FBN1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 3061

<< First< Prev

Page of 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584073	NC_000015.10:g.(?_48410970)_(48412763_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 560348	NC_000015.9:g.48703187_48748959del45773	FBN1	Deletion	Marfan syndrome	GPathogenic
Select item 1764028	NM_000138.5(FBN1):c.8607del (p.Leu2869fs)	FBN1 (L2869fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 42447	NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)	FBN1 (L2869fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 42446	NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)	FBN1 (Q2867P)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 1708349	NM_000138.5(FBN1):c.8599del (p.Gln2867fs)	FBN1 (Q2867fs)	Deletion (frameshift variant)	Abnormality of connective tissue	GPathogenic
Select item 803078	NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)	FBN1 (I2866fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 662665	NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)	FBN1 (M2864T)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 1427976	NM_000138.5(FBN1):c.8576del (p.Gly2859fs)	FBN1 (G2859fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 406284	NM_000138.5(FBN1):c.8561del (p.Leu2854fs)	FBN1 (L2854fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 2948184	NM_000138.5(FBN1):c.8546_8547del (p.Lys2848_Tyr2849insTer)	FBN1	Microsatellite (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 1763801	NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter)	FBN1 (Y2849*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 549469	NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs)	FBN1 (Y2849fs)	Duplication (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 503785	NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs)	FBN1 (K2848fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 200175	NM_000138.5(FBN1):c.8544del (p.Lys2848fs)	FBN1 (K2848fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 549468	NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter)	FBN1 (E2846*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 520501	NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)	FBN1 (Q2844*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
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 2102751	NM_000138.5(FBN1):c.8512_8526A[5]GAAAGAACTTGGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAACTT[1] (p.Asn2843delinsGlyGlyGlyAlaLysMetAlaGluTer)	FBN1	Insertion (nonsense +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 445483	NM_000138.5(FBN1):c.8520_8523del (p.Lys2840fs)	FBN1 (K2840fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 155795	NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)	FBN1 (E2841*)	Single nucleotide variant (nonsense)	not provided +1 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 638158	NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter)	FBN1 (K2838*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 517128	NM_000138.5(FBN1):c.8504dup (p.Leu2836fs)	FBN1 (L2836fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1453783	NM_000138.5(FBN1):c.8499del (p.Ser2833fs)	FBN1 (S2833fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 2925529	NM_000138.5(FBN1):c.8491del (p.Ile2831fs)	FBN1 (I2831fs)	Deletion (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 2954229	NM_000138.5(FBN1):c.8483C>A (p.Ser2828Ter)	FBN1 (S2828*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 42445	NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)	FBN1 (S2828*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 549465	NM_000138.5(FBN1):c.8479del (p.Tyr2827fs)	FBN1 (Y2827fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 2112131	NM_000138.5(FBN1):c.8478del (p.Tyr2827fs)	FBN1 (Y2827fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 849975	NM_000138.5(FBN1):c.8477_8478insATAG (p.Thr2826_Tyr2827insTer)	FBN1	Insertion (nonsense +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 178674	NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)	FBN1 (G2825del)	Deletion (inframe_deletion)	Marfan syndrome	GLikely pathogenic
Select item 1076397	NM_000138.5(FBN1):c.8456dup (p.Lys2820fs)	FBN1 (K2820fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
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 949976	NM_000138.5(FBN1):c.8444T>A (p.Leu2815His)	FBN1 (L2815H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 2103774	NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter)	FBN1 (Y2814*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 429948	NM_000138.5(FBN1):c.8422del (p.Gln2808fs)	FBN1 (Q2808fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 547349	NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)	FBN1 (I2806fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 36131	NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)	FBN1	Deletion (inframe_deletion)	Marfan syndrome	GLikely pathogenic
Select item 520233	NM_000138.5(FBN1):c.8405dup (p.Phe2803fs)	FBN1 (F2803fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2498338	NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)	FBN1 (G2802V)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 1072809	NM_000138.5(FBN1):c.8398dup (p.Glu2800fs)	FBN1 (E2800fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 2691178	NM_000138.5(FBN1):c.8374del (p.Arg2792fs)	FBN1 (R2792fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 632812	NM_000138.5(FBN1):c.8359_8360dup (p.Leu2787_Thr2788insTer)	FBN1	Microsatellite (frameshift variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GLikely pathogenic
Select item 450496	NM_000138.5(FBN1):c.8360dup (p.Thr2788fs)	FBN1 (T2788fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 632811	NM_000138.5(FBN1):c.8359_8360del (p.Leu2787fs)	FBN1 (L2787fs)	Microsatellite (frameshift variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GLikely pathogenic
