AGMO — 151 ClinVar variants
All ClinVar germline AGMO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →
2 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 11 Benign · 1 Benign/Likely benign · 10 Likely benign · 122 Uncertain significance
Full AGMO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 106
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 84
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AGMO p.Arg133Cys Uncertain significance Multiple submitters
- AGMO p.Arg83Gln Uncertain significance Multiple submitters
- AGMO p.Gly238Cys Uncertain significance Multiple submitters
- AGMO p.Gly322Ser Uncertain significance Multiple submitters
- AGMO p.Ile281Val Uncertain significance Multiple submitters
- AGMO p.Leu213Val Uncertain significance Multiple submitters
- AGMO p.Lys234Arg Uncertain significance Multiple submitters
- AGMO p.Lys24Glu Uncertain significance Multiple submitters
- AGMO p.Pro218Leu Uncertain significance Multiple submitters
- AGMO p.Pro326Leu Uncertain significance Multiple submitters
- AGMO p.Tyr350Cys Uncertain significance Multiple submitters
- AGMO p.Ala159Thr Uncertain significance Single submitter
- AGMO p.Ala390Gly Uncertain significance Single submitter
- AGMO p.Arg161Lys Uncertain significance Single submitter
- AGMO p.Arg229His Uncertain significance Single submitter
- AGMO p.Arg396His Uncertain significance Single submitter
- AGMO p.Arg405Leu Uncertain significance Single submitter
- AGMO p.Asn108His Uncertain significance Single submitter
-
AGMO p.Asn207Lys
Uncertain significance
Single submitter
AGMO-related Neurodevelopmental disorder
- AGMO p.Asn235Thr Uncertain significance Single submitter
- AGMO p.Asp356Glu Uncertain significance Single submitter
- AGMO p.Asp70Asn Uncertain significance Single submitter
- AGMO p.Asp9Tyr Uncertain significance Single submitter
- AGMO p.Glu352Lys Uncertain significance Single submitter
- AGMO p.Glu35Gln Uncertain significance Single submitter
- AGMO p.Gly322Asp Uncertain significance Single submitter
- AGMO p.Gly79Val Uncertain significance Single submitter
- AGMO p.His132Arg Uncertain significance Single submitter
- AGMO p.His225Arg Uncertain significance Single submitter
- AGMO p.His225Tyr Uncertain significance Single submitter
- AGMO p.Ile181Val Uncertain significance Single submitter
- AGMO p.Ile232Lys Uncertain significance Single submitter
- AGMO p.Ile241Thr Uncertain significance Single submitter
- AGMO p.Ile242Thr Uncertain significance Single submitter
- AGMO p.Ile242Val Uncertain significance Single submitter
- AGMO p.Ile281Met Uncertain significance Single submitter
- AGMO p.Ile337Leu Uncertain significance Single submitter
- AGMO p.Ile372Met Uncertain significance Single submitter
- AGMO p.Ile372Val Uncertain significance Single submitter
- AGMO p.Ile379Met Uncertain significance Single submitter
- AGMO p.Ile426Val Uncertain significance Single submitter
- AGMO p.Leu122Ser Uncertain significance Single submitter
- AGMO p.Leu160Pro Uncertain significance Single submitter
- AGMO p.Leu177Val Uncertain significance Single submitter
- AGMO p.Leu215Arg Uncertain significance Single submitter
- AGMO p.Leu313Val Uncertain significance Single submitter
- AGMO p.Leu345Val Uncertain significance Single submitter
- AGMO p.Leu366Phe Uncertain significance Single submitter
- AGMO p.Leu376Val Uncertain significance Single submitter
- AGMO p.Leu383Val Uncertain significance Single submitter
-
AGMO p.Leu412Ile
Uncertain significance
Single submitter
AGMO-related disorder
- AGMO p.Leu50Met Uncertain significance Single submitter
- AGMO p.Leu87Ile Uncertain significance Single submitter
- AGMO p.Lys24Asn Uncertain significance Single submitter
- AGMO p.Lys388Arg Uncertain significance Single submitter
- AGMO p.Met436Thr Uncertain significance Single submitter
- AGMO p.Phe107Leu Uncertain significance Single submitter
- AGMO p.Phe180Cys Uncertain significance Single submitter
- AGMO p.Phe198Ile Uncertain significance Single submitter
- AGMO p.Phe30Ser Uncertain significance Single submitter
- AGMO p.Phe420Val Uncertain significance Single submitter
- AGMO p.Pro182Thr Uncertain significance Single submitter
- AGMO p.Pro264Ala Uncertain significance Single submitter
-
AGMO p.Pro264Ser
Uncertain significance
Single submitter
AGMO-related disorder
- AGMO p.Pro302Leu Uncertain significance Single submitter
- AGMO p.Pro414Ser Uncertain significance Single submitter
- AGMO p.Pro443Arg Uncertain significance Single submitter
- AGMO p.Ser11Thr Uncertain significance Single submitter
- AGMO p.Ser175Phe Uncertain significance Single submitter
- AGMO p.Ser86Gly Uncertain significance Single submitter
- AGMO p.Ser96Thr Uncertain significance Single submitter
- AGMO p.Thr202Ile Uncertain significance Single submitter
- AGMO p.Thr217Ala Uncertain significance Single submitter
- AGMO p.Thr22Met Uncertain significance Single submitter
- AGMO p.Thr249Ala Uncertain significance Single submitter
- AGMO p.Thr284Ala Uncertain significance Single submitter
- AGMO p.Thr32Ile Uncertain significance Single submitter
- AGMO p.Tyr154Cys Uncertain significance Single submitter
- AGMO p.Tyr259Cys Uncertain significance Single submitter
- AGMO p.Val204Leu Uncertain significance Single submitter
- AGMO p.Val341Ile Uncertain significance Single submitter
- AGMO p.Val56Leu Uncertain significance Single submitter
- AGMO p.Val57Ile Uncertain significance Single submitter
-
AGMO p.Pro302Ser
Uncertain significance
No assertion criteria
AGMO-related disorder
Predictors split 21
The independent predictors disagree with each other — read with care.
