P4HA1 — 66 ClinVar variants
All ClinVar germline P4HA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
2 Likely pathogenic · 3 Benign · 8 Likely benign · 53 Uncertain significance
Full P4HA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- P4HA1 p.Ala347Thr Uncertain significance Single submitter
- P4HA1 p.Ala412Thr Uncertain significance Single submitter
- P4HA1 p.Ala418Thr Uncertain significance Single submitter
- P4HA1 p.Arg136His Uncertain significance Single submitter
- P4HA1 p.Arg336His Uncertain significance Single submitter
- P4HA1 p.Asn113Lys Uncertain significance Single submitter
- P4HA1 p.Asn123Asp Uncertain significance Single submitter
- P4HA1 p.Asn152Asp Uncertain significance Single submitter
- P4HA1 p.Asp124Glu Uncertain significance Single submitter
- P4HA1 p.Asp139Val Uncertain significance Single submitter
- P4HA1 p.Asp459Asn Uncertain significance Single submitter
- P4HA1 p.Cys310Arg Uncertain significance Single submitter
- P4HA1 p.Glu198Lys Uncertain significance Single submitter
- P4HA1 p.Glu290Lys Uncertain significance Single submitter
- P4HA1 p.Glu54Gly Uncertain significance Single submitter
- P4HA1 p.Ile111Leu Uncertain significance Single submitter
- P4HA1 p.Ile111Val Uncertain significance Single submitter
- P4HA1 p.Ile2Phe Uncertain significance Single submitter
- P4HA1 p.Ile322Leu Uncertain significance Single submitter
- P4HA1 p.Ile369Val Uncertain significance Single submitter
- P4HA1 p.Leu194Pro Uncertain significance Single submitter
- P4HA1 p.Leu66Val Uncertain significance Single submitter
- P4HA1 p.Lys275Glu Uncertain significance Single submitter
- P4HA1 p.Lys334Gln Uncertain significance Single submitter
- P4HA1 p.Phe22Tyr Uncertain significance Single submitter
- P4HA1 p.Pro19Ala Uncertain significance Single submitter
- P4HA1 p.Pro477Ser Uncertain significance Single submitter
- P4HA1 p.Ser212Asn Uncertain significance Single submitter
- P4HA1 p.Ser261Thr Uncertain significance Single submitter
- P4HA1 p.Ser458Thr Uncertain significance Single submitter
- P4HA1 p.Ser96Asn Uncertain significance Single submitter
- P4HA1 p.Thr370Ile Uncertain significance Single submitter
- P4HA1 p.Thr466Ala Uncertain significance Single submitter
- P4HA1 p.Tyr282Ser Uncertain significance Single submitter
- P4HA1 p.Tyr389Cys Uncertain significance Single submitter
- P4HA1 p.Tyr389His Uncertain significance Single submitter
- P4HA1 p.Val156Ala Uncertain significance Single submitter
- P4HA1 p.Val78Ile Uncertain significance Single submitter
-
P4HA1 p.Lys223Arg
Uncertain significance
No assertion criteria
P4HA1-related disorder
Predictors split 9
The independent predictors disagree with each other — read with care.
-
P4HA1 p.Pro236Thr
Uncertain significance
Multiple submitters
P4HA1-related disorder
- P4HA1 p.Arg317Cys Uncertain significance Single submitter
- P4HA1 p.Arg336Cys Uncertain significance Single submitter
- P4HA1 p.Asn367Ser Uncertain significance Single submitter
- P4HA1 p.Asp139Asn Uncertain significance Single submitter
- P4HA1 p.Glu188Val Uncertain significance Single submitter
- P4HA1 p.Glu437Asp Uncertain significance Single submitter
- P4HA1 p.Thr163Ala Uncertain significance Single submitter
- P4HA1 p.Val393Leu Uncertain significance Single submitter
All P4HA1 variants
Likely pathogenic 2
- c.1148+1030C>T Single submitter Congenital disorder of connective tissue
- p.Arg362Ter Single submitter P4HA1-related disorder
Benign 3
- c.1368+7C>T Multiple submitters
- p.His313Tyr No assertion criteria P4HA1-related disorder
- p.Leu208= No assertion criteria P4HA1-related disorder
Likely benign 8
- c.1148+1062A>G No assertion criteria P4HA1-related disorder
- p.Ala241= No assertion criteria P4HA1-related disorder
- p.Glu165= No assertion criteria P4HA1-related disorder
- p.Gly424= No assertion criteria P4HA1-related disorder
- p.Ile351= No assertion criteria P4HA1-related disorder
- p.Lys510= No assertion criteria P4HA1-related disorder
- p.Thr375Met No assertion criteria P4HA1-related disorder
- p.Val505= No assertion criteria P4HA1-related disorder
Uncertain significance 53
- p.Pro236Thr Multiple submitters P4HA1-related disorder ⚠
- p.Ala347Thr Single submitter ⚠
- p.Ala412Thr Single submitter ⚠
- p.Ala418Thr Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg317Cys Single submitter ⚠
- p.Arg336Cys Single submitter ⚠
- p.Arg336His Single submitter ⚠
- p.Asn113Lys Single submitter ⚠
- p.Asn123Asp Single submitter ⚠
- p.Asn152Asp Single submitter ⚠
- p.Asn367Ser Single submitter ⚠
- p.Asp124Glu Single submitter ⚠
- p.Asp139Asn Single submitter ⚠
- p.Asp139Val Single submitter ⚠
- p.Asp459Asn Single submitter ⚠
- p.Cys310Arg Single submitter ⚠
- p.Glu188Val Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Glu290Lys Single submitter ⚠
- p.Glu437Asp Single submitter ⚠
- p.Glu54Gly Single submitter ⚠
- p.Gly297Asp Single submitter
- p.His158fs Single submitter
- p.Ile111Leu Single submitter ⚠
- p.Ile111Val Single submitter ⚠
- p.Ile2Phe Single submitter ⚠
- p.Ile322Leu Single submitter ⚠
- p.Ile369Val Single submitter ⚠
- p.Leu194Pro Single submitter ⚠
- p.Leu66Val Single submitter ⚠
- p.Lys275Glu Single submitter ⚠
- p.Lys334Gln Single submitter ⚠
- p.Phe22Tyr Single submitter ⚠
- p.Pro19Ala Single submitter ⚠
- p.Pro477Ser Single submitter ⚠
- p.Ser212Asn Single submitter ⚠
- p.Ser261Thr Single submitter ⚠
- p.Ser458Thr Single submitter ⚠
- p.Ser96Asn Single submitter ⚠
- p.Thr163Ala Single submitter ⚠
- p.Thr183Met Single submitter
- p.Thr370Ile Single submitter ⚠
- p.Thr466Ala Single submitter ⚠
- p.Tyr282Ser Single submitter ⚠
- p.Tyr389Cys Single submitter ⚠
- p.Tyr389His Single submitter ⚠
- p.Val156Ala Single submitter ⚠
- p.Val393Leu Single submitter ⚠
- p.Val78Ile Single submitter ⚠
- c.1302+2T>G No assertion criteria
- p.Lys223Arg No assertion criteria P4HA1-related disorder ⚠
- p.Lys442Argfs No assertion criteria