CSTB — 161 ClinVar variants
All ClinVar germline CSTB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
8 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 11 Conflicting · 6 Benign · 4 Benign/Likely benign · 53 Likely benign · 67 Uncertain significance
Full CSTB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CSTB p.Val65Ile
Conflicting
Single submitter
progressive myoclonus epilepsy
Predictors lean, ClinVar uncertain 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CSTB p.Ala90Thr
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.Gln10Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSTB p.Ser72Pro
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
- CSTB p.Ala14Ser Uncertain significance Single submitter
-
CSTB p.Ala49Glu
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Ala90Gly
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Asp63Glu
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Cys3Trp
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Gln46Arg
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Ile19Val
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Pro6Leu
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Thr16Ile
Uncertain significance
Single submitter
progressive myoclonus epilepsy
Predictors split 41
The independent predictors disagree with each other — read with care.
-
CSTB p.Ala49Thr
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.Asn52Ile
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.Gln10Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSTB p.Glu29Lys
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.His58Tyr
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.His75Arg
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.His92Tyr
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.Lys56Arg
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.Pro79Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSTB p.Tyr53Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSTB p.Val57Leu
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.Val57Met
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.Val65Leu
Uncertain significance
Multiple submitters
progressive myoclonus epilepsy
-
CSTB p.Ala12Thr
Uncertain significance
Single submitter
progressive myoclonus epilepsy
- CSTB p.Ala49Val Uncertain significance Single submitter
-
CSTB p.Arg68Pro
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Glu62Lys
Uncertain significance
Single submitter
progressive myoclonus epilepsy
- CSTB p.Gly60Ser Uncertain significance Single submitter
-
CSTB p.His66Tyr
Uncertain significance
Single submitter
progressive myoclonus epilepsy
- CSTB p.His75Tyr Uncertain significance Single submitter
-
CSTB p.Lys33Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTB p.Lys34Glu
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Lys39Arg
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Lys78Gln
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Phe38Tyr
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Phe43Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTB p.Phe54Val
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Phe64Cys
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Pro11Ser
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Pro36Ser
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Pro6Ala
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Pro74Leu
Uncertain significance
Single submitter
progressive myoclonus epilepsy
- CSTB p.Thr13Ala Uncertain significance Single submitter
-
CSTB p.Thr9Lys
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Thr9Met
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Tyr97Cys
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Val37Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSTB p.Val41Met
Conflicting
Single submitter
Inborn genetic diseases
-
CSTB p.Val47Gly
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Val47Leu
Uncertain significance
Single submitter
progressive myoclonus epilepsy
-
CSTB p.Val59Ile
Uncertain significance
Single submitter
progressive myoclonus epilepsy
All CSTB variants
Pathogenic 8
- c.67-1G>C Multiple submitters microcephaly
- p.Ala49fs Multiple submitters progressive myoclonus epilepsy
- p.Arg68Ter Multiple submitters progressive myoclonus epilepsy
- c.67-1G>A Single submitter progressive myoclonus epilepsy
- p.Val41fs Single submitter progressive myoclonus epilepsy