Select item 1518035	NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp)	FBN1 (A2783D)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 839703	NM_000138.5(FBN1):c.8338dup (p.Leu2780fs)	FBN1 (L2780fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 222616	NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)	FBN1 (L2780P)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 457271	NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter)	FBN1 (E2779*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GLikely pathogenic
Select item 527186	NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg)	FBN1 (L2778R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 569062	NM_000138.5(FBN1):c.8329del (p.Ile2777fs)	FBN1 (I2777fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 1381235	NM_000138.5(FBN1):c.8312_8327dup (p.Arg2776_Ile2777insGlnTer)	FBN1	Duplication (nonsense +1 more)	Marfan syndrome +1 more	GPathogenic
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 1454408	NM_000138.5(FBN1):c.8323del (p.Val2775fs)	FBN1 (V2775fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 2944944	NM_000138.5(FBN1):c.8297del (p.Phe2766fs)	FBN1 (F2766fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 617941	NM_000138.5(FBN1):c.8275_8291del (p.Glu2759fs)	FBN1 (E2759fs)	Deletion (frameshift variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome	GPathogenic
Select item 2098553	NM_000138.5(FBN1):c.8282del (p.Thr2761fs)	FBN1 (T2761fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 163457	NM_000138.4(FBN1):c.(?_4473)_(8280_?)del	FBN1	Deletion	Marfan syndrome	GPathogenic
Select item 372849	NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter)	FBN1 (E2759*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 16424	NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter)	FBN1	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 42441	NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter)	FBN1 (W2756*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 179129	NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)	FBN1 (S2755fs)	Indel (frameshift variant)	Marfan syndrome	GPathogenic
Select item 2948925	NM_000138.5(FBN1):c.8260del (p.Ala2754fs)	FBN1 (A2754fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 651909	NM_000138.5(FBN1):c.8259del (p.Ala2754fs)	FBN1 (A2754fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 418893	NM_000138.5(FBN1):c.8256del (p.Ala2754fs)	FBN1 (A2754fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 547348	NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter)	FBN1 (S2752*)	Microsatellite (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 2017463	NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter)	FBN1 (E2748*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 2954224	NM_000138.5(FBN1):c.8240_8241del (p.Thr2747fs)	FBN1 (T2747fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 1074530	NM_000138.5(FBN1):c.8235dup (p.Glu2746Ter)	FBN1 (E2746*)	Duplication (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 200129	NM_000138.5(FBN1):c.8226+5G>A	FBN1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 40245	NM_000138.5(FBN1):c.8226+1G>T	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +1 more	GPathogenic
Select item 2137672	NM_000138.5(FBN1):c.8219_8225dup (p.Asp2743fs)	FBN1 (D2743fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 520767	NM_000138.5(FBN1):c.8206dup (p.Thr2736fs)	FBN1 (T2736fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1685816	NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)	FBN1 (E2735fs)	Duplication (frameshift variant)	Acromicric dysplasia	GPathogenic
Select item 36125	NM_000138.5(FBN1):c.8203del (p.Glu2735fs)	FBN1 (E2735fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 225628	NM_000138.5(FBN1):c.8175_8182del (p.Arg2726fs)	FBN1 (R2726fs)	Deletion (frameshift variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome	GPathogenic
Select item 1710004	NM_000138.5(FBN1):c.8176del (p.Arg2726fs)	FBN1 (R2726fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 40244	NM_000138.5(FBN1):c.8156_8175del (p.Lys2719fs)	FBN1 (K2719fs)	Deletion (frameshift variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome	GPathogenic
Select item 527171	NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter)	FBN1 (K2725*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 427024	NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser)	FBN1 (P2724S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 40243	NM_000138.5(FBN1):c.8155_8156del (p.Lys2719fs)	FBN1 (K2719fs)	Deletion (frameshift variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome	GPathogenic
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 1762177	NM_000138.5(FBN1):c.8148C>A (p.Tyr2716Ter)	FBN1 (Y2716*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 549454	NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter)	FBN1 (Y2716*)	Duplication (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 222615	NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)	FBN1 (Y2716*)	Single nucleotide variant (nonsense)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 648036	NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter)	FBN1 (C2715*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 2921488	NM_000138.5(FBN1):c.8140del (p.Ala2714fs)	FBN1 (A2714fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 1069308	NM_000138.5(FBN1):c.8118del (p.Asp2706fs)	FBN1 (D2706fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 2925530	NM_000138.5(FBN1):c.8108del (p.Gly2703fs)	FBN1 (G2703fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 1762015	NM_000138.5(FBN1):c.8104_8105del (p.Ser2702fs)	FBN1 (S2702fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1453079	NM_000138.5(FBN1):c.8103_8104insT (p.Ser2702Ter)	FBN1 (S2702*)	Insertion (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 646300	NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs)	FBN1 (V2701fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 2431891	NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)	FBN1 (P2697fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 665604	NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter)	FBN1 (E2698*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 406336	NM_000138.5(FBN1):c.8087del (p.Asn2696fs)	FBN1 (N2696fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic

<< First< Prev

Page of 31