CD44 — 118 ClinVar variants
All ClinVar germline CD44 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
13 Benign · 20 Likely benign · 85 Uncertain significance
Full CD44 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD44 p.Ala20Thr Uncertain significance Single submitter
- CD44 p.Ala314Thr Uncertain significance Single submitter
- CD44 p.Ala427Val Uncertain significance Single submitter
- CD44 p.Ala703Ser Uncertain significance Single submitter
- CD44 p.Arg286Ser Uncertain significance Single submitter
- CD44 p.Arg407Lys Uncertain significance Single submitter
- CD44 p.Arg413His Uncertain significance Single submitter
- CD44 p.Arg545Gly Uncertain significance Single submitter
- CD44 p.Arg78Gly Uncertain significance Single submitter
- CD44 p.Arg90Gln Uncertain significance Single submitter
- CD44 p.Asn172Lys Uncertain significance Single submitter
- CD44 p.Asn595Ile Uncertain significance Single submitter
- CD44 p.Asn685His Uncertain significance Single submitter
- CD44 p.Asp206Asn Uncertain significance Single submitter
- CD44 p.Asp284Asn Uncertain significance Single submitter
- CD44 p.Asp419Val Uncertain significance Single submitter
- CD44 p.Asp525Val Uncertain significance Single submitter
- CD44 p.Asp693Gly Uncertain significance Single submitter
- CD44 p.Gln386Arg Uncertain significance Single submitter
- CD44 p.Glu277Asp Uncertain significance Single submitter
- CD44 p.Glu301Gly Uncertain significance Single submitter
- CD44 p.Glu37Ala Uncertain significance Single submitter
- CD44 p.Glu551Lys Uncertain significance Single submitter
- CD44 p.Gly192Arg Uncertain significance Single submitter
- CD44 p.Gly552Ala Uncertain significance Single submitter
- CD44 p.Gly582Arg Uncertain significance Single submitter
- CD44 p.Gly614Val Uncertain significance Single submitter
- CD44 p.Gly701Arg Uncertain significance Single submitter
- CD44 p.His409Tyr Uncertain significance Single submitter
- CD44 p.Ile44Thr Uncertain significance Single submitter
- CD44 p.Ile96Val Uncertain significance Single submitter
- CD44 p.Lys255Met Uncertain significance Single submitter
- CD44 p.Lys580Arg Uncertain significance Single submitter
- CD44 p.Met344Leu Uncertain significance Single submitter
- CD44 p.Met461Ile Uncertain significance Single submitter
- CD44 p.Met473Val Uncertain significance Single submitter
- CD44 p.Met738Val Uncertain significance Single submitter
- CD44 p.Pro173Ser Uncertain significance Single submitter
- CD44 p.Pro205Ala Uncertain significance Single submitter
- CD44 p.Pro334Leu Uncertain significance Single submitter
- CD44 p.Pro389Arg Uncertain significance Single submitter
- CD44 p.Pro456Gln Uncertain significance Single submitter
- CD44 p.Ser190Pro Uncertain significance Single submitter
- CD44 p.Ser430Leu Uncertain significance Single submitter
- CD44 p.Ser516Leu Uncertain significance Single submitter
- CD44 p.Ser530Thr Uncertain significance Single submitter
- CD44 p.Thr163Met Uncertain significance Single submitter
- CD44 p.Thr388Ala Uncertain significance Single submitter
- CD44 p.Thr590Ser Uncertain significance Single submitter
- CD44 p.Thr730Ala Uncertain significance Single submitter
