HNRNPD — 54 ClinVar variants
All ClinVar germline HNRNPD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 7 Benign · 5 Likely benign · 38 Uncertain significance
Full HNRNPD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HNRNPD p.Ala12Val Uncertain significance Single submitter
- HNRNPD p.Ala14Val Uncertain significance Single submitter
- HNRNPD p.Ala45Pro Uncertain significance Single submitter
- HNRNPD p.Ala61Val Uncertain significance Single submitter
- HNRNPD p.Arg94Gln Uncertain significance Single submitter
- HNRNPD p.Asn217Ser Uncertain significance Single submitter
- HNRNPD p.Asn220Ser Uncertain significance Single submitter
- HNRNPD p.Asn246Ser Uncertain significance Single submitter
- HNRNPD p.Asp9Val Uncertain significance Single submitter
- HNRNPD p.Gln310Glu Uncertain significance Single submitter
- HNRNPD p.Gln336His Uncertain significance Single submitter
- HNRNPD p.Gln5His Uncertain significance Single submitter
- HNRNPD p.Glu27Lys Uncertain significance Single submitter
- HNRNPD p.Gly204Ser Uncertain significance Single submitter
-
HNRNPD p.Gly274Ala
Uncertain significance
Single submitter
neurodevelopmental disorder
- HNRNPD p.Gly283Ala Uncertain significance Single submitter
- HNRNPD p.Gly36Ala Uncertain significance Single submitter
- HNRNPD p.Gly49Asp Uncertain significance Single submitter
- HNRNPD p.Gly78Ser Uncertain significance Single submitter
- HNRNPD p.Ile184Ser Uncertain significance Single submitter
- HNRNPD p.Lys231Glu Uncertain significance Single submitter
- HNRNPD p.Pro180Leu Uncertain significance Single submitter
- HNRNPD p.Pro235Ser Uncertain significance Single submitter
- HNRNPD p.Ser148Leu Uncertain significance Single submitter
- HNRNPD p.Ser63Ala Uncertain significance Single submitter
- HNRNPD p.Ser71Thr Uncertain significance Single submitter
- HNRNPD p.Thr56Ser Uncertain significance Single submitter
- HNRNPD p.Tyr297Cys Uncertain significance Single submitter
- HNRNPD p.Tyr315Asp Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All HNRNPD variants
Pathogenic 1
- p.Gln35fs Multiple submitters HNRNPD-related neurodevelopmental disorder
Likely pathogenic 3
- p.Gln266Ter Single submitter intellectual disability
- p.Gln268Ter Single submitter neurodevelopmental disorder
- p.Ser87fs Single submitter intellectual disability
Benign 7
- c.621+81G>A Multiple submitters
- c.621+90A>G Multiple submitters
- c.622-181A>G Multiple submitters
- c.622-318A>T Multiple submitters
- c.*30+71C>T Multiple submitters
- c.234-296T>A Single submitter
- c.*30+18dup Single submitter
Likely benign 5
- c.1001-15C>G Single submitter
- c.233+7A>G Single submitter
- c.753+19T>C Single submitter
- p.Ala18= No assertion criteria HNRNPD-related disorder
- p.Gln262= No assertion criteria HNRNPD-related disorder
Uncertain significance 38
- p.Ala12Val Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala45Pro Single submitter ⚠
- p.Ala61Val Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Asn217Ser Single submitter ⚠
- p.Asn220His Single submitter
- p.Asn220Ser Single submitter ⚠
- p.Asn246Ser Single submitter ⚠
- p.Asn73Lys Single submitter ⚠
- p.Asp69Ala Single submitter ⚠
- p.Asp9Val Single submitter ⚠
- p.Gln310Glu Single submitter ⚠
- p.Gln336His Single submitter ⚠
- p.Gln5His Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Gly204Ser Single submitter ⚠
- p.Gly274Ala Single submitter neurodevelopmental disorder ⚠
- p.Gly283Ala Single submitter ⚠
- p.Gly36Ala Single submitter ⚠
- p.Gly49Asp Single submitter ⚠
- p.Gly78Ser Single submitter ⚠
- p.Ile184Ser Single submitter ⚠
- p.Lys231Glu Single submitter ⚠
- p.Lys67fs Single submitter
- p.Phe6Leu Single submitter ⚠
- p.Pro180Leu Single submitter ⚠
- p.Pro214fs Single submitter
- p.Pro235Ser Single submitter ⚠
- p.Ser148Leu Single submitter ⚠
- p.Ser63Ala Single submitter ⚠
- p.Ser71Thr Single submitter ⚠
- p.Ser83Phe Single submitter ⚠
- p.Thr56Ser Single submitter ⚠
- p.Tyr297Cys Single submitter ⚠
- p.Tyr315Asp Single submitter ⚠
- p.Tyr327del Single submitter