AMOTL2 — 143 ClinVar variants

All ClinVar germline AMOTL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

2 Benign · 1 Benign/Likely benign · 1 Likely benign · 139 Uncertain significance

Full AMOTL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 83

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

Predictors split 56

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

All AMOTL2 variants

Benign 2

p.Ala520Val Single submitter ⚠
p.Arg454= Single submitter

Benign/Likely benign 1

p.Arg173Gln Multiple submitters

Likely benign 1

p.Gly281Ser Single submitter

Uncertain significance 139

p.Arg369His Multiple submitters ⚠
p.Ala118Gly Single submitter ⚠
p.Ala122Thr Single submitter ⚠
p.Ala174Val Single submitter ⚠
p.Ala242Thr Single submitter ⚠
p.Ala304Thr Single submitter ⚠
p.Ala339Val Single submitter ⚠
p.Ala472Ser Single submitter ⚠
p.Ala492Ser Single submitter ⚠
p.Ala520Asp Single submitter ⚠
p.Ala528Thr Single submitter ⚠
p.Ala545Ser Single submitter ⚠
p.Ala657Ser Single submitter ⚠
p.Ala69Thr Single submitter ⚠
p.Ala714Gly Single submitter ⚠
p.Ala720Val Single submitter ⚠
p.Arg125Gln Single submitter ⚠
p.Arg125Trp Single submitter ⚠
p.Arg131Gln Single submitter ⚠
p.Arg148Gln Single submitter ⚠
p.Arg14Cys Single submitter ⚠
p.Arg161Gln Single submitter ⚠
p.Arg189Cys Single submitter ⚠
p.Arg21Cys Single submitter ⚠
p.Arg230Gln Single submitter ⚠
p.Arg230Trp Single submitter ⚠
p.Arg234His Single submitter ⚠
p.Arg234Ser Single submitter ⚠
p.Arg29Cys Single submitter ⚠
p.Arg29His Single submitter ⚠
p.Arg330Gln Single submitter ⚠
p.Arg330Trp Single submitter ⚠
p.Arg344His Single submitter ⚠
p.Arg354Gln Single submitter ⚠
p.Arg354Leu Single submitter ⚠
p.Arg377Gln Single submitter ⚠
p.Arg377Trp Single submitter ⚠
p.Arg392Trp Single submitter ⚠
p.Arg395Ser Single submitter ⚠
p.Arg403Ser Single submitter ⚠
p.Arg439Gln Single submitter ⚠
p.Arg439Gly Single submitter ⚠
p.Arg445Cys Single submitter ⚠
p.Arg445Gly Single submitter ⚠
p.Arg445His Single submitter ⚠
p.Arg453Gln Single submitter ⚠
p.Arg453Gly Single submitter ⚠
p.Arg453Trp Single submitter ⚠
p.Arg468Gln Single submitter ⚠
p.Arg471Gln Single submitter ⚠
p.Arg477Cys Single submitter ⚠
p.Arg477His Single submitter ⚠
p.Arg509Cys Single submitter ⚠
p.Arg513His Single submitter ⚠
p.Arg547Gln Single submitter ⚠
p.Arg553Gln Single submitter ⚠
p.Arg553Gly Single submitter ⚠
p.Arg577His Single submitter ⚠
p.Arg594Cys Single submitter ⚠
p.Arg600Gln Single submitter ⚠
p.Arg651Gly Single submitter ⚠
p.Arg652Ser Single submitter ⚠
p.Arg698Gly Single submitter ⚠
p.Arg704Gly Single submitter ⚠
p.Arg93Trp Single submitter ⚠
p.Asn328Ser Single submitter ⚠
p.Asn378Thr Single submitter ⚠
p.Asn612Ser Single submitter ⚠
p.Asp130Tyr Single submitter ⚠
p.Gln17Glu Single submitter ⚠
p.Gln191His Single submitter ⚠
p.Gln212Arg Single submitter ⚠
p.Gln261Pro Single submitter ⚠
p.Gln434Leu Single submitter ⚠
p.Gln593Arg Single submitter ⚠
p.Gln604His Single submitter ⚠
p.Gln648Arg Single submitter ⚠
p.Gln68Lys Single submitter ⚠
p.Gln77His Single submitter ⚠
p.Glu168Lys Single submitter ⚠
p.Glu202Lys Single submitter ⚠
p.Glu435Gln Single submitter ⚠
p.Glu435Lys Single submitter ⚠
p.Glu449Lys Single submitter ⚠
p.Glu456Lys Single submitter ⚠
p.Glu473Gln Single submitter ⚠
p.Glu613Asp Single submitter ⚠
p.Gly123Arg Single submitter ⚠
p.Gly446Ser Single submitter ⚠
p.Gly536Val Single submitter ⚠
p.Gly614Val Single submitter ⚠
p.Gly81Val Single submitter ⚠
p.Gly82Cys Single submitter ⚠
p.Gly82Ser Single submitter ⚠
p.His127Gln Single submitter ⚠
p.His271Tyr Single submitter ⚠
p.His276Gln Single submitter ⚠
p.His282Arg Single submitter ⚠
p.His601Gln Single submitter ⚠
p.Ile352Met Single submitter ⚠
p.Leu187Met Single submitter ⚠
p.Leu546Pro Single submitter ⚠
p.Lys374Asn Single submitter ⚠
p.Lys555del Single submitter
p.Met419Val Single submitter ⚠
p.Pro137Leu Single submitter ⚠
p.Pro200Leu Single submitter ⚠
p.Pro204Leu Single submitter ⚠
p.Pro209Thr Single submitter ⚠
p.Pro237Arg Single submitter ⚠
p.Pro273Ser Single submitter ⚠
p.Pro284Leu Single submitter ⚠
p.Pro607Leu Single submitter ⚠
p.Pro654Leu Single submitter ⚠
p.Pro710Ser Single submitter ⚠
p.Pro735Arg Single submitter ⚠
p.Pro735Gln Single submitter ⚠
p.Ser206Phe Single submitter ⚠
p.Ser287Thr Single submitter ⚠
p.Ser287Tyr Single submitter ⚠
p.Ser366Ala Single submitter ⚠
p.Ser367Ala Single submitter ⚠
p.Ser667Leu Single submitter ⚠
p.Ser670Phe Single submitter ⚠
p.Ser773Ala Single submitter ⚠
p.Ser8Leu Single submitter ⚠
p.Thr10Ile Single submitter ⚠
p.Thr222Ile Single submitter ⚠
p.Thr28Ser Single submitter ⚠
p.Thr30Ala Single submitter ⚠
p.Thr589Ala Single submitter ⚠
p.Thr597Ser Single submitter ⚠
p.Thr731Ile Single submitter ⚠
p.Thr738Ile Single submitter ⚠
p.Tyr213Cys Single submitter ⚠
p.Val155Met Single submitter ⚠
p.Val317Met Single submitter ⚠
p.Val420Met Single submitter ⚠
p.Val668Leu Single submitter ⚠