PI4K2A — 38 ClinVar variants
All ClinVar germline PI4K2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Pathogenic · 36 Uncertain significance
Full PI4K2A 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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PI4K2A p.Ala279Thr Uncertain significance Single submitter
- PI4K2A p.Ala85Val Uncertain significance Single submitter
- PI4K2A p.Ala86Val Uncertain significance Single submitter
- PI4K2A p.Arg123Ser Uncertain significance Single submitter
- PI4K2A p.Arg228Gln Uncertain significance Single submitter
- PI4K2A p.Arg288Gln Uncertain significance Single submitter
- PI4K2A p.Arg296Trp Uncertain significance Single submitter
- PI4K2A p.Arg305Cys Uncertain significance Single submitter
- PI4K2A p.Arg328Trp Uncertain significance Single submitter
- PI4K2A p.Asn249His Uncertain significance Single submitter
- PI4K2A p.Asp2Asn Uncertain significance Single submitter
- PI4K2A p.Cys320Tyr Uncertain significance Single submitter
- PI4K2A p.Gln470His Uncertain significance Single submitter
- PI4K2A p.Glu265Lys Uncertain significance Single submitter
- PI4K2A p.Ile121Met Uncertain significance Single submitter
- PI4K2A p.Ile388Val Uncertain significance Single submitter
- PI4K2A p.Ile450Val Uncertain significance Single submitter
- PI4K2A p.Leu162Arg Uncertain significance Single submitter
- PI4K2A p.Leu292Val Uncertain significance Single submitter
- PI4K2A p.Lys438Arg Uncertain significance Single submitter
- PI4K2A p.Met322Val Uncertain significance Single submitter
- PI4K2A p.Pro143Ser Uncertain significance Single submitter
- PI4K2A p.Pro370Arg Uncertain significance Single submitter
- PI4K2A p.Val264Ala Uncertain significance Single submitter
- PI4K2A p.Val394Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PI4K2A p.Arg146Gly Uncertain significance Single submitter
- PI4K2A p.Arg210His Uncertain significance Single submitter
- PI4K2A p.Arg288Trp Uncertain significance Single submitter
- PI4K2A p.Glu239Asp Uncertain significance Single submitter
- PI4K2A p.Glu452Lys Uncertain significance Single submitter
- PI4K2A p.Gly145Glu Uncertain significance Single submitter
- PI4K2A p.Ile148Thr Uncertain significance Single submitter
- PI4K2A p.Pro6Leu Uncertain significance Single submitter
- PI4K2A p.Thr466Ile Uncertain significance Single submitter
- PI4K2A p.Tyr272Cys Uncertain significance Single submitter
- PI4K2A p.Val241Met Uncertain significance Single submitter
All PI4K2A variants
Pathogenic 2
- p.Tyr318Ter Single submitter neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
- p.Arg309Ter No assertion criteria neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
Uncertain significance 36
- p.Ala279Thr Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Ala86Val Single submitter ⚠
- p.Arg123Ser Single submitter ⚠
- p.Arg146Gly Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg228Gln Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg288Trp Single submitter ⚠
- p.Arg296Trp Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Arg328Trp Single submitter ⚠
- p.Asn249His Single submitter ⚠
- p.Asp2Asn Single submitter ⚠
- p.Cys320Tyr Single submitter ⚠
- p.Gln470His Single submitter ⚠
- p.Glu239Asp Single submitter ⚠
- p.Glu265Lys Single submitter ⚠
- p.Glu452Lys Single submitter ⚠
- p.Gly145Glu Single submitter ⚠
- p.Ile121Met Single submitter ⚠
- p.Ile148Thr Single submitter ⚠
- p.Ile388Val Single submitter ⚠
- p.Ile450Val Single submitter ⚠
- p.Leu162Arg Single submitter ⚠
- p.Leu292Val Single submitter ⚠
- p.Lys438Arg Single submitter ⚠
- p.Met322Val Single submitter ⚠
- p.Pro143Ser Single submitter ⚠
- p.Pro370Arg Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Thr466Ile Single submitter ⚠
- p.Tyr272Cys Single submitter ⚠
- p.Val241Met Single submitter ⚠
- p.Val264Ala Single submitter ⚠
- p.Val394Ile Single submitter ⚠