CD70 — 44 ClinVar variants
All ClinVar germline CD70 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
3 Pathogenic · 3 Benign · 9 Likely benign · 29 Uncertain significance
Full CD70 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CD70 p.Val130Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD70 p.Ala136Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Ala136Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Arg192Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Arg72Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CD70 p.Arg83His Uncertain significance Single submitter
-
CD70 p.Arg97His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Gly150Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Gly5Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.His107Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CD70 p.His124Arg Uncertain significance Single submitter
-
CD70 p.His124Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CD70 p.Ile108Val Uncertain significance Single submitter
-
CD70 p.Leu171Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Pro25Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Ser117Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Ser9Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Thr118Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CD70 p.Thr159Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
-
CD70 p.Leu23Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD70 p.Thr119Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD70 p.Ala129Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Arg72Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CD70 p.Ser146Ile Uncertain significance Single submitter
-
CD70 p.Thr118Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Thr126Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Thr166Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD70 p.Val35Met
Uncertain significance
Single submitter
Inborn genetic diseases
All CD70 variants
Pathogenic 3
- p.Arg179Ter No assertion criteria severe combined immunodeficiency due to CD70 deficiency
- p.Phe186del No assertion criteria severe combined immunodeficiency due to CD70 deficiency
- p.Ser84fs No assertion criteria severe combined immunodeficiency due to CD70 deficiency
Benign 3
- p.Cys115= Multiple submitters
- c.162+63T>C Single submitter
- c.-133G>T Single submitter
Likely benign 9
- p.Gly16= Multiple submitters
- p.Ser141= Multiple submitters
- p.Arg138His Single submitter Inborn genetic diseases
- p.His87Arg Single submitter Inborn genetic diseases
- p.Ser52= Single submitter
- c.196+7C>G No assertion criteria CD70-related disorder
- p.Asn203Ser No assertion criteria CD70-related disorder
- p.Leu151= No assertion criteria CD70-related disorder
- p.Thr159= No assertion criteria CD70-related disorder
Uncertain significance 29
- p.Leu23Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr119Met Multiple submitters Inborn genetic diseases ⚠
- p.Val130Met Multiple submitters Inborn genetic diseases ⚠
- p.Ala129Gly Single submitter Inborn genetic diseases ⚠
- p.Ala136Pro Single submitter Inborn genetic diseases ⚠
- p.Ala136Thr Single submitter Inborn genetic diseases ⚠
- p.Arg192Ser Single submitter Inborn genetic diseases ⚠
- p.Arg72Lys Single submitter Inborn genetic diseases ⚠
- p.Arg72Thr Single submitter Inborn genetic diseases ⚠
- p.Arg83His Single submitter ⚠
- p.Arg97His Single submitter Inborn genetic diseases ⚠
- p.Gly150Val Single submitter Inborn genetic diseases ⚠
- p.Gly5Arg Single submitter Inborn genetic diseases ⚠
- p.His107Pro Single submitter Inborn genetic diseases ⚠
- p.His124Arg Single submitter ⚠
- p.His124Gln Single submitter Inborn genetic diseases ⚠
- p.Ile108Val Single submitter ⚠
- p.Leu171Phe Single submitter Inborn genetic diseases ⚠
- p.Phe185fs Single submitter
- p.Pro25Thr Single submitter Inborn genetic diseases ⚠
- p.Ser117Pro Single submitter Inborn genetic diseases ⚠
- p.Ser146Ile Single submitter ⚠
- p.Ser9Leu Single submitter Inborn genetic diseases ⚠
- p.Thr118Ala Single submitter Inborn genetic diseases ⚠
- p.Thr118Met Single submitter Inborn genetic diseases ⚠
- p.Thr126Ile Single submitter Inborn genetic diseases ⚠
- p.Thr159Met Single submitter ⚠
- p.Thr166Ile Single submitter Inborn genetic diseases ⚠
- p.Val35Met Single submitter Inborn genetic diseases ⚠