- AGMO p.Ala287Pro Uncertain significance Single submitter
- AGMO p.Arg68His Uncertain significance Single submitter
- AGMO p.Asn139Ser Uncertain significance Single submitter
- AGMO p.Asn228Asp Uncertain significance Single submitter
- AGMO p.Asp125Glu Uncertain significance Single submitter
- AGMO p.Asp153Ala Uncertain significance Single submitter
- AGMO p.Gln191His Uncertain significance Single submitter
- AGMO p.Gly238Ala Uncertain significance Single submitter
- AGMO p.His276Pro Uncertain significance Single submitter
- AGMO p.Leu208Phe Uncertain significance Single submitter
- AGMO p.Leu215Val Uncertain significance Single submitter
- AGMO p.Phe131Leu Uncertain significance Single submitter
- AGMO p.Phe268Leu Uncertain significance Single submitter
- AGMO p.Phe285Leu Uncertain significance Single submitter
- AGMO p.Pro183Ala Uncertain significance Single submitter
- AGMO p.Pro37Ser Uncertain significance Single submitter
- AGMO p.Ser361Leu Uncertain significance Single submitter
- AGMO p.Ser49Tyr Uncertain significance Single submitter
- AGMO p.Thr28Ile Uncertain significance Single submitter
-
AGMO p.Ser219Cys
Uncertain significance
No assertion criteria
AGMO-related disorder
-
AGMO p.Thr284Ile
Benign
No assertion criteria
AGMO-related disorder
All AGMO variants
Pathogenic 2
- p.Glu324fs Single submitter
- p.Asn266fs No assertion criteria hypercholesterolemia, familial, 1
Likely pathogenic 3
- p.Tyr236del Multiple submitters AGMO-related Neurodevelopmental disorder
- c.957_957+18del Single submitter
- c.958-1G>C Single submitter
Conflicting classifications of pathogenicity 2
- p.Arg405Ter Single submitter
- p.Gln31Arg Single submitter ⚠
Benign 11
- p.Thr202= Multiple submitters
- p.Tyr21fs Multiple submitters
- c.823-12dup Single submitter
- p.Ala143= Single submitter
- p.Asp9Val Single submitter
- p.Gln8Glu Single submitter
- p.Gly407= Single submitter
- p.Ile200Phe Single submitter
- p.Leu395Val No assertion criteria AGMO-related disorder
- p.Ser280Tyr No assertion criteria AGMO-related disorder
- p.Thr284Ile No assertion criteria AGMO-related disorder ⚠
Benign/Likely benign 1
- p.Ile337Met Multiple submitters
Likely benign 10
- p.Arg405Gln Multiple submitters
- p.Phe173= Multiple submitters
- c.1075-19C>A Single submitter
- p.Asn108Ser Single submitter
- p.Lys272Arg Single submitter
- p.Phe279Val Single submitter
- p.Thr357Ala Single submitter
- c.1074+10A>G No assertion criteria AGMO-related disorder
- p.His408= No assertion criteria AGMO-related disorder
- p.Thr394Ser No assertion criteria AGMO-related disorder
Uncertain significance 122
- p.Arg133Cys Multiple submitters ⚠
- p.Arg83Gln Multiple submitters ⚠
- p.Gly238Cys Multiple submitters ⚠
- p.Gly322Ser Multiple submitters ⚠
- p.Ile281Val Multiple submitters ⚠
- p.Leu213Val Multiple submitters ⚠
- p.Lys234Arg Multiple submitters ⚠
- p.Lys24Glu Multiple submitters ⚠
- p.Pro218Leu Multiple submitters ⚠
- p.Pro326Leu Multiple submitters ⚠
- p.Tyr350Cys Multiple submitters ⚠
- c.1263+1dup Single submitter
- c.1263+8del Single submitter
- c.676+5_676+11del Single submitter
- c.677-3_677-2del Single submitter
- p.Ala159Thr Single submitter ⚠
- p.Ala287Pro Single submitter ⚠
- p.Ala390Gly Single submitter ⚠
- p.Ala43Thr Single submitter
- p.Arg161Lys Single submitter ⚠
- p.Arg229His Single submitter ⚠
- p.Arg396His Single submitter ⚠
- p.Arg405Leu Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Asn108His Single submitter ⚠