- CD44 p.Trp324Gly Uncertain significance Single submitter
- CD44 p.Trp6Leu Uncertain significance Single submitter
- CD44 p.Tyr155Phe Uncertain significance Single submitter
- CD44 p.Tyr355Asp Uncertain significance Single submitter
- CD44 p.Val104Leu Uncertain significance Single submitter
- CD44 p.Val586Ile Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- CD44 p.Arg673Gln Likely benign Multiple submitters
- CD44 p.Thr393Met Benign Multiple submitters
- CD44 p.Arg313Trp Uncertain significance Single submitter
- CD44 p.Arg46Trp Uncertain significance Single submitter
- CD44 p.Asn110Ser Uncertain significance Single submitter
- CD44 p.Gly181Asp Uncertain significance Single submitter
- CD44 p.Gly620Glu Uncertain significance Single submitter
- CD44 p.Gly633Cys Uncertain significance Single submitter
- CD44 p.Gly741Ala Uncertain significance Single submitter
- CD44 p.His92Tyr Uncertain significance Single submitter
- CD44 p.Leu14Phe Uncertain significance Single submitter
- CD44 p.Lys739Gln Uncertain significance Single submitter
- CD44 p.Lys739Thr Uncertain significance Single submitter
- CD44 p.Met63Ile Uncertain significance Single submitter
- CD44 p.Ser179Asn Uncertain significance Single submitter
- CD44 p.Ser226Asn Uncertain significance Single submitter
- CD44 p.Ser252Leu Uncertain significance Single submitter
- CD44 p.Ser305Tyr Uncertain significance Single submitter
- CD44 p.Ser476Arg Uncertain significance Single submitter
- CD44 p.Ser570Arg Uncertain significance Single submitter
- CD44 p.Ser612Asn Uncertain significance Single submitter
- CD44 p.Thr341Ala Uncertain significance Single submitter
- CD44 p.Thr442Ile Uncertain significance Single submitter
- CD44 p.Thr480Met Uncertain significance Single submitter
- CD44 p.Thr484Ile Uncertain significance Single submitter
- CD44 p.Thr505Met Uncertain significance Single submitter
- CD44 p.Thr515Ile Uncertain significance Single submitter
- CD44 p.Thr533Lys Uncertain significance Single submitter
- CD44 p.Thr541Ile Likely benign Single submitter
- CD44 p.Trp244Cys Uncertain significance Single submitter
-
CD44 p.Arg46Gln
Benign
No assertion criteria
INDIAN BLOOD GROUP SYSTEM POLYMORPHISM
All CD44 variants
Benign 13
- c.367+7T>C Multiple submitters
- p.Arg463Gln Multiple submitters
- p.Gly462= Multiple submitters
- p.Ile457Val Multiple submitters
- p.Phe245= Multiple submitters
- p.Thr163= Multiple submitters
- p.Thr393Met Multiple submitters ⚠
- p.Thr415= Multiple submitters
- p.Thr561= Multiple submitters
- p.Arg46Gln No assertion criteria INDIAN BLOOD GROUP SYSTEM POLYMORPHISM ⚠
- p.Glu374= No assertion criteria CD44-related disorder
- p.Ile479Thr No assertion criteria CD44-related disorder
- p.Lys417Arg No assertion criteria CD44-related disorder
Likely benign 20
- p.Arg673Gln Multiple submitters ⚠
- c.1414+7G>T Single submitter
- c.923-10G>A Single submitter
- p.Ala49= Single submitter
- p.Asp115= Single submitter
- p.Glu729= Single submitter
- p.His85= Single submitter
- p.Leu556Ser Single submitter
- p.Lys680= Single submitter
- p.Lys705= Single submitter
- p.Ser672= Single submitter
- p.Ser697= Single submitter
- p.Thr146= Single submitter
- p.Thr197Asn Single submitter
