C0024796[trait identifier] AND "Center for Medical Genetics Ghent, Uni - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549469	NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs)	FBN1 (Y2849fs)	Duplication (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 549468	NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter)	FBN1 (E2846*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 419823	NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)	FBN1 (L2842fs)	Deletion (frameshift variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GPathogenic/Likely pathogenic
Select item 549466	NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)	FBN1 (K2840fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 263414	NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)	FBN1 (Q2830*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 549465	NM_000138.5(FBN1):c.8479del (p.Tyr2827fs)	FBN1 (Y2827fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 200134	NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser)	FBN1 (T2826S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 549464	NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)	FBN1 (H2816P)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 549463	NM_000138.5(FBN1):c.8428del (p.Glu2810fs)	FBN1 (E2810fs)	Deletion (frameshift variant)	Marfan syndrome	GUncertain significance
Select item 547349	NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)	FBN1 (I2806fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 549462	NM_000138.5(FBN1):c.8396del (p.Asn2799fs)	FBN1 (N2799fs)	Deletion (frameshift variant)	Marfan syndrome	GUncertain significance
Select item 42443	NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)	FBN1 (Y2793C)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 549461	NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)	FBN1 (Y2793H)	Single nucleotide variant (missense variant)	Marfan syndrome	GConflicting classifications of pathogenicity
Select item 263832	NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)	FBN1 (T2788M)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 549460	NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr)	FBN1 (I2777T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 16439	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1 (R2776*)	Single nucleotide variant (nonsense)	Marfan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 549459	NM_000138.5(FBN1):c.8312dup (p.Ser2772fs)	FBN1 (S2772fs)	Duplication (frameshift variant)	Marfan syndrome	GUncertain significance
Select item 549458	NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)	FBN1 (N2767D)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
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 549457	NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)	FBN1 (R2730W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 237107	NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)	FBN1 (R2726Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 16445	NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	FBN1 (R2726W)	Single nucleotide variant (missense variant)	Stiff skin syndrome +8 more	GConflicting classifications of pathogenicity
Select item 200173	NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter)	FBN1 (K2719*)	Duplication (nonsense)	not provided	GPathogenic
Select item 549455	NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs)	FBN1 (E2717fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 263433	NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)	FBN1 (E2717*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 237106	NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)	FBN1 (E2717K)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 549454	NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter)	FBN1 (Y2716*)	Duplication (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 163461	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	FBN1 (R2694*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 549453	NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr)	FBN1 (M2690T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 549452	NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)	FBN1 (H2685R)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GUncertain significance
Select item 549451	NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)	FBN1	Indel	Marfan syndrome	GPathogenic FDA Recognized database
Select item 200127	NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)	FBN1 (R2680C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 549450	NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser)	FBN1 (C2672S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 549449	NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr)	FBN1 (C2672Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 381609	NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)	FBN1 (G2668C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 549448	NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)	FBN1 (Y2661C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 406281	NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)	FBN1 (S2660R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 549447	NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly)	FBN1 (C2659G)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 406354	NM_000138.5(FBN1):c.7974dup (p.Cys2659fs)	FBN1 (C2659fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 549445	NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala)	FBN1 (P2658A)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 549443	NM_000138.5(FBN1):c.7931_7937del (p.Gly2644fs)	FBN1 (G2644fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 549444	NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg)	FBN1 (C2646R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 549442	NM_000138.4(FBN1):c.7930delGins34 (p.?)	FBN1	Indel	Marfan syndrome	GLikely pathogenic
Select item 549441	NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter)	FBN1 (Q2641*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 200123	NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)	FBN1 (Y2639C)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 549440	NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)	FBN1 (A2635T)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GBenign/Likely benign
Select item 549439	NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)	FBN1 (C2631F)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42436	NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)	FBN1 (C2631Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 549438	NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val)	FBN1 (G2627V)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 372606	NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)	FBN1 (G2627R)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GLikely pathogenic
