"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36132	NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)	FBN1	Single nucleotide variant (synonymous variant)	FBN1-related condition +9 more	GConflicting classifications of pathogenicity
Select item 36128	NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 377863	NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 42433	NM_000138.5(FBN1):c.7819+8A>C	FBN1	Single nucleotide variant (intron variant)	Connective tissue disorder +9 more	GBenign
Select item 457263	NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GConflicting classifications of pathogenicity
Select item 263330	NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 457260	NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)	FBN1 (Q2467R)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 161239	NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)	FBN1 (K2460R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 263431	NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)	FBN1	Single nucleotide variant (synonymous variant)	Acromicric dysplasia +8 more	GConflicting classifications of pathogenicity
Select item 137312	NM_000138.5(FBN1):c.6997+17C>G	FBN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 42413	NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)	FBN1	Single nucleotide variant (synonymous variant)	Stiff skin syndrome +12 more	GBenign
Select item 42412	NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GBenign
Select item 284076	NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)	FBN1	Single nucleotide variant (synonymous variant)	FBN1-related condition +4 more	GBenign/Likely benign
Select item 36108	NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)	FBN1 (P2278S)	Single nucleotide variant (missense variant)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 199951	NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +3 more	GBenign/Likely benign
Select item 36104	NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	FBN1 (V2234M)	Single nucleotide variant (missense variant)	FBN1-related condition +8 more	GConflicting classifications of pathogenicity
Select item 42408	NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GConflicting classifications of pathogenicity
Select item 549357	NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)	FBN1 (R2220Q)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 36103	NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign/Likely benign
Select item 137311	NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GBenign/Likely benign
Select item 1008866	NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)	FBN1 (E2105V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 623870	NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)	FBN1 (E2019K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 42381	NM_000138.5(FBN1):c.5343G>A (p.Val1781=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 137309	NM_000138.5(FBN1):c.5296+14G>A	FBN1	Single nucleotide variant (intron variant)	Geleophysic dysplasia +8 more	GBenign/Likely benign
Select item 549267	NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs)	FBN1 (C1748fs)	Microsatellite (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 178599	NM_000138.5(FBN1):c.5066-14dup	FBN1	Duplication (intron variant)	Geleophysic dysplasia +8 more	GBenign
Select item 1210086	NM_000138.5(FBN1):c.4943-2A>G	FBN1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 36084	NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 36082	NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	FBN1 (R1596*)	Single nucleotide variant (nonsense)	Marfan syndrome +9 more	GPathogenic
Select item 923695	NM_000138.5(FBN1):c.4194T>C (p.Asp1398=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 36072	NM_000138.5(FBN1):c.3965-8T>C	FBN1	Single nucleotide variant (intron variant)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 16451	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	FBN1 (R1170H)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 137305	NM_000138.5(FBN1):c.3464-5G>A	FBN1	Single nucleotide variant (intron variant)	Connective tissue disorder +9 more	GBenign
Select item 36065	NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)	FBN1 (P1148A)	Single nucleotide variant (missense variant)	Connective tissue disorder +9 more	GBenign
Select item 42330	NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 36062	NM_000138.5(FBN1):c.3082+8del	FBN1	Deletion (intron variant)	FBN1-related condition +3 more	GBenign/Likely benign
Select item 137304	NM_000138.5(FBN1):c.3082+6A>G	FBN1	Single nucleotide variant (intron variant)	Acromicric dysplasia +12 more	GBenign/Likely benign
Select item 316380	NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)	FBN1	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia +8 more	GBenign/Likely benign
Select item 316381	NM_000138.5(FBN1):c.2979C>T (p.Cys993=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 36060	NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	FBN1 (A986T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 42320	NM_000138.5(FBN1):c.2895G>A (p.Glu965=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GConflicting classifications of pathogenicity
Select item 42319	NM_000138.5(FBN1):c.2855-9C>T	FBN1	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome +8 more	GBenign/Likely benign
Select item 200001	NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	FBN1 (A882V)	Single nucleotide variant (missense variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome +11 more	GPathogenic/Likely pathogenic
Select item 626598	NM_000138.5(FBN1):c.2637C>T (p.Leu879=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 36052	NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg)	FBN1 (S836R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 42297	NM_000138.5(FBN1):c.1875T>C (p.Asn625=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +9 more	GBenign
Select item 36041	NM_000138.5(FBN1):c.1746C>T (p.Cys582=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign/Likely benign
Select item 390725	NM_000138.5(FBN1):c.1530G>A (p.Ser510=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 228314	NM_000138.5(FBN1):c.1415= (p.Tyr472=)	FBN1	Single nucleotide variant (no sequence alteration)	Marfan syndrome +2 more	GBenign
Select item 137299	NM_000138.5(FBN1):c.1029G>A (p.Gly343=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GBenign/Likely benign
Select item 1210039	NM_000138.5(FBN1):c.863-26C>T	FBN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 237105	NM_000138.5(FBN1):c.783T>C (p.Asn261=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 316391	NM_000138.5(FBN1):c.538+4A>G	FBN1	Single nucleotide variant (intron variant)	Connective tissue disorder +9 more	GConflicting classifications of pathogenicity
Select item 36086	NM_000138.5(FBN1):c.510C>T (p.Tyr170=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 137314	NM_000138.5(FBN1):c.306C>T (p.Cys102=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 163486	NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)	FBN1, LOC130057019 (A27T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database

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Items: 56