Sugi Variant

Sugi Variant/WWOX

WWOX — 1063 ClinVar variants

All ClinVar germline WWOX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 408 flagged for review →

47 Pathogenic · 17 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 44 Conflicting · 77 Benign · 27 Benign/Likely benign · 380 Likely benign · 443 Uncertain significance

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

⚑ Evidence disagreements 408

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 265

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 265

Predictors split 114

The independent predictors disagree with each other — read with care.

All WWOX variants

Pathogenic 47

  • c.173-1G>C Multiple submitters Early Infantile Epileptic Encephalopathy, Autosomal Recessive
  • c.173-1G>T Multiple submitters developmental and epileptic encephalopathy, 1
  • c.606-1G>A Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Arg54Ter Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Gln43Ter Multiple submitters developmental and epileptic encephalopathy, 28
  • p.Glu391Ter Multiple submitters developmental and epileptic encephalopathy, 28
  • p.His236fs Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Ser250Ter Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Trp44Ter Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Tyr107Ter Multiple submitters developmental and epileptic encephalopathy, 28
  • p.Tyr61Ter Multiple submitters developmental and epileptic encephalopathy, 28
  • c.172+1G>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.231-1G>C Single submitter developmental and epileptic encephalopathy, 28
  • c.409_409+14del Single submitter WWOX-related disorder
  • c.409+1G>T Single submitter developmental and epileptic encephalopathy, 28
  • c.409+2T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.410-13782_516+59745del Single submitter developmental and epileptic encephalopathy, 28
  • c.410-17474_516+10296del Single submitter esophageal squamous cell carcinoma
  • c.(516+1_517-1 Single submitter developmental and epileptic encephalopathy, 28
  • c.517-11252_606-17640del Single submitter developmental and epileptic encephalopathy, 28
  • c.517-1G>T Single submitter developmental and epileptic encephalopathy, 1
  • c.517-2A>G Single submitter
  • c.606-870_1056+126154del Single submitter developmental and epileptic encephalopathy, 28
  • p.Arg160fs Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Arg346fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Asn285fs Single submitter
  • p.Asn378del Single submitter Neurodevelopmental delay
  • p.Asp16fs Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gln244fs Single submitter developmental and epileptic encephalopathy, 28
  • p.Gln353Ter Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu66Ter Single submitter developmental and epileptic encephalopathy, 28
  • p.Gly57fs Single submitter developmental and epileptic encephalopathy, 28
  • p.Gly62Ter Single submitter developmental and epileptic encephalopathy, 28
  • p.Met1Leu Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Met1Thr Single submitter developmental and epileptic encephalopathy, 1
  • p.Met352Ile Single submitter esophageal cancer ⚠
  • p.Pro47Thr Single submitter WWOX-related disorder
  • p.Ser260Ter Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Ser271Ter Single submitter developmental and epileptic encephalopathy, 1
  • p.Thr112fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Thr38fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Trp288Ter Single submitter developmental and epileptic encephalopathy, 1
  • p.Tyr328fs Single submitter developmental and epileptic encephalopathy, 28
  • p.Val177fs Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.517-44258_606-268del No assertion criteria developmental and epileptic encephalopathy, 28
  • p.Pro47Arg No assertion criteria developmental and epileptic encephalopathy, 28
  • p.Trp335Ter No assertion criteria developmental and epileptic encephalopathy, 28

Pathogenic/Likely pathogenic 17

  • c.107+1_107+2delinsTA Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.107+1G>A Multiple submitters WWOX-related disorder
  • c.409+1G>C Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.410-1G>A Multiple submitters developmental and epileptic encephalopathy, 1
  • c.605+2T>C Multiple submitters developmental and epileptic encephalopathy, 28
  • p.Ala185fs Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Arg264Ter Multiple submitters developmental and epileptic encephalopathy, 28
  • p.Gln230Pro Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Gln244Ter Multiple submitters developmental and epileptic encephalopathy, 28
  • p.Gln72Ter Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Glu195Ter Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Glu306fs Multiple submitters WWOX-related disorder
  • p.Gly372Arg Multiple submitters developmental and epileptic encephalopathy, 28
  • p.Gly372Ter Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Leu371fs Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Phe348fs Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Tyr85Ter Multiple submitters developmental and epileptic encephalopathy, 1

