KPNA3 — 63 ClinVar variants
All ClinVar germline KPNA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 2 Benign · 4 Likely benign · 51 Uncertain significance
Full KPNA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 lean, ClinVar uncertain 38
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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KPNA3 p.Gly309Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KPNA3 p.Gly434Asp
Uncertain significance
Multiple submitters
spastic paraplegia 88, autosomal dominant
-
KPNA3 p.Ala135Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KPNA3 p.Ala2Thr Uncertain significance Single submitter
- KPNA3 p.Ala446Thr Uncertain significance Single submitter
-
KPNA3 p.Ala75Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Arg37Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Asn128His
Uncertain significance
Single submitter
Inborn genetic diseases
- KPNA3 p.Asn343Thr Uncertain significance Single submitter
-
KPNA3 p.Asn513Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Asn520Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Asn70Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Asp232Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Asp488Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Gln155His
Uncertain significance
Single submitter
spastic paraplegia 88, autosomal dominant
-
KPNA3 p.Gln502Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Gln53His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Gln78Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Glu23Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Glu317Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Ile224Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Ile453Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Ile473Thr
Uncertain significance
Single submitter
spastic paraplegia 88, autosomal dominant
-
KPNA3 p.Leu123Arg
Uncertain significance
Single submitter
spastic paraplegia 88, autosomal dominant
- KPNA3 p.Leu73Val Uncertain significance Single submitter
-
KPNA3 p.Lys202Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Lys461Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Met237Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KPNA3 p.Met237Val Uncertain significance Single submitter
-
KPNA3 p.Met372Ile
Uncertain significance
Single submitter
spastic paraplegia 88, autosomal dominant
-
KPNA3 p.Pro235Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Ser336Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Ser6Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Thr239Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Thr262Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Val290Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Val308Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KPNA3 p.Val361Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
-
KPNA3 p.Asp21His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Asp316Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KPNA3 p.Gln278Glu Uncertain significance Single submitter
-
KPNA3 p.Leu377Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Ser147Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Val178Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KPNA3 p.Val422Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All KPNA3 variants
Pathogenic 4
- p.Leu350Pro Single submitter spastic paraplegia 88, autosomal dominant
- p.Leu328Pro No assertion criteria spastic paraplegia 88, autosomal dominant
- p.Leu334Arg No assertion criteria spastic paraplegia 88, autosomal dominant
- p.Leu407Arg No assertion criteria spastic paraplegia 88, autosomal dominant
Likely pathogenic 2
- p.Asn219Ser Single submitter
- p.Thr315Ile Single submitter spastic paraplegia 88, autosomal dominant
Benign 2
- p.Lys121Arg Single submitter
- c.70-9C>G No assertion criteria KPNA3-related condition
Likely benign 4
- c.727-20T>C Single submitter
- p.Arg167His Single submitter Inborn genetic diseases
- p.Ser209Asn Single submitter Inborn genetic diseases
- p.Thr315= Single submitter
Uncertain significance 51
- p.Gly309Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly434Asp Multiple submitters spastic paraplegia 88, autosomal dominant ⚠
- c.469+1G>A Single submitter
- p.Ala135Asp Single submitter Inborn genetic diseases ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala446Thr Single submitter ⚠
- p.Ala75Gly Single submitter Inborn genetic diseases ⚠
- p.Arg37Trp Single submitter Inborn genetic diseases ⚠
- p.Asn128His Single submitter Inborn genetic diseases ⚠
- p.Asn343Thr Single submitter ⚠
- p.Asn357fs Single submitter
- p.Asn513Lys Single submitter Inborn genetic diseases ⚠
- p.Asn520Ser Single submitter Inborn genetic diseases ⚠
- p.Asn70Ser Single submitter Inborn genetic diseases ⚠
- p.Asp21His Single submitter Inborn genetic diseases ⚠
- p.Asp232Glu Single submitter Inborn genetic diseases ⚠
- p.Asp316Asn Single submitter Inborn genetic diseases ⚠
- p.Asp488Ala Single submitter Inborn genetic diseases ⚠
- p.Asp491fs Single submitter
- p.Asp61fs Single submitter
- p.Gln155His Single submitter spastic paraplegia 88, autosomal dominant ⚠
- p.Gln278Glu Single submitter ⚠
- p.Gln502Arg Single submitter Inborn genetic diseases ⚠
- p.Gln53His Single submitter Inborn genetic diseases ⚠
- p.Gln78Arg Single submitter Inborn genetic diseases ⚠
- p.Glu23Ala Single submitter Inborn genetic diseases ⚠
- p.Glu317Gln Single submitter Inborn genetic diseases ⚠
- p.Ile212fs Single submitter
- p.Ile224Val Single submitter Inborn genetic diseases ⚠
- p.Ile453Val Single submitter Inborn genetic diseases ⚠
- p.Ile473Thr Single submitter spastic paraplegia 88, autosomal dominant ⚠
- p.Leu123Arg Single submitter spastic paraplegia 88, autosomal dominant ⚠
- p.Leu377Val Single submitter Inborn genetic diseases ⚠
- p.Leu73Val Single submitter ⚠
- p.Lys202Arg Single submitter Inborn genetic diseases ⚠
- p.Lys461Asn Single submitter Inborn genetic diseases ⚠
- p.Met237Leu Single submitter Inborn genetic diseases ⚠
- p.Met237Val Single submitter ⚠
- p.Met372Ile Single submitter spastic paraplegia 88, autosomal dominant ⚠
- p.Pro235Leu Single submitter Inborn genetic diseases ⚠
- p.Pro236fs Single submitter
- p.Ser147Phe Single submitter Inborn genetic diseases ⚠
- p.Ser336Thr Single submitter Inborn genetic diseases ⚠
- p.Ser6Thr Single submitter Inborn genetic diseases ⚠
- p.Thr239Ile Single submitter Inborn genetic diseases ⚠
- p.Thr262Ser Single submitter Inborn genetic diseases ⚠
- p.Val178Leu Single submitter Inborn genetic diseases ⚠
- p.Val290Leu Single submitter Inborn genetic diseases ⚠
- p.Val308Ala Single submitter Inborn genetic diseases ⚠
- p.Val361Ile Single submitter ⚠
- p.Val422Leu Single submitter Inborn genetic diseases ⚠