C1861456[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16445	NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	FBN1 (R2726W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 2441773	NM_000138.5(FBN1):c.8005G>C (p.Gly2669Arg)	FBN1 (G2669R)	Single nucleotide variant (missense variant)	Stiff skin syndrome	GLikely pathogenic
Select item 36082	NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	FBN1 (R1596*)	Single nucleotide variant (nonsense)	Marfan syndrome +9 more	GPathogenic
Select item 521833	NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)	FBN1 (G1353R)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 16451	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	FBN1 (R1170H)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 200017	NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)	FBN1 (D1155N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GPathogenic/Likely pathogenic
Select item 982352	NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)	FBN1, LOC113939944 (R332C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 2441994	NM_000138.5(FBN1):c.695G>A (p.Arg232His)	FBN1 (R232H)	Single nucleotide variant (missense variant)	Stiff skin syndrome	GUncertain significance