CXCR4 — 231 ClinVar variants
All ClinVar germline CXCR4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
21 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 15 Conflicting · 5 Benign · 7 Benign/Likely benign · 72 Likely benign · 102 Uncertain significance
Full CXCR4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CXCR4 p.Arg235His
Conflicting
Single submitter
WHIM syndrome
-
CXCR4 p.Arg334Gly
Conflicting
Single submitter
WHIM syndrome
-
CXCR4 p.Asn192Ser
Conflicting
Single submitter
WHIM syndrome
-
CXCR4 p.Asp84His
Conflicting
Single submitter
WHIM syndrome 1
-
CXCR4 p.Gly335Ser
Conflicting
Single submitter
WHIM syndrome
-
CXCR4 p.Ile53Leu
Conflicting
Single submitter
WHIM syndrome
-
CXCR4 p.Leu194Phe
Conflicting
Single submitter
Inborn genetic diseases
-
CXCR4 p.Tyr103His
Conflicting
Single submitter
WHIM syndrome
-
CXCR4 p.Val196Met
Conflicting
Single submitter
WHIM syndrome
Predictors lean, ClinVar uncertain 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CXCR4 p.Arg134Cys
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Arg334Gln
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Asn37Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CXCR4 p.Asp10Val
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Gly159Ser
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Ile243Leu
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Leu132Val
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Phe172Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CXCR4 p.Ser18Leu
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Ser325Gly
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Ser46Cys
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Ala141Val
Uncertain significance
Single submitter
CXCR4-related disorder
-
CXCR4 p.Ala164Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CXCR4 p.Arg146Lys
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Arg188His
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Arg235Cys
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Arg30His
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Arg322Gly
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Asn101Lys
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Asn278Ser
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Asn33Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CXCR4 p.Asn35Asp
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Asn37Asp
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Asp22His
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Asp84Asn
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Cys295Tyr
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Glu153Ala
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Glu268Asp
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Glu277Asp
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Glu2Gly
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Glu32Ala
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Gly17Asp
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Gly17Val
Uncertain significance
Single submitter
WHIM syndrome
- CXCR4 p.Gly306Ala Uncertain significance Single submitter
-
CXCR4 p.Gly323Arg
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.His232Arg
Uncertain significance
Single submitter
WHIM syndrome
- CXCR4 p.His232Pro Uncertain significance Single submitter
-
CXCR4 p.His294Arg
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.His315Asp
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.His337Gln
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.His79Tyr
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ile115Met
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ile221Leu
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ile261Met
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ile286Asn
Uncertain significance
Single submitter
WHIM syndrome 1
-
CXCR4 p.Ile328Val
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ile39Thr
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ile4Val
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Leu165Phe
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Leu301Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CXCR4 p.Lys310Glu
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Met24Val
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Met72Val
Uncertain significance