Likely pathogenic 28

  • c.107+2_107+5del Multiple submitters developmental and epileptic encephalopathy, 28
  • c.605_605+3del Multiple submitters developmental and epileptic encephalopathy, 1
  • c.791+1G>T Multiple submitters developmental and epileptic encephalopathy, 28
  • c.107+1G>C Single submitter developmental and epileptic encephalopathy, 28
  • c.107+2T>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.108-2A>T Single submitter developmental and epileptic encephalopathy, 28
  • c.172+2T>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.410-2A>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.517-24594_1056+2408dup Single submitter developmental and epileptic encephalopathy, 28
  • c.517-33804G>A Single submitter developmental and epileptic encephalopathy, 28
  • c.517-92_606-43del Single submitter developmental and epileptic encephalopathy, 28
  • c.605+1_605+2delinsAA Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.66_107+82delinsC Single submitter developmental and epileptic encephalopathy, 1
  • c.791+1G>A Single submitter developmental and epileptic encephalopathy, 28
  • c.791+1G>C Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg310Pro Single submitter developmental and epileptic encephalopathy, 28
  • p.Asn378fs Single submitter WWOX-related disorder
  • p.Asp58Asn Single submitter ⚠
  • p.Cys299Arg Single submitter developmental and epileptic encephalopathy, 28
  • p.Gln191Ter Single submitter infantile spasms
  • p.Glu171Ter Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gly135Ter Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.His46Tyr Single submitter developmental and epileptic encephalopathy, 1
  • p.Ile168_Leu169insTer Single submitter WWOX-related disorder
  • p.Lys142Ter Single submitter WWOX-related disorder
  • p.Thr12Met Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Tyr34Ter Single submitter congenital nervous system disorder
  • p.Asp11fs No assertion criteria Developmental delay

Conflicting classifications of pathogenicity 44

  • c.173-6T>G Single submitter WWOX-related disorder
  • c.410-3T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.517-10C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.605+5G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.*134C>T Single submitter
  • c.*150_*154dup Single submitter
  • p.Ala141Thr Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala179Ser Single submitter esophageal cancer ⚠
  • p.Arg104Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg156Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg188Ser Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Arg249Cys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg279His Single submitter Inborn genetic diseases ⚠
  • p.Arg295= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg310Cys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn377Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Cys362Tyr Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Cys382= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gln389Ter Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu139Ala Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Glu178Gly Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu17Lys Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu402Ter Single submitter developmental and epileptic encephalopathy, 28
  • p.Gly109Ser Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Gly137Glu Single submitter WWOX-related disorder ⚠
  • p.Gly235Arg Single submitter Paediatric disorders ⚠
  • p.Gly410Cys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly414Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.His147Pro Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.His233Asn Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ile136Val Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ile256Val Single submitter Inborn genetic diseases ⚠
  • p.Leu182Val Single submitter Inborn genetic diseases ⚠
  • p.Leu239Arg Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Leu272Phe Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Lys284Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Met180Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro384= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser318Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser401= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Thr111Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Thr12Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Thr393Met Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Val202Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠

Benign 77

Benign/Likely benign 27

  • c.107+18G>A Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.108-12del Multiple submitters developmental and epileptic encephalopathy, 1
  • c.108-13dup Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.108-14_108-13dup Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.108-6dup Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.410-4A>T Multiple submitters developmental and epileptic encephalopathy, 1
  • c.517-108205A>C Multiple submitters
  • c.517-108230A>G Multiple submitters esophageal cancer
  • c.517-17A>G Multiple submitters developmental and epileptic encephalopathy, 28
  • c.*200GGGCT[1] Multiple submitters
  • p.Ala292= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Ala345= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Ala399= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg120Trp Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg249= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg279Cys Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg381Cys Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Asn269= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Asn378= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Asp223= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.His205Asn Multiple submitters developmental and epileptic encephalopathy, 28
  • p.Pro252Ala Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Pro98Leu Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Ser296= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Ser413= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ser413Tyr Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Val206= Multiple submitters developmental and epileptic encephalopathy, 28

