KLC2 — 192 ClinVar variants
All ClinVar germline KLC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
1 Pathogenic · 1 Conflicting · 14 Benign · 1 Benign/Likely benign · 49 Likely benign · 126 Uncertain significance
Full KLC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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.
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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KLC2 p.Arg509Gln
Uncertain significance
Multiple submitters
spastic paraplegia, optic atropy, and neuropathy
- KLC2 p.Arg616Gln Uncertain significance Multiple submitters
- KLC2 p.Asn170Ser Uncertain significance Multiple submitters
- KLC2 p.Asn364Ser Uncertain significance Multiple submitters
- KLC2 p.Gly233Val Uncertain significance Multiple submitters
- KLC2 p.Met511Thr Uncertain significance Multiple submitters
- KLC2 p.Met612Thr Uncertain significance Multiple submitters
- KLC2 p.Ser123Arg Uncertain significance Multiple submitters
- KLC2 p.Thr356Ala Uncertain significance Multiple submitters
- KLC2 p.Val365Leu Uncertain significance Multiple submitters
- KLC2 p.Ala209Thr Uncertain significance Single submitter
- KLC2 p.Ala23Val Uncertain significance Single submitter
- KLC2 p.Ala259Val Uncertain significance Single submitter
- KLC2 p.Ala283Val Uncertain significance Single submitter
- KLC2 p.Ala340Gly Uncertain significance Single submitter
- KLC2 p.Ala429Val Uncertain significance Single submitter
- KLC2 p.Ala486Thr Uncertain significance Single submitter
- KLC2 p.Arg144His Uncertain significance Single submitter
- KLC2 p.Arg197Trp Uncertain significance Single submitter
- KLC2 p.Arg199His Uncertain significance Single submitter
- KLC2 p.Arg270Gln Uncertain significance Single submitter
- KLC2 p.Arg312Gln Uncertain significance Single submitter
- KLC2 p.Arg425Cys Uncertain significance Single submitter
- KLC2 p.Arg425Gly Uncertain significance Single submitter
- KLC2 p.Arg426Trp Uncertain significance Single submitter
- KLC2 p.Arg502Gln Uncertain significance Single submitter
- KLC2 p.Arg502Trp Uncertain significance Single submitter
- KLC2 p.Arg505His Uncertain significance Single submitter
- KLC2 p.Arg506Cys Uncertain significance Single submitter
- KLC2 p.Arg506Gly Uncertain significance Single submitter
- KLC2 p.Arg506His Uncertain significance Single submitter
- KLC2 p.Arg506Ser Uncertain significance Single submitter
- KLC2 p.Arg518Gln Uncertain significance Single submitter
- KLC2 p.Arg518Gly Uncertain significance Single submitter
- KLC2 p.Arg550Trp Uncertain significance Single submitter
- KLC2 p.Arg554Lys Uncertain significance Single submitter
- KLC2 p.Arg617Gln Uncertain significance Single submitter
- KLC2 p.Arg62His Uncertain significance Single submitter
- KLC2 p.Asn405Ser Uncertain significance Single submitter
- KLC2 p.Asp165Gly Uncertain significance Single submitter
- KLC2 p.Asp166Asn Uncertain significance Single submitter
- KLC2 p.Asp184Asn Uncertain significance Single submitter
- KLC2 p.Asp235Asn Uncertain significance Single submitter
- KLC2 p.Asp252His Uncertain significance Single submitter
- KLC2 p.Asp423Tyr Uncertain significance Single submitter
- KLC2 p.Asp504Val Uncertain significance Single submitter
- KLC2 p.Gln121Arg Uncertain significance Single submitter
- KLC2 p.Gln135Glu Uncertain significance Single submitter
- KLC2 p.Gln211Arg Uncertain significance Single submitter
- KLC2 p.Glu148Lys Uncertain significance Single submitter