Single submitter
WHIM syndrome
- CXCR4 p.Phe276Ile Uncertain significance Single submitter
-
CXCR4 p.Phe293Tyr
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Phe93Ser
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ser131Ile
Uncertain significance
Single submitter
WHIM syndrome 1
-
CXCR4 p.Ser217Tyr
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ser229Thr
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ser348Gly
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ser352Gly
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Ser5Gly
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Thr13Ala
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Thr43Ala
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Tyr184Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CXCR4 p.Val139Ile
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Val160Ile
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Val177Leu
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Val197Ile
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Val320Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CXCR4 p.Val96Gly Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
-
CXCR4 p.Asp171Asn
Benign/Likely benign
Multiple submitters
WHIM syndrome
-
CXCR4 p.Phe249Leu
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Thr90Met
Uncertain significance
Multiple submitters
WHIM syndrome
-
CXCR4 p.Ala291Thr
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Asn119Ser
Uncertain significance
Single submitter
WHIM syndrome 1
-
CXCR4 p.Cys218Ser
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Cys220Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CXCR4 p.Cys251Phe
Uncertain significance
Single submitter
WHIM syndrome
- CXCR4 p.Cys251Ser Uncertain significance Single submitter
-
CXCR4 p.Glu288Lys
Likely benign
Single submitter
WHIM syndrome
-
CXCR4 p.Glu343Lys
Likely pathogenic
Single submitter
WHIM syndrome 1
-
CXCR4 p.His113Pro
Uncertain significance
Single submitter
WHIM syndrome
-
CXCR4 p.Phe40Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CXCR4 p.Ser122Asn
Uncertain significance
Single submitter
WHIM syndrome
- CXCR4 p.Ser263Pro Likely benign Single submitter
-
CXCR4 p.Thr117Arg
Uncertain significance
Single submitter
WHIM syndrome
- CXCR4 p.Trp283Cys Uncertain significance Single submitter
-
CXCR4 p.Val59Ile
Uncertain significance
Single submitter
WHIM syndrome 1
-
CXCR4 p.Val99Glu
Likely benign
Single submitter
WHIM syndrome
All CXCR4 variants
Pathogenic 21
- p.Arg334Ter Multiple submitters WHIM syndrome
- p.Gly336Ter Multiple submitters CXCR4-related disorder
- p.Ser338Ter Multiple submitters WHIM syndrome 1
- p.Ser339fs Multiple submitters WHIM syndrome 1
- p.Arg322fs Single submitter WHIM syndrome
- p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer Single submitter WHIM syndrome
- p.Glu345_Ser346insTer Single submitter WHIM syndrome 1
- p.Glu345fs Single submitter WHIM syndrome 1
- p.Gly323fs Single submitter WHIM syndrome 1
- p.Gly332Ter Single submitter WHIM syndrome
- p.Leu326fs Single submitter WHIM syndrome 1
- p.Leu329fs Single submitter WHIM syndrome 1
- p.Lys327fs Single submitter WHIM syndrome 1
- p.Ser319fs Single submitter WHIM syndrome 1
- p.Ser324fs Single submitter WHIM syndrome
- p.Ser330fs Single submitter
- p.Ser341fs Single submitter WHIM syndrome 1
- p.Thr318fs Single submitter WHIM syndrome 1
- p.Val320fs Single submitter WHIM syndrome
- p.Val340fs Single submitter WHIM syndrome 1
- p.Glu343Ter No assertion criteria WHIM syndrome
Pathogenic/Likely pathogenic 1
- p.Leu317fs Multiple submitters WHIM syndrome 1
Likely pathogenic 8
- p.Glu343Lys Single submitter WHIM syndrome 1 ⚠
- p.Glu345Ter Single submitter WHIM syndrome 1
- p.His337fs Single submitter WHIM syndrome
- p.Lys331fs Single submitter WHIM syndrome
- p.Lys333Ter Single submitter WHIM syndrome 1
- p.Ser319_Val320insTer Single submitter
- p.Ser338fs Single submitter WHIM syndrome
- p.Thr342fs Single submitter
Conflicting classifications of pathogenicity 15
- c.16-14T>A Single submitter WHIM syndrome
- p.Arg235His Single submitter WHIM syndrome ⚠
- p.Arg334Gly Single submitter WHIM syndrome ⚠
- p.Asn192Ser Single submitter WHIM syndrome ⚠
- p.Asp84His Single submitter WHIM syndrome 1 ⚠
- p.Gly335Ser Single submitter WHIM syndrome ⚠
- p.Gly336= Single submitter WHIM syndrome
- p.Ile169Thr Single submitter WHIM syndrome