- p.Thr213= Single submitter
- p.Thr541Ile Single submitter ⚠
- c.1282+10G>A No assertion criteria CD44-related disorder
- c.*1C>G No assertion criteria CD44-related disorder
- p.Asp243= No assertion criteria CD44-related disorder
- p.Thr216= No assertion criteria CD44-related disorder
Uncertain significance 85
- c.2024+633G>A Single submitter Blood group, Indian system
- c.436+3A>G Single submitter immunodeficiency due to CD25 deficiency
- p.Ala20Thr Single submitter ⚠
- p.Ala314Thr Single submitter ⚠
- p.Ala427Val Single submitter ⚠
- p.Ala703Ser Single submitter ⚠
- p.Arg286Ser Single submitter ⚠
- p.Arg313Trp Single submitter ⚠
- p.Arg407Lys Single submitter ⚠
- p.Arg413His Single submitter ⚠
- p.Arg46Trp Single submitter ⚠
- p.Arg545Gly Single submitter ⚠
- p.Arg78Gly Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Asn110Ser Single submitter ⚠
- p.Asn172Lys Single submitter ⚠
- p.Asn595Ile Single submitter ⚠
- p.Asn685His Single submitter ⚠
- p.Asp206Asn Single submitter ⚠
- p.Asp284Asn Single submitter ⚠
- p.Asp419Val Single submitter ⚠
- p.Asp525Val Single submitter ⚠
- p.Asp693Gly Single submitter ⚠
- p.Gln386Arg Single submitter ⚠
- p.Glu277Asp Single submitter ⚠
- p.Glu301Gly Single submitter ⚠
- p.Glu37Ala Single submitter ⚠
- p.Glu551Lys Single submitter ⚠
- p.Gly181Asp Single submitter ⚠
- p.Gly192Arg Single submitter ⚠
- p.Gly552Ala Single submitter ⚠
- p.Gly582Arg Single submitter ⚠
- p.Gly614Val Single submitter ⚠
- p.Gly620Glu Single submitter ⚠
- p.Gly633Cys Single submitter ⚠
- p.Gly701Arg Single submitter ⚠
- p.Gly741Ala Single submitter ⚠
- p.His409Tyr Single submitter ⚠
- p.His92Tyr Single submitter ⚠
- p.Ile44Thr Single submitter ⚠
- p.Ile96Val Single submitter ⚠
- p.Leu14Phe Single submitter ⚠
- p.Lys255Met Single submitter ⚠
- p.Lys580Arg Single submitter ⚠
- p.Lys739Gln Single submitter ⚠
- p.Lys739Thr Single submitter ⚠
- p.Met344Leu Single submitter ⚠
- p.Met461Ile Single submitter ⚠
- p.Met473Val Single submitter ⚠
- p.Met63Ile Single submitter ⚠
- p.Met738Val Single submitter ⚠
- p.Pro173Ser Single submitter ⚠
- p.Pro205Ala Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro389Arg Single submitter ⚠
- p.Pro456Gln Single submitter ⚠
- p.Ser179Asn Single submitter ⚠
- p.Ser190Pro Single submitter ⚠
- p.Ser226Asn Single submitter ⚠
- p.Ser252Leu Single submitter ⚠
- p.Ser305Tyr Single submitter ⚠
- p.Ser430Leu Single submitter ⚠
- p.Ser476Arg Single submitter ⚠
- p.Ser516Leu Single submitter ⚠
- p.Ser530Thr Single submitter ⚠
- p.Ser570Arg Single submitter ⚠
- p.Ser612Asn Single submitter ⚠
- p.Thr163Met Single submitter ⚠
- p.Thr341Ala Single submitter ⚠
- p.Thr388Ala Single submitter ⚠
- p.Thr442Ile Single submitter ⚠
- p.Thr480Met Single submitter ⚠
- p.Thr484Ile Single submitter ⚠
- p.Thr505Met Single submitter ⚠
- p.Thr515Ile Single submitter ⚠
- p.Thr533Lys Single submitter ⚠
- p.Thr590Ser Single submitter ⚠
- p.Thr730Ala Single submitter ⚠
- p.Trp244Cys Single submitter ⚠
- p.Trp324Gly Single submitter ⚠
- p.Trp6Leu Single submitter ⚠
- p.Tyr155Phe Single submitter ⚠
- p.Tyr355Asp Single submitter ⚠
- p.Val104Leu Single submitter ⚠
- p.Val586Ile Single submitter ⚠