PHF13 — 41 ClinVar variants
All ClinVar germline PHF13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Benign · 3 Likely benign · 36 Uncertain significance
Full PHF13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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.
- PHF13 p.Ala78Thr Uncertain significance Single submitter
- PHF13 p.Arg88Cys Uncertain significance Single submitter
- PHF13 p.Asn250Ser Uncertain significance Single submitter
- PHF13 p.Gly131Ala Uncertain significance Single submitter
- PHF13 p.Gly134Arg Uncertain significance Single submitter
- PHF13 p.Gly137Arg Uncertain significance Single submitter
- PHF13 p.Gly138Asp Uncertain significance Single submitter
- PHF13 p.Gly170Val Uncertain significance Single submitter
- PHF13 p.Gly179Val Uncertain significance Single submitter
- PHF13 p.Gly69Ser Uncertain significance Single submitter
- PHF13 p.Ile256Val Uncertain significance Single submitter
- PHF13 p.Ile77Val Uncertain significance Single submitter
- PHF13 p.Leu51Ser Uncertain significance Single submitter
- PHF13 p.Leu97Val Uncertain significance Single submitter
- PHF13 p.Pro12Ala Uncertain significance Single submitter
- PHF13 p.Pro12Arg Uncertain significance Single submitter
- PHF13 p.Pro147Leu Uncertain significance Single submitter
- PHF13 p.Pro155Arg Uncertain significance Single submitter
- PHF13 p.Pro82Arg Uncertain significance Single submitter
- PHF13 p.Pro95Ser Uncertain significance Single submitter
- PHF13 p.Ser127Gly Uncertain significance Single submitter
- PHF13 p.Ser180Phe Uncertain significance Single submitter
- PHF13 p.Ser214Gly Uncertain significance Single submitter
- PHF13 p.Ser91Asn Uncertain significance Single submitter
- PHF13 p.Thr153Met Uncertain significance Single submitter
- PHF13 p.Thr194Ile Uncertain significance Single submitter
- PHF13 p.Val184Gly Uncertain significance Single submitter
- PHF13 p.Val189Ile Uncertain significance Single submitter
- PHF13 p.Val201Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PHF13 p.Asn29Lys Uncertain significance Single submitter
- PHF13 p.Glu47Lys Uncertain significance Single submitter
- PHF13 p.Ile200Thr Uncertain significance Single submitter
- PHF13 p.Met222Leu Uncertain significance Single submitter
- PHF13 p.Met222Thr Uncertain significance Single submitter
- PHF13 p.Thr215Ile Uncertain significance Single submitter
- PHF13 p.Val25Leu Uncertain significance Single submitter
All PHF13 variants
Benign 2
- c.141+10T>C Multiple submitters
- p.Ser177= Multiple submitters
Likely benign 3
- p.Ala129Val Single submitter
- p.Ala145Thr Single submitter
- p.Thr292Met Single submitter
Uncertain significance 36
- p.Ala78Thr Single submitter ⚠
- p.Arg88Cys Single submitter ⚠
- p.Asn250Ser Single submitter ⚠
- p.Asn29Lys Single submitter ⚠
- p.Glu47Lys Single submitter ⚠
- p.Gly131Ala Single submitter ⚠
- p.Gly134Arg Single submitter ⚠
- p.Gly137Arg Single submitter ⚠
- p.Gly138Asp Single submitter ⚠
- p.Gly170Val Single submitter ⚠
- p.Gly179Val Single submitter ⚠
- p.Gly69Ser Single submitter ⚠
- p.Ile200Thr Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Ile77Val Single submitter ⚠
- p.Leu51Ser Single submitter ⚠
- p.Leu97Val Single submitter ⚠
- p.Met222Leu Single submitter ⚠
- p.Met222Thr Single submitter ⚠
- p.Pro12Ala Single submitter ⚠
- p.Pro12Arg Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro155Arg Single submitter ⚠
- p.Pro82Arg Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser127Gly Single submitter ⚠
- p.Ser180Phe Single submitter ⚠
- p.Ser214Gly Single submitter ⚠
- p.Ser91Asn Single submitter ⚠
- p.Thr153Met Single submitter ⚠
- p.Thr194Ile Single submitter ⚠
- p.Thr215Ile Single submitter ⚠
- p.Val184Gly Single submitter ⚠
- p.Val189Ile Single submitter ⚠
- p.Val201Ile Single submitter ⚠
- p.Val25Leu Single submitter ⚠