ANKLE1 p.His537Arg Uncertain significance Single submitter
- ANKLE1 p.His592Gln Uncertain significance Single submitter
- ANKLE1 p.Ile141Val Uncertain significance Single submitter
- ANKLE1 p.Ile484Val Uncertain significance Single submitter
- ANKLE1 p.Ile611Leu Uncertain significance Single submitter
- ANKLE1 p.Met295Thr Uncertain significance Single submitter
- ANKLE1 p.Met331Thr Uncertain significance Single submitter
- ANKLE1 p.Phe221Leu Uncertain significance Single submitter
- ANKLE1 p.Pro188Leu Uncertain significance Single submitter
- ANKLE1 p.Pro190Leu Uncertain significance Single submitter
- ANKLE1 p.Pro239Arg Uncertain significance Single submitter
- ANKLE1 p.Pro262Ala Uncertain significance Single submitter
- ANKLE1 p.Pro312Ser Uncertain significance Single submitter
- ANKLE1 p.Pro465Leu Uncertain significance Single submitter
- ANKLE1 p.Pro513Leu Uncertain significance Single submitter
- ANKLE1 p.Ser3Leu Uncertain significance Single submitter
- ANKLE1 p.Ser470Leu Uncertain significance Single submitter
- ANKLE1 p.Thr281Asn Uncertain significance Single submitter
- ANKLE1 p.Thr360Ser Uncertain significance Single submitter
- ANKLE1 p.Tyr453His Uncertain significance Single submitter
- ANKLE1 p.Val225Ala Uncertain significance Single submitter
- ANKLE1 p.Val261Ile Uncertain significance Single submitter
- ANKLE1 p.Val446Ile Uncertain significance Single submitter
- ANKLE1 p.Val487Met Uncertain significance Single submitter
Predictors split 55
The independent predictors disagree with each other — read with care.
- ANKLE1 p.Ala103Val Uncertain significance Single submitter
- ANKLE1 p.Ala372Thr Uncertain significance Single submitter
- ANKLE1 p.Ala395Val Uncertain significance Single submitter
- ANKLE1 p.Ala428Gly Uncertain significance Single submitter
- ANKLE1 p.Ala428Val Uncertain significance Single submitter
- ANKLE1 p.Ala544Thr Uncertain significance Single submitter
- ANKLE1 p.Ala544Val Uncertain significance Single submitter
- ANKLE1 p.Ala581Gly Uncertain significance Single submitter
- ANKLE1 p.Ala8Thr Uncertain significance Single submitter
- ANKLE1 p.Arg140Gln Uncertain significance Single submitter
- ANKLE1 p.Arg354Trp Likely benign Single submitter
- ANKLE1 p.Arg467Gln Uncertain significance Single submitter
- ANKLE1 p.Arg476His Uncertain significance Single submitter
- ANKLE1 p.Arg482Cys Uncertain significance Single submitter
- ANKLE1 p.Arg482His Likely benign Single submitter
- ANKLE1 p.Arg494Trp Uncertain significance Single submitter
- ANKLE1 p.Arg521His Uncertain significance Single submitter
- ANKLE1 p.Arg550Gln Uncertain significance Single submitter
- ANKLE1 p.Arg582His Uncertain significance Single submitter
- ANKLE1 p.Arg583His Uncertain significance Single submitter
- ANKLE1 p.Arg584Trp Uncertain significance Single submitter
- ANKLE1 p.Arg585His Uncertain significance Single submitter
- ANKLE1 p.Arg593Cys Uncertain significance Single submitter
- ANKLE1 p.Arg593His Uncertain significance Single submitter
- ANKLE1 p.Arg72Gly Uncertain significance Single submitter
- ANKLE1 p.Asn70Ser Uncertain significance Single submitter
- ANKLE1 p.Asp132His Uncertain significance Single submitter
- ANKLE1 p.Gln462Glu Uncertain significance Single submitter
- ANKLE1 p.Glu149Lys Uncertain significance Single submitter
- ANKLE1 p.Glu25Lys Uncertain significance Single submitter
- ANKLE1 p.Glu348Lys Uncertain significance Single submitter
- ANKLE1 p.Glu402Lys Uncertain significance Single submitter
- ANKLE1 p.Gly530Asp Uncertain significance Single submitter
- ANKLE1 p.Gly532Ser Uncertain significance Single submitter
- ANKLE1 p.Gly559Ala Uncertain significance Single submitter
- ANKLE1 p.Gly66Asp Uncertain significance Single submitter
- ANKLE1 p.Gly91Cys Uncertain significance Single submitter
- ANKLE1 p.His514Tyr Uncertain significance Single submitter
- ANKLE1 p.Leu27Val Uncertain significance Single submitter
- ANKLE1 p.Leu37Pro Uncertain significance Single submitter
- ANKLE1 p.Leu387Phe Likely benign Single submitter
- ANKLE1 p.Pro102Ser Uncertain significance Single submitter
- ANKLE1 p.Pro239His Uncertain significance Single submitter
- ANKLE1 p.Pro349His Uncertain significance Single submitter
- ANKLE1 p.Pro53Leu Uncertain significance Single submitter
- ANKLE1 p.Ser535Cys Uncertain significance Single submitter
- ANKLE1 p.Thr223Pro Uncertain significance Single submitter
- ANKLE1 p.Thr237Ile Uncertain significance Single submitter
