AMPH — 95 ClinVar variants
All ClinVar germline AMPH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
2 Benign · 14 Likely benign · 79 Uncertain significance
Full AMPH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMPH p.Ala10Thr Uncertain significance Single submitter
- AMPH p.Ala169Gly Uncertain significance Single submitter
- AMPH p.Ala287Thr Uncertain significance Single submitter
- AMPH p.Ala430Val Uncertain significance Single submitter
- AMPH p.Ala475Gly Uncertain significance Single submitter
- AMPH p.Ala494Val Uncertain significance Single submitter
- AMPH p.Ala520Thr Uncertain significance Single submitter
- AMPH p.Ala527Gly Uncertain significance Single submitter
- AMPH p.Ala600Pro Uncertain significance Single submitter
- AMPH p.Arg134Cys Uncertain significance Single submitter
- AMPH p.Arg16Gly Uncertain significance Single submitter
- AMPH p.Arg256Ser Uncertain significance Single submitter
- AMPH p.Arg290Gln Uncertain significance Single submitter
- AMPH p.Arg92Trp Uncertain significance Single submitter
- AMPH p.Asn204Ser Uncertain significance Single submitter
- AMPH p.Asp32Val Uncertain significance Single submitter
- AMPH p.Asp571Gly Uncertain significance Single submitter
- AMPH p.Gln21Pro Uncertain significance Single submitter
- AMPH p.Gln608Glu Uncertain significance Single submitter
- AMPH p.Glu556Gln Uncertain significance Single submitter
- AMPH p.Glu558Lys Uncertain significance Single submitter
- AMPH p.Gly398Val Uncertain significance Single submitter
- AMPH p.Gly478Val Uncertain significance Single submitter
- AMPH p.His217Arg Uncertain significance Single submitter
- AMPH p.His238Gln Uncertain significance Single submitter
- AMPH p.Ile512Met Uncertain significance Single submitter
- AMPH p.Ile545Val Uncertain significance Single submitter
- AMPH p.Ile8Val Uncertain significance Single submitter
- AMPH p.Leu119Ile Uncertain significance Single submitter
- AMPH p.Leu25Phe Uncertain significance Single submitter
- AMPH p.Leu270Arg Uncertain significance Single submitter
- AMPH p.Lys178Glu Uncertain significance Single submitter
- AMPH p.Pro294Ser Uncertain significance Single submitter
- AMPH p.Pro302Ser Uncertain significance Single submitter
- AMPH p.Pro305Thr Uncertain significance Single submitter
- AMPH p.Pro440Ala Uncertain significance Single submitter
- AMPH p.Pro582Ser Uncertain significance Single submitter
- AMPH p.Pro620Ser Uncertain significance Single submitter
- AMPH p.Ser164Gly Uncertain significance Single submitter
- AMPH p.Ser522Gly Uncertain significance Single submitter
- AMPH p.Thr379Ser Uncertain significance Single submitter
- AMPH p.Thr456Ala Uncertain significance Single submitter
- AMPH p.Thr568Ser Uncertain significance Single submitter
- AMPH p.Val209Ile Uncertain significance Single submitter
- AMPH p.Val209Phe Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- AMPH p.Thr586Met Likely benign Multiple submitters
- AMPH p.Ala239Ser Uncertain significance Single submitter
- AMPH p.Ala248Val Uncertain significance Single submitter
- AMPH p.Ala284Val Uncertain significance Single submitter
- AMPH p.Arg457Trp Uncertain significance Single submitter
- AMPH p.Arg58Gln Uncertain significance Single submitter
- AMPH p.Arg61Gln Uncertain significance Single submitter
- AMPH p.Arg693Pro Uncertain significance Single submitter
- AMPH p.Arg92Gln Uncertain significance Single submitter
- AMPH p.Asp474Asn Uncertain significance Single submitter
- AMPH p.Gln174Arg Uncertain significance Single submitter
- AMPH p.Gln237Lys Uncertain significance Single submitter
- AMPH p.Gln595Arg Uncertain significance Single submitter
- AMPH p.Glu362Lys Uncertain significance Single submitter
- AMPH p.Glu434Gly Uncertain significance Single submitter
- AMPH p.Glu515Asp Uncertain significance Single submitter
- AMPH p.Glu546Gln Uncertain significance Single submitter
- AMPH p.Glu570Asp Likely benign Single submitter
- AMPH p.Gly235Asp Uncertain significance Single submitter
- AMPH p.Ile257Met Uncertain significance Single submitter
- AMPH p.Ile321Val Uncertain significance Single submitter
