AMDHD1 — 58 ClinVar variants
All ClinVar germline AMDHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
1 Likely benign · 57 Uncertain significance
Full AMDHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMDHD1 p.Ala20Asp Uncertain significance Single submitter
- AMDHD1 p.Ala302Pro Uncertain significance Single submitter
- AMDHD1 p.Ala339Val Uncertain significance Single submitter
- AMDHD1 p.Ala35Ser Uncertain significance Single submitter
- AMDHD1 p.Ala364Asp Uncertain significance Single submitter
- AMDHD1 p.Arg24His Uncertain significance Single submitter
- AMDHD1 p.Asn369Asp Uncertain significance Single submitter
- AMDHD1 p.Gln114Glu Uncertain significance Single submitter
- AMDHD1 p.Gln139Lys Uncertain significance Single submitter
- AMDHD1 p.Gln140Glu Uncertain significance Single submitter
- AMDHD1 p.Gly236Asp Uncertain significance Single submitter
- AMDHD1 p.Gly236Cys Uncertain significance Single submitter
- AMDHD1 p.Gly381Arg Uncertain significance Single submitter
- AMDHD1 p.Gly407Arg Uncertain significance Single submitter
- AMDHD1 p.Gly54Arg Uncertain significance Single submitter
- AMDHD1 p.His211Gln Uncertain significance Single submitter
- AMDHD1 p.His410Asp Uncertain significance Single submitter
- AMDHD1 p.Ile417Met Uncertain significance Single submitter
- AMDHD1 p.Leu215Arg Uncertain significance Single submitter
- AMDHD1 p.Leu9Pro Uncertain significance Single submitter
- AMDHD1 p.Lys376Arg Uncertain significance Single submitter
- AMDHD1 p.Tyr109Cys Uncertain significance Single submitter
- AMDHD1 p.Val44Leu Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- AMDHD1 p.Ala107Gly Uncertain significance Single submitter
- AMDHD1 p.Ala373Val Uncertain significance Single submitter
- AMDHD1 p.Ala56Pro Uncertain significance Single submitter
- AMDHD1 p.Arg136Cys Uncertain significance Single submitter
- AMDHD1 p.Arg178Gln Uncertain significance Single submitter
- AMDHD1 p.Arg178Gly Uncertain significance Single submitter
- AMDHD1 p.Arg245Ser Uncertain significance Single submitter
- AMDHD1 p.Arg28Pro Uncertain significance Single submitter
- AMDHD1 p.Arg318Gly Uncertain significance Single submitter
- AMDHD1 p.Arg398Gly Uncertain significance Single submitter
- AMDHD1 p.Asn11Thr Uncertain significance Single submitter
- AMDHD1 p.Asn369Ser Uncertain significance Single submitter
- AMDHD1 p.Asp73Asn Uncertain significance Single submitter
- AMDHD1 p.Gln388Glu Uncertain significance Single submitter
- AMDHD1 p.Glu179Lys Uncertain significance Single submitter
- AMDHD1 p.Glu223Gly Uncertain significance Single submitter
- AMDHD1 p.Gly183Ser Likely benign Single submitter
- AMDHD1 p.Gly54Ser Uncertain significance Single submitter
- AMDHD1 p.His410Tyr Uncertain significance Single submitter
- AMDHD1 p.Ile229Thr Uncertain significance Single submitter
- AMDHD1 p.Ile292Thr Uncertain significance Single submitter
- AMDHD1 p.Leu240Pro Uncertain significance Single submitter
- AMDHD1 p.Lys387Arg Uncertain significance Single submitter
- AMDHD1 p.Met110Val Uncertain significance Single submitter
- AMDHD1 p.Met145Val Uncertain significance Single submitter
- AMDHD1 p.Met169Ile Uncertain significance Single submitter
- AMDHD1 p.Pro345Leu Uncertain significance Single submitter
- AMDHD1 p.Thr151Met Uncertain significance Single submitter
- AMDHD1 p.Thr308Pro Uncertain significance Single submitter
- AMDHD1 p.Tyr372Cys Uncertain significance Single submitter
- AMDHD1 p.Val226Met Uncertain significance Single submitter
- AMDHD1 p.Val231Ile Uncertain significance Single submitter
- AMDHD1 p.Val327Ile Uncertain significance Single submitter
- AMDHD1 p.Val385Gly Uncertain significance Single submitter
- AMDHD1 p.Val385Phe Uncertain significance Single submitter
All AMDHD1 variants
Likely benign 1
- p.Gly183Ser Single submitter ⚠
Uncertain significance 57
- p.Ala107Gly Single submitter ⚠
- p.Ala20Asp Single submitter ⚠
- p.Ala302Pro Single submitter ⚠
- p.Ala339Val Single submitter ⚠
- p.Ala35Ser Single submitter ⚠
- p.Ala364Asp Single submitter ⚠
- p.Ala373Val Single submitter ⚠
- p.Ala56Pro Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg178Gly Single submitter ⚠
- p.Arg245Ser Single submitter ⚠
- p.Arg24His Single submitter ⚠
- p.Arg28Pro Single submitter ⚠
- p.Arg318Gly Single submitter ⚠
- p.Arg398Gly Single submitter ⚠
- p.Asn11Thr Single submitter ⚠
- p.Asn369Asp Single submitter ⚠
- p.Asn369Ser Single submitter ⚠
- p.Asp73Asn Single submitter ⚠
- p.Gln114Glu Single submitter ⚠
- p.Gln139Lys Single submitter ⚠
- p.Gln140Glu Single submitter ⚠
- p.Gln388Glu Single submitter ⚠
- p.Glu179Lys Single submitter ⚠
- p.Glu223Gly Single submitter ⚠
- p.Gly236Asp Single submitter ⚠
- p.Gly236Cys Single submitter ⚠
- p.Gly381Arg Single submitter ⚠
- p.Gly407Arg Single submitter ⚠
- p.Gly54Arg Single submitter ⚠
- p.Gly54Ser Single submitter ⚠
- p.His211Gln Single submitter ⚠
- p.His410Asp Single submitter ⚠
- p.His410Tyr Single submitter ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile292Thr Single submitter ⚠
- p.Ile417Met Single submitter ⚠
- p.Leu215Arg Single submitter ⚠
- p.Leu240Pro Single submitter ⚠
- p.Leu9Pro Single submitter ⚠
- p.Lys376Arg Single submitter ⚠
- p.Lys387Arg Single submitter ⚠
- p.Met110Val Single submitter ⚠
- p.Met145Val Single submitter ⚠
- p.Met169Ile Single submitter ⚠
- p.Pro345Leu Single submitter ⚠
- p.Thr151Met Single submitter ⚠
- p.Thr308Pro Single submitter ⚠
- p.Tyr109Cys Single submitter ⚠
- p.Tyr372Cys Single submitter ⚠
- p.Val226Met Single submitter ⚠
- p.Val231Ile Single submitter ⚠
- p.Val327Ile Single submitter ⚠
- p.Val385Gly Single submitter ⚠
- p.Val385Phe Single submitter ⚠
- p.Val44Leu Single submitter ⚠