Likely benign 380

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

  • c.1056+122C>T Multiple submitters
  • c.1056+16C>A Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.1056+34T>C Multiple submitters
  • c.1056+64C>G Multiple submitters
  • c.1057-18_1057-17dup Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.1057-4C>T Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.107+252C>T Multiple submitters esophageal cancer
  • c.173-11T>C Multiple submitters developmental and epileptic encephalopathy, 1
  • c.173-91G>T Multiple submitters
  • c.230+131G>A Multiple submitters
  • c.231-11C>G Multiple submitters developmental and epileptic encephalopathy, 1
  • c.231-17C>A Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.231-20C>G Multiple submitters developmental and epileptic encephalopathy, 1
  • c.231-41G>C Multiple submitters
  • c.409+16A>T Multiple submitters developmental and epileptic encephalopathy, 1
  • c.517-108072A>G Multiple submitters
  • c.517-108237G>A Multiple submitters
  • c.517-12C>A Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.517-12C>T Multiple submitters developmental and epileptic encephalopathy, 1
  • c.517-19T>C Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.605+11C>T Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.605+17A>C Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.605+9T>A Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.791+22G>A Multiple submitters
  • c.792-135G>A Multiple submitters
  • c.792-15T>C Multiple submitters developmental and epileptic encephalopathy, 1
  • c.*14C>T Multiple submitters
  • c.*284C>G Multiple submitters
  • c.*293G>A Multiple submitters
  • c.*33G>C Multiple submitters
  • c.*44G>T Multiple submitters
  • c.*53C>A Multiple submitters
  • c.*53C>T Multiple submitters
  • c.*97A>G Multiple submitters
  • p.Ala161= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala289= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala289Val Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Arg104= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg381= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg381His Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Arg395= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Asn210= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Asn285= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Asn319= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Asp108= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Gln105= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Gln241= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Gln72= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Glu23= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Glu39= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Gly137= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Gly324= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Ile301= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Leu184= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Leu341Met Multiple submitters Inborn genetic diseases
  • p.Phe138= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Phe193= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Phe74= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Pro101= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Pro20= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Pro217= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Ser189= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Ser262= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ser390= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Thr12= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Thr140= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Thr26= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Thr317= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Thr343= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Val151= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Val258= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Val316= Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • c.1056+10C>T Single submitter
  • c.1056+13C>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1056+18G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1056+18G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1056+20C>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1056+6A>G Single submitter
  • c.1056+6A>T Single submitter
  • c.1056+7_1056+9del Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1056+8A>T Single submitter developmental and epileptic encephalopathy, 1
  • c.1057-10G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1057-10G>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-12_1057-11insCCT Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-13_1057-11del Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-14_1057-13insTCTC Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-142C>G Single submitter
  • c.1057-16del Single submitter
  • c.1057-17_1057-14del Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-18T>G Single submitter developmental and epileptic encephalopathy, 1
  • c.1057-20C>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-20C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.1057-215227dup Single submitter
  • c.1057-215238_1057-215237insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG Single submitter
  • c.1057-215243A>C Single submitter
  • c.1057-215244A>T Single submitter
  • c.1057-22_1057-19del Single submitter developmental and epileptic encephalopathy, 1
  • c.1057-22_1057-20del Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-23dup Single submitter
  • c.1057-7T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-9_1057-6dup Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.1057-9G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.107+10C>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+10C>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+12G>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+12G>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+13C>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+15G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+16T>G Single submitter developmental and epileptic encephalopathy, 1
  • c.107+17G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+17G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.107+7G>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+8G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.108-12_108-11del Single submitter developmental and epileptic encephalopathy, 1
  • c.108-12_108-6del Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.108-12G>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.108-14T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.108-169A>G Single submitter
  • c.108-18T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.108-19A>T Single submitter developmental and epileptic encephalopathy, 1
  • c.108-20G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.108-295A>T Single submitter
  • c.108-42T>A Single submitter
  • c.108-7T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.172+10T>A Single submitter developmental and epileptic encephalopathy, 1
  • c.172+136G>A Single submitter
  • c.172+15G>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.172+17C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.172+19A>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.172+234C>T Single submitter
  • c.172+7A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.172+9G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.173-10T>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.173-12C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.173-14T>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.173-16C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.173-20C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.173-4T>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.173-5T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.173-9G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.230+20C>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.230+25C>G Single submitter
  • c.230+9C>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.230+9C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.231-10T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.231-16T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.231-17C>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.231-18G>T Single submitter developmental and epileptic encephalopathy, 1