- ANKLE1 p.Thr333Met Uncertain significance Single submitter
- ANKLE1 p.Thr384Ile Uncertain significance Single submitter
- ANKLE1 p.Thr416Met Uncertain significance Single submitter
- ANKLE1 p.Thr562Met Likely benign Single submitter
- ANKLE1 p.Trp335Cys Uncertain significance Single submitter
- ANKLE1 p.Val127Ile Uncertain significance Single submitter
- ANKLE1 p.Val534Leu Uncertain significance Single submitter
All ANKLE1 variants
Benign 7
- c.461-109C>A Multiple submitters
- c.*132G>T Multiple submitters
- p.Leu524Val Multiple submitters
- p.Pro160Ser Multiple submitters
- p.Val447Met Multiple submitters
- c.*140_*143del Single submitter
- c.*96GT[20] Single submitter
Likely benign 9
- c.*96GT[13] Single submitter
- p.Arg308Gln Single submitter
- p.Arg354Trp Single submitter ⚠
- p.Arg482His Single submitter ⚠
- p.Gly49Arg Single submitter
- p.Leu387Phe Single submitter ⚠
- p.Pro150Ala Single submitter
- p.Thr562Met Single submitter ⚠
- p.Val446= Single submitter
Uncertain significance 107
- p.Ala103Val Single submitter ⚠
- p.Ala143Thr Single submitter ⚠
- p.Ala207Val Single submitter ⚠
- p.Ala341Ser Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Ala372Thr Single submitter ⚠
- p.Ala395Val Single submitter ⚠
- p.Ala428Gly Single submitter ⚠
- p.Ala428Val Single submitter ⚠
- p.Ala474Thr Single submitter ⚠
- p.Ala544Thr Single submitter ⚠
- p.Ala544Val Single submitter ⚠
- p.Ala581Gly Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Ala76Glu Single submitter ⚠
- p.Ala83Val Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Arg126Gln Single submitter ⚠
- p.Arg12Pro Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg140Pro Single submitter ⚠
- p.Arg16Trp Single submitter ⚠
- p.Arg274His Single submitter ⚠
- p.Arg371Gln Single submitter ⚠
- p.Arg415Gln Single submitter ⚠
- p.Arg467Gln Single submitter ⚠
- p.Arg467Pro Single submitter ⚠
- p.Arg476His Single submitter ⚠
- p.Arg482Cys Single submitter ⚠
- p.Arg494Trp Single submitter ⚠
- p.Arg521His Single submitter ⚠
- p.Arg550Gln Single submitter ⚠
- p.Arg582His Single submitter ⚠
- p.Arg583His Single submitter ⚠
- p.Arg584Trp Single submitter ⚠
- p.Arg585His Single submitter ⚠
- p.Arg593Cys Single submitter ⚠
- p.Arg593His Single submitter ⚠
- p.Arg72Gly Single submitter ⚠
- p.Asn258Ile Single submitter ⚠
- p.Asn70Ser Single submitter ⚠
- p.Asp132His Single submitter ⚠
- p.Asp162His Single submitter ⚠
- p.Asp463Glu Single submitter ⚠
- p.Cys317Tyr Single submitter ⚠
- p.Gln396His Single submitter ⚠
- p.Gln462Glu Single submitter ⚠
- p.Glu149Lys Single submitter ⚠
- p.Glu17Ala Single submitter ⚠
- p.Glu25Lys Single submitter ⚠
- p.Glu348Lys Single submitter ⚠
- p.Glu375Gly Single submitter ⚠
- p.Glu402Lys Single submitter ⚠
- p.Gly142Arg Single submitter ⚠
- p.Gly189Arg Single submitter ⚠
- p.Gly345Ser Single submitter ⚠
- p.Gly351Asp Single submitter ⚠
- p.Gly530Asp Single submitter ⚠
- p.Gly532Asp Single submitter ⚠
- p.Gly532Ser Single submitter ⚠
- p.Gly559Ala Single submitter ⚠
- p.Gly66Asp Single submitter ⚠
- p.Gly87Val Single submitter ⚠
- p.Gly91Cys Single submitter ⚠
- p.His253Arg Single submitter ⚠
- p.His45Arg Single submitter ⚠
- p.His505Gln Single submitter ⚠
- p.His514Tyr Single submitter ⚠
- p.His537Arg Single submitter ⚠
- p.His592Gln Single submitter ⚠
- p.Ile141Val Single submitter ⚠
- p.Ile484Val Single submitter ⚠
- p.Ile611Leu Single submitter ⚠
- p.Leu27Val Single submitter ⚠
- p.Leu37Pro Single submitter ⚠
- p.Met295Thr Single submitter ⚠
- p.Met331Thr Single submitter ⚠
- p.Phe221Leu Single submitter ⚠
- p.Pro102Ser Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro239Arg Single submitter ⚠
- p.Pro239His Single submitter ⚠
- p.Pro262Ala Single submitter ⚠
- p.Pro312Ser Single submitter ⚠
- p.Pro349His Single submitter ⚠
- p.Pro465Leu Single submitter ⚠
- p.Pro513Leu Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Ser3Leu Single submitter ⚠
- p.Ser470Leu Single submitter ⚠
- p.Ser535Cys Single submitter ⚠
- p.Thr223Pro Single submitter ⚠
- p.Thr237Ile Single submitter ⚠
- p.Thr281Asn Single submitter ⚠
- p.Thr333Met Single submitter ⚠
- p.Thr360Ser Single submitter ⚠
- p.Thr384Ile Single submitter ⚠
- p.Thr416Met Single submitter ⚠
- p.Trp335Cys Single submitter ⚠
- p.Tyr453His Single submitter ⚠
- p.Val127Ile Single submitter ⚠
- p.Val225Ala Single submitter ⚠
- p.Val261Ile Single submitter ⚠
- p.Val446Ile Single submitter ⚠
- p.Val487Met Single submitter ⚠
- p.Val534Leu Single submitter ⚠