RARB — 155 ClinVar variants

All ClinVar germline RARB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

7 Pathogenic · 5 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 4 Conflicting · 22 Benign · 2 Benign/Likely benign · 31 Likely benign · 66 Uncertain significance

Full RARB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All RARB variants

Pathogenic 7

c.1151-1G>C Single submitter coloboma
p.Arg387Leu Single submitter
p.Ile389fs Single submitter microphthalmia, syndromic 12
p.Trp218Cys Single submitter microphthalmia
p.Arg119Ter No assertion criteria microphthalmia, syndromic 12
p.Arg387Ser No assertion criteria microphthalmia, syndromic 12
p.Ile403fs No assertion criteria microphthalmia, syndromic 12

Pathogenic/Likely pathogenic 5

p.Arg387Cys Multiple submitters RARB-related disorder
p.Gln404Ter Multiple submitters microphthalmia, syndromic 12
p.Gly282Ser Multiple submitters microphthalmia, syndromic 12
p.Leu213Pro Multiple submitters intellectual disability, autosomal dominant 48
p.Ser398Ter Multiple submitters microphthalmia, syndromic 12

Likely pathogenic 18

p.Gly384Asp Multiple submitters microphthalmia, syndromic 12
p.Leu407Pro Multiple submitters Inborn genetic diseases
p.Ala225Asp Single submitter microphthalmia, syndromic 12
p.Arg185Ter Single submitter
p.Asp208_Arg212delinsGlu Single submitter microphthalmia
p.Asp214Tyr Single submitter microphthalmia, syndromic 12
p.Asp281Val Single submitter microphthalmia, syndromic 12
p.Gln250Arg Single submitter
p.Gly103Cys Single submitter microphthalmia
p.Gly282Cys Single submitter RARB-related disorder
p.Gly294Val Single submitter microphthalmia, syndromic 12
p.Gly296Ala Single submitter microphthalmia, syndromic 12
p.His291Leu Single submitter microphthalmia, syndromic 12
p.Leu402fs Single submitter microphthalmia, syndromic 12
p.Leu402Pro Single submitter microphthalmia
p.Phe279Val Single submitter microphthalmia, syndromic 12
p.Pro400Leu Single submitter microphthalmia, syndromic 12
p.Glu394Ter No assertion criteria microphthalmia, syndromic 12

Conflicting classifications of pathogenicity 4

p.Arg137Gln Single submitter microphthalmia, syndromic 12
p.Cys228Tyr Single submitter Paediatric disorders
p.Ser88= Single submitter microphthalmia, syndromic 12
p.Thr417Ser Single submitter Inborn genetic diseases

Benign 22

c.306+19G>A Multiple submitters microphthalmia, syndromic 12
c.306+37T>G Multiple submitters
c.307-102G>A Multiple submitters
c.449-97A>G Multiple submitters
c.992-98A>C Multiple submitters
p.Ala385= Multiple submitters microphthalmia, syndromic 12
p.Gly90= Multiple submitters microphthalmia, syndromic 12
c.1150+175A>C Single submitter
c.1150+176del Single submitter
c.1150+176dup Single submitter
c.1151-159T>C Single submitter
c.157+207C>T Single submitter
c.158-188C>T Single submitter
c.158-9C>G Single submitter microphthalmia, syndromic 12
c.307-85A>G Single submitter
c.609+64AC[15] Single submitter
c.609+64AC[16] Single submitter
c.609+64AC[18] Single submitter
c.609+64AC[19] Single submitter
c.991+11T>C Single submitter microphthalmia, syndromic 12
p.Asn307Thr Single submitter microphthalmia, syndromic 12
p.Gly320= Single submitter microphthalmia, syndromic 12

Benign/Likely benign 2

p.Ala256= Multiple submitters microphthalmia, syndromic 12
p.Ser439Thr Multiple submitters microphthalmia, syndromic 12

