HNRNPL — 61 ClinVar variants
All ClinVar germline HNRNPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
5 Benign · 1 Likely benign · 55 Uncertain significance
Full HNRNPL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HNRNPL p.Ala31Thr Uncertain significance Single submitter
- HNRNPL p.Ala36Pro Uncertain significance Single submitter
- HNRNPL p.Ala379Ser Uncertain significance Single submitter
- HNRNPL p.Ala588Thr Uncertain significance Single submitter
- HNRNPL p.Ala82Ser Uncertain significance Single submitter
- HNRNPL p.Ala9Val Uncertain significance Single submitter
- HNRNPL p.Arg13His Uncertain significance Single submitter
- HNRNPL p.Arg272His Uncertain significance Single submitter
- HNRNPL p.Arg27Gly Uncertain significance Single submitter
- HNRNPL p.Arg28Pro Uncertain significance Single submitter
- HNRNPL p.Asn289Ser Uncertain significance Single submitter
- HNRNPL p.Asn401Asp Uncertain significance Single submitter
- HNRNPL p.Asn483Ser Uncertain significance Single submitter
- HNRNPL p.Asn65Asp Uncertain significance Single submitter
- HNRNPL p.Asp23Asn Uncertain significance Single submitter
- HNRNPL p.Asp23Gly Uncertain significance Single submitter
- HNRNPL p.Asp23Tyr Uncertain significance Single submitter
- HNRNPL p.Asp428Gly Uncertain significance Single submitter
- HNRNPL p.Asp522Asn Uncertain significance Single submitter
- HNRNPL p.Gln18Arg Uncertain significance Single submitter
- HNRNPL p.Gln20Glu Uncertain significance Single submitter
- HNRNPL p.Gln21Arg Uncertain significance Single submitter
- HNRNPL p.Glu550Ala Uncertain significance Single submitter
- HNRNPL p.Gly297Ser Uncertain significance Single submitter
- HNRNPL p.Gly322Ser Uncertain significance Single submitter
- HNRNPL p.His329Arg Uncertain significance Single submitter
- HNRNPL p.His339Gln Uncertain significance Single submitter
- HNRNPL p.His365Leu Uncertain significance Single submitter
- HNRNPL p.Ile164Val Uncertain significance Single submitter
- HNRNPL p.Ile203Val Uncertain significance Single submitter
- HNRNPL p.Leu5Gln Uncertain significance Single submitter
- HNRNPL p.Met134Val Uncertain significance Single submitter
- HNRNPL p.Met460Ile Uncertain significance Single submitter
- HNRNPL p.Met567Leu Uncertain significance Single submitter
- HNRNPL p.Phe518Ser Uncertain significance Single submitter
- HNRNPL p.Pro22Thr Uncertain significance Single submitter
- HNRNPL p.Pro337Arg Uncertain significance Single submitter
- HNRNPL p.Pro58Ser Uncertain significance Single submitter
- HNRNPL p.Pro58Thr Uncertain significance Single submitter
- HNRNPL p.Pro7Ser Uncertain significance Single submitter
- HNRNPL p.Ser381Gly Uncertain significance Single submitter
- HNRNPL p.Thr63Ser Uncertain significance Single submitter
- HNRNPL p.Val512Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- HNRNPL p.Ala157Thr Uncertain significance Single submitter
- HNRNPL p.Arg353Cys Uncertain significance Single submitter
- HNRNPL p.Gln566Glu Uncertain significance Single submitter
- HNRNPL p.Phe561Ser Uncertain significance Single submitter
- HNRNPL p.Pro488Gln Uncertain significance Single submitter
- HNRNPL p.Ser180Cys Uncertain significance Single submitter
- HNRNPL p.Ser589Phe Uncertain significance Single submitter
- HNRNPL p.Thr208Met Uncertain significance Single submitter
- HNRNPL p.Thr63Ile Uncertain significance Single submitter
All HNRNPL variants
Benign 5
- c.1355+17G>A Multiple submitters
- c.710+10G>C Single submitter
- p.Arg15= Single submitter
- p.Arg28= Single submitter
- p.Gly183= Single submitter
Likely benign 1
- p.Cys472= Single submitter
Uncertain significance 55
- c.881-1096C>T Single submitter neuromuscular disease
- p.Ala157Thr Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala36Pro Single submitter ⚠
- p.Ala379Ser Single submitter ⚠
- p.Ala57Thr Single submitter
- p.Ala588Thr Single submitter ⚠
- p.Ala82Ser Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg13His Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg27Gly Single submitter ⚠
- p.Arg28Pro Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Asn289Ser Single submitter ⚠
- p.Asn401Asp Single submitter ⚠
- p.Asn483Ser Single submitter ⚠
- p.Asn65Asp Single submitter ⚠
- p.Asp23Asn Single submitter ⚠
- p.Asp23Gly Single submitter ⚠
- p.Asp23Tyr Single submitter ⚠
- p.Asp428Gly Single submitter ⚠
- p.Asp522Asn Single submitter ⚠
- p.Gln18Arg Single submitter ⚠
- p.Gln20Glu Single submitter ⚠
- p.Gln21Arg Single submitter ⚠
- p.Gln566Glu Single submitter ⚠
- p.Glu550Ala Single submitter ⚠
- p.Gly297Ser Single submitter ⚠
- p.Gly30fs Single submitter
- p.Gly322Ser Single submitter ⚠
- p.His329Arg Single submitter ⚠
- p.His339Gln Single submitter ⚠
- p.His365Leu Single submitter ⚠
- p.Ile164Val Single submitter ⚠
- p.Ile203Val Single submitter ⚠
- p.Leu5Gln Single submitter ⚠
- p.Met134Val Single submitter ⚠
- p.Met460Ile Single submitter ⚠
- p.Met567Leu Single submitter ⚠
- p.Phe518Ser Single submitter ⚠
- p.Phe561Ser Single submitter ⚠
- p.Pro22Thr Single submitter ⚠
- p.Pro337Arg Single submitter ⚠
- p.Pro488Gln Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Pro58Thr Single submitter ⚠
- p.Pro7Ser Single submitter ⚠
- p.Ser180Cys Single submitter ⚠
- p.Ser381Gly Single submitter ⚠
- p.Ser589Phe Single submitter ⚠
- p.Thr208Met Single submitter ⚠
- p.Thr63Ile Single submitter ⚠
- p.Thr63Ser Single submitter ⚠
- p.Val512Ala Single submitter ⚠