- p.Asn139Ser Single submitter ⚠
- p.Asn207Lys Single submitter AGMO-related Neurodevelopmental disorder ⚠
- p.Asn228Asp Single submitter ⚠
- p.Asn235Thr Single submitter ⚠
- p.Asp125Glu Single submitter ⚠
- p.Asp153Ala Single submitter ⚠
- p.Asp356Glu Single submitter ⚠
- p.Asp70Asn Single submitter ⚠
- p.Asp9Tyr Single submitter ⚠
- p.Gln191His Single submitter ⚠
- p.Gln362fs Single submitter
- p.Glu324Ter Single submitter
- p.Glu352Lys Single submitter ⚠
- p.Glu35Gln Single submitter ⚠
- p.Gly238Ala Single submitter ⚠
- p.Gly307_Lys308insTer Single submitter
- p.Gly322Asp Single submitter ⚠
- p.Gly79Val Single submitter ⚠
- p.His132Arg Single submitter ⚠
- p.His225Arg Single submitter ⚠
- p.His225Tyr Single submitter ⚠
- p.His276Pro Single submitter ⚠
- p.Ile181Val Single submitter ⚠
- p.Ile232Lys Single submitter ⚠
- p.Ile241Thr Single submitter ⚠
- p.Ile242Thr Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Ile281Met Single submitter ⚠
- p.Ile337Leu Single submitter ⚠
- p.Ile372Met Single submitter ⚠
- p.Ile372Val Single submitter ⚠
- p.Ile379Met Single submitter ⚠
- p.Ile426Val Single submitter ⚠
- p.Leu122Ser Single submitter ⚠
- p.Leu156Ile Single submitter
- p.Leu160Pro Single submitter ⚠
- p.Leu177Val Single submitter ⚠
- p.Leu208Phe Single submitter ⚠
- p.Leu215Arg Single submitter ⚠
- p.Leu215Val Single submitter ⚠
- p.Leu313Val Single submitter ⚠
- p.Leu345Val Single submitter ⚠
- p.Leu366Phe Single submitter ⚠
- p.Leu367del Single submitter AGMO-related Neurodevelopmental disorder
- p.Leu376Val Single submitter ⚠
- p.Leu383Val Single submitter ⚠
- p.Leu412Ile Single submitter AGMO-related disorder ⚠
- p.Leu439fs Single submitter
- p.Leu50Met Single submitter ⚠
- p.Leu87Ile Single submitter ⚠
- p.Lys24Asn Single submitter ⚠
- p.Lys388Arg Single submitter ⚠
- p.Met436Thr Single submitter ⚠
- p.Phe107Leu Single submitter ⚠
- p.Phe131Leu Single submitter ⚠
- p.Phe180Cys Single submitter ⚠
- p.Phe198Ile Single submitter ⚠
- p.Phe268Leu Single submitter ⚠
- p.Phe285Leu Single submitter ⚠
- p.Phe30Ser Single submitter ⚠
- p.Phe420Val Single submitter ⚠
- p.Pro182Thr Single submitter ⚠
- p.Pro183Ala Single submitter ⚠
- p.Pro264Ala Single submitter ⚠
- p.Pro264Ser Single submitter AGMO-related disorder ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro37Ser Single submitter ⚠
- p.Pro414Ser Single submitter ⚠
- p.Pro443Arg Single submitter ⚠
- p.Ser11Thr Single submitter ⚠
- p.Ser175Phe Single submitter ⚠
- p.Ser361Leu Single submitter ⚠
- p.Ser49Tyr Single submitter ⚠
- p.Ser86Gly Single submitter ⚠
- p.Ser96Thr Single submitter ⚠
- p.Thr202Ile Single submitter ⚠
- p.Thr217Ala Single submitter ⚠
- p.Thr22Met Single submitter ⚠
- p.Thr249Ala Single submitter ⚠
- p.Thr284Ala Single submitter ⚠
- p.Thr28Ile Single submitter ⚠
- p.Thr32Ile Single submitter ⚠
- p.Thr339fs Single submitter
- p.Trp111Gly Single submitter
- p.Trp111Ser Single submitter
- p.Trp130Ter Single submitter
- p.Trp282fs Single submitter
- p.Tyr154Cys Single submitter ⚠
- p.Tyr259Cys Single submitter ⚠
- p.Tyr338His Single submitter
- p.Val204Leu Single submitter ⚠
- p.Val341Ile Single submitter ⚠
- p.Val56Leu Single submitter ⚠
- p.Val57Ile Single submitter ⚠
- p.Phe295fs No assertion criteria AGMO-related disorder
- p.Pro302Ser No assertion criteria AGMO-related disorder ⚠
- p.Ser219Cys No assertion criteria AGMO-related disorder ⚠