CD164 — 127 ClinVar variants
All ClinVar germline CD164 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
2 Conflicting · 25 Benign · 2 Benign/Likely benign · 45 Likely benign · 53 Uncertain significance
Full CD164 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD164 p.Leu183Pro Uncertain significance Multiple submitters
- CD164 p.Lys137Gln Uncertain significance Multiple submitters
- CD164 p.Phe186Tyr Uncertain significance Multiple submitters
- CD164 p.Ser133Pro Uncertain significance Multiple submitters
- CD164 p.Thr134Ala Uncertain significance Multiple submitters
- CD164 p.Val20Leu Uncertain significance Multiple submitters
- CD164 p.Ala37Thr Uncertain significance Single submitter
- CD164 p.Asn121Ser Uncertain significance Single submitter
- CD164 p.Asp107Asn Uncertain significance Single submitter
- CD164 p.Gln154Lys Uncertain significance Single submitter
- CD164 p.Glu62Gly Uncertain significance Single submitter
- CD164 p.Glu84Gln Uncertain significance Single submitter
- CD164 p.Glu88Gly Uncertain significance Single submitter
- CD164 p.Ile83Val Uncertain significance Single submitter
- CD164 p.Leu36Ser Uncertain significance Single submitter
- CD164 p.Lys25Glu Uncertain significance Single submitter
- CD164 p.Phe181Leu Uncertain significance Single submitter
- CD164 p.Ser69Cys Uncertain significance Single submitter
- CD164 p.Thr140Pro Uncertain significance Single submitter
- CD164 p.Thr78Ile Uncertain significance Single submitter
- CD164 p.Tyr90His Uncertain significance Single submitter
- CD164 p.Val111Ile Uncertain significance Single submitter
- CD164 p.Val111Leu Uncertain significance Single submitter
- CD164 p.Val171Phe Uncertain significance Single submitter
- CD164 p.Val73Asp Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- CD164 p.Arg192Gln Likely benign Multiple submitters
- CD164 p.Leu15Val Uncertain significance Multiple submitters
-
CD164 p.Leu9Phe
Uncertain significance
Multiple submitters
CD164-related disorder
- CD164 p.Pro38Ala Uncertain significance Multiple submitters
- CD164 p.Ser74Asn Benign/Likely benign Multiple submitters
- CD164 p.Ser92Leu Uncertain significance Multiple submitters
- CD164 p.Tyr90Cys Uncertain significance Multiple submitters
- CD164 p.Arg3Trp Uncertain significance Single submitter
- CD164 p.Arg6Cys Uncertain significance Single submitter
- CD164 p.Asn121Ile Uncertain significance Single submitter
- CD164 p.Asn32Lys Uncertain significance Single submitter
- CD164 p.Gln101His Uncertain significance Single submitter
- CD164 p.Glu191Lys Uncertain significance Single submitter
- CD164 p.His30Tyr Uncertain significance Single submitter
- CD164 p.Leu50Phe Uncertain significance Single submitter
- CD164 p.Lys188Arg Uncertain significance Single submitter
- CD164 p.Pro38Leu Uncertain significance Single submitter
- CD164 p.Pro58Leu Uncertain significance Single submitter
- CD164 p.Ser22Phe Uncertain significance Single submitter
- CD164 p.Ser5Tyr Uncertain significance Single submitter
- CD164 p.Ser74Arg Uncertain significance Single submitter
- CD164 p.Thr135Ala Uncertain significance Single submitter
- CD164 p.Thr135Asn Uncertain significance Single submitter
- CD164 p.Thr148Ala Uncertain significance Single submitter
- CD164 p.Thr152Ala Uncertain significance Single submitter
- CD164 p.Thr55Ile Uncertain significance Single submitter
- CD164 p.Val47Leu Uncertain significance Single submitter
All CD164 variants
Conflicting classifications of pathogenicity 2
- c.175+640A>T Single submitter autosomal dominant nonsyndromic hearing loss 66
- p.Ser110= Single submitter
Benign 25
- c.175+16G>A Multiple submitters
- c.259+20C>G Multiple submitters
- p.Thr134= Multiple submitters
- c.175+100G>A Single submitter
- c.175+166C>G Single submitter
- c.175+237G>C Single submitter
- c.176-191A>C Single submitter
