RBP4 — 219 ClinVar variants
All ClinVar germline RBP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
8 Pathogenic · 12 Likely pathogenic · 10 Conflicting · 17 Benign · 75 Likely benign · 97 Uncertain significance
Full RBP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RBP4 p.Gln182Lys
Conflicting
Single submitter
Inborn genetic diseases
-
RBP4 p.Glu176Asp
Conflicting
Single submitter
Inborn genetic diseases
-
RBP4 p.Ile169Val
Conflicting
Single submitter
Inborn genetic diseases
- RBP4 p.Ser15Gly Conflicting Single submitter
-
RBP4 p.Tyr132Asn
Conflicting
Single submitter
Unilateral microphthalmos
-
RBP4 p.Val134Leu
Conflicting
Single submitter
Inborn genetic diseases
- RBP4 p.Val187Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBP4 p.Ala6Val Uncertain significance Multiple submitters
-
RBP4 p.Arg37Gly
Uncertain significance
Multiple submitters
progressive retinal dystrophy due to retinol transport defect
-
RBP4 p.Asn189Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RBP4 p.Asp130Asn Uncertain significance Multiple submitters
-
RBP4 p.Asp193Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RBP4 p.Asp86Val Uncertain significance Multiple submitters
- RBP4 p.Glu99Lys Uncertain significance Multiple submitters
-
RBP4 p.Gly161Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RBP4 p.Leu53Val Uncertain significance Multiple submitters
-
RBP4 p.Leu8Phe
Uncertain significance
Multiple submitters
progressive retinal dystrophy due to retinol transport defect
-
RBP4 p.Met45Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RBP4 p.Thr41Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RBP4 p.Tyr108Cys Uncertain significance Multiple submitters
- RBP4 p.Val111Ile Uncertain significance Multiple submitters
-
RBP4 p.Val134Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RBP4 p.Ala11Val Uncertain significance Single submitter
- RBP4 p.Ala166Val Uncertain significance Single submitter
- RBP4 p.Arg157Gln Uncertain significance Single submitter
- RBP4 p.Arg157Trp Uncertain significance Single submitter
- RBP4 p.Arg173Gln Uncertain significance Single submitter
- RBP4 p.Arg181Trp Uncertain significance Single submitter
-
RBP4 p.Arg198Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Arg80Cys Uncertain significance Single submitter
- RBP4 p.Asn119Ser Uncertain significance Single submitter
-
RBP4 p.Asn142Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBP4 p.Asn142Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Asn32Asp Uncertain significance Single submitter
- RBP4 p.Asn58Asp Uncertain significance Single submitter
- RBP4 p.Asp126Asn Uncertain significance Single submitter
-
RBP4 p.Asp158Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Asp57Val Uncertain significance Single submitter
- RBP4 p.Asp66Asn Uncertain significance Single submitter
- RBP4 p.Cys147Trp Uncertain significance Single submitter
-
RBP4 p.Cys178Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Gln70Glu Uncertain significance Single submitter
- RBP4 p.Glu175Lys Uncertain significance Single submitter
-
RBP4 p.Glu19Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Glu62Lys Uncertain significance Single submitter
- RBP4 p.Glu67Asp Uncertain significance Single submitter
- RBP4 p.Glu67Lys Uncertain significance Single submitter
- RBP4 p.Gly14Asp Uncertain significance Single submitter
- RBP4 p.Gly190Ser Uncertain significance Single submitter
- RBP4 p.Ile169Phe Uncertain significance Single submitter
-
RBP4 p.Leu13Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBP4 p.Leu7Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Met45Leu Uncertain significance Single submitter
- RBP4 p.Pro163Ser Uncertain significance Single submitter
-