  • c.231-6G>T Single submitter developmental and epileptic encephalopathy, 1
  • c.231-7T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.231-8T>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.231-9T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.409+10T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.409+12A>T Single submitter developmental and epileptic encephalopathy, 1
  • c.409+16_409+17delinsCA Single submitter developmental and epileptic encephalopathy, 1
  • c.409+16A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.409+17G>A Single submitter
  • c.409+17G>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.409+244G>C Single submitter
  • c.409+274T>A Single submitter
  • c.409+8C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.409+9T>A Single submitter developmental and epileptic encephalopathy, 1
  • c.410-14C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.410-15T>A Single submitter developmental and epileptic encephalopathy, 1
  • c.410-19A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.410-273G>T Single submitter
  • c.410-305A>G Single submitter
  • c.410-4A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.410-6C>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.516+12A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.516+14T>A Single submitter developmental and epileptic encephalopathy, 1
  • c.516+14TGT[2] Single submitter developmental and epileptic encephalopathy, 1
  • c.516+15G>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.516+16T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.516+19T>A Single submitter developmental and epileptic encephalopathy, 1
  • c.516+6_516+7delinsCT Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.516+7G>C Single submitter
  • c.516+7G>T Single submitter
  • c.517-108047C>T Single submitter
  • c.517-108146T>G Single submitter
  • c.517-10C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.517-11T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.517-20T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.517-48C>G Single submitter
  • c.517-4G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.517-4G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.517-6T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.517-74C>G Single submitter
  • c.517-7A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.517-8C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.517-9T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.605+10C>A Single submitter developmental and epileptic encephalopathy, 1
  • c.605+10C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.605+12A>T Single submitter developmental and epileptic encephalopathy, 1
  • c.605+13G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.605+17A>T Single submitter
  • c.605+18G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.605+19G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.605+20G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.605+283G>C Single submitter
  • c.605+7G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.605+7G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.605+9T>G Single submitter developmental and epileptic encephalopathy, 1
  • c.606-14A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.606-16A>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.606-17G>C Single submitter
  • c.606-18G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.606-245A>G Single submitter
  • c.606-254C>G Single submitter
  • c.606-9A>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.791+10A>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.791+11A>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.791+14G>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.791+15C>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.791+15C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.791+16A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.791+18A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.791+20T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.791+273G>T Single submitter
  • c.792-16A>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.792-182A>G Single submitter
  • c.792-19C>A Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.792-19C>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.792-20T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.792-20T>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.792-222T>G Single submitter
  • c.792-6T>G Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.792-9A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.-23_-22delinsT Single submitter
  • c.-25G>A Single submitter
  • c.-27G>A Single submitter
  • c.-27G>C Single submitter
  • c.-34G>A Single submitter
  • c.-39A>T Single submitter
  • c.*107G>A Single submitter
  • c.*15G>A Single submitter
  • c.*162G>C Single submitter
  • c.*18T>C Single submitter
  • c.*1G>C Single submitter
  • c.*269G>A Single submitter
  • c.*33G>A Single submitter
  • c.*46C>T Single submitter
  • c.*54G>T Single submitter
  • c.*56A>C Single submitter
  • p.Ala141= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala154= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala159= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala185= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Ala196= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala2= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala211= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala212= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Ala215= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala253= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Ala3= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala388= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala394= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala91= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Arg120= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Arg156= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Arg160= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg188= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg314= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg333= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Arg403= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Arg5= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg54= Single submitter developmental and epileptic encephalopathy, 1
  • p.Asn305= Single submitter developmental and epileptic encephalopathy, 1
  • p.Asn330= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Asn70= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Asn80= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Asp10= Single submitter developmental and epileptic encephalopathy, 1
  • p.Asp87= Single submitter developmental and epileptic encephalopathy, 1
  • p.Cys248= Single submitter developmental and epileptic encephalopathy, 1
  • p.Cys362= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gln191= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gln230= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gln354= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gln406= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gln412= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu15= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu170= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu171= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu226= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu24= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu306= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu369= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu402= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gly124= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly21= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly224= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly273= Single submitter
  • p.Gly30= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gly315= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gly370= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly373= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly410= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly414= Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gly8= Single submitter developmental and epileptic encephalopathy, 1
  • p.His263= Single submitter autosomal recessive spinocerebellar ataxia 12

