SNW1 — 45 ClinVar variants
All ClinVar germline SNW1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Likely pathogenic · 44 Uncertain significance
Full SNW1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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.
- SNW1 p.Ala102Val Uncertain significance Single submitter
- SNW1 p.Arg103Gln Uncertain significance Single submitter
- SNW1 p.Arg103Pro Uncertain significance Single submitter
- SNW1 p.Arg195Met Uncertain significance Single submitter
- SNW1 p.Arg220Gln Uncertain significance Single submitter
- SNW1 p.Arg267His Uncertain significance Single submitter
- SNW1 p.Arg30Gln Uncertain significance Single submitter
- SNW1 p.Arg350His Uncertain significance Single submitter
- SNW1 p.Arg38Gln Uncertain significance Single submitter
- SNW1 p.Arg400Gln Uncertain significance Single submitter
- SNW1 p.Arg47Gln Uncertain significance Single submitter
- SNW1 p.Arg483His Uncertain significance Single submitter
- SNW1 p.Asn385His Uncertain significance Single submitter
- SNW1 p.Asn385Ser Uncertain significance Single submitter
- SNW1 p.Asn403Ser Uncertain significance Single submitter
- SNW1 p.Asp519Val Uncertain significance Single submitter
- SNW1 p.Asp99Asn Uncertain significance Single submitter
- SNW1 p.Gln364Glu Uncertain significance Single submitter
- SNW1 p.Gly45Arg Uncertain significance Single submitter
- SNW1 p.Ile101Val Uncertain significance Single submitter
- SNW1 p.Ile447Thr Uncertain significance Single submitter
- SNW1 p.Ile67Thr Uncertain significance Single submitter
- SNW1 p.Phe64Leu Uncertain significance Single submitter
- SNW1 p.Pro228Ala Uncertain significance Single submitter
- SNW1 p.Ser190Cys Uncertain significance Single submitter
- SNW1 p.Ser83Leu Uncertain significance Single submitter
- SNW1 p.Tyr292Cys Uncertain significance Single submitter
- SNW1 p.Tyr98Ser Uncertain significance Single submitter
- SNW1 p.Val159Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- SNW1 p.Arg400Trp Uncertain significance Single submitter
- SNW1 p.Arg483Cys Uncertain significance Single submitter
- SNW1 p.Met202Ile Uncertain significance Single submitter
- SNW1 p.Met304Ile Uncertain significance Single submitter
- SNW1 p.Ser14Pro Uncertain significance Single submitter
- SNW1 p.Ser389Gly Uncertain significance Single submitter
- SNW1 p.Ser479Cys Uncertain significance Single submitter
- SNW1 p.Thr277Ile Uncertain significance Single submitter
All SNW1 variants
Likely pathogenic 1
- p.Gly61_Gly62del Single submitter SNW1-associated neurodevelopmental disorder
Uncertain significance 44
- c.330+1G>A Single submitter
- p.Ala102Val Single submitter ⚠
- p.Ala167Val Single submitter
- p.Arg103Gln Single submitter ⚠
- p.Arg103Pro Single submitter ⚠
- p.Arg195Met Single submitter ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg267His Single submitter ⚠
- p.Arg30Gln Single submitter ⚠
- p.Arg350His Single submitter ⚠
- p.Arg360Ter Single submitter
- p.Arg38Gln Single submitter ⚠
- p.Arg400Gln Single submitter ⚠
- p.Arg400Trp Single submitter ⚠
- p.Arg47Gln Single submitter ⚠
- p.Arg483Cys Single submitter ⚠
- p.Arg483His Single submitter ⚠
- p.Asn385His Single submitter ⚠
- p.Asn385Ser Single submitter ⚠
- p.Asn403Ser Single submitter ⚠
- p.Asp519Val Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Gln364Glu Single submitter ⚠
- p.Gly424Cys Single submitter
- p.Gly45Arg Single submitter ⚠
- p.His68Gln Single submitter
- p.Ile101Val Single submitter ⚠
- p.Ile447Thr Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Lys286Arg Single submitter
- p.Met202Ile Single submitter ⚠
- p.Met207Val Single submitter
- p.Met304Ile Single submitter ⚠
- p.Phe64Leu Single submitter ⚠
- p.Pro228Ala Single submitter ⚠
- p.Ser14Pro Single submitter ⚠
- p.Ser190Cys Single submitter ⚠
- p.Ser389Gly Single submitter ⚠
- p.Ser479Cys Single submitter ⚠
- p.Ser83Leu Single submitter ⚠
- p.Thr277Ile Single submitter ⚠
- p.Tyr292Cys Single submitter ⚠
- p.Tyr98Ser Single submitter ⚠
- p.Val159Ile Single submitter ⚠