Select item 549437	NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)	FBN1 (N2624S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549436	NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg)	FBN1 (C2622R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 549435	NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser)	FBN1 (C2622S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 42434	NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)	FBN1 (G2618R)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 549434	NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr)	FBN1 (C2617Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 406273	NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)	FBN1 (I2616M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 549433	NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val)	FBN1 (E2610V)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 264272	NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)	FBN1 (E2610K)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +10 more	GConflicting classifications of pathogenicity
Select item 200121	NM_000138.5(FBN1):c.7819+4A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +2 more	GUncertain significance
Select item 495653	NM_000138.5(FBN1):c.7819+3A>C	FBN1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 430010	NM_000138.5(FBN1):c.7819+1G>A	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +2 more	GPathogenic
Select item 439710	NM_000138.5(FBN1):c.7817_7819del (p.Val2606del)	FBN1	Deletion (inframe_deletion)	Marfan syndrome +1 more	GUncertain significance
Select item 549431	NM_000138.5(FBN1):c.7813dup (p.Cys2605fs)	FBN1 (C2605fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 549430	NM_000138.5(FBN1):c.7780del (p.Gln2594fs)	FBN1 (Q2594fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 549429	NM_000138.5(FBN1):c.7780C>T (p.Gln2594Ter)	FBN1 (Q2594*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +11 more	GPathogenic/Likely pathogenic
Select item 549427	NM_000138.5(FBN1):c.7746G>A (p.Gln2582=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely pathogenic
Select item 549426	NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)	FBN1 (C2581Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 36118	NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	FBN1 (R2576C)	Single nucleotide variant (missense variant)	Marfan syndrome +5 more	GConflicting classifications of pathogenicity
Select item 549424	NM_000138.5(FBN1):c.7719del (p.Asn2574fs)	FBN1 (N2574fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 549423	NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe)	FBN1 (C2571F)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 549422	NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)	FBN1 (C2571Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 439700	NM_000138.5(FBN1):c.7699+5G>A	FBN1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 549421	NM_000138.5(FBN1):c.7699+1G>A	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549420	NM_000138.5(FBN1):c.7643del (p.Phe2548fs)	FBN1 (F2548fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 549419	NM_000138.5(FBN1):c.7608dup (p.Ser2537fs)	FBN1 (S2537fs)	Duplication (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 42429	NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)	FBN1 (G2536R)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 549418	NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg)	FBN1 (C2535R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 549417	NM_000138.5(FBN1):c.7577del (p.Asn2526fs)	FBN1 (N2526fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 549416	NM_000138.5(FBN1):c.7574del (p.Asn2525fs)	FBN1 (N2525fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 549415	NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter)	FBN1 (C2522*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 178034	NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	FBN1 (G2514R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 527160	NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)	FBN1 (C2511Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 200115	NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)	FBN1 (C2511R)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GPathogenic
Select item 449160	NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)	FBN1 (N2502I)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 549414	NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe)	FBN1 (C2496F)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 549413	NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)	FBN1 (C2496S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 549412	NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly)	FBN1 (C2489G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 549411	NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser)	FBN1 (C2483S)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 549410	NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)	FBN1 (C2483R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549409	NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter)	FBN1 (E2478*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 36115	NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)	FBN1 (P2471R)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GConflicting classifications of pathogenicity
Select item 549408	NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)	FBN1 (C2470W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 549407	NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)	FBN1 (C2470Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 549406	NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)	FBN1 (C2470R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 549405	NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter)	FBN1 (Y2466*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 161239	NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)	FBN1 (K2460R)	Single nucleotide variant (missense variant)	Marfan syndrome +4 more	GUncertain significance
Select item 549404	NM_000138.5(FBN1):c.7371dup (p.Ile2458fs)	FBN1 (I2458fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 549402	NM_000138.5(FBN1):c.7331-1G>C	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome	GLikely pathogenic
Select item 549401	NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr)	FBN1 (D2444Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance

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