PLEKHA1 — 49 ClinVar variants
All ClinVar germline PLEKHA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
2 Benign · 5 Likely benign · 42 Uncertain significance
Full PLEKHA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLEKHA1 p.Gln156Arg Uncertain significance Multiple submitters
- PLEKHA1 p.Arg130Cys Uncertain significance Single submitter
- PLEKHA1 p.Arg130Gly Uncertain significance Single submitter
- PLEKHA1 p.Arg233Gly Uncertain significance Single submitter
- PLEKHA1 p.Arg292Trp Uncertain significance Single submitter
- PLEKHA1 p.Arg314His Uncertain significance Single submitter
- PLEKHA1 p.Arg74Ser Uncertain significance Single submitter
- PLEKHA1 p.Asn127Lys Uncertain significance Single submitter
- PLEKHA1 p.Asn170Ser Uncertain significance Single submitter
- PLEKHA1 p.Asn95Ser Uncertain significance Single submitter
- PLEKHA1 p.Asp395Glu Uncertain significance Single submitter
- PLEKHA1 p.Asp396Asn Uncertain significance Single submitter
- PLEKHA1 p.Gln379His Uncertain significance Single submitter
- PLEKHA1 p.Gln379Leu Uncertain significance Single submitter
- PLEKHA1 p.Gln97Glu Uncertain significance Single submitter
- PLEKHA1 p.Glu159Val Uncertain significance Single submitter
- PLEKHA1 p.Gly295Ser Uncertain significance Single submitter
- PLEKHA1 p.His311Tyr Uncertain significance Single submitter
- PLEKHA1 p.Ile167Val Uncertain significance Single submitter
- PLEKHA1 p.Leu333Phe Uncertain significance Single submitter
- PLEKHA1 p.Met252Thr Uncertain significance Single submitter
- PLEKHA1 p.Pro306Leu Uncertain significance Single submitter
- PLEKHA1 p.Pro363Thr Uncertain significance Single submitter
- PLEKHA1 p.Pro400Leu Uncertain significance Single submitter
- PLEKHA1 p.Ser300Ala Uncertain significance Single submitter
- PLEKHA1 p.Ser402Asn Uncertain significance Single submitter
- PLEKHA1 p.Thr263Met Uncertain significance Single submitter
- PLEKHA1 p.Thr326Ala Uncertain significance Single submitter
- PLEKHA1 p.Thr336Asn Uncertain significance Single submitter
- PLEKHA1 p.Tyr212His Uncertain significance Single submitter
- PLEKHA1 p.Tyr268Cys Uncertain significance Single submitter
- PLEKHA1 p.Tyr268Phe Uncertain significance Single submitter
- PLEKHA1 p.Val234Ile Uncertain significance Single submitter
- PLEKHA1 p.Val40Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PLEKHA1 p.Ala77Val Uncertain significance Single submitter
- PLEKHA1 p.Arg6Cys Uncertain significance Single submitter
- PLEKHA1 p.Arg6His Uncertain significance Single submitter
- PLEKHA1 p.Gln98His Uncertain significance Single submitter
- PLEKHA1 p.Lys137Asn Uncertain significance Single submitter
- PLEKHA1 p.Lys66Thr Uncertain significance Single submitter
All PLEKHA1 variants
Benign 2
- c.342+1323C>T Single submitter
- c.682-5G>T Single submitter
Likely benign 5
- p.Asn124His Single submitter
- p.Asn317Ser Single submitter
- p.Ser249= Single submitter
- p.Thr316Ala Single submitter
- p.Thr336Ala Single submitter
Uncertain significance 42
- p.Gln156Arg Multiple submitters ⚠
- p.Ala271Ser Single submitter
- p.Ala77Val Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg130Gly Single submitter ⚠
- p.Arg233Gly Single submitter ⚠
- p.Arg292Trp Single submitter ⚠
- p.Arg314His Single submitter ⚠
- p.Arg6Cys Single submitter ⚠
- p.Arg6His Single submitter ⚠
- p.Arg74Ser Single submitter ⚠
- p.Asn127Lys Single submitter ⚠
- p.Asn170Ser Single submitter ⚠
- p.Asn95Ser Single submitter ⚠
- p.Asp395Glu Single submitter ⚠
- p.Asp396Asn Single submitter ⚠
- p.Gln379His Single submitter ⚠
- p.Gln379Leu Single submitter ⚠
- p.Gln97Glu Single submitter ⚠
- p.Gln98His Single submitter ⚠
- p.Glu159Val Single submitter ⚠
- p.Gly295Ser Single submitter ⚠
- p.His311Tyr Single submitter ⚠
- p.Ile167Val Single submitter ⚠
- p.Leu333Phe Single submitter ⚠
- p.Lys137Asn Single submitter ⚠
- p.Lys66Thr Single submitter ⚠
- p.Met252Thr Single submitter ⚠
- p.Pro306Leu Single submitter ⚠
- p.Pro363Thr Single submitter ⚠
- p.Pro400Leu Single submitter ⚠
- p.Ser300Ala Single submitter ⚠
- p.Ser402Asn Single submitter ⚠
- p.Thr263Met Single submitter ⚠
- p.Thr326Ala Single submitter ⚠
- p.Thr336Asn Single submitter ⚠
- p.Tyr212His Single submitter ⚠
- p.Tyr268Cys Single submitter ⚠
- p.Tyr268Phe Single submitter ⚠
- p.Val234Ile Single submitter ⚠
- p.Val40Met Single submitter ⚠
- p.Val67Ile Single submitter