C0024796[trait identifier] AND "Diagnostics Division, CENTRE FOR DNA F - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375300	NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)	FBN2 (C982F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 375299	NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)	FBN1 (P2002S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GLikely pathogenic