HNRNPC — 36 ClinVar variants
All ClinVar germline HNRNPC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
3 Pathogenic · 1 Conflicting · 2 Likely benign · 30 Uncertain significance
Full HNRNPC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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.
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HNRNPC p.Ser209Asn
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HNRNPC c.317+18C>T Uncertain significance Single submitter
-
HNRNPC c.317+36T>C
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Ala212Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Arg262Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Asn22Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- HNRNPC p.Asp292Glu Uncertain significance Single submitter
-
HNRNPC p.Gly242Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Gly243Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Ile183Val
Uncertain significance
Single submitter
Inborn genetic diseases
- HNRNPC p.Lys216Met Uncertain significance Single submitter
- HNRNPC p.Lys271Arg Uncertain significance Single submitter
-
HNRNPC p.Ser227Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Ser31Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- HNRNPC p.Thr25Ser Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- HNRNPC p.Arg145Cys Uncertain significance Single submitter
-
HNRNPC p.Arg145His
Uncertain significance
Single submitter
Inborn genetic diseases
- HNRNPC p.Arg155Ser Uncertain significance Single submitter
- HNRNPC p.Arg99Gln Pathogenic Single submitter
- HNRNPC p.Asn7Ser Uncertain significance Single submitter
-
HNRNPC p.Asp179Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- HNRNPC p.Leu180Phe Uncertain significance Single submitter
-
HNRNPC p.Pro134Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Ser38Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Tyr113His
Uncertain significance
Single submitter
intellectual developmental disorder, autosomal dominant 74
-
HNRNPC p.Tyr120His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Val141Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HNRNPC p.Lys98Asn
Uncertain significance
No assertion criteria
HNRNPC-related condition
All HNRNPC variants
Pathogenic 3
- p.Arg284_Asp292del Single submitter intellectual developmental disorder, autosomal dominant 74
- p.Arg99Gln Single submitter ⚠
- p.Asp252fs No assertion criteria intellectual developmental disorder, autosomal dominant 74
Conflicting classifications of pathogenicity 1
- p.Ser209Asn Single submitter Inborn genetic diseases ⚠
Likely benign 2
- p.Ala182Thr Single submitter Inborn genetic diseases
- p.Pro135_Ile136insPro Single submitter
Uncertain significance 30
- c.317+18C>T Single submitter ⚠
- c.317+36T>C Single submitter Inborn genetic diseases ⚠
- c.318-16G>A Single submitter intellectual developmental disorder, autosomal dominant 74
- c.*736del Single submitter
- p.Ala212Thr Single submitter Inborn genetic diseases ⚠
- p.Arg145Cys Single submitter ⚠
- p.Arg145His Single submitter Inborn genetic diseases ⚠
- p.Arg155Ser Single submitter ⚠
- p.Arg262Pro Single submitter Inborn genetic diseases ⚠
- p.Asn200_Glu202del Single submitter
- p.Asn22Ser Single submitter Inborn genetic diseases ⚠
- p.Asn7Ser Single submitter ⚠
- p.Asp179Asn Single submitter Inborn genetic diseases ⚠
- p.Asp292Glu Single submitter ⚠
- p.Gly242Arg Single submitter Inborn genetic diseases ⚠
- p.Gly243Ala Single submitter Inborn genetic diseases ⚠
- p.Gly243fs Single submitter
- p.Ile183Val Single submitter Inborn genetic diseases ⚠
- p.Leu180Phe Single submitter ⚠
- p.Lys216Met Single submitter ⚠
- p.Lys271Arg Single submitter ⚠
- p.Pro134Leu Single submitter Inborn genetic diseases ⚠
- p.Ser227Ile Single submitter Inborn genetic diseases ⚠
- p.Ser31Thr Single submitter Inborn genetic diseases ⚠
- p.Ser38Leu Single submitter Inborn genetic diseases ⚠
- p.Thr25Ser Single submitter ⚠
- p.Tyr113His Single submitter intellectual developmental disorder, autosomal dominant 74 ⚠
- p.Tyr120His Single submitter Inborn genetic diseases ⚠
- p.Val141Leu Single submitter Inborn genetic diseases ⚠
- p.Lys98Asn No assertion criteria HNRNPC-related condition ⚠