"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137324	NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)	FBN2, LOC126807501 (A1056S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 1702408	NM_001999.4(FBN2):c.3163G>A (p.Gly1055Arg)	FBN2, LOC126807501 (G1055R)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 213300	NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)	FBN2, LOC126807501 (T1050M)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 263905	NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +4 more	GBenign/Likely benign
Select item 700223	NM_001999.4(FBN2):c.3087C>T (p.Val1029=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GLikely benign
Select item 568968	NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)	FBN2, LOC126807501 (R1021H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 213297	NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)	FBN2, LOC126807501 (R1021C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 129040	NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +5 more	GBenign