"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174833	NM_001999.4(FBN2):c.7859G>A (p.Gly2620Glu)	FBN2 (G2620E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129049	NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 210999	NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)	FBN2 (I2394T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 137347	NM_001999.4(FBN2):c.6880+17G>A	FBN2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 129043	NM_001999.4(FBN2):c.5675-9C>T	FBN2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 213302	NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)	FBN2 (A1079S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 129039	NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)	FBN2 (V965I)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign
Select item 1175168	NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu)	FBN2 (P830L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 213286	NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)	FBN2 (G754S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign