DACH2 — 72 ClinVar variants
All ClinVar germline DACH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
1 Conflicting · 1 Benign · 4 Likely benign · 66 Uncertain significance
Full DACH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DACH2 p.Ala221Ser Uncertain significance Single submitter
- DACH2 p.Ala296Val Uncertain significance Single submitter
- DACH2 p.Ala362Gly Uncertain significance Single submitter
- DACH2 p.Ala440Thr Uncertain significance Single submitter
- DACH2 p.Ala599Ser Uncertain significance Single submitter
- DACH2 p.Ala5Ser Uncertain significance Single submitter
- DACH2 p.Ala5Val Uncertain significance Single submitter
- DACH2 p.Arg181Lys Uncertain significance Single submitter
- DACH2 p.Arg195His Uncertain significance Single submitter
- DACH2 p.Asn235Asp Uncertain significance Single submitter
- DACH2 p.Asn341Lys Uncertain significance Single submitter
- DACH2 p.Asn62Ser Uncertain significance Single submitter
- DACH2 p.Asp578Tyr Uncertain significance Single submitter
- DACH2 p.Gln545Arg Uncertain significance Single submitter
- DACH2 p.Gly133Arg Uncertain significance Single submitter
- DACH2 p.Gly180Ser Uncertain significance Single submitter
- DACH2 p.Gly564Glu Uncertain significance Single submitter
- DACH2 p.Gly58Ser Uncertain significance Single submitter
- DACH2 p.Gly85Val Uncertain significance Single submitter
- DACH2 p.His342Arg Uncertain significance Single submitter
- DACH2 p.Ile480Leu Uncertain significance Single submitter
- DACH2 p.Leu359His Uncertain significance Single submitter
- DACH2 p.Leu529Phe Uncertain significance Single submitter
- DACH2 p.Leu560Phe Uncertain significance Single submitter
- DACH2 p.Met220Ile Uncertain significance Single submitter
- DACH2 p.Met234Val Uncertain significance Single submitter
- DACH2 p.Met423Thr Uncertain significance Single submitter
- DACH2 p.Met42Ile Uncertain significance Single submitter
- DACH2 p.Met559Ile Uncertain significance Single submitter
- DACH2 p.Met582Ile Uncertain significance Single submitter
- DACH2 p.Phe152Leu Uncertain significance Single submitter
- DACH2 p.Pro182Ala Uncertain significance Single submitter
- DACH2 p.Pro276His Uncertain significance Single submitter
- DACH2 p.Pro27Ser Uncertain significance Single submitter
- DACH2 p.Pro301Ala Uncertain significance Single submitter
- DACH2 p.Pro315Thr Uncertain significance Single submitter
- DACH2 p.Pro40Ala Uncertain significance Single submitter
- DACH2 p.Pro434Ser Uncertain significance Single submitter
- DACH2 p.Pro434Thr Uncertain significance Single submitter
- DACH2 p.Ser30Leu Uncertain significance Single submitter
- DACH2 p.Ser332Leu Uncertain significance Single submitter
- DACH2 p.Ser45Gly Uncertain significance Single submitter
- DACH2 p.Ser52Gly Uncertain significance Single submitter
- DACH2 p.Thr364Ile Uncertain significance Single submitter
- DACH2 p.Thr460Ile Uncertain significance Single submitter
- DACH2 p.Trp264Leu Uncertain significance Single submitter
- DACH2 p.Val18Leu Uncertain significance Single submitter
- DACH2 p.Val3Ala Uncertain significance Single submitter
- DACH2 p.Val455Met Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- DACH2 p.Arg539His Uncertain significance Multiple submitters
- DACH2 p.Ala219Val Conflicting Single submitter
