DSN1 — 38 ClinVar variants
All ClinVar germline DSN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
2 Benign · 3 Likely benign · 33 Uncertain significance
Full DSN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DSN1 p.Arg106Gln Uncertain significance Single submitter
- DSN1 p.Arg122Gln Uncertain significance Single submitter
- DSN1 p.Arg97Trp Uncertain significance Single submitter
- DSN1 p.Asp127His Uncertain significance Single submitter
- DSN1 p.Gln311Arg Uncertain significance Single submitter
- DSN1 p.Gln311His Uncertain significance Single submitter
- DSN1 p.Glu193Lys Uncertain significance Single submitter
- DSN1 p.Glu213Ala Uncertain significance Single submitter
- DSN1 p.Gly181Ala Uncertain significance Single submitter
- DSN1 p.His79Arg Uncertain significance Single submitter
- DSN1 p.Leu230Ile Uncertain significance Single submitter
- DSN1 p.Lys212Gln Uncertain significance Single submitter
- DSN1 p.Lys315Asn Uncertain significance Single submitter
- DSN1 p.Lys322Arg Uncertain significance Single submitter
- DSN1 p.Phe144Tyr Uncertain significance Single submitter
- DSN1 p.Phe35Tyr Uncertain significance Single submitter
- DSN1 p.Pro330Thr Uncertain significance Single submitter
- DSN1 p.Ser207Thr Uncertain significance Single submitter
- DSN1 p.Ser262Tyr Uncertain significance Single submitter
- DSN1 p.Ser28Gly Uncertain significance Single submitter
- DSN1 p.Ser57Cys Uncertain significance Single submitter
- DSN1 p.Ser58Arg Uncertain significance Single submitter
- DSN1 p.Ser95Phe Uncertain significance Single submitter
- DSN1 p.Ser95Pro Uncertain significance Single submitter
- DSN1 p.Thr104Met Uncertain significance Single submitter
- DSN1 p.Thr216Lys Uncertain significance Single submitter
- DSN1 p.Val208Met Uncertain significance Single submitter
- DSN1 p.Val252Gly Uncertain significance Single submitter
- DSN1 p.Val34Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DSN1 variants
Likely benign 3
- p.Ala346Thr Single submitter
- p.Ile146Val Single submitter
- p.Thr184Ser Single submitter
Uncertain significance 33
- p.Arg106Gln Single submitter ⚠
- p.Arg107Gln Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg97Trp Single submitter ⚠
- p.Asp127His Single submitter ⚠
- p.Asp273Ala Single submitter
- p.Gln311Arg Single submitter ⚠
- p.Gln311His Single submitter ⚠
- p.Glu193Lys Single submitter ⚠
- p.Glu213Ala Single submitter ⚠
- p.Gly181Ala Single submitter ⚠
- p.Gly186Ala Single submitter ⚠
- p.Gly186Arg Single submitter
- p.His79Arg Single submitter ⚠
- p.Leu230Ile Single submitter ⚠
- p.Lys212Gln Single submitter ⚠
- p.Lys315Asn Single submitter ⚠
- p.Lys322Arg Single submitter ⚠
- p.Phe144Tyr Single submitter ⚠
- p.Phe35Tyr Single submitter ⚠
- p.Pro330Thr Single submitter ⚠
- p.Ser207Thr Single submitter ⚠
- p.Ser262Tyr Single submitter ⚠
- p.Ser28Gly Single submitter ⚠
- p.Ser57Cys Single submitter ⚠
- p.Ser58Arg Single submitter ⚠
- p.Ser95Phe Single submitter ⚠
- p.Ser95Pro Single submitter ⚠
- p.Thr104Met Single submitter ⚠
- p.Thr216Lys Single submitter ⚠
- p.Val208Met Single submitter ⚠
- p.Val252Gly Single submitter ⚠
- p.Val34Ala Single submitter ⚠