KDELR2 — 40 ClinVar variants
All ClinVar germline KDELR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
4 Pathogenic · 2 Conflicting · 2 Benign · 5 Likely benign · 27 Uncertain significance
Full KDELR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KDELR2 p.Arg169Cys
Conflicting
Single submitter
osteogenesis imperfecta, type 21
-
KDELR2 p.His12Asp
Conflicting
No assertion criteria
osteogenesis imperfecta, type 21
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KDELR2 p.Ala69Thr Uncertain significance Single submitter
- KDELR2 p.Arg94Leu Uncertain significance Single submitter
- KDELR2 p.Asn165Ser Uncertain significance Single submitter
- KDELR2 p.Asn60Lys Uncertain significance Single submitter
- KDELR2 p.Gly184Ser Uncertain significance Single submitter
- KDELR2 p.Ile179Met Uncertain significance Single submitter
- KDELR2 p.Ile199Val Uncertain significance Single submitter
- KDELR2 p.Leu119Pro Uncertain significance Single submitter
- KDELR2 p.Leu132Pro Uncertain significance Single submitter
- KDELR2 p.Lys22Met Uncertain significance Single submitter
- KDELR2 p.Phe4Leu Uncertain significance Single submitter
- KDELR2 p.Pro115Ser Uncertain significance Single submitter
- KDELR2 p.Pro133Ala Uncertain significance Single submitter
-
KDELR2 p.Pro133Leu
Uncertain significance
Single submitter
osteogenesis imperfecta, type 21
- KDELR2 p.Ser128Cys Uncertain significance Single submitter
- KDELR2 p.Thr146Asn Uncertain significance Single submitter
- KDELR2 p.Thr188Ser Uncertain significance Single submitter
- KDELR2 p.Trp24Ser Uncertain significance Single submitter
- KDELR2 p.Val129Met Uncertain significance Single submitter
- KDELR2 p.Val185Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- KDELR2 p.Leu49Val Uncertain significance Single submitter
- KDELR2 p.Lys206Arg Uncertain significance Single submitter
- KDELR2 p.Lys207Gln Uncertain significance Single submitter
- KDELR2 p.Lys22Asn Uncertain significance Single submitter
- KDELR2 p.Lys83Asn Uncertain significance Single submitter
- KDELR2 p.Phe170Val Uncertain significance Single submitter
- KDELR2 p.Ser54Leu Uncertain significance Single submitter
All KDELR2 variants
Pathogenic 4
- p.Arg5Trp No assertion criteria osteogenesis imperfecta, type 21
- p.His150fs No assertion criteria osteogenesis imperfecta, type 21
- p.Trp120Ter No assertion criteria osteogenesis imperfecta, type 21
- p.Tyr162Cys No assertion criteria osteogenesis imperfecta, type 21
Conflicting classifications of pathogenicity 2
- p.Arg169Cys Single submitter osteogenesis imperfecta, type 21 ⚠
- p.His12Asp No assertion criteria osteogenesis imperfecta, type 21 ⚠
Benign 2
- c.192+36A>G Single submitter
- p.Leu135= Single submitter
Likely benign 5
- p.Asp112= Single submitter
- p.Gly103= Single submitter
- p.Tyr86= Single submitter
- c.*11C>T No assertion criteria KDELR2-related disorder
- c.*177_*178del No assertion criteria KDELR2-related disorder
Uncertain significance 27
- p.Ala69Thr Single submitter ⚠
- p.Arg94Leu Single submitter ⚠
- p.Asn165Ser Single submitter ⚠
- p.Asn60Lys Single submitter ⚠
- p.Gly184Ser Single submitter ⚠
- p.Ile179Met Single submitter ⚠
- p.Ile199Val Single submitter ⚠
- p.Leu119Pro Single submitter ⚠
- p.Leu132Pro Single submitter ⚠
- p.Leu49Val Single submitter ⚠
- p.Lys206Arg Single submitter ⚠
- p.Lys207Gln Single submitter ⚠
- p.Lys22Asn Single submitter ⚠
- p.Lys22Met Single submitter ⚠
- p.Lys83Asn Single submitter ⚠
- p.Phe170Val Single submitter ⚠
- p.Phe4Leu Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro133Ala Single submitter ⚠
- p.Pro133Leu Single submitter osteogenesis imperfecta, type 21 ⚠
- p.Ser128Cys Single submitter ⚠
- p.Ser54Leu Single submitter ⚠
- p.Thr146Asn Single submitter ⚠
- p.Thr188Ser Single submitter ⚠
- p.Trp24Ser Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val185Ile Single submitter ⚠