ClinVar for MedGen (Select 335538) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 492834	NM_000090.4(COL3A1):c.3008T>C (p.Leu1003Pro)	COL3A1 (L1003P)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 2	GUncertain significance
Select item 492832	NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)	FBN2 (G798S)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +1 more	GUncertain significance
Select item 492831	NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)	FBN1 (G2367R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 264534	NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)	FLNA (D1332G)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +6 more	GConflicting classifications of pathogenicity
Select item 213737	NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)	SLC2A10 (A457V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 18276	NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)	ACTA2 (R149C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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