Uncertain significance 443

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

  • c.231-3C>A Multiple submitters developmental and epileptic encephalopathy, 28
  • c.791+4G>T Multiple submitters developmental and epileptic encephalopathy, 1
  • c.*15G>T Multiple submitters developmental and epileptic encephalopathy, 28
  • p.Ala149Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala161Thr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala161Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala185Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala199Gly Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala211Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala212Val Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala253Ser Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala292Pro Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala320Thr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala356Thr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala363Gly Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala388Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala394Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala399Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala399Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala3Ser Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala3Thr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala7Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala91Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg104Trp Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg167Cys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg167His Multiple submitters developmental and epileptic encephalopathy, 28 ⚠
  • p.Arg188Cys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg188His Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg249His Multiple submitters esophageal cancer ⚠
  • p.Arg249Ser Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg254Cys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg264Gln Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg309Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg309His Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg314Cys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg333Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg333His Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg346Ser Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg395Gln Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg395Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg408Gln Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg408Gly Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg408Leu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg408Trp Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asn294Asp Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn300Asp Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn330Lys Multiple submitters esophageal cancer ⚠
  • p.Asn330Ser Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asn36Asp Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn36Ile Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp108Asn Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asp10His Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp223Asn Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Asp223Val Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asp286Tyr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asp58Gly Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asp87Glu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp96Gly Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Cys380Tyr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Cys382Tyr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Gln230Glu Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Gln241Glu Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Gln389Glu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gln65Lys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gln72Glu Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu170Lys Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu17Asp Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu261Gly Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu306Lys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu387Gly Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu391Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu402Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu402Lys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly148Ala Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly273Glu Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Gly315Arg Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Gly324Glu Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Gly372Glu Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.His147Arg Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.His147Tyr Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.His173Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His236Gln Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.His322Arg Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.His322Gln Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.His332Pro Multiple submitters developmental and epileptic encephalopathy, 28 ⚠
  • p.Ile152Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ile256Phe Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ile256Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu184Phe Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu18Val Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Leu216Pro Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu220Val Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Leu225Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu280Val Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Leu307Val Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Leu4Arg Multiple submitters Inborn genetic diseases
  • p.Leu4Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys200Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys28Gln Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Lys51Arg Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Met114Thr Multiple submitters esophageal cancer ⚠
  • p.Met326Thr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Met352Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Met383Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Phe197Leu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Phe237Leu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Phe348Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro101Ala Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro101Ser Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Pro20Leu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro282Leu Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Pro323Arg Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro347Ala Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Pro347Thr Multiple submitters esophageal cancer ⚠
  • p.Ser189Asn Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser219Asn Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser250Thr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ser271Phe Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ser281Phe Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ser296Cys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser312Phe Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ser312Tyr Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ser411Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser413Cys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Thr283Lys Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Thr339Ile Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Thr358Ile Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Thr67Ser Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Thr84Ser Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Tyr238Cys Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Tyr287Cys Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Tyr34Cys Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Tyr6His Multiple submitters developmental and epileptic encephalopathy, 28 ⚠
  • p.Tyr85Asp Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Tyr85Cys Multiple submitters ⚠
  • p.Val177Ala Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Val190Met Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Val231Leu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Val240Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val246Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val316Leu Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Val321Ala Multiple submitters autosomal recessive spinocerebellar ataxia 12
  • p.Val337Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val360Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val55Ala Multiple submitters autosomal recessive spinocerebellar ataxia 12 ⚠