- AMPH p.Lys346Glu Uncertain significance Single submitter
- AMPH p.Phe403Ser Uncertain significance Single submitter
- AMPH p.Pro271Leu Uncertain significance Single submitter
- AMPH p.Pro291Ser Uncertain significance Single submitter
- AMPH p.Pro302Thr Uncertain significance Single submitter
- AMPH p.Pro394Leu Uncertain significance Single submitter
- AMPH p.Pro432His Uncertain significance Single submitter
- AMPH p.Pro440Leu Uncertain significance Single submitter
- AMPH p.Ser542Leu Uncertain significance Single submitter
- AMPH p.Thr232Ala Uncertain significance Single submitter
- AMPH p.Thr386Met Likely benign Single submitter
- AMPH p.Thr409Ile Uncertain significance Single submitter
- AMPH p.Thr445Lys Uncertain significance Single submitter
- AMPH p.Thr479Ile Uncertain significance Single submitter
- AMPH p.Val448Ile Uncertain significance Single submitter
- AMPH p.Val477Ile Uncertain significance Single submitter
All AMPH variants
Benign 2
- p.Ala484Ser Single submitter
- p.Met376Ile Single submitter
Likely benign 14
- c.1017+10T>C Multiple submitters
- p.Thr586Met Multiple submitters ⚠
- c.1158+9C>T Single submitter
- p.Ala284= Single submitter
- p.Ala494= Single submitter
- p.Ala572Thr Single submitter
- p.Arg19= Single submitter
- p.Arg457Gln Single submitter
- p.Arg48Trp Single submitter
- p.Glu570Asp Single submitter ⚠
- p.Gly519Val Single submitter
- p.Ser338= Single submitter
- p.Thr260= Single submitter
- p.Thr386Met Single submitter ⚠
Uncertain significance 79
- p.Ala10Thr Single submitter ⚠
- p.Ala169Gly Single submitter ⚠
- p.Ala239Ser Single submitter ⚠
- p.Ala248Val Single submitter ⚠
- p.Ala284Val Single submitter ⚠
- p.Ala287Thr Single submitter ⚠
- p.Ala430Val Single submitter ⚠
- p.Ala475Gly Single submitter ⚠
- p.Ala494Val Single submitter ⚠
- p.Ala520Thr Single submitter ⚠
- p.Ala527Gly Single submitter ⚠
- p.Ala600Pro Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg16Gly Single submitter ⚠
- p.Arg256Ser Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg457Trp Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Arg693Pro Single submitter ⚠
- p.Arg92Gln Single submitter ⚠
- p.Arg92Trp Single submitter ⚠
- p.Asn204Ser Single submitter ⚠
- p.Asp32Val Single submitter ⚠
- p.Asp474Asn Single submitter ⚠
- p.Asp571Gly Single submitter ⚠
- p.Gln174Arg Single submitter ⚠
- p.Gln21Pro Single submitter ⚠
- p.Gln237Lys Single submitter ⚠
- p.Gln595Arg Single submitter ⚠
- p.Gln608Glu Single submitter ⚠
- p.Glu362Lys Single submitter ⚠
- p.Glu434Gly Single submitter ⚠
- p.Glu515Asp Single submitter ⚠
- p.Glu546Gln Single submitter ⚠
- p.Glu556Gln Single submitter ⚠
- p.Glu558Lys Single submitter ⚠
- p.Gly235Asp Single submitter ⚠
- p.Gly398Val Single submitter ⚠
- p.Gly478Val Single submitter ⚠
- p.His217Arg Single submitter ⚠
- p.His238Gln Single submitter ⚠
- p.Ile257Met Single submitter ⚠
- p.Ile321Val Single submitter ⚠
- p.Ile512Met Single submitter ⚠
- p.Ile545Val Single submitter ⚠
- p.Ile8Val Single submitter ⚠
- p.Leu119Ile Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu270Arg Single submitter ⚠
- p.Lys178Glu Single submitter ⚠
- p.Lys346Glu Single submitter ⚠
- p.Phe403Ser Single submitter ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro291Ser Single submitter ⚠
- p.Pro294Ser Single submitter ⚠
- p.Pro302Ser Single submitter ⚠
- p.Pro302Thr Single submitter ⚠
- p.Pro305Thr Single submitter ⚠
- p.Pro394Leu Single submitter ⚠
- p.Pro432His Single submitter ⚠
- p.Pro440Ala Single submitter ⚠
- p.Pro440Leu Single submitter ⚠
- p.Pro582Ser Single submitter ⚠
- p.Pro620Ser Single submitter ⚠
- p.Ser164Gly Single submitter ⚠
- p.Ser522Gly Single submitter ⚠
- p.Ser542Leu Single submitter ⚠
- p.Thr232Ala Single submitter ⚠
- p.Thr379Ser Single submitter ⚠
- p.Thr409Ile Single submitter ⚠
- p.Thr445Lys Single submitter ⚠
- p.Thr456Ala Single submitter ⚠
- p.Thr479Ile Single submitter ⚠
- p.Thr568Ser Single submitter ⚠
- p.Val209Ile Single submitter ⚠
- p.Val209Phe Single submitter ⚠
- p.Val448Ile Single submitter ⚠
- p.Val477Ile Single submitter ⚠