Likely benign 31

c.158-15C>A Multiple submitters microphthalmia, syndromic 12
c.1151-6G>C Single submitter microphthalmia, syndromic 12
c.158-7A>G Single submitter microphthalmia, syndromic 12
c.178+15A>G Single submitter
c.306+15T>A Single submitter microphthalmia, syndromic 12
c.306+7A>G Single submitter microphthalmia, syndromic 12
c.449-8G>A Single submitter microphthalmia, syndromic 12
c.787-13T>G Single submitter
c.787-18A>G Single submitter microphthalmia, syndromic 12
c.787-8C>T Single submitter
c.991+10A>G Single submitter microphthalmia, syndromic 12
p.Ala248Thr Single submitter Inborn genetic diseases
p.Ala32Gly Single submitter Inborn genetic diseases
p.Ala7Val Single submitter intellectual disability
p.Arg378= Single submitter
p.Asp281= Single submitter microphthalmia, syndromic 12
p.Glu346= Single submitter microphthalmia, syndromic 12
p.Ile232= Single submitter
p.Ile247= Single submitter microphthalmia, syndromic 12
p.Ile389Val Single submitter Inborn genetic diseases
p.Leu348= Single submitter
p.Lys353= Single submitter
p.Phe82= Single submitter
p.Pro26Arg Single submitter
p.Pro429= Single submitter
p.Pro69= Single submitter
p.Pro74= Single submitter microphthalmia, syndromic 12
p.Ser96= Single submitter microphthalmia, syndromic 12
p.Thr203Met Single submitter Inborn genetic diseases
p.Val77= Single submitter
c.*4A>G No assertion criteria RARB-related disorder

Uncertain significance 66

p.Arg137Ter Multiple submitters microphthalmia, syndromic 12
p.Asp281Tyr Multiple submitters microphthalmia, syndromic 12
p.Gly216Ser Multiple submitters Inborn genetic diseases
p.Thr284Ile Multiple submitters microphthalmia, syndromic 12
p.Thr50Ala Multiple submitters Inborn genetic diseases
c.157+1895G>A Single submitter microphthalmia, syndromic 12
c.158-1G>A Single submitter microphthalmia, syndromic 12
p.Ala225Val Single submitter
p.Ala248Ser Single submitter
p.Arg119Gln Single submitter Inborn genetic diseases
p.Arg132Ter Single submitter
p.Arg212Ter Single submitter microphthalmia, syndromic 12
p.Arg269Thr Single submitter microphthalmia, syndromic 12
p.Arg360Gln Single submitter Inborn genetic diseases
p.Arg76fs Single submitter microphthalmia, syndromic 12
p.Asp219fs Single submitter
p.Asp331His Single submitter
p.Cys141Phe Single submitter
p.Cys228Phe Single submitter microphthalmia, syndromic 12
p.Cys329Tyr Single submitter intellectual disability, autosomal dominant 48
p.Cys98Ter Single submitter microphthalmia, syndromic 12
p.Gln14Glu Single submitter Inborn genetic diseases
p.Gln404Pro Single submitter microphthalmia, syndromic 12
p.Gln448Ter Single submitter
p.Glu182Gly Single submitter microphthalmia, syndromic 12
p.Glu394fs Single submitter
p.Glu426fs Single submitter
p.Gly282Val Single submitter Inborn genetic diseases
p.Gly294Arg Single submitter
p.Gly296Val Single submitter
p.Gly440Arg Single submitter Inborn genetic diseases
p.Gly90Glu Single submitter
p.His291Pro Single submitter
p.Ile370Val Single submitter
p.Ile374Thr Single submitter
p.Leu215Pro Single submitter
p.Leu283Pro Single submitter
p.Leu283Val Single submitter
p.Leu285Pro Single submitter
p.Leu321Ile Single submitter Inborn genetic diseases
p.Leu377Arg Single submitter
p.Leu391Phe Single submitter
p.Leu44fs Single submitter RARB-related disorder
p.Leu44Val Single submitter RARB-related disorder
p.Lys220Asn Single submitter Inborn genetic diseases
p.Met366Thr Single submitter Inborn genetic diseases
p.Phe105fs Single submitter
p.Phe279Ser Single submitter microphthalmia, syndromic 12
p.Pro240Leu Single submitter microphthalmia, syndromic 12
p.Pro400Ala Single submitter microphthalmia, syndromic 12
p.Pro400fs Single submitter
p.Pro433Arg Single submitter Inborn genetic diseases
p.Pro69fs Single submitter
p.Pro75His Single submitter Inborn genetic diseases
p.Ser170Gly Single submitter
p.Ser362Arg Single submitter
p.Ser381Gly Single submitter Inborn genetic diseases
p.Ser410Tyr Single submitter
p.Ser60Arg Single submitter
p.Thr246Ser Single submitter Inborn genetic diseases
p.Thr284Asn Single submitter
p.Thr299Ala Single submitter
p.Tyr201Cys Single submitter microphthalmia, syndromic 12
p.Ala12Val No assertion criteria RARB-related disorder
p.Glu234Asp No assertion criteria RARB-related disorder
p.Glu394Gly No assertion criteria microphthalmia, syndromic 12