ASZ1 — 63 ClinVar variants
All ClinVar germline ASZ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
1 Conflicting · 1 Benign · 5 Likely benign · 56 Uncertain significance
Full ASZ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASZ1 p.Ala140Ser Uncertain significance Single submitter
- ASZ1 p.Ala3Gly Uncertain significance Single submitter
- ASZ1 p.Ala5Gly Uncertain significance Single submitter
- ASZ1 p.Arg158Pro Uncertain significance Single submitter
- ASZ1 p.Arg191Cys Uncertain significance Single submitter
- ASZ1 p.Arg191His Uncertain significance Single submitter
- ASZ1 p.Arg430Gln Uncertain significance Single submitter
- ASZ1 p.Arg430Trp Uncertain significance Single submitter
- ASZ1 p.Arg96Trp Uncertain significance Single submitter
- ASZ1 p.Asn364Ser Uncertain significance Single submitter
- ASZ1 p.Asn447Thr Uncertain significance Single submitter
- ASZ1 p.Asn91Ser Uncertain significance Single submitter
- ASZ1 p.Asp22His Uncertain significance Single submitter
- ASZ1 p.Asp22Tyr Uncertain significance Single submitter
- ASZ1 p.Asp252Asn Uncertain significance Single submitter
- ASZ1 p.Asp31Tyr Uncertain significance Single submitter
- ASZ1 p.Gln211Pro Uncertain significance Single submitter
- ASZ1 p.Gln246Lys Uncertain significance Single submitter
- ASZ1 p.Gln334Leu Uncertain significance Single submitter
- ASZ1 p.Gln63His Uncertain significance Single submitter
- ASZ1 p.Glu19Gln Uncertain significance Single submitter
- ASZ1 p.Glu26Asp Uncertain significance Single submitter
- ASZ1 p.Glu280Lys Uncertain significance Single submitter
- ASZ1 p.Glu350Lys Uncertain significance Single submitter
- ASZ1 p.Gly243Arg Uncertain significance Single submitter
- ASZ1 p.Gly368Ser Uncertain significance Single submitter
- ASZ1 p.His171Tyr Uncertain significance Single submitter
- ASZ1 p.Ile153Val Uncertain significance Single submitter
- ASZ1 p.Ile221Thr Uncertain significance Single submitter
- ASZ1 p.Ile456Thr Uncertain significance Single submitter
- ASZ1 p.Leu201Ser Uncertain significance Single submitter
- ASZ1 p.Leu6Val Uncertain significance Single submitter
- ASZ1 p.Leu9Pro Uncertain significance Single submitter
- ASZ1 p.Lys195Glu Uncertain significance Single submitter
- ASZ1 p.Lys36Glu Uncertain significance Single submitter
- ASZ1 p.Lys49Asn Uncertain significance Single submitter
- ASZ1 p.Met54Val Uncertain significance Single submitter
- ASZ1 p.Pro152Ala Uncertain significance Single submitter
- ASZ1 p.Ser137Leu Uncertain significance Single submitter
- ASZ1 p.Ser4Ile Uncertain significance Single submitter
- ASZ1 p.Ser60Leu Uncertain significance Single submitter
- ASZ1 p.Thr187Met Uncertain significance Single submitter
- ASZ1 p.Thr301Lys Uncertain significance Single submitter
- ASZ1 p.Thr471Ser Uncertain significance Single submitter
- ASZ1 p.Tyr85Cys Uncertain significance Single submitter
- ASZ1 p.Val281Leu Uncertain significance Single submitter
- ASZ1 p.Val383Gly Uncertain significance Single submitter
- ASZ1 p.Val59Ala Uncertain significance Single submitter
- ASZ1 p.Val89Ala Uncertain significance Single submitter
- ASZ1 p.Val97Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All ASZ1 variants
Conflicting classifications of pathogenicity 1
- p.Met154Val Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
Benign 1
- p.Arg39= Single submitter
Likely benign 5
- p.His122Arg Single submitter
- p.Ile43Thr Single submitter
- p.Ile458Val Single submitter
- p.Leu426= Single submitter
- p.Ser352= Single submitter
Uncertain significance 56
- p.Ala140Ser Single submitter ⚠
- p.Ala3Gly Single submitter ⚠
- p.Ala5Gly Single submitter ⚠
- p.Arg101Gly Single submitter ⚠
- p.Arg158Pro Single submitter ⚠
- p.Arg191Cys Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Arg430Gln Single submitter ⚠
- p.Arg430Trp Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Asn364Ser Single submitter ⚠
- p.Asn447Thr Single submitter ⚠
- p.Asn91Ser Single submitter ⚠
- p.Asp22His Single submitter ⚠
- p.Asp22Tyr Single submitter ⚠
- p.Asp252Asn Single submitter ⚠
- p.Asp31Tyr Single submitter ⚠
- p.Asp67His Single submitter ⚠
- p.Gln211Pro Single submitter ⚠
- p.Gln246Lys Single submitter ⚠
- p.Gln334Leu Single submitter ⚠
- p.Gln63His Single submitter ⚠
- p.Glu19Gln Single submitter ⚠
- p.Glu26Asp Single submitter ⚠
- p.Glu280Lys Single submitter ⚠
- p.Glu350Lys Single submitter ⚠
- p.Gly243Arg Single submitter ⚠
- p.Gly368Ser Single submitter ⚠
- p.His171Tyr Single submitter ⚠
- p.His290Arg Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Ile221Thr Single submitter ⚠
- p.Ile456Thr Single submitter ⚠
- p.Leu201Ser Single submitter ⚠
- p.Leu286His Single submitter ⚠
- p.Leu6Val Single submitter ⚠
- p.Leu9Pro Single submitter ⚠
- p.Lys195Glu Single submitter ⚠
- p.Lys36Glu Single submitter ⚠
- p.Lys49Asn Single submitter ⚠
- p.Met308Val Single submitter ⚠
- p.Met54Val Single submitter ⚠
- p.Pro152Ala Single submitter ⚠
- p.Ser137Leu Single submitter ⚠
- p.Ser4Ile Single submitter ⚠
- p.Ser60Leu Single submitter ⚠
- p.Thr187Met Single submitter ⚠
- p.Thr301Lys Single submitter ⚠
- p.Thr471Ser Single submitter ⚠
- p.Tyr85Cys Single submitter ⚠
- p.Val281Leu Single submitter ⚠
- p.Val383Gly Single submitter ⚠
- p.Val59Ala Single submitter ⚠
- p.Val89Ala Single submitter ⚠
- p.Val95Phe Single submitter
- p.Val97Ile Single submitter ⚠