DIPK2B — 16 ClinVar variants
All ClinVar germline DIPK2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
6 Benign · 8 Likely benign · 2 Uncertain significance
Full DIPK2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 3
The independent predictors disagree with each other — read with care.
- DIPK2B p.Lys70Asn Benign Single submitter
-
DIPK2B p.Asp391His
Likely benign
No assertion criteria
DIPK2B-related disorder
-
DIPK2B p.Ser105Pro
Benign
No assertion criteria
DIPK2B-related disorder
All DIPK2B variants
Benign 6
- p.Ala133Glu Multiple submitters
- p.Lys364= Multiple submitters
- p.Lys70Asn Single submitter ⚠
- p.Arg128Lys No assertion criteria DIPK2B-related disorder
- p.Arg143Leu No assertion criteria DIPK2B-related disorder
- p.Ser105Pro No assertion criteria DIPK2B-related disorder ⚠
Likely benign 8
- c.499-4G>T Single submitter
- c.499-7C>T Single submitter
- p.Ala328= Single submitter
- p.Arg45= Single submitter
- p.Ile225= Single submitter
- p.Asp391His No assertion criteria DIPK2B-related disorder ⚠
- p.Leu366= No assertion criteria DIPK2B-related disorder
- p.Ser340= No assertion criteria DIPK2B-related disorder
Uncertain significance 2
- p.Thr138Ser Single submitter ⚠
- p.Gly231Arg No assertion criteria DIPK2B-related disorder ⚠