PLD2 — 158 ClinVar variants

All ClinVar germline PLD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

6 Benign · 7 Likely benign · 145 Uncertain significance

Full PLD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 114

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 25

The independent predictors disagree with each other — read with care.

All PLD2 variants

Benign 6

c.2010-9C>T Multiple submitters
p.Arg330Gln Multiple submitters ⚠
p.Arg553Gln Multiple submitters ⚠
p.His278Tyr Multiple submitters
p.Ile860= Multiple submitters
c.1702-6C>T Single submitter

Likely benign 7

p.Arg490Cys Multiple submitters
p.Thr569Ala Multiple submitters
p.Arg137Gln Single submitter
p.Arg336= Single submitter
p.Ile399Val Single submitter
p.Val370Ile Single submitter
p.Val546= Single submitter

Uncertain significance 145

p.Ala184Val Single submitter ⚠
p.Ala355Thr Single submitter ⚠
p.Ala419Val Single submitter ⚠
p.Ala483Val Single submitter ⚠
p.Ala571Ser Single submitter ⚠
p.Arg142Gly Single submitter ⚠
p.Arg149Trp Single submitter ⚠
p.Arg180Cys Single submitter
p.Arg180His Single submitter
p.Arg202His Single submitter ⚠
p.Arg202Leu Single submitter ⚠
p.Arg217Gly Single submitter ⚠
p.Arg226Gln Single submitter ⚠
p.Arg277Gln Single submitter ⚠
p.Arg277Trp Single submitter ⚠
p.Arg300Trp Single submitter ⚠
p.Arg330Trp Single submitter
p.Arg336Gln Single submitter ⚠
p.Arg336Pro Single submitter ⚠
p.Arg336Trp Single submitter ⚠
p.Arg374His Single submitter ⚠
p.Arg396His Single submitter ⚠
p.Arg464His Single submitter ⚠
p.Arg524Gln Single submitter ⚠
p.Arg524Leu Single submitter ⚠
p.Arg541Gln Single submitter ⚠
p.Arg562Cys Single submitter ⚠
p.Arg676fs Single submitter
p.Arg676Leu Single submitter ⚠
p.Arg712Cys Single submitter ⚠
p.Arg720His Single submitter ⚠
p.Arg730Gln Single submitter ⚠
p.Arg739Cys Single submitter ⚠
p.Arg765Trp Single submitter ⚠
p.Arg777Gln Single submitter ⚠
p.Arg783Gln Single submitter ⚠
p.Arg810Met Single submitter ⚠
p.Arg810Thr Single submitter ⚠
p.Arg816Gln Single submitter ⚠
p.Arg816Gly Single submitter ⚠
p.Arg829Gln Single submitter ⚠
p.Arg829Trp Single submitter ⚠
p.Arg835Gln Single submitter ⚠
p.Arg862His Single submitter ⚠
p.Arg870Gly Single submitter ⚠
p.Arg870His Single submitter ⚠
p.Arg873Gln Single submitter ⚠
p.Arg873Trp Single submitter ⚠
p.Arg876Trp Single submitter ⚠
p.Asn141Ser Single submitter ⚠
p.Asn426Asp Single submitter
p.Asn624Ser Single submitter ⚠
p.Asp16Gly Single submitter ⚠
p.Asp283Asn Single submitter ⚠
p.Asp449Asn Single submitter ⚠
p.Asp459Asn Single submitter ⚠
p.Asp731Glu Single submitter ⚠
p.Asp784Tyr Single submitter ⚠
p.Asp833Glu Single submitter ⚠
p.Asp848His Single submitter ⚠
p.Cys601Tyr Single submitter ⚠
p.Gln304Glu Single submitter ⚠
p.Gln503Glu Single submitter ⚠
p.Glu527Lys Single submitter ⚠
p.Glu792Lys Single submitter ⚠
p.Glu851Asp Single submitter ⚠
p.Gly140Cys Single submitter ⚠
p.Gly204Glu Single submitter ⚠
p.Gly270Arg Single submitter ⚠
p.Gly270Glu Single submitter ⚠
p.Gly279Ser Single submitter ⚠
p.Gly312Cys Single submitter ⚠
p.Gly598Glu Single submitter ⚠
p.Gly599Arg Single submitter ⚠
p.Gly650Glu Single submitter ⚠
p.Gly689Asp Single submitter ⚠
p.Gly921Asp Single submitter ⚠
p.His216Arg Single submitter ⚠
p.His286Asn Single submitter ⚠
p.His635Gln Single submitter ⚠
p.His719Tyr Single submitter ⚠
p.Ile361Phe Single submitter ⚠
p.Ile399Leu Single submitter ⚠
p.Ile645Val Single submitter ⚠
p.Ile691Met Single submitter ⚠
p.Ile755Val Single submitter ⚠
p.Ile769Thr Single submitter
p.Ile791Thr Single submitter ⚠
p.Ile856Asn Single submitter ⚠
p.Leu20Phe Single submitter ⚠
p.Leu366Trp Single submitter ⚠
p.Leu422Pro Single submitter ⚠
p.Leu522Val Single submitter ⚠
p.Leu582Pro Single submitter ⚠
p.Leu845Ser Single submitter ⚠
p.Leu8Pro Single submitter ⚠
p.Lys570Arg Single submitter ⚠
p.Met22Val Single submitter ⚠
p.Met386Thr Single submitter ⚠
p.Phe188Leu Single submitter ⚠
p.Phe257Ser Single submitter ⚠
p.Phe906Leu Single submitter ⚠
p.Pro328Leu Single submitter ⚠
p.Pro489Arg Single submitter ⚠
p.Pro497Ser Single submitter ⚠
p.Pro551Leu Single submitter ⚠
p.Pro597Thr Single submitter ⚠
p.Pro883Ser Single submitter ⚠
p.Pro890Arg Single submitter ⚠
p.Pro928Thr Single submitter ⚠
p.Ser161Asn Single submitter ⚠
p.Ser17Ala Single submitter ⚠
p.Ser24Phe Single submitter ⚠
p.Ser294Cys Single submitter ⚠
p.Ser481Thr Single submitter ⚠
p.Ser646Ile Single submitter ⚠
p.Ser716Leu Single submitter ⚠
p.Ser750Leu Single submitter ⚠
p.Ser799Cys Single submitter ⚠
p.Ser7Arg Single submitter ⚠
p.Ser888Thr Single submitter ⚠
p.Thr274Met Single submitter
p.Thr284Ala Single submitter ⚠
p.Thr496Ile Single submitter ⚠
p.Thr566Ile Single submitter ⚠
p.Thr588Met Single submitter ⚠
p.Thr629Ile Single submitter ⚠
p.Thr727Ser Single submitter ⚠
p.Thr869Met Single submitter ⚠
p.Thr886Met Single submitter ⚠
p.Thr897Asn Single submitter ⚠
p.Trp563Arg Single submitter ⚠
p.Tyr462Cys Single submitter ⚠
p.Tyr678Cys Single submitter ⚠
p.Val131Ile Single submitter ⚠
p.Val240Leu Single submitter ⚠
p.Val280Met Single submitter ⚠
p.Val339Leu Single submitter
p.Val405Gly Single submitter ⚠
p.Val447Ala Single submitter ⚠
p.Val547Ile Single submitter ⚠
p.Val604Ile Single submitter ⚠
p.Val789Met Single submitter ⚠
p.Val881Met Single submitter ⚠
p.Arg553Trp No assertion criteria ⚠