RBP4 p.Pro164Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Pro164Ser Uncertain significance Single submitter
- RBP4 p.Ser156Phe Uncertain significance Single submitter
- RBP4 p.Ser15Asn Uncertain significance Single submitter
-
RBP4 p.Thr74Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Trp123Cys Uncertain significance Single submitter
- RBP4 p.Trp42Cys Uncertain significance Single submitter
- RBP4 p.Tyr151Cys Uncertain significance Single submitter
- RBP4 p.Tyr151Ser Uncertain significance Single submitter
- RBP4 p.Val125Ile Uncertain significance Single submitter
- RBP4 p.Val134Glu Uncertain significance Single submitter
-
RBP4 p.Val170Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Val65Leu Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
-
RBP4 p.Arg173Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RBP4 p.Arg20Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RBP4 p.Asp158Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RBP4 p.Gly93Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RBP4 p.Met71Ile Uncertain significance Multiple submitters
-
RBP4 p.Pro101His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RBP4 p.Trp5Arg Uncertain significance Multiple submitters
-
RBP4 p.Ala112Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBP4 p.Ala73Thr
Pathogenic
Single submitter
Bilateral microphthalmos
-
RBP4 p.Ala73Val
Likely pathogenic
Single submitter
Anophthalmia
- RBP4 p.Ala75Asp Uncertain significance Single submitter
-
RBP4 p.Ala75Thr
Likely pathogenic
Single submitter
Inborn genetic diseases
- RBP4 p.Arg37Leu Uncertain significance Single submitter
- RBP4 p.Asp128Asn Uncertain significance Single submitter
- RBP4 p.Asp66Glu Uncertain significance Single submitter
- RBP4 p.Gln116His Uncertain significance Single submitter
- RBP4 p.Gly161Ser Uncertain significance Single submitter
- RBP4 p.Gly69Asp Uncertain significance Single submitter
- RBP4 p.Gly93Val Uncertain significance Single submitter
- RBP4 p.His188Arg Uncertain significance Single submitter
-
RBP4 p.Ile59Asn
Conflicting
Single submitter
progressive retinal dystrophy due to retinol transport defect
-
RBP4 p.Met91Val
Conflicting
Single submitter
microphthalmia
- RBP4 p.Pro101Leu Uncertain significance Single submitter
- RBP4 p.Pro101Thr Uncertain significance Single submitter
- RBP4 p.Pro50Thr Uncertain significance Single submitter
- RBP4 p.Thr131Lys Uncertain significance Single submitter
- RBP4 p.Thr131Met Uncertain significance Single submitter
-
RBP4 p.Val24Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RBP4 p.Val24Met Uncertain significance Single submitter
- RBP4 p.Val29Leu Uncertain significance Single submitter
All RBP4 variants
Pathogenic 8
- c.111+1G>A Single submitter RBP4-related disorder
- c.111+1G>C Single submitter
- c.112-2A>G Single submitter RBP4-related disorder
- p.Ala73Thr Single submitter Bilateral microphthalmos ⚠
- p.Arg23Ter Single submitter
- p.Glu176Ter Single submitter progressive retinal dystrophy due to retinol transport defect
- p.Tyr108_Lys117delinsTer Single submitter
- p.Tyr43Ter Single submitter
Likely pathogenic 12
- p.Gly93Asp Multiple submitters RBP4-related disorder
- c.244_248+2del Single submitter
- c.355+1G>A Single submitter
- c.569-1G>A Single submitter microphthalmia, isolated, with coloboma 10
- p.Ala73Val Single submitter Anophthalmia ⚠
- p.Ala75Thr Single submitter Inborn genetic diseases ⚠
- p.Asp120His Single submitter coloboma
- p.Asp120Tyr Single submitter Bilateral microphthalmos
- p.Asp128Gly Single submitter anterior segment dysgenesis
- p.Gly118Glu Single submitter
- c.248+1G>A No assertion criteria Abnormality of the eye
- p.Leu13fs No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 10