- p.Val69fs Single submitter progressive myoclonus epilepsy
- c.-210CCCCGCCCCGCG[2_3] No assertion criteria Unverricht-Lundborg syndrome
- p.Gln71Pro No assertion criteria Unverricht-Lundborg syndrome
Pathogenic/Likely pathogenic 3
- p.Gln22Ter Multiple submitters progressive myoclonus epilepsy
- p.Gln46Ter Multiple submitters Inborn genetic diseases
- p.Leu73fs Multiple submitters Inborn genetic diseases
Likely pathogenic 9
- p.Gln26Ter Single submitter Unverricht-Lundborg syndrome
- p.Glu15Ter Single submitter
- p.Gly4Arg Single submitter Unverricht-Lundborg syndrome
- p.Gly4Trp Single submitter Unverricht-Lundborg syndrome
- p.Leu82fs Single submitter Inborn genetic diseases
- c.169-2A>G No assertion criteria Unverricht-Lundborg syndrome
- p.Gln22= No assertion criteria Unverricht-Lundborg syndrome
- p.Lys56= No assertion criteria Unverricht-Lundborg syndrome
- p.Ser42Ter No assertion criteria Unverricht-Lundborg syndrome
Conflicting classifications of pathogenicity 11
- c.169-14C>T Single submitter progressive myoclonus epilepsy
- c.67-4C>G Single submitter progressive myoclonus epilepsy
- c.-12G>A Single submitter Unverricht-Lundborg syndrome
- c.-42C>T Single submitter Unverricht-Lundborg syndrome
- c.*355C>G Single submitter Unverricht-Lundborg syndrome
- p.Asn84fs Single submitter progressive myoclonus epilepsy
- p.Cys3= Single submitter progressive myoclonus epilepsy
- p.Glu15= Single submitter progressive myoclonus epilepsy
- p.Met1fs Single submitter progressive myoclonus epilepsy
- p.Val41Met Single submitter Inborn genetic diseases ⚠
- p.Val65Ile Single submitter progressive myoclonus epilepsy ⚠
Benign 6
- c.66+89T>C Multiple submitters
- c.67-150G>A Multiple submitters
- c.-54C>T Multiple submitters Unverricht-Lundborg syndrome
- c.*325A>G Multiple submitters Unverricht-Lundborg syndrome
- c.*74T>C Multiple submitters Unverricht-Lundborg syndrome
- c.-36_-24delGAGTCCCCTCGCC Single submitter
Benign/Likely benign 4
Likely benign 53
- c.168+53C>T Multiple submitters
- c.66+108T>C Multiple submitters
- c.67-12C>T Multiple submitters progressive myoclonus epilepsy
- c.*69A>G Multiple submitters Unverricht-Lundborg syndrome
- c.*93A>G Multiple submitters Unverricht-Lundborg syndrome
- p.Asn32= Multiple submitters progressive myoclonus epilepsy
- p.Asp61= Multiple submitters progressive myoclonus epilepsy
- p.Gly60= Multiple submitters progressive myoclonus epilepsy
- p.His58= Multiple submitters progressive myoclonus epilepsy
- c.168+13C>T Single submitter progressive myoclonus epilepsy
- c.168+19G>T Single submitter progressive myoclonus epilepsy
- c.168+7T>C Single submitter progressive myoclonus epilepsy
- c.168+8G>A Single submitter progressive myoclonus epilepsy
- c.169-10C>G Single submitter progressive myoclonus epilepsy
- c.169-13G>A Single submitter progressive myoclonus epilepsy
- c.169-18A>T Single submitter progressive myoclonus epilepsy
- c.66+10C>A Single submitter progressive myoclonus epilepsy
- c.66+11C>T Single submitter progressive myoclonus epilepsy
- c.66+14G>A Single submitter progressive myoclonus epilepsy
- c.66+15G>C Single submitter progressive myoclonus epilepsy
- c.66+169A>T Single submitter
- c.66+20G>C Single submitter progressive myoclonus epilepsy
- c.67-10T>G Single submitter progressive myoclonus epilepsy
- c.67-175dup Single submitter
- c.67-324G>A Single submitter
- c.67-4C>T Single submitter progressive myoclonus epilepsy
- c.-13C>G Single submitter
- c.-47G>T Single submitter
- c.-48_-36delCGTCCCCTCGCCG Single submitter
- c.-50C>G Single submitter
- c.-50C>T Single submitter
- c.*19C>T Single submitter
- p.Ala14= Single submitter progressive myoclonus epilepsy
- p.Ala40= Single submitter progressive myoclonus epilepsy
- p.Ala49= Single submitter progressive myoclonus epilepsy
- p.Asn88= Single submitter progressive myoclonus epilepsy
- p.Gln71= Single submitter progressive myoclonus epilepsy
- p.Gly4= Single submitter progressive myoclonus epilepsy
- p.Leu67= Single submitter progressive myoclonus epilepsy
- p.Leu73= Single submitter progressive myoclonus epilepsy
- p.Leu82= Single submitter progressive myoclonus epilepsy
- p.Lys91= Single submitter progressive myoclonus epilepsy
- p.Phe64= Single submitter progressive myoclonus epilepsy
- p.Phe98= Single submitter progressive myoclonus epilepsy
- p.Pro11= Single submitter progressive myoclonus epilepsy
- p.Ser45= Single submitter progressive myoclonus epilepsy
