PHF12 — 101 ClinVar variants
All ClinVar germline PHF12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
3 Benign · 8 Likely benign · 90 Uncertain significance
Full PHF12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PHF12 p.Leu324Met Uncertain significance Multiple submitters
- PHF12 p.Ala152Ser Uncertain significance Single submitter
- PHF12 p.Ala171Val Uncertain significance Single submitter
- PHF12 p.Ala196Thr Uncertain significance Single submitter
- PHF12 p.Ala36Thr Uncertain significance Single submitter
- PHF12 p.Ala395Pro Uncertain significance Single submitter
- PHF12 p.Ala398Ser Uncertain significance Single submitter
- PHF12 p.Ala483Val Uncertain significance Single submitter
- PHF12 p.Ala537Val Uncertain significance Single submitter
- PHF12 p.Ala568Gly Uncertain significance Single submitter
- PHF12 p.Ala607Ser Uncertain significance Single submitter
- PHF12 p.Ala693Ser Uncertain significance Single submitter
- PHF12 p.Arg155Trp Uncertain significance Single submitter
- PHF12 p.Arg366Gln Uncertain significance Single submitter
- PHF12 p.Arg563Gln Uncertain significance Single submitter
- PHF12 p.Arg563Trp Uncertain significance Single submitter
- PHF12 p.Arg578Trp Uncertain significance Single submitter
- PHF12 p.Arg668Gln Uncertain significance Single submitter
- PHF12 p.Arg668Trp Uncertain significance Single submitter
- PHF12 p.Arg688Gln Uncertain significance Single submitter
- PHF12 p.Asn665Asp Uncertain significance Single submitter
- PHF12 p.Asp189Glu Uncertain significance Single submitter
- PHF12 p.Asp678Gly Uncertain significance Single submitter
-
PHF12 p.Asp902Asn
Uncertain significance
Single submitter
PHF12-related disorder
- PHF12 p.Cys525Phe Uncertain significance Single submitter
- PHF12 p.Gln594Glu Uncertain significance Single submitter
- PHF12 p.Gln649His Uncertain significance Single submitter
- PHF12 p.Gln980His Uncertain significance Single submitter
- PHF12 p.Gly599Ser Uncertain significance Single submitter
-
PHF12 p.Gly771Asp
Uncertain significance
Single submitter
complex neurodevelopmental disorder
- PHF12 p.His362Arg Uncertain significance Single submitter
- PHF12 p.His362Gln Uncertain significance Single submitter
- PHF12 p.His512Asn Uncertain significance Single submitter
- PHF12 p.His577Asn Uncertain significance Single submitter
- PHF12 p.Ile319Val Uncertain significance Single submitter
- PHF12 p.Ile394Thr Uncertain significance Single submitter
- PHF12 p.Ile520Val Uncertain significance Single submitter
- PHF12 p.Ile635Met Uncertain significance Single submitter
- PHF12 p.Leu641Phe Uncertain significance Single submitter
- PHF12 p.Lys124Arg Uncertain significance Single submitter
- PHF12 p.Lys361Thr Uncertain significance Single submitter
- PHF12 p.Lys450Arg Uncertain significance Single submitter
- PHF12 p.Lys463Met Uncertain significance Single submitter
- PHF12 p.Lys528Arg Uncertain significance Single submitter
- PHF12 p.Pro199Leu Uncertain significance Single submitter
- PHF12 p.Pro304Leu Uncertain significance Single submitter
- PHF12 p.Pro31His Uncertain significance Single submitter
- PHF12 p.Pro363Ala Uncertain significance Single submitter
- PHF12 p.Pro47Ser Uncertain significance Single submitter
- PHF12 p.Pro533His Uncertain significance Single submitter
- PHF12 p.Pro584Leu Uncertain significance Single submitter
- PHF12 p.Pro610Leu Uncertain significance Single submitter
- PHF12 p.Pro626Thr Uncertain significance Single submitter
- PHF12 p.Pro653Arg Uncertain significance Single submitter
- PHF12 p.Pro653Leu Uncertain significance Single submitter
- PHF12 p.Ser280Arg Uncertain significance Single submitter
- PHF12 p.Ser371Leu Uncertain significance Single submitter
- PHF12 p.Ser475Leu Uncertain significance Single submitter
- PHF12 p.Ser507Arg Uncertain significance Single submitter
- PHF12 p.Ser509Cys Uncertain significance Single submitter
- PHF12 p.Ser695Leu Uncertain significance Single submitter
- PHF12 p.Thr130Ile Uncertain significance Single submitter
- PHF12 p.Thr477Ile Uncertain significance Single submitter
- PHF12 p.Thr532Asn Uncertain significance Single submitter
- PHF12 p.Tyr553Cys Uncertain significance Single submitter
- PHF12 p.Val271Ile Uncertain significance Single submitter
- PHF12 p.Val598Ile Uncertain significance Single submitter
- PHF12 p.Val646Ala Uncertain significance Single submitter
- PHF12 p.Val766Ala Uncertain significance Single submitter
-
PHF12 p.His993Tyr
Uncertain significance
No assertion criteria
PHF12-related disorder
-
PHF12 p.Val195Ile
Uncertain significance
No assertion criteria
PHF12-related disorder
-
PHF12 p.Val773Ile
Uncertain significance
No assertion criteria
PHF12-related disorder
Predictors split 9
The independent predictors disagree with each other — read with care.