- p.Ile53Leu Single submitter WHIM syndrome ⚠
- p.Leu194Phe Single submitter Inborn genetic diseases ⚠
- p.Met63Thr Single submitter Inborn genetic diseases
- p.Thr51= Single submitter WHIM syndrome
- p.Thr73= Single submitter WHIM syndrome
- p.Tyr103His Single submitter WHIM syndrome ⚠
- p.Val196Met Single submitter WHIM syndrome ⚠
Benign 5
- c.16-522T>C Multiple submitters
- c.16-67T>A Multiple submitters
- p.Val177Ile Single submitter WHIM syndrome
- p.Val99Met Single submitter WHIM syndrome
- c.16-636C>T No assertion criteria CXCR4-related disorder
Benign/Likely benign 7
- c.16-755G>A Multiple submitters
- p.Ala316Thr Multiple submitters WHIM syndrome
- p.Asp171Asn Multiple submitters WHIM syndrome ⚠
- p.Gly57= Multiple submitters WHIM syndrome
- p.His315= Multiple submitters WHIM syndrome
- p.Ile138= Multiple submitters WHIM syndrome
- p.Ile261= Multiple submitters WHIM syndrome
Likely benign 72
- c.16-17C>T Multiple submitters WHIM syndrome
- p.Ala98= Multiple submitters WHIM syndrome
- p.Arg148= Multiple submitters WHIM syndrome
- p.Asn176= Multiple submitters WHIM syndrome
- p.His140= Multiple submitters WHIM syndrome
- p.Ile222= Multiple submitters WHIM syndrome
- p.Ile257= Multiple submitters WHIM syndrome
- p.Ile328= Multiple submitters
- p.Lys236= Multiple submitters WHIM syndrome
- p.Thr287= Multiple submitters WHIM syndrome
- c.15+18C>T Single submitter WHIM syndrome
- c.15+7C>T Single submitter WHIM syndrome
- c.15+9A>C Single submitter WHIM syndrome
- c.16-24T>C Single submitter WHIM syndrome
- c.16-346dup Single submitter
- c.16-60del Single submitter
- c.16-653C>T Single submitter
- c.16-699G>A Single submitter
- c.16-752C>T Single submitter
- c.16-780C>T Single submitter
- c.-12C>T Single submitter
- p.Ala152= Single submitter WHIM syndrome
- p.Ala250Thr Single submitter WHIM syndrome
- p.Ala83= Single submitter WHIM syndrome
- p.Arg134= Single submitter WHIM syndrome
- p.Arg146= Single submitter WHIM syndrome
- p.Arg183= Single submitter WHIM syndrome
- p.Arg188= Single submitter WHIM syndrome
- p.Asp10= Single submitter WHIM syndrome
- p.Asp187Gly Single submitter WHIM syndrome
- p.Asp193= Single submitter WHIM syndrome
- p.Cys220= Single submitter WHIM syndrome
- p.Glu288Lys Single submitter WHIM syndrome ⚠
- p.Gly159= Single submitter WHIM syndrome
- p.Gly3Trp Single submitter WHIM syndrome
- p.Gly55= Single submitter WHIM syndrome
- p.His281= Single submitter WHIM syndrome
- p.Ile265= Single submitter WHIM syndrome
- p.Ile89= Single submitter WHIM syndrome
- p.Leu125Val Single submitter WHIM syndrome
- p.Leu151= Single submitter WHIM syndrome
- p.Leu167= Single submitter WHIM syndrome
- p.Leu208= Single submitter WHIM syndrome
- p.Leu226= Single submitter WHIM syndrome
- p.Leu266= Single submitter WHIM syndrome
- p.Leu290= Single submitter WHIM syndrome
- p.Leu85= Single submitter WHIM syndrome
- p.Leu91= Single submitter WHIM syndrome
- p.Lys308= Single submitter
- p.Phe249= Single submitter WHIM syndrome
- p.Phe29= Single submitter WHIM syndrome
- p.Phe304= Single submitter WHIM syndrome
- p.Pro163= Single submitter WHIM syndrome
- p.Pro170= Single submitter WHIM syndrome
- p.Ser263= Single submitter WHIM syndrome
- p.Ser263Pro Single submitter ⚠
- p.Ser319= Single submitter WHIM syndrome
- p.Ser344= Single submitter WHIM syndrome
- p.Thr13= Single submitter WHIM syndrome
- p.Thr168= Single submitter WHIM syndrome
- p.Thr311= Single submitter WHIM syndrome
- p.Thr342= Single submitter WHIM syndrome
- p.Thr90= Single submitter WHIM syndrome
- p.Tyr121= Single submitter WHIM syndrome
- p.Tyr184= Single submitter WHIM syndrome
- p.Tyr76= Single submitter WHIM syndrome
- p.Tyr7His Single submitter WHIM syndrome
- p.Val114= Single submitter WHIM syndrome
- p.Val158Ala Single submitter WHIM syndrome
- p.Val206= Single submitter WHIM syndrome
- p.Val62Ile Single submitter WHIM syndrome
- p.Val99Glu Single submitter WHIM syndrome ⚠
Uncertain significance 102
- p.Arg134Cys Multiple submitters WHIM syndrome ⚠
- p.Arg334Gln Multiple submitters WHIM syndrome ⚠
- p.Asn37Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp10Val Multiple submitters WHIM syndrome ⚠
- p.Gly159Ser Multiple submitters WHIM syndrome ⚠
- p.Ile243Leu Multiple submitters WHIM syndrome ⚠
- p.Leu132Val Multiple submitters WHIM syndrome ⚠
- p.Leu86Phe Multiple submitters CXCR4-related disorder
