AMN1 — 33 ClinVar variants
All ClinVar germline AMN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
2 Likely benign · 31 Uncertain significance
Full AMN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMN1 p.Arg5Gln Uncertain significance Single submitter
- AMN1 p.Arg6Pro Uncertain significance Single submitter
- AMN1 p.Asn206Ser Uncertain significance Single submitter
- AMN1 p.Asp72Asn Uncertain significance Single submitter
- AMN1 p.Gln170Arg Uncertain significance Single submitter
- AMN1 p.Gln49His Uncertain significance Single submitter
- AMN1 p.Ile145Val Uncertain significance Single submitter
- AMN1 p.Ile224Leu Uncertain significance Single submitter
- AMN1 p.Ile29Val Uncertain significance Single submitter
- AMN1 p.Leu11Arg Uncertain significance Single submitter
- AMN1 p.Leu66Val Uncertain significance Single submitter
- AMN1 p.Leu79Gln Uncertain significance Single submitter
- AMN1 p.Met46Ile Uncertain significance Single submitter
- AMN1 p.Met46Val Uncertain significance Single submitter
- AMN1 p.Pro34Ser Uncertain significance Single submitter
- AMN1 p.Ser153Arg Uncertain significance Single submitter
- AMN1 p.Thr217Ile Uncertain significance Single submitter
- AMN1 p.Tyr218Ser Uncertain significance Single submitter
- AMN1 p.Val205Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- AMN1 p.Ala109Ser Uncertain significance Single submitter
- AMN1 p.Arg223Pro Uncertain significance Single submitter
- AMN1 p.Arg3Cys Uncertain significance Single submitter
- AMN1 p.Arg69Leu Uncertain significance Single submitter
- AMN1 p.Arg85Gly Uncertain significance Single submitter
- AMN1 p.Leu216Phe Uncertain significance Single submitter
- AMN1 p.Leu81Met Uncertain significance Single submitter
- AMN1 p.Met201Val Uncertain significance Single submitter
- AMN1 p.Pro191Thr Uncertain significance Single submitter
- AMN1 p.Ser45Thr Uncertain significance Single submitter
- AMN1 p.Trp255Arg Uncertain significance Single submitter
- AMN1 p.Val157Gly Uncertain significance Single submitter
All AMN1 variants
Likely benign 2
- p.Ser112= Single submitter
- p.Val100Ile Single submitter
Uncertain significance 31
- p.Ala109Ser Single submitter ⚠
- p.Arg223Pro Single submitter ⚠
- p.Arg3Cys Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg69Leu Single submitter ⚠
- p.Arg6Pro Single submitter ⚠
- p.Arg85Gly Single submitter ⚠
- p.Asn206Ser Single submitter ⚠
- p.Asp72Asn Single submitter ⚠
- p.Gln170Arg Single submitter ⚠
- p.Gln49His Single submitter ⚠
- p.Ile145Val Single submitter ⚠
- p.Ile224Leu Single submitter ⚠
- p.Ile29Val Single submitter ⚠
- p.Leu11Arg Single submitter ⚠
- p.Leu216Phe Single submitter ⚠
- p.Leu66Val Single submitter ⚠
- p.Leu79Gln Single submitter ⚠
- p.Leu81Met Single submitter ⚠
- p.Met201Val Single submitter ⚠
- p.Met46Ile Single submitter ⚠
- p.Met46Val Single submitter ⚠
- p.Pro191Thr Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Ser153Arg Single submitter ⚠
- p.Ser45Thr Single submitter ⚠
- p.Thr217Ile Single submitter ⚠
- p.Trp255Arg Single submitter ⚠
- p.Tyr218Ser Single submitter ⚠
- p.Val157Gly Single submitter ⚠
- p.Val205Ile Single submitter ⚠