AASDHPPT — 43 ClinVar variants
All ClinVar germline AASDHPPT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
43 Uncertain significance
Full AASDHPPT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AASDHPPT p.Ala72Ser Uncertain significance Single submitter
- AASDHPPT p.Ala72Thr Uncertain significance Single submitter
- AASDHPPT p.Arg138His Uncertain significance Single submitter
- AASDHPPT p.Arg304Gln Uncertain significance Single submitter
- AASDHPPT p.Arg47His Uncertain significance Single submitter
- AASDHPPT p.Arg83Cys Uncertain significance Single submitter
- AASDHPPT p.Arg83His Uncertain significance Single submitter
- AASDHPPT p.Asn305Ser Uncertain significance Single submitter
- AASDHPPT p.Asp249Asn Uncertain significance Single submitter
- AASDHPPT p.Asp260Glu Uncertain significance Single submitter
- AASDHPPT p.Asp260Gly Uncertain significance Single submitter
- AASDHPPT p.Asp261Glu Uncertain significance Single submitter
- AASDHPPT p.Glu227Ala Uncertain significance Single submitter
- AASDHPPT p.Glu32Asp Uncertain significance Single submitter
- AASDHPPT p.His253Tyr Uncertain significance Single submitter
- AASDHPPT p.Ile128Asn Uncertain significance Single submitter
- AASDHPPT p.Ile130Val Uncertain significance Single submitter
- AASDHPPT p.Ile187Leu Uncertain significance Single submitter
- AASDHPPT p.Ile187Val Uncertain significance Single submitter
- AASDHPPT p.Ile271Leu Uncertain significance Single submitter
- AASDHPPT p.Ile271Val Uncertain significance Single submitter
- AASDHPPT p.Ile303Val Uncertain significance Single submitter
- AASDHPPT p.Leu191Pro Uncertain significance Single submitter
- AASDHPPT p.Lys96Glu Uncertain significance Single submitter
- AASDHPPT p.Met172Val Uncertain significance Single submitter
- AASDHPPT p.Phe8Cys Uncertain significance Single submitter
- AASDHPPT p.Pro101Thr Uncertain significance Single submitter
- AASDHPPT p.Pro103Leu Uncertain significance Single submitter
- AASDHPPT p.Pro12Leu Uncertain significance Single submitter
- AASDHPPT p.Pro12Ser Uncertain significance Single submitter
- AASDHPPT p.Pro4Arg Uncertain significance Single submitter
- AASDHPPT p.Ser182Thr Uncertain significance Single submitter
- AASDHPPT p.Ser279Leu Uncertain significance Single submitter
- AASDHPPT p.Trp79Gly Uncertain significance Single submitter
- AASDHPPT p.Tyr102Cys Uncertain significance Single submitter
- AASDHPPT p.Val189Ile Uncertain significance Single submitter
- AASDHPPT p.Val282Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All AASDHPPT variants
Uncertain significance 43
- p.Ala72Ser Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg47His Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Arg83His Single submitter ⚠
- p.Asn305Ser Single submitter ⚠
- p.Asp249Asn Single submitter ⚠
- p.Asp260Glu Single submitter ⚠
- p.Asp260Gly Single submitter ⚠
- p.Asp261Glu Single submitter ⚠
- p.Glu227Ala Single submitter ⚠
- p.Glu232Gln Single submitter ⚠
- p.Glu32Asp Single submitter ⚠
- p.His253Tyr Single submitter ⚠
- p.Ile128Asn Single submitter ⚠
- p.Ile128Thr Single submitter
- p.Ile130Val Single submitter ⚠
- p.Ile147Thr Single submitter
- p.Ile187Leu Single submitter ⚠
- p.Ile187Val Single submitter ⚠
- p.Ile271Leu Single submitter ⚠
- p.Ile271Val Single submitter ⚠
- p.Ile303Val Single submitter ⚠
- p.Leu124Pro Single submitter ⚠
- p.Leu191Pro Single submitter ⚠
- p.Leu277Phe Single submitter ⚠
- p.Lys132Asn Single submitter ⚠
- p.Lys96Glu Single submitter ⚠
- p.Met172Val Single submitter ⚠
- p.Phe8Cys Single submitter ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro103Leu Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Ser182Thr Single submitter ⚠
- p.Ser279Leu Single submitter ⚠
- p.Trp79Gly Single submitter ⚠
- p.Tyr102Cys Single submitter ⚠
- p.Val189Ile Single submitter ⚠
- p.Val282Ile Single submitter ⚠