- p.Asn189= Single submitter
- p.Gln182Lys Single submitter Inborn genetic diseases ⚠
- p.Glu176Asp Single submitter Inborn genetic diseases ⚠
- p.Ile169Val Single submitter Inborn genetic diseases ⚠
- p.Ile59Asn Single submitter progressive retinal dystrophy due to retinol transport defect ⚠
- p.Met91Val Single submitter microphthalmia ⚠
- p.Ser15Gly Single submitter ⚠
- p.Tyr132Asn Single submitter Unilateral microphthalmos ⚠
- p.Val134Leu Single submitter Inborn genetic diseases ⚠
- p.Val187Ile Single submitter ⚠
Benign 17
- c.111+25G>A Multiple submitters
- c.112-44G>C Multiple submitters
- c.248+13C>T Multiple submitters
- c.248+28C>G Multiple submitters
- c.248+44T>C Multiple submitters
- c.355+123T>G Multiple submitters progressive retinal dystrophy due to retinol transport defect
- c.355+182C>G Multiple submitters
- c.355+41G>C Multiple submitters
- c.355+91G>A Multiple submitters
- c.356-25G>C Multiple submitters microphthalmia, isolated, with coloboma 10
- c.568+67C>T Multiple submitters
- c.568+92G>A Multiple submitters
- c.569-81T>C Multiple submitters
- c.-55T>G Multiple submitters
- p.Thr127= Multiple submitters
- c.355+212G>A Single submitter
- c.-18-44_-18-43insCC Single submitter
Likely benign 75
- c.111+20G>A Multiple submitters
- c.248+14G>A Multiple submitters
- c.248+17G>A Multiple submitters
- p.Ala133= Multiple submitters
- p.Ala148= Multiple submitters
- p.Asn160= Multiple submitters
- p.Asp66= Multiple submitters
- p.Asp86= Multiple submitters
- p.Cys192= Multiple submitters
- p.Cys88= Multiple submitters
- p.Gly52= Multiple submitters
- p.Ile186= Multiple submitters
- p.Lys47= Multiple submitters
- p.Phe155= Multiple submitters
- p.Ser113= Multiple submitters
- p.Thr131= Multiple submitters
- p.Thr98= Multiple submitters
- p.Tyr129= Multiple submitters
- p.Tyr136= Multiple submitters
- p.Val111= Multiple submitters
- c.111+11G>A Single submitter
- c.111+13C>T Single submitter
- c.111+18G>A Single submitter
- c.111+19G>A Single submitter
- c.111+20G>T Single submitter
- c.112-18C>T Single submitter
- c.112-29_112-18del Single submitter
- c.112-8_112-6del Single submitter
- c.248+7G>A Single submitter
- c.248+8G>A Single submitter
- c.249-14C>T Single submitter
- c.249-15C>T Single submitter
- c.249-18T>A Single submitter
- c.355+10C>G Single submitter
- c.355+19G>T Single submitter
- c.355+8G>T Single submitter
- c.355+9T>A Single submitter
- c.356-14T>A Single submitter
- c.568+10G>A Single submitter
- c.568+20C>T Single submitter
- c.568+7C>A Single submitter
- c.569-10dup Single submitter
- c.-19+26G>A Single submitter
- c.-7G>A Single submitter
- p.Ala12= Single submitter
- p.Ala166= Single submitter
- p.Ala44= Single submitter
- p.Ala73= Single submitter
- p.Ala75= Single submitter
- p.Arg157= Single submitter
- p.Arg181= Single submitter
- p.Arg20= Single submitter
- p.Arg23= Single submitter
- p.Asp34= Single submitter
- p.Asp57= Single submitter
- p.Gln135= Single submitter
- p.Glu175= Single submitter
- p.Ile124= Single submitter
- p.Ile169= Single submitter
- p.Leu141= Single submitter
- p.Leu143= Single submitter
- p.Leu177= Single submitter
- p.Leu9= Single submitter
- p.Phe153= Single submitter
- p.Phe33= Single submitter
- p.Pro101= Single submitter
- p.Ser196= Single submitter
- p.Ser26= Single submitter
- p.Ser64= Single submitter
- p.Thr16= Single submitter
- p.Tyr183= Single submitter
- p.Val125= Single submitter
- p.Val134= Single submitter
- p.Val170= Single submitter
- p.Val29= Single submitter
Uncertain significance 97
- p.Ala6Val Multiple submitters ⚠
- p.Arg173Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg20Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg37Gly Multiple submitters progressive retinal dystrophy due to retinol transport defect ⚠
