"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978558	NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)	FBN2 (T2555A)	Single nucleotide variant (missense variant)	Global developmental delay +6 more	GUncertain significance
Select item 289728	NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)	FBN2 (A2328S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +4 more	GConflicting classifications of pathogenicity
Select item 930334	NM_001999.4(FBN2):c.4712G>C (p.Cys1571Ser)	FBN2 (C1571S)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset	GUncertain significance
Select item 930425	NM_001999.4(FBN2):c.4055G>C (p.Cys1352Ser)	FBN2 (C1352S)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset	GLikely pathogenic
Select item 213318	NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)	FBN2 (R1237C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 930869	NM_001999.4(FBN2):c.3592T>C (p.Cys1198Arg)	FBN2 (C1198R)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset	GLikely pathogenic
Select item 930920	NM_001999.4(FBN2):c.2200G>C (p.Asp734His)	FBN2 (D734H)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset	GUncertain significance

ClinVar