- c.259+150G>T Single submitter
- c.260-185G>A Single submitter
- c.260-272T>A Single submitter
- c.331+240dup Single submitter
- c.331+255del Single submitter
- c.332-284T>G Single submitter
- c.370+226G>T Single submitter
- c.371-274C>T Single submitter
- c.371-96A>G Single submitter
- c.427+286A>G Single submitter
- c.428-12C>G Single submitter
- c.-41C>G Single submitter
- c.*147C>A Single submitter
- c.*152G>A Single submitter
- c.*373A>G Single submitter
- c.*623T>C Single submitter
- p.Pro126= Single submitter
- c.175+631C>T No assertion criteria CD164-related disorder
Benign/Likely benign 2
- p.Ser44Leu Multiple submitters
- p.Ser74Asn Multiple submitters ⚠
Likely benign 45
- c.175+80C>T Multiple submitters
- c.370+194A>G Multiple submitters
- p.Arg192Gln Multiple submitters ⚠
- p.Asn65Ser Multiple submitters
- p.Asn94= Multiple submitters
- p.Thr113= Multiple submitters
- c.175+689C>G Single submitter
- c.176-12C>T Single submitter
- c.176-16C>G Single submitter
- c.176-17dup Single submitter
- c.176-8C>T Single submitter
- c.259+12T>G Single submitter
- c.259+18T>G Single submitter
- c.259+8A>C Single submitter
- c.259+9C>T Single submitter
- c.260-10C>T Single submitter
- c.260-11C>T Single submitter
- c.260-8C>G Single submitter
- c.260-8C>T Single submitter
- c.331+11A>C Single submitter
- c.331+58G>C Single submitter
- c.332-20CTTTTTT[3] Single submitter
- c.371-18A>C Single submitter
- c.427+16T>C Single submitter
- c.427+58_427+59dup Single submitter
- c.428-297C>T Single submitter
- c.-3A>G Single submitter
- c.*320C>G Single submitter
- p.Ala11= Single submitter
- p.Ala120= Single submitter
- p.Arg64Gly Single submitter
- p.Asn41= Single submitter
- p.Cys19= Single submitter
- p.Cys70Tyr Single submitter
- p.Leu183= Single submitter
- p.Leu197= Single submitter
- p.Pro56= Single submitter
- p.Ser5= Single submitter
- p.Ser92= Single submitter
- p.Thr138= Single submitter
- p.Thr13Ala Single submitter
- p.Thr140= Single submitter
- p.Thr150= Single submitter
- c.*533A>T No assertion criteria CD164-related disorder
- p.Thr55Ser No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 53
- p.Leu15Val Multiple submitters ⚠
- p.Leu183Pro Multiple submitters ⚠
- p.Leu9Phe Multiple submitters CD164-related disorder ⚠
- p.Lys137Gln Multiple submitters ⚠
- p.Phe186Tyr Multiple submitters ⚠
- p.Pro38Ala Multiple submitters ⚠
- p.Ser133Pro Multiple submitters ⚠
- p.Ser92Leu Multiple submitters ⚠
- p.Thr134Ala Multiple submitters ⚠
- p.Tyr90Cys Multiple submitters ⚠
- p.Val20Leu Multiple submitters ⚠
- c.332-4A>G Single submitter CD164-related disorder
- c.-12G>A Single submitter
- c.*9A>C Single submitter
- p.Ala37Thr Single submitter ⚠
- p.Arg3Trp Single submitter ⚠
- p.Arg6Cys Single submitter ⚠
- p.Asn121Ile Single submitter ⚠
- p.Asn121Ser Single submitter ⚠
- p.Asn32Lys Single submitter ⚠
- p.Asp107Asn Single submitter ⚠
- p.Gln101His Single submitter ⚠
- p.Gln154Lys Single submitter ⚠
- p.Glu191Lys Single submitter ⚠
- p.Glu62Gly Single submitter ⚠
- p.Glu84Gln Single submitter ⚠
- p.Glu88Gly Single submitter ⚠
- p.His30Tyr Single submitter ⚠
- p.Ile83Val Single submitter ⚠
- p.Leu36Ser Single submitter ⚠
- p.Leu50Phe Single submitter ⚠
- p.Lys188Arg Single submitter ⚠
- p.Lys25Glu Single submitter ⚠
- p.Phe181Leu Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Ser5Tyr Single submitter ⚠
- p.Ser69Cys Single submitter ⚠
- p.Ser74Arg Single submitter ⚠
- p.Thr135Ala Single submitter ⚠
- p.Thr135Asn Single submitter ⚠
- p.Thr140Pro Single submitter ⚠
- p.Thr148Ala Single submitter ⚠
- p.Thr152Ala Single submitter ⚠
- p.Thr55Ile Single submitter ⚠
- p.Thr78Ile Single submitter ⚠
- p.Tyr90His Single submitter ⚠
- p.Val111Ile Single submitter ⚠
- p.Val111Leu Single submitter ⚠
- p.Val171Phe Single submitter ⚠
- p.Val47Leu Single submitter ⚠
- p.Val73Asp Single submitter ⚠