LIMK1 — 132 ClinVar variants
All ClinVar germline LIMK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 9 Benign · 3 Benign/Likely benign · 38 Likely benign · 79 Uncertain significance
Full LIMK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 77
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- LIMK1 p.Ala284Val Uncertain significance Single submitter
- LIMK1 p.Ala43Val Uncertain significance Single submitter
- LIMK1 p.Ala78Thr Uncertain significance Single submitter
- LIMK1 p.Ala78Val Uncertain significance Single submitter
- LIMK1 p.Arg315His Uncertain significance Single submitter
- LIMK1 p.Arg320Cys Uncertain significance Single submitter
- LIMK1 p.Arg329Gln Uncertain significance Single submitter
- LIMK1 p.Arg524His Uncertain significance Single submitter
- LIMK1 p.Arg585Cys Uncertain significance Single submitter
- LIMK1 p.Arg585His Uncertain significance Single submitter
- LIMK1 p.Asn410Thr Uncertain significance Single submitter
- LIMK1 p.Gln149His Uncertain significance Single submitter
- LIMK1 p.Gln290Leu Uncertain significance Single submitter
- LIMK1 p.Glu269Asp Uncertain significance Single submitter
- LIMK1 p.Glu375Asp Uncertain significance Single submitter
- LIMK1 p.Glu65Gly Uncertain significance Single submitter
- LIMK1 p.Gly121Arg Uncertain significance Single submitter
- LIMK1 p.Gly187Ser Uncertain significance Single submitter
- LIMK1 p.Gly19Glu Uncertain significance Single submitter
- LIMK1 p.Gly203Arg Uncertain significance Single submitter
- LIMK1 p.Gly220Arg Uncertain significance Single submitter
- LIMK1 p.Gly265Arg Uncertain significance Single submitter
- LIMK1 p.Gly309Val Uncertain significance Single submitter
- LIMK1 p.Gly351Ser Uncertain significance Single submitter
- LIMK1 p.Gly613Ser Uncertain significance Single submitter
- LIMK1 p.Gly638Arg Uncertain significance Single submitter
- LIMK1 p.His136Arg Uncertain significance Single submitter
- LIMK1 p.His264Pro Uncertain significance Single submitter
- LIMK1 p.His614Tyr Uncertain significance Single submitter
- LIMK1 p.His642Tyr Uncertain significance Single submitter
- LIMK1 p.Ile150Thr Uncertain significance Single submitter
- LIMK1 p.Leu382Phe Uncertain significance Single submitter
- LIMK1 p.Leu5Val Uncertain significance Single submitter
- LIMK1 p.Lys131Arg Uncertain significance Single submitter
- LIMK1 p.Lys398Arg Uncertain significance Single submitter
- LIMK1 p.Met209Ile Uncertain significance Single submitter
- LIMK1 p.Met485Thr Uncertain significance Single submitter
- LIMK1 p.Pro185Gln Uncertain significance Single submitter
- LIMK1 p.Pro206Leu Uncertain significance Single submitter
- LIMK1 p.Pro276Leu Uncertain significance Single submitter
- LIMK1 p.Pro303Leu Uncertain significance Single submitter
- LIMK1 p.Pro573Thr Uncertain significance Single submitter
- LIMK1 p.Pro643Thr Uncertain significance Single submitter
- LIMK1 p.Ser216Tyr Uncertain significance Single submitter
- LIMK1 p.Ser435Asn Uncertain significance Single submitter
- LIMK1 p.Thr162Ile Uncertain significance Single submitter
- LIMK1 p.Thr490Ile Uncertain significance Single submitter
- LIMK1 p.Thr631Ala Uncertain significance Single submitter
- LIMK1 p.Tyr33His Uncertain significance Single submitter
- LIMK1 p.Tyr570Ser Uncertain significance Single submitter
- LIMK1 p.Val163Asp Uncertain significance Single submitter
- LIMK1 p.Val199Ile Uncertain significance Single submitter
- LIMK1 p.Val219Ile Uncertain significance Single submitter
- LIMK1 p.Val326Ile Uncertain significance Single submitter
- LIMK1 p.Val584Gly Uncertain significance Single submitter
- LIMK1 p.Val598Met Uncertain significance Single submitter
- LIMK1 p.Val96Ile Uncertain significance Single submitter
-
LIMK1 p.Met609Ile
Uncertain significance
No assertion criteria
High myopia
Predictors split 18
The independent predictors disagree with each other — read with care.