- DACH2 p.Ala221Asp Uncertain significance Single submitter
- DACH2 p.Ala223Val Uncertain significance Single submitter
- DACH2 p.Ala285Glu Uncertain significance Single submitter
- DACH2 p.Arg518His Uncertain significance Single submitter
- DACH2 p.Asp562Val Uncertain significance Single submitter
- DACH2 p.Gly208Glu Uncertain significance Single submitter
- DACH2 p.Met234Ile Uncertain significance Single submitter
- DACH2 p.Met317Arg Uncertain significance Single submitter
- DACH2 p.Met317Val Uncertain significance Single submitter
- DACH2 p.Pro377Ser Uncertain significance Single submitter
- DACH2 p.Pro434His Uncertain significance Single submitter
- DACH2 p.Pro445Ser Uncertain significance Single submitter
- DACH2 p.Ser374Asn Uncertain significance Single submitter
- DACH2 p.Ser397Asn Uncertain significance Single submitter
- DACH2 p.Trp264Cys Uncertain significance Single submitter
- DACH2 p.Val125Ile Uncertain significance Single submitter
All DACH2 variants
Conflicting classifications of pathogenicity 1
- p.Ala219Val Single submitter ⚠
Benign 1
- p.Pro421Ser No assertion criteria Abnormality of neuronal migration
Likely benign 4
Uncertain significance 66
- p.Arg539His Multiple submitters ⚠
- p.Ala221Asp Single submitter ⚠
- p.Ala221Ser Single submitter ⚠
- p.Ala223Val Single submitter ⚠
- p.Ala285Glu Single submitter ⚠
- p.Ala296Val Single submitter ⚠
- p.Ala362Gly Single submitter ⚠
- p.Ala440Thr Single submitter ⚠
- p.Ala599Ser Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Arg181Lys Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Arg518His Single submitter ⚠
- p.Asn235Asp Single submitter ⚠
- p.Asn341Lys Single submitter ⚠
- p.Asn62Ser Single submitter ⚠
- p.Asp562Val Single submitter ⚠
- p.Asp578Tyr Single submitter ⚠
- p.Gln545Arg Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly180Ser Single submitter ⚠
- p.Gly208Glu Single submitter ⚠
- p.Gly564Glu Single submitter ⚠
- p.Gly58Ser Single submitter ⚠
- p.Gly85Val Single submitter ⚠
- p.His342Arg Single submitter ⚠
- p.Ile480Leu Single submitter ⚠
- p.Leu359His Single submitter ⚠
- p.Leu529Phe Single submitter ⚠
- p.Leu560Phe Single submitter ⚠
- p.Met220Ile Single submitter ⚠
- p.Met234Ile Single submitter ⚠
- p.Met234Val Single submitter ⚠
- p.Met317Arg Single submitter ⚠
- p.Met317Val Single submitter ⚠
- p.Met423Thr Single submitter ⚠
- p.Met42Ile Single submitter ⚠
- p.Met559Ile Single submitter ⚠
- p.Met582Ile Single submitter ⚠
- p.Phe152Leu Single submitter ⚠
- p.Pro182Ala Single submitter ⚠
- p.Pro276His Single submitter ⚠
- p.Pro27Ser Single submitter ⚠
- p.Pro301Ala Single submitter ⚠
- p.Pro315Thr Single submitter ⚠
- p.Pro377Ser Single submitter ⚠
- p.Pro40Ala Single submitter ⚠
- p.Pro434His Single submitter ⚠
- p.Pro434Ser Single submitter ⚠
- p.Pro434Thr Single submitter ⚠
- p.Pro445Ser Single submitter ⚠
- p.Ser30Leu Single submitter ⚠
- p.Ser332Leu Single submitter ⚠
- p.Ser374Asn Single submitter ⚠
- p.Ser397Asn Single submitter ⚠
- p.Ser45Gly Single submitter ⚠
- p.Ser52Gly Single submitter ⚠
- p.Thr364Ile Single submitter ⚠
- p.Thr460Ile Single submitter ⚠
- p.Trp264Cys Single submitter ⚠
- p.Trp264Leu Single submitter ⚠
- p.Val125Ile Single submitter ⚠
- p.Val18Leu Single submitter ⚠
- p.Val3Ala Single submitter ⚠
- p.Val455Met Single submitter ⚠