AMD1 — 22 ClinVar variants
All ClinVar germline AMD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
22 Uncertain significance
Full AMD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMD1 p.Arg168Gln Uncertain significance Single submitter
- AMD1 p.Arg210Cys Uncertain significance Single submitter
- AMD1 p.Arg210His Uncertain significance Single submitter
- AMD1 p.Arg269Gly Uncertain significance Single submitter
- AMD1 p.Asn316Ser Uncertain significance Single submitter
- AMD1 p.Gln329Pro Uncertain significance Single submitter
- AMD1 p.Gln333Glu Uncertain significance Single submitter
- AMD1 p.Ile134Thr Uncertain significance Single submitter
- AMD1 p.Lys56Arg Uncertain significance Single submitter
- AMD1 p.Lys59Gln Uncertain significance Single submitter
- AMD1 p.Met222Val Uncertain significance Single submitter
- AMD1 p.Pro23Ala Uncertain significance Single submitter
- AMD1 p.Ser171Thr Uncertain significance Single submitter
- AMD1 p.Thr323Ala Uncertain significance Single submitter
- AMD1 p.Thr84Ile Uncertain significance Single submitter
- AMD1 p.Thr85Asn Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- AMD1 p.Arg307His Uncertain significance Single submitter
- AMD1 p.Leu97Ile Uncertain significance Single submitter
- AMD1 p.Pro186Leu Uncertain significance Single submitter
- AMD1 p.Ser102Arg Uncertain significance Single submitter
- AMD1 p.Thr238Ile Uncertain significance Single submitter
- AMD1 p.Val295Met Uncertain significance Single submitter
All AMD1 variants
Uncertain significance 22
- p.Arg168Gln Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg269Gly Single submitter ⚠
- p.Arg307His Single submitter ⚠
- p.Asn316Ser Single submitter ⚠
- p.Gln329Pro Single submitter ⚠
- p.Gln333Glu Single submitter ⚠
- p.Ile134Thr Single submitter ⚠
- p.Leu97Ile Single submitter ⚠
- p.Lys56Arg Single submitter ⚠
- p.Lys59Gln Single submitter ⚠
- p.Met222Val Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Pro23Ala Single submitter ⚠
- p.Ser102Arg Single submitter ⚠
- p.Ser171Thr Single submitter ⚠
- p.Thr238Ile Single submitter ⚠
- p.Thr323Ala Single submitter ⚠
- p.Thr84Ile Single submitter ⚠
- p.Thr85Asn Single submitter ⚠
- p.Val295Met Single submitter ⚠