- p.Asn189Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp130Asn Multiple submitters ⚠
- p.Asp158Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp193Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp86Val Multiple submitters ⚠
- p.Glu99Lys Multiple submitters ⚠
- p.Gly161Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly93Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu53Val Multiple submitters ⚠
- p.Leu8Phe Multiple submitters progressive retinal dystrophy due to retinol transport defect ⚠
- p.Met45Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met71Ile Multiple submitters ⚠
- p.Pro101His Multiple submitters Inborn genetic diseases ⚠
- p.Thr41Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr98Asn Multiple submitters Inborn genetic diseases
- p.Trp5Arg Multiple submitters ⚠
- p.Tyr108Cys Multiple submitters ⚠
- p.Val111Ile Multiple submitters ⚠
- p.Val134Met Multiple submitters Inborn genetic diseases ⚠
- c.111+5G>A Single submitter
- c.111+5G>T Single submitter
- c.248+3C>A Single submitter
- c.568+5G>C Single submitter
- c.568+5G>T Single submitter
- p.Ala112Val Single submitter Inborn genetic diseases ⚠
- p.Ala11Val Single submitter ⚠
- p.Ala166Val Single submitter ⚠
- p.Ala75Asp Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg157Trp Single submitter ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg181Trp Single submitter ⚠
- p.Arg198Gly Single submitter Inborn genetic diseases ⚠
- p.Arg23Gly Single submitter
- p.Arg37= Single submitter
- p.Arg37Leu Single submitter ⚠
- p.Arg80Cys Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Asn142Asp Single submitter Inborn genetic diseases ⚠
- p.Asn142Ser Single submitter Inborn genetic diseases ⚠
- p.Asn32Asp Single submitter ⚠
- p.Asn58Asp Single submitter ⚠
- p.Asp126Asn Single submitter ⚠
- p.Asp128Asn Single submitter ⚠
- p.Asp158Glu Single submitter Inborn genetic diseases ⚠
- p.Asp57Val Single submitter ⚠
- p.Asp66Asn Single submitter ⚠
- p.Asp66Glu Single submitter ⚠
- p.Cys147Trp Single submitter ⚠
- p.Cys178Ser Single submitter Inborn genetic diseases ⚠
- p.Gln116His Single submitter ⚠
- p.Gln70Glu Single submitter ⚠
- p.Glu175Lys Single submitter ⚠
- p.Glu19Gln Single submitter Inborn genetic diseases ⚠
- p.Glu62Lys Single submitter ⚠
- p.Glu67Asp Single submitter ⚠
- p.Glu67Lys Single submitter ⚠
- p.Gly14Asp Single submitter ⚠
- p.Gly161Ser Single submitter ⚠
- p.Gly190Ser Single submitter ⚠
- p.Gly69Asp Single submitter ⚠
- p.Gly93Val Single submitter ⚠
- p.His188Arg Single submitter ⚠
- p.Ile169Phe Single submitter ⚠
- p.Leu13Val Single submitter Inborn genetic diseases ⚠
- p.Leu179fs Single submitter
- p.Leu7Phe Single submitter Inborn genetic diseases ⚠
- p.Met106Leu Single submitter
- p.Met1Thr Single submitter
- p.Met45Leu Single submitter ⚠
- p.Pro101Leu Single submitter ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro163Ser Single submitter ⚠
- p.Pro164Arg Single submitter Inborn genetic diseases ⚠
- p.Pro164Ser Single submitter ⚠
- p.Pro50Thr Single submitter ⚠
- p.Ser156Phe Single submitter ⚠
- p.Ser15Asn Single submitter ⚠
- p.Ser196Ter Single submitter
- p.Thr131Lys Single submitter ⚠
- p.Thr131Met Single submitter ⚠
- p.Thr74Ser Single submitter Inborn genetic diseases ⚠
- p.Trp123Cys Single submitter ⚠
- p.Trp42Cys Single submitter ⚠
- p.Tyr151Cys Single submitter ⚠
- p.Tyr151Ser Single submitter ⚠
- p.Val125Ile Single submitter ⚠
- p.Val134Glu Single submitter ⚠
- p.Val170Ile Single submitter Inborn genetic diseases ⚠
- p.Val24Leu Single submitter Inborn genetic diseases ⚠
- p.Val24Met Single submitter ⚠
- p.Val29Leu Single submitter ⚠
- p.Val65Leu Single submitter ⚠