CD99L2 — 54 ClinVar variants
All ClinVar germline CD99L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
2 Conflicting · 1 Benign · 1 Benign/Likely benign · 4 Likely benign · 46 Uncertain significance
Full CD99L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD99L2 p.Arg131Gln Uncertain significance Single submitter
- CD99L2 p.Asn129Asp Uncertain significance Single submitter
- CD99L2 p.Glu258Asp Uncertain significance Single submitter
- CD99L2 p.Gly58Arg Uncertain significance Single submitter
- CD99L2 p.His97Arg Uncertain significance Single submitter
- CD99L2 p.Ile262Val Uncertain significance Single submitter
- CD99L2 p.Leu9Val Uncertain significance Single submitter
- CD99L2 p.Phe8Leu Uncertain significance Single submitter
- CD99L2 p.Pro176Arg Uncertain significance Single submitter
- CD99L2 p.Pro239Ser Uncertain significance Single submitter
- CD99L2 p.Trp46Arg Uncertain significance Single submitter
- CD99L2 p.Trp95Arg Uncertain significance Single submitter
- CD99L2 p.Val181Ala Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
-
CD99L2 p.Asp175Asn
Benign/Likely benign
Multiple submitters
neurodevelopmental disorder
- CD99L2 p.Ala182Ser Uncertain significance Single submitter
- CD99L2 p.Arg104Lys Uncertain significance Single submitter
- CD99L2 p.Arg135Cys Uncertain significance Single submitter
- CD99L2 p.Arg169Gln Uncertain significance Single submitter
- CD99L2 p.Arg169Trp Uncertain significance Single submitter
- CD99L2 p.Arg84His Uncertain significance Single submitter
- CD99L2 p.Asp133Asn Uncertain significance Single submitter
- CD99L2 p.Asp174Val Uncertain significance Single submitter
- CD99L2 p.Asp82His Uncertain significance Single submitter
- CD99L2 p.Gln219His Uncertain significance Single submitter
- CD99L2 p.Gln249Leu Uncertain significance Single submitter
- CD99L2 p.Glu151Gln Uncertain significance Single submitter
- CD99L2 p.Gly155Trp Uncertain significance Single submitter
- CD99L2 p.Gly171Asp Uncertain significance Single submitter
- CD99L2 p.Gly220Asp Uncertain significance Single submitter
- CD99L2 p.Gly228Arg Uncertain significance Single submitter
- CD99L2 p.Gly70Val Uncertain significance Single submitter
- CD99L2 p.Leu16Phe Uncertain significance Single submitter
- CD99L2 p.Lys242Asn Uncertain significance Single submitter
- CD99L2 p.Pro105Ser Uncertain significance Single submitter
- CD99L2 p.Pro255Leu Uncertain significance Single submitter
- CD99L2 p.Pro63Leu Uncertain significance Single submitter
- CD99L2 p.Pro87Arg Uncertain significance Single submitter
- CD99L2 p.Pro87Leu Uncertain significance Single submitter
- CD99L2 p.Thr101Lys Uncertain significance Single submitter
- CD99L2 p.Thr101Met Uncertain significance Single submitter
- CD99L2 p.Thr54Asn Uncertain significance Single submitter
- CD99L2 p.Thr59Ile Likely benign Single submitter
- CD99L2 p.Tyr243His Uncertain significance Single submitter
- CD99L2 p.Val202Ile Conflicting Single submitter
- CD99L2 p.Val226Met Uncertain significance Single submitter
- CD99L2 p.Val234Met Uncertain significance Single submitter
- CD99L2 p.Val235Ile Uncertain significance Single submitter
All CD99L2 variants
Conflicting classifications of pathogenicity 2
- p.Arg261Gln Single submitter ⚠
- p.Val202Ile Single submitter ⚠
Benign 1
- p.Pro253= Single submitter
Benign/Likely benign 1
- p.Asp175Asn Multiple submitters neurodevelopmental disorder ⚠
Likely benign 4
- p.Asn173Ser Single submitter
- p.Pro63= Single submitter
- p.Ser244= Single submitter
- p.Thr59Ile Single submitter ⚠
Uncertain significance 46
- c.203-9C>A Single submitter
- c.68-5755G>T Single submitter inclusion body myositis
- p.Ala182Ser Single submitter ⚠
- p.Arg104Lys Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg135Cys Single submitter ⚠
- p.Arg169Gln Single submitter ⚠
- p.Arg169Trp Single submitter ⚠
- p.Arg84His Single submitter ⚠
- p.Asn129Asp Single submitter ⚠
- p.Asp133Asn Single submitter ⚠
- p.Asp174Val Single submitter ⚠
- p.Asp82His Single submitter ⚠
- p.Gln219His Single submitter ⚠
- p.Gln249Leu Single submitter ⚠
- p.Glu151Gln Single submitter ⚠
- p.Glu258Asp Single submitter ⚠
- p.Gly155Trp Single submitter ⚠
- p.Gly171Asp Single submitter ⚠
- p.Gly220Asp Single submitter ⚠
- p.Gly228Arg Single submitter ⚠
- p.Gly58Arg Single submitter ⚠
- p.Gly70Val Single submitter ⚠
- p.His97Arg Single submitter ⚠
- p.Ile262Val Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Leu9Val Single submitter ⚠
- p.Lys242Asn Single submitter ⚠
- p.Phe8Leu Single submitter ⚠
- p.Pro105Ser Single submitter ⚠
- p.Pro176Arg Single submitter ⚠
- p.Pro239Ser Single submitter ⚠
- p.Pro255Leu Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Pro87Arg Single submitter ⚠
- p.Pro87Leu Single submitter ⚠
- p.Thr101Lys Single submitter ⚠
- p.Thr101Met Single submitter ⚠
- p.Thr54Asn Single submitter ⚠
- p.Trp46Arg Single submitter ⚠
- p.Trp95Arg Single submitter ⚠
- p.Tyr243His Single submitter ⚠
- p.Val181Ala Single submitter ⚠
- p.Val226Met Single submitter ⚠
- p.Val234Met Single submitter ⚠
- p.Val235Ile Single submitter ⚠