- p.Thr13= Single submitter progressive myoclonus epilepsy
- p.Thr81= Single submitter progressive myoclonus epilepsy
- p.Thr9= Single submitter progressive myoclonus epilepsy
- p.Val37= Single submitter progressive myoclonus epilepsy
- p.Val48= Single submitter progressive myoclonus epilepsy
- p.Val59= Single submitter progressive myoclonus epilepsy
- p.Val69= Single submitter progressive myoclonus epilepsy
Uncertain significance 67
- p.Ala49Thr Multiple submitters progressive myoclonus epilepsy ⚠
- p.Ala90Thr Multiple submitters progressive myoclonus epilepsy ⚠
- p.Asn52Ile Multiple submitters progressive myoclonus epilepsy ⚠
- p.Gln10Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln10Pro Multiple submitters Inborn genetic diseases ⚠
- p.Glu29Lys Multiple submitters progressive myoclonus epilepsy ⚠
- p.His58Tyr Multiple submitters progressive myoclonus epilepsy ⚠
- p.His75Arg Multiple submitters progressive myoclonus epilepsy ⚠
- p.His92Tyr Multiple submitters progressive myoclonus epilepsy ⚠
- p.Lys56Arg Multiple submitters progressive myoclonus epilepsy ⚠
- p.Pro79Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser72Pro Multiple submitters progressive myoclonus epilepsy ⚠
- p.Tyr53Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val57Leu Multiple submitters progressive myoclonus epilepsy ⚠
- p.Val57Met Multiple submitters progressive myoclonus epilepsy ⚠
- p.Val65Leu Multiple submitters progressive myoclonus epilepsy ⚠
- c.168+5A>G Single submitter progressive myoclonus epilepsy
- c.168+6G>C Single submitter progressive myoclonus epilepsy
- c.169-5C>G Single submitter Inborn genetic diseases
- c.66+3G>C Single submitter progressive myoclonus epilepsy
- c.-43C>G Single submitter Unverricht-Lundborg syndrome
- c.*209A>T Single submitter Unverricht-Lundborg syndrome
- c.*227A>G Single submitter Unverricht-Lundborg syndrome
- c.*287G>A Single submitter Unverricht-Lundborg syndrome
- c.*301G>A Single submitter Unverricht-Lundborg syndrome
- c.*319G>A Single submitter Unverricht-Lundborg syndrome
- c.*334G>A Single submitter Unverricht-Lundborg syndrome
- c.*435G>A Single submitter Unverricht-Lundborg syndrome
- p.Ala12= Single submitter
- p.Ala12Thr Single submitter progressive myoclonus epilepsy ⚠
- p.Ala14Ser Single submitter ⚠
- p.Ala49Glu Single submitter progressive myoclonus epilepsy ⚠
- p.Ala49Val Single submitter ⚠
- p.Ala90Gly Single submitter progressive myoclonus epilepsy ⚠
- p.Arg68Pro Single submitter progressive myoclonus epilepsy ⚠
- p.Asn32del Single submitter progressive myoclonus epilepsy
- p.Asp63Glu Single submitter progressive myoclonus epilepsy ⚠
- p.Cys3Trp Single submitter progressive myoclonus epilepsy ⚠
- p.Gln46Arg Single submitter progressive myoclonus epilepsy ⚠
- p.Glu62Lys Single submitter progressive myoclonus epilepsy ⚠
- p.Gly60Ser Single submitter ⚠
- p.His66Tyr Single submitter progressive myoclonus epilepsy ⚠
- p.His75Tyr Single submitter ⚠
- p.Ile19Val Single submitter progressive myoclonus epilepsy ⚠
- p.Lys33Asn Single submitter Inborn genetic diseases ⚠
- p.Lys34Glu Single submitter progressive myoclonus epilepsy ⚠
- p.Lys39Arg Single submitter progressive myoclonus epilepsy ⚠
- p.Lys78Gln Single submitter progressive myoclonus epilepsy ⚠
- p.Phe38Tyr Single submitter progressive myoclonus epilepsy ⚠
- p.Phe43Leu Single submitter Inborn genetic diseases ⚠
- p.Phe54Val Single submitter progressive myoclonus epilepsy ⚠
- p.Phe64Cys Single submitter progressive myoclonus epilepsy ⚠
- p.Pro11Ser Single submitter progressive myoclonus epilepsy ⚠
- p.Pro36Ser Single submitter progressive myoclonus epilepsy ⚠
- p.Pro6Ala Single submitter progressive myoclonus epilepsy ⚠
- p.Pro6Leu Single submitter progressive myoclonus epilepsy ⚠
- p.Pro74Leu Single submitter progressive myoclonus epilepsy ⚠
- p.Ter99Arg Single submitter progressive myoclonus epilepsy
- p.Thr13Ala Single submitter ⚠
- p.Thr16Ile Single submitter progressive myoclonus epilepsy ⚠
- p.Thr9Lys Single submitter progressive myoclonus epilepsy ⚠
- p.Thr9Met Single submitter progressive myoclonus epilepsy ⚠
- p.Tyr97Cys Single submitter progressive myoclonus epilepsy ⚠
- p.Val37Gly Single submitter Inborn genetic diseases ⚠
- p.Val47Gly Single submitter progressive myoclonus epilepsy ⚠
- p.Val47Leu Single submitter progressive myoclonus epilepsy ⚠
- p.Val59Ile Single submitter progressive myoclonus epilepsy ⚠