- KLC2 p.Glu433Asp Uncertain significance Single submitter
- KLC2 p.Glu46Gln Uncertain significance Single submitter
- KLC2 p.Glu51Asp Uncertain significance Single submitter
- KLC2 p.Glu524Lys Uncertain significance Single submitter
- KLC2 p.Glu56Lys Uncertain significance Single submitter
- KLC2 p.Glu66Lys Uncertain significance Single submitter
- KLC2 p.Glu74Lys Uncertain significance Single submitter
- KLC2 p.Gly182Arg Uncertain significance Single submitter
- KLC2 p.Gly212Asp Uncertain significance Single submitter
- KLC2 p.Gly27Glu Uncertain significance Single submitter
- KLC2 p.Gly293Asp Uncertain significance Single submitter
- KLC2 p.Gly359Arg Uncertain significance Single submitter
- KLC2 p.Gly500Cys Uncertain significance Single submitter
- KLC2 p.Gly500Val Uncertain significance Single submitter
- KLC2 p.Gly516Arg Uncertain significance Single submitter
- KLC2 p.Gly516Val Uncertain significance Single submitter
- KLC2 p.Gly527Glu Uncertain significance Single submitter
- KLC2 p.Gly544Ser Uncertain significance Single submitter
- KLC2 p.Ile392Thr Uncertain significance Single submitter
- KLC2 p.Leu614Val Uncertain significance Single submitter
- KLC2 p.Lys145Arg Uncertain significance Single submitter
- KLC2 p.Met4Leu Uncertain significance Single submitter
- KLC2 p.Met511Ile Uncertain significance Single submitter
- KLC2 p.Pro410Ala Uncertain significance Single submitter
- KLC2 p.Pro569Leu Uncertain significance Single submitter
- KLC2 p.Pro593Leu Uncertain significance Single submitter
- KLC2 p.Ser175Arg Uncertain significance Single submitter
- KLC2 p.Ser403Cys Uncertain significance Single submitter
- KLC2 p.Ser428Ile Uncertain significance Single submitter
- KLC2 p.Ser618Asn Uncertain significance Single submitter
- KLC2 p.Thr241Ser Uncertain significance Single submitter
- KLC2 p.Thr599Ala Uncertain significance Single submitter
- KLC2 p.Tyr292His Uncertain significance Single submitter
- KLC2 p.Tyr347Cys Uncertain significance Single submitter
- KLC2 p.Tyr382Asp Uncertain significance Single submitter
- KLC2 p.Val127Met Uncertain significance Single submitter
- KLC2 p.Val159Ile Uncertain significance Single submitter
- KLC2 p.Val404Gly Uncertain significance Single submitter
- KLC2 p.Val526Met Uncertain significance Single submitter
- KLC2 p.Val590Leu Uncertain significance Single submitter
-
KLC2 p.Arg477Cys
Uncertain significance
No assertion criteria
KLC2-related disorder
Predictors split 21
The independent predictors disagree with each other — read with care.
- KLC2 p.Arg110His Uncertain significance Multiple submitters
- KLC2 p.Arg418Gln Uncertain significance Multiple submitters
- KLC2 p.Arg418Trp Uncertain significance Multiple submitters
- KLC2 p.Arg479His Uncertain significance Multiple submitters
- KLC2 p.Arg505Cys Likely benign Multiple submitters
- KLC2 p.Asp166Val Uncertain significance Multiple submitters
- KLC2 p.Leu274Val Uncertain significance Multiple submitters
- KLC2 p.Met140Val Uncertain significance Multiple submitters
- KLC2 p.Arg348Trp Uncertain significance Single submitter
- KLC2 p.Arg357Cys Uncertain significance Single submitter
- KLC2 p.Arg357His Uncertain significance Single submitter
- KLC2 p.Arg453Cys Uncertain significance Single submitter
- KLC2 p.Arg453His Uncertain significance Single submitter
- KLC2 p.Arg605Gly Uncertain significance Single submitter
- KLC2 p.Gln104Arg Uncertain significance Single submitter
- KLC2 p.Gln117Arg Uncertain significance Single submitter
