DNASE1L2 — 38 ClinVar variants
All ClinVar germline DNASE1L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
38 Uncertain significance
Full DNASE1L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNASE1L2 p.Ala136Thr Uncertain significance Single submitter
- DNASE1L2 p.Ala151Ser Uncertain significance Single submitter
- DNASE1L2 p.Ala161Val Uncertain significance Single submitter
- DNASE1L2 p.Ala255Thr Uncertain significance Single submitter
- DNASE1L2 p.Asp95Asn Uncertain significance Single submitter
- DNASE1L2 p.Gly43Ser Uncertain significance Single submitter
- DNASE1L2 p.Leu222Arg Uncertain significance Single submitter
- DNASE1L2 p.Lys107Arg Uncertain significance Single submitter
- DNASE1L2 p.Thr196Ile Uncertain significance Single submitter
- DNASE1L2 p.Tyr101His Uncertain significance Single submitter
- DNASE1L2 p.Tyr247Cys Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- DNASE1L2 p.Ala171Pro Uncertain significance Single submitter
- DNASE1L2 p.Ala172Pro Uncertain significance Single submitter
- DNASE1L2 p.Ala246Ser Uncertain significance Single submitter
- DNASE1L2 p.Ala266Gly Uncertain significance Single submitter
- DNASE1L2 p.Ala284Val Uncertain significance Single submitter
- DNASE1L2 p.Arg5Trp Uncertain significance Single submitter
- DNASE1L2 p.Arg94Leu Uncertain significance Single submitter
- DNASE1L2 p.Asp237Asn Uncertain significance Single submitter
- DNASE1L2 p.Asp270Ala Uncertain significance Single submitter
- DNASE1L2 p.Gln75His Uncertain significance Single submitter
- DNASE1L2 p.Gly195Asp Uncertain significance Single submitter
- DNASE1L2 p.Gly276Ser Uncertain significance Single submitter
- DNASE1L2 p.Gly33Cys Uncertain significance Single submitter
- DNASE1L2 p.Ile24Met Uncertain significance Single submitter
- DNASE1L2 p.Ile285Asn Uncertain significance Single submitter
- DNASE1L2 p.Leu166Met Uncertain significance Single submitter
- DNASE1L2 p.Met199Thr Uncertain significance Single submitter
- DNASE1L2 p.Met73Lys Uncertain significance Single submitter
- DNASE1L2 p.Pro145Leu Uncertain significance Single submitter
- DNASE1L2 p.Pro156Ser Uncertain significance Single submitter
- DNASE1L2 p.Ser135Leu Uncertain significance Single submitter
- DNASE1L2 p.Ser89Gly Uncertain significance Single submitter
- DNASE1L2 p.Thr294Asn Uncertain significance Single submitter
- DNASE1L2 p.Tyr53Cys Uncertain significance Single submitter
- DNASE1L2 p.Val177Leu Uncertain significance Single submitter
- DNASE1L2 p.Val212Met Uncertain significance Single submitter
- DNASE1L2 p.Val58Ala Uncertain significance Single submitter
All DNASE1L2 variants
Uncertain significance 38
- p.Ala136Thr Single submitter ⚠
- p.Ala151Ser Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala171Pro Single submitter ⚠
- p.Ala172Pro Single submitter ⚠
- p.Ala246Ser Single submitter ⚠
- p.Ala255Thr Single submitter ⚠
- p.Ala266Gly Single submitter ⚠
- p.Ala284Val Single submitter ⚠
- p.Arg5Trp Single submitter ⚠
- p.Arg94Leu Single submitter ⚠
- p.Asp237Asn Single submitter ⚠
- p.Asp270Ala Single submitter ⚠
- p.Asp95Asn Single submitter ⚠
- p.Gln75His Single submitter ⚠
- p.Gly195Asp Single submitter ⚠
- p.Gly276Ser Single submitter ⚠
- p.Gly33Cys Single submitter ⚠
- p.Gly43Ser Single submitter ⚠
- p.Ile24Met Single submitter ⚠
- p.Ile285Asn Single submitter ⚠
- p.Leu166Met Single submitter ⚠
- p.Leu222Arg Single submitter ⚠
- p.Lys107Arg Single submitter ⚠
- p.Met199Thr Single submitter ⚠
- p.Met73Lys Single submitter ⚠
- p.Pro145Leu Single submitter ⚠
- p.Pro156Ser Single submitter ⚠
- p.Ser135Leu Single submitter ⚠
- p.Ser89Gly Single submitter ⚠
- p.Thr196Ile Single submitter ⚠
- p.Thr294Asn Single submitter ⚠
- p.Tyr101His Single submitter ⚠
- p.Tyr247Cys Single submitter ⚠
- p.Tyr53Cys Single submitter ⚠
- p.Val177Leu Single submitter ⚠
- p.Val212Met Single submitter ⚠
- p.Val58Ala Single submitter ⚠