AMIGO1 — 37 ClinVar variants
All ClinVar germline AMIGO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Benign · 36 Uncertain significance
Full AMIGO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMIGO1 p.Ala277Ser Uncertain significance Single submitter
- AMIGO1 p.Ala36Asp Uncertain significance Single submitter
- AMIGO1 p.Arg276His Uncertain significance Single submitter
- AMIGO1 p.Arg29Gln Uncertain significance Single submitter
- AMIGO1 p.Arg440Gln Uncertain significance Single submitter
- AMIGO1 p.Arg475Lys Uncertain significance Single submitter
- AMIGO1 p.Asn461Ile Uncertain significance Single submitter
- AMIGO1 p.Asp250Glu Uncertain significance Single submitter
- AMIGO1 p.Glu272Val Uncertain significance Single submitter
- AMIGO1 p.Glu404Lys Uncertain significance Single submitter
- AMIGO1 p.Gly181Glu Uncertain significance Single submitter
- AMIGO1 p.Gly28Ser Uncertain significance Single submitter
- AMIGO1 p.Gly379Asp Uncertain significance Single submitter
- AMIGO1 p.Gly402Asp Uncertain significance Single submitter
- AMIGO1 p.Gly411Ala Uncertain significance Single submitter
- AMIGO1 p.Gly436Ala Uncertain significance Single submitter
- AMIGO1 p.Ile381Val Uncertain significance Single submitter
- AMIGO1 p.Leu184Val Uncertain significance Single submitter
- AMIGO1 p.Lys257Arg Uncertain significance Single submitter
- AMIGO1 p.Pro203Leu Uncertain significance Single submitter
- AMIGO1 p.Pro446Ser Uncertain significance Single submitter
- AMIGO1 p.Pro449Ser Uncertain significance Single submitter
- AMIGO1 p.Pro53Leu Uncertain significance Single submitter
- AMIGO1 p.Ser107Phe Uncertain significance Single submitter
- AMIGO1 p.Thr303Ala Uncertain significance Single submitter
- AMIGO1 p.Thr422Ser Uncertain significance Single submitter
- AMIGO1 p.Thr489Met Uncertain significance Single submitter
- AMIGO1 p.Trp399Arg Uncertain significance Single submitter
- AMIGO1 p.Val313Met Uncertain significance Single submitter
- AMIGO1 p.Val320Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- AMIGO1 p.Arg397Ser Uncertain significance Single submitter
- AMIGO1 p.Glu275Lys Uncertain significance Single submitter
- AMIGO1 p.Glu307Asp Uncertain significance Single submitter
- AMIGO1 p.Pro108Leu Uncertain significance Single submitter
- AMIGO1 p.Thr83Arg Uncertain significance Single submitter
- AMIGO1 p.Val31Met Uncertain significance Single submitter
All AMIGO1 variants
Benign 1
- p.Ala25Thr Multiple submitters
Uncertain significance 36
- p.Ala277Ser Single submitter ⚠
- p.Ala36Asp Single submitter ⚠
- p.Arg276His Single submitter ⚠
- p.Arg29Gln Single submitter ⚠
- p.Arg397Ser Single submitter ⚠
- p.Arg440Gln Single submitter ⚠
- p.Arg475Lys Single submitter ⚠
- p.Asn461Ile Single submitter ⚠
- p.Asp250Glu Single submitter ⚠
- p.Glu272Val Single submitter ⚠
- p.Glu275Lys Single submitter ⚠
- p.Glu307Asp Single submitter ⚠
- p.Glu404Lys Single submitter ⚠
- p.Gly181Glu Single submitter ⚠
- p.Gly28Ser Single submitter ⚠
- p.Gly379Asp Single submitter ⚠
- p.Gly402Asp Single submitter ⚠
- p.Gly411Ala Single submitter ⚠
- p.Gly436Ala Single submitter ⚠
- p.Ile381Val Single submitter ⚠
- p.Leu184Val Single submitter ⚠
- p.Lys257Arg Single submitter ⚠
- p.Pro108Leu Single submitter ⚠
- p.Pro203Leu Single submitter ⚠
- p.Pro446Ser Single submitter ⚠
- p.Pro449Ser Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Ser107Phe Single submitter ⚠
- p.Thr303Ala Single submitter ⚠
- p.Thr422Ser Single submitter ⚠
- p.Thr489Met Single submitter ⚠
- p.Thr83Arg Single submitter ⚠
- p.Trp399Arg Single submitter ⚠
- p.Val313Met Single submitter ⚠
- p.Val31Met Single submitter ⚠
- p.Val320Met Single submitter ⚠