- KLC2 p.Glu89Asp Uncertain significance Single submitter
- KLC2 p.Met140Ile Uncertain significance Single submitter
- KLC2 p.Met140Leu Uncertain significance Single submitter
- KLC2 p.Val216Ile Uncertain significance Single submitter
- KLC2 p.Arg555His Uncertain significance No assertion criteria
All KLC2 variants
Pathogenic 1
- c.-451_-235del No assertion criteria spastic paraplegia, optic atropy, and neuropathy
Conflicting classifications of pathogenicity 1
- p.Ala429Thr Single submitter ⚠
Benign 14
- c.1117-8G>A Multiple submitters
- c.1444-24C>T Multiple submitters spastic paraplegia, optic atropy, and neuropathy
- c.942+27T>C Multiple submitters spastic paraplegia, optic atropy, and neuropathy
- p.Ala97= Multiple submitters
- p.Arg307= Multiple submitters
- p.Asp362= Multiple submitters spastic paraplegia, optic atropy, and neuropathy
- p.Leu42= Multiple submitters
- p.Pro517Ser Multiple submitters
- c.1266+13G>A Single submitter
- c.1334+7GGGGC[3] Single submitter
- c.460-6T>C Single submitter
- c.753-11C>T Single submitter
- p.Arg426Gln Single submitter
- p.Val290= Single submitter
Benign/Likely benign 1
- p.Ser436= Multiple submitters
Likely benign 49
- p.Ala40= Multiple submitters
- p.Arg505Cys Multiple submitters ⚠
- p.Arg554= Multiple submitters
- p.Glu10= Multiple submitters
- p.Glu171Lys Multiple submitters
- p.Pro169= Multiple submitters
- p.Ser454= Multiple submitters
- p.Thr231= Multiple submitters
- c.1216+9G>A Single submitter
- c.1217-11del Single submitter
- c.1217-6C>T Single submitter
- c.1267-7C>T Single submitter
- c.1334+11C>T Single submitter
- c.1334+12G>A Single submitter
- c.1334+17T>G Single submitter
- c.1443+11A>G Single submitter
- c.1602+14C>T Single submitter
- c.1602+8C>T Single submitter
- c.1727+11C>T Single submitter
- c.1785+13G>A Single submitter
- c.1785+7G>A Single submitter
- c.1786-9dup Single submitter
- c.752+17G>T Single submitter
- c.753-12A>G Single submitter
- p.Ala126= Single submitter
- p.Ala224= Single submitter
- p.Ala340= Single submitter
- p.Ala385= Single submitter
- p.Ala467= Single submitter
- p.Ala468= Single submitter
- p.Arg110= Single submitter
- p.Asp172Glu Single submitter
- p.Asp238= Single submitter
- p.Gln125= Single submitter
- p.Glu592= Single submitter
- p.Gly20= Single submitter
- p.Gly514= Single submitter
- p.His234= Single submitter
- p.Ile17= Single submitter
- p.Leu285= Single submitter
- p.Leu330= Single submitter
- p.Leu333= Single submitter
- p.Leu72= Single submitter
- p.Met3Thr Single submitter
- p.Pro593= Single submitter
- p.Tyr192= Single submitter
- p.Tyr208= Single submitter
- p.Tyr434= Single submitter
- p.Thr387= No assertion criteria KLC2-related disorder
Uncertain significance 126
- p.Arg110His Multiple submitters ⚠
- p.Arg418Gln Multiple submitters ⚠
- p.Arg418Trp Multiple submitters ⚠
- p.Arg479His Multiple submitters ⚠
- p.Arg509Gln Multiple submitters spastic paraplegia, optic atropy, and neuropathy ⚠
- p.Arg616Gln Multiple submitters ⚠
- p.Arg96Gln Multiple submitters
- p.Asn170Ser Multiple submitters ⚠
- p.Asn364Ser Multiple submitters ⚠
- p.Asp166Val Multiple submitters ⚠
- p.Gly233Val Multiple submitters ⚠
- p.Leu274Val Multiple submitters ⚠
- p.Met140Val Multiple submitters ⚠
- p.Met511Thr Multiple submitters ⚠
- p.Met612Thr Multiple submitters ⚠
- p.Ser123Arg Multiple submitters ⚠
- p.Thr231Met Multiple submitters
- p.Thr356Ala Multiple submitters ⚠
- p.Val365Leu Multiple submitters ⚠
- c.1266+5C>G Single submitter
- c.1334+3G>A Single submitter
