RBFOX2 — 118 ClinVar variants
All ClinVar germline RBFOX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
3 Pathogenic · 2 Likely pathogenic · 11 Benign · 39 Likely benign · 63 Uncertain significance
Full RBFOX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll RBFOX2 variants
Pathogenic 3
- p.Lys221Arg Single submitter
- p.Ser175fs Single submitter Inborn genetic diseases
- p.Tyr406Ter Single submitter Inborn genetic diseases
Likely pathogenic 2
- p.Gln118Ter Single submitter RBFOX2-related congenital heart disorder
- p.Glu252Ter Single submitter RBFOX2-related congenital heart disorder
Benign 11
- p.Gln149= Multiple submitters
- p.His8Gln Multiple submitters
- c.462+16_462+20del Single submitter
- c.817+12T>C Single submitter
- c.872-10A>C Single submitter
- p.Ala403_Ala405del Single submitter
- p.Leu28= Single submitter
- p.Pro115= Single submitter
- p.Pro68= Single submitter
- p.Val114Leu Single submitter
- p.Val298= Single submitter
Likely benign 39
- p.Ala401= Multiple submitters Inborn genetic diseases
- p.Pro181= Multiple submitters
- c.1097+7G>A Single submitter
- c.1138-16C>T Single submitter
- c.1300-5T>C Single submitter
- c.610-19_610-17del Single submitter
- c.817+15_817+43del Single submitter
- c.817+19C>T Single submitter
- c.871+19T>C Single submitter
- p.Ala18= Single submitter
- p.Ala335= Single submitter
- p.Ala355= Single submitter
- p.Ala40= Single submitter
- p.Ala404= Single submitter Inborn genetic diseases
- p.Ala425= Single submitter Inborn genetic diseases
- p.Ala434= Single submitter Inborn genetic diseases
- p.Ala55= Single submitter
- p.Asn63= Single submitter
- p.Asp163= Single submitter Inborn genetic diseases
- p.Asp371= Single submitter
- p.Asp408= Single submitter Inborn genetic diseases
- p.Asp89= Single submitter
- p.Gly80= Single submitter
- p.His242= Single submitter
- p.Ile214= Single submitter
- p.Leu198= Single submitter
- p.Phe225= Single submitter
- p.Phe228= Single submitter
- p.Pro286= Single submitter
- p.Pro33= Single submitter
- p.Pro446= Single submitter
- p.Pro84= Single submitter
- p.Ser143Gly Single submitter
- p.Thr124= Single submitter
- p.Thr244= Single submitter
- p.Thr394= Single submitter Inborn genetic diseases
- p.Thr397= Single submitter Inborn genetic diseases
- p.Tyr410= Single submitter Inborn genetic diseases
- p.Val32= Single submitter
Uncertain significance 63
- p.Asp417Asn Multiple submitters Inborn genetic diseases
- p.Asp41His Multiple submitters Congenital heart defect
- p.Glu229Gln Multiple submitters Inborn genetic diseases
- p.Gly133Arg Multiple submitters Inborn genetic diseases
- p.Gly409Ser Multiple submitters Inborn genetic diseases
- p.Met91Val Multiple submitters Inborn genetic diseases
- p.Pro104Leu Multiple submitters Inborn genetic diseases
- p.Pro307Ser Multiple submitters Inborn genetic diseases
- c.872-5A>G Single submitter
- p.Ala331Pro Single submitter Inborn genetic diseases
- p.Ala352Ser Single submitter Inborn genetic diseases
- p.Ala35Val Single submitter
- p.Ala363Thr Single submitter Inborn genetic diseases
- p.Ala395Thr Single submitter Inborn genetic diseases
- p.Ala398Thr Single submitter Inborn genetic diseases
- p.Ala402Thr Single submitter Inborn genetic diseases
- p.Ala403Ser Single submitter
- p.Ala403Val Single submitter Inborn genetic diseases
- p.Ala421Gly Single submitter
- p.Ala423Gly Single submitter Inborn genetic diseases
- p.Ala432Thr Single submitter Inborn genetic diseases
- p.Ala5Val Single submitter
- p.Arg183Gly Single submitter
- p.Arg249His Single submitter
- p.Arg76Trp Single submitter
- p.Asn144Asp Single submitter
- p.Asn144Ser Single submitter Inborn genetic diseases
- p.Asn263Ser Single submitter Inborn genetic diseases
- p.Asn302fs Single submitter
- p.Asp210Asn Single submitter Inborn genetic diseases
- p.Asp408Glu Single submitter Inborn genetic diseases
- p.Gln165Arg Single submitter Inborn genetic diseases
- p.Gln166Arg Single submitter Inborn genetic diseases
- p.Gln79Lys Single submitter
- p.Gly158Cys Single submitter Inborn genetic diseases
- p.Gly313Ser Single submitter Inborn genetic diseases
- p.Gly366Ser Single submitter
- p.Gly409Cys Single submitter
- p.Gly57Ser Single submitter
- p.Ile98Met Single submitter Inborn genetic diseases
- p.Leu378Pro Single submitter
- p.Met1Val Single submitter
- p.Pro102Ser Single submitter
- p.Pro10Gln Single submitter
- p.Pro196Leu Single submitter Inborn genetic diseases
- p.Pro31Arg Single submitter
- p.Pro328Ser Single submitter Inborn genetic diseases
- p.Pro365Ala Single submitter Inborn genetic diseases
- p.Pro424Ser Single submitter Inborn genetic diseases
- p.Pro88Ala Single submitter Inborn genetic diseases
- p.Ser134Arg Single submitter
- p.Ser277Asn Single submitter Inborn genetic diseases
- p.Ser78Arg Single submitter congenital heart disease
- p.Thr110Ala Single submitter Inborn genetic diseases
- p.Thr135Ala Single submitter
- p.Thr148Lys Single submitter
- p.Thr154Met Single submitter Inborn genetic diseases
- p.Thr180Ala Single submitter Inborn genetic diseases
- p.Thr394Ile Single submitter
- p.Thr50Ser Single submitter
- p.Tyr382Phe Single submitter Inborn genetic diseases
- p.Val413Leu Single submitter Inborn genetic diseases
- p.Val413Met Single submitter Inborn genetic diseases