Search results for FBN1

Gene symbol Genotype Mutation consequence Disease Panel
FBN1 monoallelic all missense/in frame WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT
FBN1 monoallelic dominant negative SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
FBN1 monoallelic loss of function MARFAN SYNDROME
FBN1 biallelic loss of function MARFAN SYNDROME (biallelic, loss of function)
FBN1 monoallelic all missense/in frame ISOLATED ECTOPIA LENTIS
FBN1 monoallelic dominant negative MARFAN SYNDROME
FBN1 monoallelic loss of function WEILL-MARCHESANI SYNDROME 2
FBN1 biallelic loss of function MARFAN SYNDROME
FBN1 monoallelic all missense/in frame ISOLATED ECTOPIA LENTIS
FBN1 monoallelic dominant negative SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
FBN1 monoallelic loss of function WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT