"3billion"[submitter] AND "FBN1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705635	NM_000138.5(FBN1):c.8562del (p.Ser2855fs)	FBN1 (S2855fs)	Deletion (frameshift variant)	Marfan syndrome	GUncertain significance
Select item 225629	NM_000138.5(FBN1):c.8226+1G>A	FBN1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1705455	NM_000138.5(FBN1):c.7820A>G (p.Asp2607Gly)	FBN1 (D2607G)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 646261	NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)	FBN1 (C2442Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 567869	NM_000138.5(FBN1):c.7204+1G>A	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	Marfan syndrome +4 more	GPathogenic
Select item 200191	NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	FBN1 (E2130K)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 2415220	NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)	FBN1	Deletion (nonsense +1 more)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549300	NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser)	FBN1 (F1912S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 42385	NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)	FBN1 (C1835Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2444123	NM_000138.5(FBN1):c.5013_5031del (p.Cys1672fs)	FBN1 (C1672fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 1687534	NM_000138.5(FBN1):c.4942G>C (p.Asp1648His)	FBN1 (D1648H)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 42366	NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)	FBN1 (R1539*)	Single nucleotide variant (nonsense)	Marfan syndrome +2 more	GPathogenic
Select item 2572452	NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)	FBN1 (C1526F)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 2444200	NM_000138.5(FBN1):c.4354C>T (p.Leu1452Phe)	FBN1 (L1452F)	Single nucleotide variant (missense variant)	Acromicric dysplasia	GUncertain significance
Select item 1705438	NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs)	FBN1 (F1400fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 495603	NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)	FBN1 (N1341S)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2572595	NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp)	FBN1 (E1327D)	Single nucleotide variant (missense variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome	GUncertain significance
Select item 1687424	NM_000138.5(FBN1):c.3640_3641del (p.Asn1214fs)	FBN1 (N1214fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 1333372	NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)	FBN1 (N1046S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 519571	NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)	FBN1 (G1042S)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GPathogenic/Likely pathogenic
Select item 2572491	NM_000138.5(FBN1):c.2830del (p.Asp944fs)	FBN1 (D944fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 1687323	NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr)	FBN1 (C914Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2572547	NM_000138.5(FBN1):c.2342del (p.Cys781fs)	FBN1 (C781fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 406272	NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg)	FBN1 (C769R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1076897	NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter)	FBN1 (Y665*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 1687255	NM_000138.5(FBN1):c.1714+2T>C	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 1705611	NM_000138.5(FBN1):c.1708T>A (p.Cys570Ser)	FBN1 (C570S)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant	GPathogenic
Select item 956400	NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)	FBN1 (C570R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 199963	NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	LOC113939944, FBN1 (R364*)	Single nucleotide variant (nonsense)	Marfan syndrome +5 more	GPathogenic/Likely pathogenic
Select item 450846	NM_000138.5(FBN1):c.523C>T (p.Pro175Ser)	FBN1 (P175S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 42373	NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)	FBN1 (R165*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 374203	NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)	FBN1 (C160R)	Single nucleotide variant (missense variant)	Marfan syndrome +5 more	GPathogenic/Likely pathogenic

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Items: 33