- p.Phe172Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe249Leu Multiple submitters WHIM syndrome ⚠
- p.Ser18Leu Multiple submitters WHIM syndrome ⚠
- p.Ser325Gly Multiple submitters WHIM syndrome ⚠
- p.Ser46Cys Multiple submitters WHIM syndrome ⚠
- p.Thr90Met Multiple submitters WHIM syndrome ⚠
- p.Trp195Ter Multiple submitters WHIM syndrome
- p.Ala141Val Single submitter CXCR4-related disorder ⚠
- p.Ala164Ser Single submitter Inborn genetic diseases ⚠
- p.Ala289Thr Single submitter WHIM syndrome
- p.Ala291Thr Single submitter WHIM syndrome ⚠
- p.Arg146Lys Single submitter WHIM syndrome ⚠
- p.Arg188His Single submitter WHIM syndrome ⚠
- p.Arg235Cys Single submitter WHIM syndrome ⚠
- p.Arg30His Single submitter WHIM syndrome ⚠
- p.Arg322Gly Single submitter WHIM syndrome ⚠
- p.Arg334Pro Single submitter WHIM syndrome
- p.Asn101Lys Single submitter WHIM syndrome ⚠
- p.Asn119Ser Single submitter WHIM syndrome 1 ⚠
- p.Asn278Ser Single submitter WHIM syndrome ⚠
- p.Asn33Ile Single submitter Inborn genetic diseases ⚠
- p.Asn35Asp Single submitter WHIM syndrome ⚠
- p.Asn37Asp Single submitter WHIM syndrome ⚠
- p.Asp22His Single submitter WHIM syndrome ⚠
- p.Asp262Asn Single submitter WHIM syndrome
- p.Asp262Glu Single submitter
- p.Asp84Asn Single submitter WHIM syndrome ⚠
- p.Cys218Ser Single submitter WHIM syndrome ⚠
- p.Cys220Arg Single submitter Inborn genetic diseases ⚠
- p.Cys251Phe Single submitter WHIM syndrome ⚠
- p.Cys251Ser Single submitter ⚠
- p.Cys295Tyr Single submitter WHIM syndrome ⚠
- p.Gln233Ter Single submitter
- p.Gln272Ter Single submitter WHIM syndrome
- p.Glu153Ala Single submitter WHIM syndrome ⚠
- p.Glu268Asp Single submitter WHIM syndrome ⚠
- p.Glu277Asp Single submitter WHIM syndrome ⚠
- p.Glu2Gly Single submitter WHIM syndrome ⚠
- p.Glu32Ala Single submitter WHIM syndrome ⚠
- p.Gly17Asp Single submitter WHIM syndrome ⚠
- p.Gly17Val Single submitter WHIM syndrome ⚠
- p.Gly306Ala Single submitter ⚠
- p.Gly323Arg Single submitter WHIM syndrome ⚠
- p.His113Pro Single submitter WHIM syndrome ⚠
- p.His232Arg Single submitter WHIM syndrome ⚠
- p.His232Pro Single submitter ⚠
- p.His294Arg Single submitter WHIM syndrome ⚠
- p.His315Asp Single submitter WHIM syndrome ⚠
- p.His337Gln Single submitter WHIM syndrome ⚠
- p.His79Tyr Single submitter WHIM syndrome ⚠
- p.Ile115Met Single submitter WHIM syndrome ⚠
- p.Ile173Thr Single submitter WHIM syndrome
- p.Ile221Leu Single submitter WHIM syndrome ⚠
- p.Ile243fs Single submitter
- p.Ile261Met Single submitter WHIM syndrome ⚠
- p.Ile286Asn Single submitter WHIM syndrome 1 ⚠
- p.Ile328Val Single submitter WHIM syndrome ⚠
- p.Ile39Thr Single submitter WHIM syndrome ⚠
- p.Ile4Val Single submitter WHIM syndrome ⚠
- p.Leu165Phe Single submitter WHIM syndrome ⚠
- p.Leu301Phe Single submitter Inborn genetic diseases ⚠
- p.Lys310Glu Single submitter WHIM syndrome ⚠
- p.Lys75fs Single submitter WHIM syndrome
- p.Met24Val Single submitter WHIM syndrome ⚠
- p.Met72Val Single submitter WHIM syndrome ⚠
- p.Phe276Ile Single submitter ⚠
- p.Phe293Tyr Single submitter WHIM syndrome ⚠
- p.Phe40Val Single submitter Inborn genetic diseases ⚠
- p.Phe93Ser Single submitter WHIM syndrome ⚠
- p.Ser122Asn Single submitter WHIM syndrome ⚠
- p.Ser131Ile Single submitter WHIM syndrome 1 ⚠
- p.Ser217Tyr Single submitter WHIM syndrome ⚠
- p.Ser229Thr Single submitter WHIM syndrome ⚠
- p.Ser341Tyr Single submitter WHIM syndrome
- p.Ser348Gly Single submitter WHIM syndrome ⚠
- p.Ser352Gly Single submitter WHIM syndrome ⚠
- p.Ser5Gly Single submitter WHIM syndrome ⚠
- p.Thr117Arg Single submitter WHIM syndrome ⚠
- p.Thr13Ala Single submitter WHIM syndrome ⚠
- p.Thr43Ala Single submitter WHIM syndrome ⚠
- p.Trp102Ter Single submitter WHIM syndrome
- p.Trp283Cys Single submitter ⚠
- p.Trp94Ter Single submitter WHIM syndrome
- p.Tyr184Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr45fs Single submitter WHIM syndrome
- p.Val139Ile Single submitter WHIM syndrome ⚠
- p.Val160Ile Single submitter WHIM syndrome ⚠
- p.Val177Leu Single submitter WHIM syndrome ⚠
- p.Val197Ile Single submitter WHIM syndrome ⚠
- p.Val198fs Single submitter WHIM syndrome
- p.Val320Leu Single submitter Inborn genetic diseases ⚠
- p.Val59Ile Single submitter WHIM syndrome 1 ⚠
- p.Val96Gly Single submitter ⚠
- c.16-703G>A No assertion criteria CXCR4-related disorder