"Institute of Human Genetics, University Medical Center Hamburg-Eppend - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +12 more	GPathogenic/Likely pathogenic
Select item 625128	NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr)	FBN1 (C2565Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 625127	NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)	FBN1 (C2528R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 625126	NM_000138.5(FBN1):c.6613dup (p.Glu2205fs)	FBN1 (E2205fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 625125	NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)	FBN1 (D2129G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 625124	NM_000138.5(FBN1):c.5905del (p.Arg1969fs)	FBN1 (R1969fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 373743	NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)	FBN1 (R1832H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 625123	NM_000138.5(FBN1):c.5066-1G>A	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome +1 more	GPathogenic
Select item 625122	NM_000138.5(FBN1):c.4781del (p.Gly1594fs)	FBN1 (G1594fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 625121	NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val)	FBN1 (F1346V)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 549195	NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)	FBN1 (G1313S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 200022	NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	FBN1 (D1238N)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenicFDA Recognized database
Select item 625120	NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)	FBN1 (E1200V)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 625119	NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr)	FBN1 (C1111Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 527177	NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter)	FBN1 (Y1004*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 625118	NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg)	FBN1 (C853R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 42300	NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)	FBN1 (C748R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 625117	NM_000138.5(FBN1):c.1589-14A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely pathogenic
Select item 431982	NM_000138.5(FBN1):c.1570dup (p.Thr524fs)	FBN1 (T524fs)	Duplication (frameshift variant)	Marfan syndrome +2 more	GPathogenic
Select item 625116	NM_000138.5(FBN1):c.974_983del (p.Gly325fs)	FBN1 (G325fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 16461	NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	FBN1 (R240C)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +10 more	GPathogenic/Likely pathogenic
Select item 199956	NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	FBN1 (G214S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 625115	NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)	FBN1 (C102R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic

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Items: 23