  • c.1056+4829C>T Single submitter
  • c.1057-2A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.1057-3C>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.107+6G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.108-3C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.172+5G>A Single submitter developmental and epileptic encephalopathy, 28
  • c.230+3A>T Single submitter developmental and epileptic encephalopathy, 1
  • c.230+6T>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.231-5G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.409+4G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.409+5G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.409+6C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.409+6C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.410-6C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.516+3A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.516+6_516+7inv Single submitter developmental and epileptic encephalopathy, 1
  • c.517-108243C>T Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.(605+1_606-1 Single submitter developmental and epileptic encephalopathy, 28
  • c.605+6_605+18del Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.791+18A>T Single submitter developmental and epileptic encephalopathy, 28
  • c.791+4G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.791+5G>C Single submitter autosomal recessive spinocerebellar ataxia 12
  • c.-3dup Single submitter
  • c.-460C>T Single submitter
  • c.*187_*190dup Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala141Val Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala145= Single submitter
  • p.Ala149Gly Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala149Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala154Asp Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Ala159Gly Single submitter ⚠
  • p.Ala164Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala175Val Single submitter ⚠
  • p.Ala185Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala196Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala196Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala253Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala292Ser Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala292Thr Single submitter ⚠
  • p.Ala356Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala357Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala363Pro Single submitter ⚠
  • p.Ala363Thr Single submitter
  • p.Ala364Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala388Pro Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Ala394fs Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Ala3Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala56Val Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg120Gln Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg249Leu Single submitter ⚠
  • p.Arg254His Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg264= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg264Gly Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg295Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg314Pro Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg381_Cys382del Single submitter developmental and epileptic encephalopathy, 28
  • p.Arg381Gly Single submitter ⚠
  • p.Arg381Leu Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg381Pro Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Arg381Ser Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg395fs Single submitter
  • p.Arg395Gly Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Arg395Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg403fs Single submitter
  • p.Arg54Gln Single submitter ⚠
  • p.Arg89Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn133Tyr Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asn201Asp Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Asn210Ser Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asn269Asp Single submitter ⚠
  • p.Asn285His Single submitter Inborn genetic diseases ⚠
  • p.Asn294Lys Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asn300Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn305Lys Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asn305Ser Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asn377Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn378Cys Single submitter developmental and epileptic encephalopathy, 1
  • p.Asn378Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn80Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp108Glu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp108Val Single submitter Inborn genetic diseases ⚠
  • p.Asp10Tyr Single submitter ⚠
  • p.Asp11Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp121Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp183His Single submitter Inborn genetic diseases ⚠
  • p.Asp245Asn Single submitter ⚠
  • p.Asp267Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp276Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp276Glu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp286Asn Single submitter ⚠
  • p.Asp286His Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asp29Val Single submitter ⚠
  • p.Asp68Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp68Tyr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp77Gly Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Asp95Asn Single submitter ⚠
  • p.Asp96Asn Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp96Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Cys248Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys362Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Cys382_Met383insArgCys Single submitter
  • p.Gln118Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gln353His Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gln353Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gln354Ter Single submitter
  • p.Gln406Glu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gln406His Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gln406Ter Single submitter developmental and epileptic encephalopathy, 1
  • p.Gln43Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu139Gln Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu15Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu15Gln Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu195Ala Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu261Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu306Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu369Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu391fs Single submitter
  • p.Glu391Gln Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu391Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu392Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu392Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu402Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu402Gly Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Glu407Ser Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Glu40del Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu40Gly Single submitter ⚠
  • p.Glu69Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly131Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly137Ala Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Gly137Val Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.Gly224Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly235Val Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Gly315Trp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly324Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly355Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly370Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly370Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly373Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly373Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly414_Ter415del Single submitter autosomal recessive spinocerebellar ataxia 12
  • p.Gly414Ala Single submitter ⚠
  • p.Gly62Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly71Arg Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.Gly71Glu Single submitter Inborn genetic diseases ⚠
  • p.His150Leu Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.His150Pro Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.His150Tyr Single submitter ⚠
  • p.His173Tyr Single submitter developmental and epileptic encephalopathy, 28 ⚠
  • p.His205Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.His233Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.His236Asn Single submitter Inborn genetic diseases ⚠
  • p.His236Asp Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.His263Arg Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠
  • p.His308Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.His308Gln Single submitter autosomal recessive spinocerebellar ataxia 12 ⚠