"SIB Swiss Institute of Bioinformatics"[submitter] AND "FN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424648	NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del)	FN1 (T809del)	Microsatellite (inframe_deletion)	Spondylometaphyseal dysplasia - Sutcliffe type	GUncertain significance
Select item 424647	NM_212482.4(FN1):c.778T>G (p.Cys260Gly)	FN1 (C260G)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 424646	NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)	FN1 (Y240D)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 424645	NM_212482.4(FN1):c.675C>G (p.Cys225Trp)	FN1 (C225W)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +1 more	GPathogenic/Likely pathogenic
Select item 424644	NM_212482.4(FN1):c.367T>C (p.Cys123Arg)	FN1 (C123R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424643	NM_212482.4(FN1):c.260G>T (p.Cys87Phe)	FN1 (C87F)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic

ClinVar