- c.1785+6G>T Single submitter
- c.229-1G>A Single submitter
- c.529+5G>A Single submitter
- c.942+26_942+27insCGGGGGTCTGGGAGGCAGGGGCCCGGGCAGGC Single submitter
- p.Ala209Thr Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala259Val Single submitter ⚠
- p.Ala280= Single submitter
- p.Ala283Val Single submitter ⚠
- p.Ala340Gly Single submitter ⚠
- p.Ala429Val Single submitter ⚠
- p.Ala486Thr Single submitter ⚠
- p.Arg144His Single submitter ⚠
- p.Arg197Trp Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg270Gln Single submitter ⚠
- p.Arg312Gln Single submitter ⚠
- p.Arg348Trp Single submitter ⚠
- p.Arg357Cys Single submitter ⚠
- p.Arg357His Single submitter ⚠
- p.Arg425Cys Single submitter ⚠
- p.Arg425Gly Single submitter ⚠
- p.Arg426Trp Single submitter ⚠
- p.Arg453Cys Single submitter ⚠
- p.Arg453His Single submitter ⚠
- p.Arg460Trp Single submitter
- p.Arg502Gln Single submitter ⚠
- p.Arg502Trp Single submitter ⚠
- p.Arg505His Single submitter ⚠
- p.Arg506Cys Single submitter ⚠
- p.Arg506Gly Single submitter ⚠
- p.Arg506His Single submitter ⚠
- p.Arg506Ser Single submitter ⚠
- p.Arg518Gln Single submitter ⚠
- p.Arg518Gly Single submitter ⚠
- p.Arg550Gln Single submitter
- p.Arg550Trp Single submitter ⚠
- p.Arg554Lys Single submitter ⚠
- p.Arg605Gly Single submitter ⚠
- p.Arg617Gln Single submitter ⚠
- p.Arg62His Single submitter ⚠
- p.Asn405Ser Single submitter ⚠
- p.Asp165Gly Single submitter ⚠
- p.Asp166Asn Single submitter ⚠
- p.Asp184Asn Single submitter ⚠
- p.Asp235Asn Single submitter ⚠
- p.Asp252His Single submitter ⚠
- p.Asp423Tyr Single submitter ⚠
- p.Asp504Val Single submitter ⚠
- p.Gln104Arg Single submitter ⚠
- p.Gln117Arg Single submitter ⚠
- p.Gln121Arg Single submitter ⚠
- p.Gln135Glu Single submitter ⚠
- p.Gln211Arg Single submitter ⚠
- p.Gln462fs Single submitter
- p.Glu148Lys Single submitter ⚠
- p.Glu433Asp Single submitter ⚠
- p.Glu46Gln Single submitter ⚠
- p.Glu51Asp Single submitter ⚠
- p.Glu524Lys Single submitter ⚠
- p.Glu56Lys Single submitter ⚠
- p.Glu66Lys Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Glu89Asp Single submitter ⚠
- p.Gly182Arg Single submitter ⚠
- p.Gly212Asp Single submitter ⚠
- p.Gly27Glu Single submitter ⚠
- p.Gly293Asp Single submitter ⚠
- p.Gly359Arg Single submitter ⚠
- p.Gly500Cys Single submitter ⚠
- p.Gly500Val Single submitter ⚠
- p.Gly516Arg Single submitter ⚠
- p.Gly516Val Single submitter ⚠
- p.Gly527Glu Single submitter ⚠
- p.Gly544Ser Single submitter ⚠
- p.Ile392Thr Single submitter ⚠
- p.Leu614Val Single submitter ⚠
- p.Lys145Arg Single submitter ⚠
- p.Met140Ile Single submitter ⚠
- p.Met140Leu Single submitter ⚠
- p.Met4Leu Single submitter ⚠
- p.Met511Ile Single submitter ⚠
- p.Pro410Ala Single submitter ⚠
- p.Pro569Leu Single submitter ⚠
- p.Pro593Leu Single submitter ⚠
- p.Ser175Arg Single submitter ⚠
- p.Ser403Cys Single submitter ⚠
- p.Ser428Ile Single submitter ⚠
- p.Ser609Leu Single submitter
- p.Ser618Asn Single submitter ⚠
- p.Thr241Ser Single submitter ⚠
- p.Thr599Ala Single submitter ⚠
- p.Tyr292His Single submitter ⚠
- p.Tyr346Ter Single submitter
- p.Tyr347Cys Single submitter ⚠
- p.Tyr382Asp Single submitter ⚠
- p.Val127Met Single submitter ⚠
- p.Val159Ile Single submitter ⚠
- p.Val216Ile Single submitter ⚠
- p.Val404Gly Single submitter ⚠
- p.Val526Met Single submitter ⚠
- p.Val590Leu Single submitter ⚠
- p.Val88Ala Single submitter
- p.Arg477Cys No assertion criteria KLC2-related disorder ⚠
- p.Arg555His No assertion criteria ⚠