ClinVar for PMC (Select 14949) - ClinVar - NCBI

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Links from PMC

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583712	NC_000015.10:g.(?_48520639)_(48520837_?)del	FBN1, LOC113939944	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 583489	NC_000015.10:g.(?_48460226)_(48460337_?)del	FBN1	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 581299	NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe)	FBN1 (C696F)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 527188	NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp)	FBN1 (C2378W)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 527187	NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg)	FBN1 (C993R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GLikely pathogenic
Select item 457221	NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr)	FBN1 (C1564Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 457157	NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)	FBN1, LOC113939944 (C360Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 406342	NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr)	FBN1 (C1736Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 392364	NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser)	FBN1 (C982S)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 36043	NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)	FBN1 (C685W)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic