CHN2 — 56 ClinVar variants
All ClinVar germline CHN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
8 Benign · 9 Likely benign · 39 Uncertain significance
Full CHN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHN2 p.Ala201Val Uncertain significance Single submitter
- CHN2 p.Arg290Ser Uncertain significance Single submitter
- CHN2 p.Arg299Gln Uncertain significance Single submitter
- CHN2 p.Arg313Thr Uncertain significance Single submitter
- CHN2 p.Arg39His Uncertain significance Single submitter
- CHN2 p.Arg404Trp Uncertain significance Single submitter
- CHN2 p.Arg47Gln Uncertain significance Single submitter
- CHN2 p.Arg87Gln Uncertain significance Single submitter
- CHN2 p.Arg87Trp Uncertain significance Single submitter
- CHN2 p.Asn181Asp Uncertain significance Single submitter
- CHN2 p.Asn340Ser Uncertain significance Single submitter
- CHN2 p.Asn380Ser Uncertain significance Single submitter
- CHN2 p.Asn6Thr Uncertain significance Single submitter
- CHN2 p.Asp206His Uncertain significance Single submitter
- CHN2 p.Glu383Lys Uncertain significance Single submitter
- CHN2 p.Glu417Lys Uncertain significance Single submitter
- CHN2 p.His124Arg Uncertain significance Single submitter
- CHN2 p.His184Arg Uncertain significance Single submitter
- CHN2 p.Ile136Val Uncertain significance Single submitter
- CHN2 p.Ile239Val Uncertain significance Single submitter
- CHN2 p.Ile321Asn Uncertain significance Single submitter
- CHN2 p.Ile348Val Uncertain significance Single submitter
- CHN2 p.Ile456Thr Uncertain significance Single submitter
-
CHN2 p.Ile461Val
Uncertain significance
Single submitter
neuropathy, congenital hypomyelinating, 2
- CHN2 p.Lys258Asn Uncertain significance Single submitter
- CHN2 p.Lys411Arg Uncertain significance Single submitter
- CHN2 p.Pro46Leu Uncertain significance Single submitter
- CHN2 p.Thr149Ala Uncertain significance Single submitter
- CHN2 p.Val166Ala Uncertain significance Single submitter
- CHN2 p.Val252Ile Uncertain significance Single submitter
- CHN2 p.Val430Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CHN2 variants
Benign 8
- p.Pro438Ser Single submitter
- c.291-7C>T No assertion criteria CHN2-related disorder
- c.50-61702A>T No assertion criteria CHN2-related disorder
- c.-501-8C>T No assertion criteria CHN2-related disorder
- c.-511T>G No assertion criteria CHN2-related disorder
- c.-646G>A No assertion criteria CHN2-related disorder
- p.Asn423= No assertion criteria CHN2-related disorder
- p.Asp278= No assertion criteria CHN2-related disorder
Likely benign 9
- p.Asp110= Single submitter
- p.Tyr31His Single submitter
- c.914-22TC[6] No assertion criteria CHN2-related disorder
- c.-442T>C No assertion criteria CHN2-related disorder
- c.-601C>T No assertion criteria CHN2-related disorder
- c.-6G>A No assertion criteria CHN2-related disorder
- p.Ala335= No assertion criteria CHN2-related disorder
- p.Ala387= No assertion criteria CHN2-related disorder
- p.Asp336Asn No assertion criteria CHN2-related disorder
Uncertain significance 39
- p.Ala201Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Arg290Ser Single submitter ⚠
- p.Arg299Gln Single submitter ⚠
- p.Arg313Thr Single submitter ⚠
- p.Arg39His Single submitter ⚠
- p.Arg404Trp Single submitter ⚠
- p.Arg47Gln Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Asn181Asp Single submitter ⚠
- p.Asn340Ser Single submitter ⚠
- p.Asn380Ser Single submitter ⚠
- p.Asn6Thr Single submitter ⚠
- p.Asp206His Single submitter ⚠
- p.Glu383Lys Single submitter ⚠
- p.Glu417Lys Single submitter ⚠
- p.His124Arg Single submitter ⚠
- p.His184Arg Single submitter ⚠
- p.Ile136Val Single submitter ⚠
- p.Ile239Val Single submitter ⚠
- p.Ile321Asn Single submitter ⚠
- p.Ile348Val Single submitter ⚠
- p.Ile456Thr Single submitter ⚠
- p.Ile461Val Single submitter neuropathy, congenital hypomyelinating, 2 ⚠
- p.Lys258Asn Single submitter ⚠
- p.Lys411Arg Single submitter ⚠
- p.Pro291Ser Single submitter ⚠
- p.Pro397Leu Single submitter ⚠
- p.Pro46Leu Single submitter ⚠
- p.Ser379Cys Single submitter ⚠
- p.Thr149Ala Single submitter ⚠
- p.Tyr29Asn Single submitter ⚠
- p.Val166Ala Single submitter ⚠
- p.Val252Ile Single submitter ⚠
- p.Val430Met Single submitter ⚠
- c.49+68970_49+69013del No assertion criteria schizophrenia
- c.88+5444_88+5482del No assertion criteria schizophrenia
- p.Tyr158delinsIleHis No assertion criteria CHN2-related disorder