Sugi Variant

Sugi Variant/CLCN2

CLCN2 — 665 ClinVar variants

All ClinVar germline CLCN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 367 flagged for review →

21 Pathogenic · 5 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 29 Conflicting · 22 Benign · 13 Benign/Likely benign · 188 Likely benign · 368 Uncertain significance

Full CLCN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 367

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 agree, ClinVar conflicts 11

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 198

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 198

Predictors split 158

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 158

All CLCN2 variants

Pathogenic 21

  • p.Arg172Gln Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Gly382fs Multiple submitters leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • c.1397-1G>A Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Ala638fs Single submitter
  • p.Arg277fs Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Arg71Ter Single submitter CLCN2-related disorder
  • p.Arg753Ter Single submitter
  • p.Ile329fs Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Leu21fs Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Leu803Ter Single submitter
  • p.Pro461fs Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Pro713fs Single submitter
  • p.Ser375fs Single submitter CLCN2-related disorder
  • p.Ser476fs Single submitter
  • p.Thr514fs Single submitter
  • p.Ala500Val No assertion criteria leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Leu144_Ile145del No assertion criteria leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Lys362Ter No assertion criteria familial hyperaldosteronism type II
  • p.Met22Lys No assertion criteria familial hyperaldosteronism type II ⚠
  • p.Ser865Arg No assertion criteria familial hyperaldosteronism type II ⚠
  • p.Tyr26Asn No assertion criteria familial hyperaldosteronism type II

Pathogenic/Likely pathogenic 5

  • p.Arg610Ter Multiple submitters leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Glu619Ter Multiple submitters CLCN2-related disorder
  • p.Gly24Asp Multiple submitters familial hyperaldosteronism type II ⚠
  • p.Leu223fs Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Trp570Ter Multiple submitters CLCN2-related disorder

Likely pathogenic 19

  • c.898+1G>A Multiple submitters familial hyperaldosteronism type II
  • p.Arg471His Multiple submitters familial hyperaldosteronism type II
  • c.1086-2A>G Single submitter
  • c.220+1G>A Single submitter
  • c.221-2A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 11
  • c.2271+1_2271+2delinsCA Single submitter CLCN2-related disorder
  • c.353-1G>T Single submitter
  • c.63+1G>A Single submitter CLCN2-related disorder
  • c.64-1G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Arg309Ter Single submitter familial hyperaldosteronism type II
  • p.Arg357fs Single submitter epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Cys69Ter Single submitter
  • p.Gln796Ter Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Glu690Ter Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Gly150fs Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Gly474fs Single submitter
  • p.Gly65fs Single submitter epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Thr517Met Single submitter epilepsy, idiopathic generalized, susceptibility to, 11
  • c.1855+2T>C No assertion criteria CLCN2-related disorder

Conflicting classifications of pathogenicity 29

  • c.1856-3C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 11
  • c.220+15G>A Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • c.2218-7A>G Single submitter
  • c.63+4A>G Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • c.773-9C>G Single submitter familial hyperaldosteronism type II
  • p.Ala212Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala330Val Single submitter Inborn genetic diseases ⚠
  • p.Arg124Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg235Gln Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema ⚠
  • p.Arg25Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg273= Single submitter epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Arg577Gln Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema ⚠
  • p.Arg644= Single submitter epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Arg688Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg725Gln Single submitter epilepsy, idiopathic generalized, susceptibility to, 11 ⚠
  • p.Arg73His Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema ⚠
  • p.Arg800Gln Single submitter epilepsy, idiopathic generalized, susceptibility to, 11 ⚠
  • p.Arg886Gln Single submitter epilepsy, idiopathic generalized, susceptibility to, 11 ⚠
  • p.Asn356Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp599Asn Single submitter familial hyperaldosteronism type II ⚠
  • p.Asp895Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp90His Single submitter ⚠
  • p.Ile809Val Single submitter hereditary ataxia ⚠
  • p.Leu415Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe82Leu Single submitter familial hyperaldosteronism type II ⚠
  • p.Pro381Ala Single submitter epilepsy, idiopathic generalized, susceptibility to, 11 ⚠
  • p.Pro733Ser Single submitter leukoencephalopathy with mild cerebellar ataxia and white matter edema ⚠
  • p.Thr657Pro Single submitter familial hyperaldosteronism type II ⚠
  • p.Met200fs No assertion criteria leukoencephalopathy with mild cerebellar ataxia and white matter edema

Benign 22

Benign/Likely benign 13

  • c.1086-17G>A Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 11
  • c.2144-5C>T Multiple submitters
  • c.2271+8T>G Multiple submitters familial hyperaldosteronism type II
  • c.2415+4_2415+5dup Multiple submitters leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • c.616-19C>T Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Ala242= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 11
  • p.Arg644Cys Multiple submitters familial hyperaldosteronism type II ⚠
  • p.Arg646Gln Multiple submitters familial hyperaldosteronism type II ⚠
  • p.Arg68His Multiple submitters leukoencephalopathy with mild cerebellar ataxia and white matter edema ⚠
  • p.Arg725Trp Multiple submitters leukoencephalopathy with mild cerebellar ataxia and white matter edema ⚠
  • p.Pro48Arg Multiple submitters leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • p.Ser661Thr Multiple submitters
  • p.Thr376= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 11

Likely benign 188

Uncertain significance 368

Showing the top 300 by review status; the full set is in the sitemap.