KLC3 — 137 ClinVar variants

All ClinVar germline KLC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

1 Conflicting · 6 Likely benign · 130 Uncertain significance

Full KLC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 122

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.

KLC3 p.Ala496Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 93

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 28

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

All KLC3 variants

Conflicting classifications of pathogenicity 1

p.Ala496Thr Single submitter ⚠

Likely benign 6

c.*100C>T Multiple submitters xeroderma pigmentosum group D
p.Ala422Thr Single submitter
p.Ala454= Single submitter
p.Asn471= Single submitter
p.Leu446= Single submitter
p.Pro491= Single submitter

Uncertain significance 130

p.Arg354Trp Multiple submitters ⚠
p.Ala132Thr Single submitter ⚠
p.Ala191Thr Single submitter ⚠
p.Ala256Val Single submitter ⚠
p.Ala289Val Single submitter ⚠
p.Ala291Val Single submitter ⚠
p.Ala310Val Single submitter ⚠
p.Ala317Thr Single submitter ⚠
p.Ala36Thr Single submitter ⚠
p.Ala36Val Single submitter ⚠
p.Ala394Val Single submitter ⚠
p.Ala454Val Single submitter ⚠
p.Ala455Val Single submitter ⚠
p.Ala49Val Single submitter ⚠
p.Ala53Thr Single submitter ⚠
p.Ala53Val Single submitter ⚠
p.Ala59Val Single submitter ⚠
p.Ala6Val Single submitter ⚠
p.Ala85Val Single submitter ⚠
p.Arg106Cys Single submitter ⚠
p.Arg110Gln Single submitter ⚠
p.Arg111Gly Single submitter
p.Arg111Trp Single submitter ⚠
p.Arg120Trp Single submitter ⚠
p.Arg129Trp Single submitter ⚠
p.Arg131Trp Single submitter ⚠
p.Arg170Cys Single submitter ⚠
p.Arg170His Single submitter ⚠
p.Arg171Gln Single submitter ⚠
p.Arg208Gln Single submitter ⚠
p.Arg208Trp Single submitter ⚠
p.Arg222His Single submitter ⚠
p.Arg231Cys Single submitter ⚠
p.Arg239His Single submitter ⚠
p.Arg25Pro Single submitter
p.Arg260Trp Single submitter ⚠
p.Arg28Gln Single submitter ⚠
p.Arg28Trp Single submitter ⚠
p.Arg304Cys Single submitter ⚠
p.Arg304His Single submitter ⚠
p.Arg308Trp Single submitter ⚠
p.Arg316Cys Single submitter ⚠
p.Arg321Gln Single submitter ⚠
p.Arg358Gln Single submitter ⚠
p.Arg358Trp Single submitter ⚠
p.Arg38Gln Single submitter ⚠
p.Arg427Cys Single submitter ⚠
p.Arg427His Single submitter ⚠
p.Arg427Leu Single submitter ⚠
p.Arg428Ser Single submitter
p.Arg436Cys Single submitter ⚠
p.Arg436His Single submitter
p.Arg449Gln Single submitter ⚠
p.Arg451Gln Single submitter ⚠
p.Arg451Pro Single submitter
p.Arg492Gln Single submitter ⚠
p.Arg492Leu Single submitter ⚠
p.Asn373Lys Single submitter ⚠
p.Asn373Ser Single submitter ⚠
p.Asn389Ser Single submitter ⚠
p.Asp157Ala Single submitter ⚠
p.Asp157Tyr Single submitter ⚠
p.Asp488Glu Single submitter ⚠
p.Gln388His Single submitter ⚠
p.Glu134Lys Single submitter ⚠
p.Glu143Asp Single submitter ⚠
p.Glu143Lys Single submitter ⚠
p.Glu148Gln Single submitter ⚠
p.Glu224Lys Single submitter ⚠
p.Glu267Ala Single submitter ⚠
p.Glu364Lys Single submitter ⚠
p.Glu423Asp Single submitter ⚠
p.Glu437Asp Single submitter ⚠
p.Glu79Lys Single submitter
p.Glu84Lys Single submitter ⚠
p.Gly14Ser Single submitter ⚠
p.Gly242Ser Single submitter ⚠
p.Gly305Arg Single submitter ⚠
p.Gly368Arg Single submitter ⚠
p.Gly457Glu Single submitter ⚠
p.Gly460Arg Single submitter ⚠
p.Gly60Ser Single submitter ⚠
p.His273Tyr Single submitter ⚠
p.His287Arg Single submitter ⚠
p.His355Gln Single submitter
p.His504Tyr Single submitter ⚠
p.Ile215Asn Single submitter ⚠
p.Ile278Thr Single submitter ⚠
p.Ile435Val Single submitter ⚠
p.Ile78Thr Single submitter ⚠
p.Leu123Pro Single submitter ⚠
p.Leu13Pro Single submitter ⚠
p.Leu213Phe Single submitter ⚠
p.Leu272Pro Single submitter ⚠
p.Leu366Arg Single submitter ⚠
p.Leu487Met Single submitter ⚠
p.Leu64Pro Single submitter ⚠
p.Leu89Pro Single submitter ⚠
p.Lys102Thr Single submitter ⚠
p.Lys144Asn Single submitter ⚠
p.Lys303Arg Single submitter ⚠
p.Lys348Arg Single submitter ⚠
p.Met251Ile Single submitter ⚠
p.Met465Leu Single submitter ⚠
p.Met465Thr Single submitter ⚠
p.Phe349Ile Single submitter ⚠
p.Pro159Leu Single submitter ⚠
p.Pro330Leu Single submitter ⚠
p.Pro475Leu Single submitter ⚠
p.Pro57Leu Single submitter ⚠
p.Ser162Arg Single submitter ⚠
p.Ser176Phe Single submitter ⚠
p.Ser180Arg Single submitter ⚠
p.Ser383Ala Single submitter ⚠
p.Ser433Phe Single submitter
p.Thr269Arg Single submitter ⚠
p.Thr27Met Single submitter ⚠
p.Thr282Met Single submitter ⚠
p.Thr293Met Single submitter ⚠
p.Tyr156His Single submitter
p.Tyr301His Single submitter ⚠
p.Tyr301Ser Single submitter ⚠
p.Tyr356Cys Single submitter ⚠
p.Val137Leu Single submitter ⚠
p.Val214Met Single submitter ⚠
p.Val248Ala Single submitter ⚠
p.Val352Met Single submitter ⚠
p.Val472Met Single submitter ⚠
p.Val71Met Single submitter ⚠
p.Val87Met Single submitter ⚠