- LIMK1 p.Arg176His Uncertain significance Single submitter
- LIMK1 p.Arg222Gln Uncertain significance Single submitter
- LIMK1 p.Arg320Ser Uncertain significance Single submitter
- LIMK1 p.Arg422Gln Benign Single submitter
- LIMK1 p.Arg545Gln Uncertain significance Single submitter
- LIMK1 p.Arg634His Uncertain significance Single submitter
- LIMK1 p.Asp34His Uncertain significance Single submitter
- LIMK1 p.Asp374Asn Uncertain significance Single submitter
- LIMK1 p.Asp67Asn Uncertain significance Single submitter
- LIMK1 p.Glu238Gln Uncertain significance Single submitter
- LIMK1 p.Glu343Lys Uncertain significance Single submitter
- LIMK1 p.Glu622Lys Uncertain significance Single submitter
- LIMK1 p.Gly94Glu Uncertain significance Single submitter
- LIMK1 p.Met485Ile Uncertain significance Single submitter
- LIMK1 p.Phe580Tyr Conflicting Single submitter
- LIMK1 p.Ser337Leu Uncertain significance Single submitter
- LIMK1 p.Tyr80His Uncertain significance Single submitter
- LIMK1 p.Val127Met Uncertain significance Single submitter
All LIMK1 variants
Pathogenic 1
- p.Gly511Ala No assertion criteria undetermined early-onset epileptic encephalopathy
Likely pathogenic 1
- p.Ala43Thr No assertion criteria ⚠
Conflicting classifications of pathogenicity 1
- p.Phe580Tyr Single submitter ⚠
Benign 9
- c.292-8C>G Multiple submitters
- p.Lys66Thr Multiple submitters
- c.608+10C>T Single submitter
- c.609-6C>A Single submitter
- p.Arg422Gln Single submitter ⚠
- p.Glu360= Single submitter
- p.Gly190Ala Single submitter
- p.Ser20= Single submitter
- c.1567+7G>A No assertion criteria LIMK1-related disorder
Benign/Likely benign 3
- p.Arg469= Multiple submitters
- p.His259Gln Multiple submitters
- p.Ile537= Multiple submitters
Likely benign 38
- p.Gly207Asp Multiple submitters
- p.Thr113= Multiple submitters
- c.1345-8G>A Single submitter
- c.1568-4C>G Single submitter
- c.1568-6A>T Single submitter
- c.292-8C>T Single submitter
- c.715-6C>A Single submitter
- p.Ala612= Single submitter
- p.Arg200= Single submitter
- p.Arg248= Single submitter
- p.Asn42= Single submitter
- p.Asn547= Single submitter
- p.Asn562= Single submitter
- p.Asp183= Single submitter
- p.Asp48= Single submitter
- p.Cys134= Single submitter
- p.Gln620= Single submitter
- p.Glu128= Single submitter
- p.His186= Single submitter
- p.Leu254= Single submitter
- p.Leu262= Single submitter
- p.Leu624= Single submitter
- p.Pro106= Single submitter
- p.Pro189= Single submitter
- p.Pro336= Single submitter
- p.Pro591= Single submitter
- p.Ser281= Single submitter
- p.Ser337= Single submitter
- p.Ser60= Single submitter
- p.Thr380= Single submitter
- p.Thr556= Single submitter
- p.Thr583= Single submitter
- p.Val24Met Single submitter
- c.*1G>A No assertion criteria LIMK1-related disorder
- p.Ala482= No assertion criteria LIMK1-related disorder
- p.Gln244= No assertion criteria LIMK1-related disorder
- p.His642= No assertion criteria LIMK1-related disorder
- p.Thr229= No assertion criteria LIMK1-related disorder
Uncertain significance 79
- c.882-1G>A Single submitter
- p.Ala284Val Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg176His Single submitter ⚠
- p.Arg222Gln Single submitter ⚠
- p.Arg315His Single submitter ⚠
- p.Arg320Cys Single submitter ⚠
- p.Arg320Ser Single submitter ⚠
- p.Arg329Gln Single submitter ⚠
- p.Arg469His Single submitter
- p.Arg524His Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg585Cys Single submitter ⚠
- p.Arg585His Single submitter ⚠
- p.Arg634His Single submitter ⚠
- p.Asn410Thr Single submitter ⚠
- p.Asn512Ser Single submitter
- p.Asp34His Single submitter ⚠
- p.Asp374Asn Single submitter ⚠
- p.Asp67Asn Single submitter ⚠
- p.Gln149His Single submitter ⚠
- p.Gln290Leu Single submitter ⚠
- p.Glu238Gln Single submitter ⚠
- p.Glu269Asp Single submitter ⚠
- p.Glu343Lys Single submitter ⚠
- p.Glu375Asp Single submitter ⚠
- p.Glu622Lys Single submitter ⚠
- p.Glu65Gly Single submitter ⚠
- p.Gly121Arg Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Gly19Glu Single submitter ⚠
- p.Gly203Arg Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly265Arg Single submitter ⚠
- p.Gly309Val Single submitter ⚠
- p.Gly351Ser Single submitter ⚠
- p.Gly613Ser Single submitter ⚠
- p.Gly638Arg Single submitter ⚠
- p.Gly94Glu Single submitter ⚠
- p.His136Arg Single submitter ⚠
- p.His264Pro Single submitter ⚠
- p.His614Tyr Single submitter ⚠
- p.His642Tyr Single submitter ⚠
- p.Ile150Thr Single submitter ⚠
- p.Ile354Leu Single submitter
- p.Leu382Phe Single submitter ⚠
- p.Leu5Val Single submitter ⚠
- p.Lys131Arg Single submitter ⚠
- p.Lys398Arg Single submitter ⚠
- p.Met209Ile Single submitter ⚠
- p.Met485Ile Single submitter ⚠
- p.Met485Thr Single submitter ⚠
- p.Pro145Ala Single submitter
- p.Pro185Gln Single submitter ⚠
- p.Pro206Leu Single submitter ⚠
- p.Pro276Leu Single submitter ⚠
- p.Pro303Leu Single submitter ⚠
- p.Pro573Thr Single submitter ⚠
- p.Pro643Thr Single submitter ⚠
- p.Ser216Tyr Single submitter ⚠
- p.Ser337Leu Single submitter ⚠
- p.Ser435Asn Single submitter ⚠
- p.Thr162Ile Single submitter ⚠
- p.Thr490Ile Single submitter ⚠
- p.Thr631Ala Single submitter ⚠
- p.Tyr33His Single submitter ⚠
- p.Tyr570Ser Single submitter ⚠
- p.Tyr80His Single submitter ⚠
- p.Val127Met Single submitter ⚠
- p.Val163Asp Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val219Ile Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val584Gly Single submitter ⚠
- p.Val598Met Single submitter ⚠
- p.Val96Ile Single submitter ⚠
- p.Met609Ile No assertion criteria High myopia ⚠