- PHF12 p.Arg163Ser Uncertain significance Single submitter
- PHF12 p.Arg220Trp Uncertain significance Single submitter
- PHF12 p.Gly549Asp Uncertain significance Single submitter
- PHF12 p.His446Arg Uncertain significance Single submitter
- PHF12 p.Ile10Thr Uncertain significance Single submitter
- PHF12 p.Leu439Phe Uncertain significance Single submitter
- PHF12 p.Leu444Ser Uncertain significance Single submitter
- PHF12 p.Pro587Leu Uncertain significance Single submitter
- PHF12 p.Ser442Gly Uncertain significance Single submitter
All PHF12 variants
Benign 3
- p.Asn278Asp Single submitter
- p.Pro653= Single submitter
- c.2359+107C>T No assertion criteria PHF12-related disorder
Likely benign 8
- c.1293+16G>A Single submitter
- p.Ala887Gly Single submitter Developmental disorder
- p.Ala968= Single submitter
- p.Arg243= Single submitter
- p.Lys242= Single submitter
- p.Pro396= Single submitter
- p.Pro43= Single submitter
- p.Thr863= Single submitter
Uncertain significance 90
- p.Leu324Met Multiple submitters ⚠
- c.2359+134dup Single submitter
- p.Ala152Ser Single submitter ⚠
- p.Ala171Val Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala36Thr Single submitter ⚠
- p.Ala395Pro Single submitter ⚠
- p.Ala398Ser Single submitter ⚠
- p.Ala483Val Single submitter ⚠
- p.Ala537Val Single submitter ⚠
- p.Ala568Gly Single submitter ⚠
- p.Ala607Ser Single submitter ⚠
- p.Ala693Ser Single submitter ⚠
- p.Arg128Trp Single submitter
- p.Arg155Trp Single submitter ⚠
- p.Arg163Ser Single submitter ⚠
- p.Arg220Trp Single submitter ⚠
- p.Arg357Gly Single submitter
- p.Arg366Gln Single submitter ⚠
- p.Arg366Trp Single submitter complex neurodevelopmental disorder
- p.Arg563Gln Single submitter ⚠
- p.Arg563Trp Single submitter ⚠
- p.Arg564Ter Single submitter
- p.Arg578Trp Single submitter ⚠
- p.Arg668Gln Single submitter ⚠
- p.Arg668Trp Single submitter ⚠
- p.Arg688Gln Single submitter ⚠
- p.Arg731Ter Single submitter
- p.Asn665Asp Single submitter ⚠
- p.Asp189Glu Single submitter ⚠
- p.Asp465Gly Single submitter
- p.Asp678Gly Single submitter ⚠
- p.Asp902Asn Single submitter PHF12-related disorder ⚠
- p.Cys525Phe Single submitter ⚠
- p.Gln594Glu Single submitter ⚠
- p.Gln649His Single submitter ⚠
- p.Gln980His Single submitter ⚠
- p.Gly549Asp Single submitter ⚠
- p.Gly599Ser Single submitter ⚠
- p.Gly771Asp Single submitter complex neurodevelopmental disorder ⚠
- p.His362Arg Single submitter ⚠
- p.His362Gln Single submitter ⚠
- p.His446Arg Single submitter ⚠
- p.His512Asn Single submitter ⚠
- p.His577Asn Single submitter ⚠
- p.Ile10Thr Single submitter ⚠
- p.Ile319Val Single submitter ⚠
- p.Ile394Thr Single submitter ⚠
- p.Ile520Val Single submitter ⚠
- p.Ile635Met Single submitter ⚠
- p.Leu439Phe Single submitter ⚠
- p.Leu444Ser Single submitter ⚠
- p.Leu641Phe Single submitter ⚠
- p.Leu868delinsThrSerValMetTer Single submitter
- p.Lys124Arg Single submitter ⚠
- p.Lys361Thr Single submitter ⚠
- p.Lys450Arg Single submitter ⚠
- p.Lys463Met Single submitter ⚠
- p.Lys528Arg Single submitter ⚠
- p.Pro199Leu Single submitter ⚠
- p.Pro304Leu Single submitter ⚠
- p.Pro31His Single submitter ⚠
- p.Pro363Ala Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Pro533His Single submitter ⚠
- p.Pro584Leu Single submitter ⚠
- p.Pro587Leu Single submitter ⚠
- p.Pro610Leu Single submitter ⚠
- p.Pro626Thr Single submitter ⚠
- p.Pro653Arg Single submitter ⚠
- p.Pro653Leu Single submitter ⚠
- p.Ser280Arg Single submitter ⚠
- p.Ser371Leu Single submitter ⚠
- p.Ser442Gly Single submitter ⚠
- p.Ser475Leu Single submitter ⚠
- p.Ser507Arg Single submitter ⚠
- p.Ser509Cys Single submitter ⚠
- p.Ser695Leu Single submitter ⚠
- p.Thr130Ile Single submitter ⚠
- p.Thr477Ile Single submitter ⚠
- p.Thr532Asn Single submitter ⚠
- p.Tyr553Cys Single submitter ⚠
- p.Val271Ile Single submitter ⚠
- p.Val598Ile Single submitter ⚠
- p.Val646Ala Single submitter ⚠
- p.Val766Ala Single submitter ⚠
- p.His993Tyr No assertion criteria PHF12-related disorder ⚠
- p.Ile188del No assertion criteria PHF12-related disorder
- p.Val195Ile No assertion criteria PHF12-related disorder ⚠
- p.Val773Ile No assertion criteria PHF12-related disorder ⚠