ClinVar for MedGen (Select 83315) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689552	NM_000138.5(FBN1):c.6943A>G (p.Thr2315Ala)	FBN1 (T2315A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 519975	NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)	MYLK (D717N +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 492833	NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu)	COL3A1	Indel	Aortic dissection	GLikely pathogenic
Select item 374203	NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)	FBN1 (C160R)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +5 more	GPathogenic/Likely pathogenic
Select item 373976	NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys)	FBN1 (Y2425C)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +3 more	GLikely pathogenic
Select item 16440	NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	FBN1 (R122C)	Single nucleotide variant (missense variant)	Acromicric dysplasia +14 more	GPathogenic
Select item 3691	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	LDLR (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database

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