"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16439	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1 (R2776*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenicFDA Recognized database
Select item 549422	NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)	FBN1 (C2571Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 178034	NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	FBN1 (G2514R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenicFDA Recognized database
Select item 427047	NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)	FBN1 (D2485G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely pathogenic
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	Weill-Marchesani syndrome 2, dominant +4 more	GPathogenic
Select item 200097	NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)	FBN1 (R2306H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 384344	NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)	FBN1 (R2242C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significanceFDA Recognized database
Select item 1299642	NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly)	FBN1 (D2127G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 1299631	NM_000138.5(FBN1):c.6314-3del	FBN1	Deletion (intron variant)	Marfan syndrome	GLikely pathogenic
Select item 200189	NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)	FBN1 (I1909T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1708140	NM_000138.5(FBN1):c.5577dup (p.Cys1860fs)	FBN1 (C1860fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 42382	NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)	FBN1 (R1790*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 918678	NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)	FBN1 (R1771W)	Single nucleotide variant (missense variant)	Acromicric dysplasia +8 more	GUncertain significance
Select item 520496	NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)	FBN1 (R1692del)	Microsatellite (inframe_deletion)	Marfan syndrome	GPathogenicFDA Recognized database
Select item 1708070	NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)	FBN1 (C1687F)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1299644	NM_000138.5(FBN1):c.4690_4691insTGTT (p.Cys1564fs)	FBN1 (C1564fs)	Insertion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 549173	NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)	FBN1 (G1185D)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenicFDA Recognized database
Select item 2572629	NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)	FBN1 (C1039R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
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 1299630	NM_000138.5(FBN1):c.2729-2A>G	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 426218	NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg)	FBN1 (G905R)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 3256597	NM_000138.5(FBN1):c.2223C>G (p.Asn741Lys)	FBN1 (N741K)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 959230	NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro)	FBN1 (T631P)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 263880	NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)	FBN1 (Q603*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 1299517	NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg)	FBN1 (C557R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 200141	NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)	FBN1 (C89Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26