AMIGO3 — 98 ClinVar variants

All ClinVar germline AMIGO3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

1 Benign · 5 Likely benign · 92 Uncertain significance

Full AMIGO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 55

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

Predictors split 37

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

All AMIGO3 variants

Benign 1

p.Arg418_Trp419insCysArgArg Single submitter

Likely benign 5

p.Ala258Thr Single submitter
p.Ala347= Single submitter
p.Arg260= Single submitter
p.Glu202Asp Single submitter
p.Ser498= Single submitter

Uncertain significance 92

p.Ala108Thr Single submitter ⚠
p.Ala123Val Single submitter ⚠
p.Ala205Gly Single submitter ⚠
p.Ala333Thr Single submitter ⚠
p.Ala347Thr Single submitter ⚠
p.Ala41Thr Single submitter ⚠
p.Ala493Ser Single submitter ⚠
p.Ala493Thr Single submitter ⚠
p.Arg102Cys Single submitter ⚠
p.Arg122Gly Single submitter ⚠
p.Arg126His Single submitter ⚠
p.Arg233His Single submitter ⚠
p.Arg243His Single submitter ⚠
p.Arg247Ser Single submitter ⚠
p.Arg268His Single submitter ⚠
p.Arg268Ser Single submitter ⚠
p.Arg283Leu Single submitter ⚠
p.Arg29His Single submitter ⚠
p.Arg308Ser Single submitter ⚠
p.Arg358Cys Single submitter ⚠
p.Arg408Gly Single submitter ⚠
p.Arg408His Single submitter ⚠
p.Arg412Gly Single submitter ⚠
p.Arg415His Single submitter ⚠
p.Arg418His Single submitter ⚠
p.Asn143Lys Single submitter ⚠
p.Asn212Ser Single submitter ⚠
p.Asn465Ser Single submitter ⚠
p.Asp115Ala Single submitter ⚠
p.Asp175His Single submitter ⚠
p.Asp244Tyr Single submitter ⚠
p.Asp442Asn Single submitter ⚠
p.Cys166Arg Single submitter ⚠
p.Cys352Gly Single submitter ⚠
p.Cys38Gly Single submitter ⚠
p.Gln265Arg Single submitter ⚠
p.Gln469His Single submitter ⚠
p.Glu24Asp Single submitter ⚠
p.Glu271Asp Single submitter ⚠
p.Glu282Gln Single submitter ⚠
p.Glu317Asp Single submitter ⚠
p.Glu366Gln Single submitter ⚠
p.Glu379Lys Single submitter ⚠
p.Gly125Ser Single submitter ⚠
p.Gly131Val Single submitter ⚠
p.Gly179Arg Single submitter ⚠
p.Gly394Ser Single submitter ⚠
p.Gly489Ser Single submitter ⚠
p.Gly51Arg Single submitter ⚠
p.His151Tyr Single submitter ⚠
p.His154Arg Single submitter ⚠
p.His176Asn Single submitter ⚠
p.His266Tyr Single submitter ⚠
p.His91Leu Single submitter ⚠
p.Ile39Asn Single submitter ⚠
p.Leu121Ser Single submitter ⚠
p.Leu135Val Single submitter ⚠
p.Leu296Pro Single submitter ⚠
p.Leu318Val Single submitter ⚠
p.Leu319Arg Single submitter ⚠
p.Leu332Pro Single submitter ⚠
p.Leu470Gln Single submitter ⚠
p.Leu484Pro Single submitter ⚠
p.Leu59Ser Single submitter ⚠
p.Lys452Asn Single submitter ⚠
p.Lys487Arg Single submitter ⚠
p.Met13Ile Single submitter ⚠
p.Met13Thr Single submitter ⚠
p.Phe105Leu Single submitter ⚠
p.Pro207Thr Single submitter ⚠
p.Pro220Ser Single submitter ⚠
p.Pro257Leu Single submitter ⚠
p.Pro406Arg Single submitter ⚠
p.Pro56Ala Single submitter ⚠
p.Ser173Pro Single submitter ⚠
p.Ser240Asn Single submitter ⚠
p.Ser240Gly Single submitter ⚠
p.Ser69Thr Single submitter ⚠
p.Thr302Asn Single submitter ⚠
p.Thr386Asn Single submitter ⚠
p.Thr387Ala Single submitter ⚠
p.Thr438Ile Single submitter ⚠
p.Thr48Ile Single submitter ⚠
p.Thr9Ser Single submitter ⚠
p.Val200Leu Single submitter ⚠
p.Val261Met Single submitter ⚠
p.Val351Leu Single submitter ⚠
p.Val371Ala Single submitter ⚠
p.Val454Leu Single submitter ⚠
p.Val455Gly Single submitter ⚠
p.Val455Leu Single submitter ⚠
p.Val472Ala Single submitter ⚠