MRTFB — 161 ClinVar variants

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

3 Pathogenic · 1 Likely pathogenic · 4 Benign · 1 Benign/Likely benign · 12 Likely benign · 140 Uncertain significance

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

All MRTFB variants

Pathogenic 3

p.Ala91Pro Single submitter MRTFB-related disorder
p.Arg104= No assertion criteria MRTFB-related disorder
p.Arg104Gly No assertion criteria MRTFB-related disorder

Likely pathogenic 1

p.Leu160Pro Single submitter MKL2-related disorders

Benign 4

p.Ser643= Multiple submitters
p.Thr9= Multiple submitters
p.Cys647Arg Single submitter
p.His288Gln Single submitter

Benign/Likely benign 1

p.Asn47= Multiple submitters

Likely benign 12

p.Ala1042Val Single submitter
p.Ala660Thr Single submitter
p.Ala877Thr Single submitter
p.Asn492Ser Single submitter
p.Leu481Phe Single submitter
p.Pro1081= Single submitter
p.Pro789= Single submitter
p.Ser439= Single submitter
p.Ser924= Single submitter
p.Thr238Ala Single submitter
p.Thr770Ala Single submitter
p.Val665Ile Single submitter

Uncertain significance 140

c.693+1G>T Single submitter
p.Ala1080Val Single submitter
p.Ala138Glu Single submitter MRTFB-related neurodevelopmental disorder
p.Ala17Thr Single submitter
p.Ala20Ser Single submitter
p.Ala230Val Single submitter
p.Ala442Gly Single submitter
p.Ala443Ser Single submitter
p.Ala448Gly Single submitter
p.Ala620Val Single submitter
p.Ala677Pro Single submitter
p.Ala6Val Single submitter
p.Ala754Thr Single submitter
p.Ala822Thr Single submitter
p.Ala888Val Single submitter
p.Ala963Val Single submitter
p.Arg255Trp Single submitter
p.Arg289His Single submitter
p.Arg328His Single submitter
p.Arg495Cys Single submitter
p.Arg495Ser Single submitter
p.Arg607Gln Single submitter
p.Arg607Gly Single submitter
p.Arg612Gln Single submitter
p.Arg800Gly Single submitter
p.Arg884Cys Single submitter
p.Arg884Gly Single submitter
p.Arg884Ser Single submitter
p.Arg893His Single submitter
p.Asn227Asp Single submitter
p.Asn492Lys Single submitter
p.Asn521Asp Single submitter
p.Asn548Asp Single submitter
p.Asn805Lys Single submitter
p.Asn810Asp Single submitter
p.Asn904Ser Single submitter
p.Asn904Thr Single submitter
p.Asp106Glu Single submitter
p.Asp1093Glu Single submitter
p.Asp184Asn Single submitter
p.Asp286Ala Single submitter
p.Asp2Tyr Single submitter
p.Asp323Glu Single submitter
p.Asp524His Single submitter
p.Cys293Phe Single submitter
p.Gln182Glu Single submitter
p.Gln203His Single submitter
p.Gln307His Single submitter
p.Gln340His Single submitter
p.Gln347Glu Single submitter
p.Gln697Arg Single submitter
p.Gln837His Single submitter
p.Glu1007Gln Single submitter
p.Glu1013Lys Single submitter
p.Glu1060Lys Single submitter
p.Glu176Asp Single submitter
p.Glu34Asp Single submitter
p.Glu511Lys Single submitter
p.Glu528Lys Single submitter
p.Glu615Gln Single submitter
p.Glu886Asp Single submitter
p.Gly440Ser Single submitter
p.Gly445Cys Single submitter
p.Gly632Asp Single submitter
p.His500Asn Single submitter
p.His906Pro Single submitter
p.Ile446Val Single submitter
p.Ile505Leu Single submitter
p.Ile529Met Single submitter
p.Ile7Thr Single submitter
p.Ile916Val Single submitter
p.Ile923Met Single submitter
p.Ile934Val Single submitter
p.Leu1019Arg Single submitter
p.Leu1049Val Single submitter
p.Leu1073Pro Single submitter
p.Leu560Val Single submitter
p.Leu644Phe Single submitter
p.Leu846Pro Single submitter
p.Lys423Thr Single submitter MRTFB-related neurodevelopmental disorder
p.Met1083Thr Single submitter
p.Met1083Val Single submitter
p.Met522Arg Single submitter
p.Met522Val Single submitter
p.Met533Val Single submitter
p.Met600Ile Single submitter
p.Met971Leu Single submitter
p.Met971Val Single submitter
p.Phe1040Cys Single submitter
p.Pro254Arg Single submitter
p.Pro254Gln Single submitter
p.Pro284Ser Single submitter
p.Pro358Ser Single submitter
p.Pro424Leu Single submitter
p.Pro487Leu Single submitter
p.Pro535Ser Single submitter
p.Pro779Leu Single submitter
p.Pro796Leu Single submitter
p.Pro826Ser Single submitter
p.Pro842Leu Single submitter
p.Pro850Arg Single submitter
p.Pro859Thr Single submitter
p.Pro860Leu Single submitter
p.Pro931Ala Single submitter
p.Pro939Arg Single submitter
p.Pro957Leu Single submitter
p.Ser192del Single submitter MRTFB-related neurodevelopmental disorder
p.Ser211Thr Single submitter
p.Ser218Arg Single submitter
p.Ser220Leu Single submitter
p.Ser39Tyr Single submitter
p.Ser477Ala Single submitter
p.Ser501Cys Single submitter
p.Ser506Leu Single submitter
p.Ser510Cys Single submitter
p.Ser534Leu Single submitter
p.Ser536Leu Single submitter
p.Ser637Phe Single submitter
p.Ser649Arg Single submitter
p.Ser693Asn Single submitter
p.Ser932Phe Single submitter
p.Ser975Pro Single submitter
p.Thr473Asn Single submitter
p.Thr480Ile Single submitter
p.Thr525Ser Single submitter
p.Thr559Ile Single submitter
p.Thr804Ile Single submitter
p.Thr895Ile Single submitter
p.Val13Met Single submitter
p.Val166= Single submitter
p.Val28Met Single submitter
p.Val478Ile Single submitter
p.Val496Met Single submitter
p.Val499Ile Single submitter
p.Val595Met Single submitter
p.Val656Ala Single submitter
p.Val866Phe Single submitter
p.Val867Ile Single submitter
p.His18Leu No assertion criteria MRTFB-related disorder
p.Thr228Ser No assertion criteria MRTFB-related disorder