DIPK1C — 101 ClinVar variants

All ClinVar germline DIPK1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

10 Likely benign · 91 Uncertain significance

Full DIPK1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 50

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

Predictors split 42

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

All DIPK1C variants

Likely benign 10

p.Ala39= Single submitter
p.Arg15Gly Single submitter
p.Arg393Gln Single submitter
p.Asn265Ser Single submitter
p.Gln68Arg Single submitter
p.Met150Leu Single submitter
p.Pro10Arg Single submitter
p.Ser129Gly Single submitter
p.Val367Ile Single submitter
p.Val399Met Single submitter ⚠

Uncertain significance 91

p.Ala121Asp Single submitter ⚠
p.Ala158Ser Single submitter ⚠
p.Ala158Thr Single submitter ⚠
p.Ala189Asp Single submitter ⚠
p.Ala226Asp Single submitter ⚠
p.Ala227Thr Single submitter ⚠
p.Ala295Val Single submitter ⚠
p.Ala29Asp Single submitter ⚠
p.Ala301Thr Single submitter ⚠
p.Ala30Thr Single submitter ⚠
p.Ala378Val Single submitter ⚠
p.Ala40Val Single submitter ⚠
p.Ala5Glu Single submitter ⚠
p.Ala5Val Single submitter ⚠
p.Ala64Asp Single submitter ⚠
p.Ala86Pro Single submitter ⚠
p.Arg109Cys Single submitter ⚠
p.Arg111Gln Single submitter ⚠
p.Arg176Leu Single submitter ⚠
p.Arg176Trp Single submitter ⚠
p.Arg181Trp Single submitter ⚠
p.Arg233Lys Single submitter ⚠
p.Arg240Trp Single submitter ⚠
p.Arg274Cys Single submitter ⚠
p.Arg288Gln Single submitter ⚠
p.Arg308Lys Single submitter ⚠
p.Arg333Gln Single submitter ⚠
p.Arg341His Single submitter ⚠
p.Arg355Cys Single submitter ⚠
p.Arg393Gly Single submitter ⚠
p.Arg393Trp Single submitter ⚠
p.Arg3Gly Single submitter ⚠
p.Arg3Pro Single submitter ⚠
p.Arg404Cys Single submitter ⚠
p.Asn343Lys Single submitter ⚠
p.Asp107Asn Single submitter ⚠
p.Asp204His Single submitter ⚠
p.Asp290Ala Single submitter ⚠
p.Asp320Asn Single submitter ⚠
p.Asp56Glu Single submitter ⚠
p.Asp69Glu Single submitter ⚠
p.Cys216Arg Single submitter ⚠
p.Cys54Ser Single submitter ⚠
p.Cys80Trp Single submitter ⚠
p.Glu119Lys Single submitter ⚠
p.Glu146Ala Single submitter ⚠
p.Glu146Gly Single submitter ⚠
p.Glu312Asp Single submitter ⚠
p.Glu52Gln Single submitter ⚠
p.Gly110Arg Single submitter ⚠
p.Gly110Ser Single submitter ⚠
p.Gly12Glu Single submitter ⚠
p.Gly136Arg Single submitter ⚠
p.Gly169Glu Single submitter ⚠
p.Gly182Val Single submitter ⚠
p.Gly214Ser Single submitter ⚠
p.Gly217Ser Single submitter ⚠
p.Gly338Arg Single submitter ⚠
p.Gly34Ser Single submitter ⚠
p.Gly9Val Single submitter ⚠
p.His208Gln Single submitter ⚠
p.Ile310Leu Single submitter ⚠
p.Leu104Met Single submitter ⚠
p.Leu205Pro Single submitter ⚠
p.Leu258Val Single submitter ⚠
p.Leu407Ile Single submitter ⚠
p.Leu414Val Single submitter ⚠
p.Leu41Arg Single submitter ⚠
p.Leu89Arg Single submitter ⚠
p.Met142Val Single submitter ⚠
p.Met150Thr Single submitter ⚠
p.Met263Thr Single submitter ⚠
p.Phe236Leu Single submitter ⚠
p.Phe285Leu Single submitter ⚠
p.Phe28Cys Single submitter ⚠
p.Phe91Leu Single submitter ⚠
p.Pro127Leu Single submitter ⚠
p.Pro170Leu Single submitter ⚠
p.Pro178Thr Single submitter ⚠
p.Pro282Arg Single submitter ⚠
p.Pro282Leu Single submitter ⚠
p.Pro388Leu Single submitter ⚠
p.Ser167Ile Single submitter ⚠
p.Ser259Thr Single submitter ⚠
p.Thr392Ile Single submitter ⚠
p.Thr74Met Single submitter ⚠
p.Val103Glu Single submitter ⚠
p.Val209Leu Single submitter ⚠
p.Val209Met Single submitter ⚠
p.Val298Glu Single submitter ⚠
p.Val387Ile Single submitter ⚠