"Ambry Genetics"[submitter] AND "FBN2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137357	NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +5 more	GBenign
Select item 213378	NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)	FBN2 (E2901K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 698086	NM_001999.4(FBN2):c.8691G>A (p.Gly2897=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1620417	NM_001999.4(FBN2):c.8688A>G (p.Leu2896=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1764292	NM_001999.4(FBN2):c.8682C>T (p.Tyr2894=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 935217	NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)	FBN2 (Y2894C)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 994415	NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)	FBN2 (D2892G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 213377	NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)	FBN2 (D2892Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 3221982	NM_001999.4(FBN2):c.8673G>A (p.Glu2891=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 576355	NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)	FBN2 (N2890D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1764230	NM_001999.4(FBN2):c.8667C>T (p.Ser2889=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221981	NM_001999.4(FBN2):c.8646G>A (p.Glu2882=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 213430	NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)	FBN2 (E2882Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1764140	NM_001999.4(FBN2):c.8643G>A (p.Lys2881=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1764080	NM_001999.4(FBN2):c.8625C>A (p.Ile2875=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1970217	NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 263471	NM_001999.4(FBN2):c.8597G>T (p.Gly2866Val)	FBN2 (G2866V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 634470	NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)	FBN2 (G2866S)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset +3 more	GConflicting classifications of pathogenicity
Select item 383156	NM_001999.4(FBN2):c.8595C>T (p.Pro2865=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +2 more	GLikely benign
Select item 263395	NM_001999.4(FBN2):c.8589C>T (p.Leu2863=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 2754384	NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)	FBN2 (K2862T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 350757	NM_001999.4(FBN2):c.8574G>A (p.Thr2858=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1763837	NM_001999.4(FBN2):c.8559C>G (p.Leu2853=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2448302	NM_001999.4(FBN2):c.8545C>G (p.Gln2849Glu)	FBN2 (Q2849E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213376	NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)	FBN2 (R2846H)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 2144389	NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 681713	NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 263810	NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)	FBN2 (Q2838R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1580385	NM_001999.4(FBN2):c.8508C>T (p.Ile2836=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 213375	NM_001999.4(FBN2):c.8498G>A (p.Arg2833His)	FBN2 (R2833H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263929	NM_001999.4(FBN2):c.8481C>G (p.Pro2827=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1684738	NM_001999.4(FBN2):c.8470G>T (p.Ala2824Ser)	FBN2 (A2824S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 137356	NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 1763439	NM_001999.4(FBN2):c.8451C>T (p.His2817=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 528397	NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)	FBN2 (K2815T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 3221980	NM_001999.4(FBN2):c.8436C>T (p.Leu2812=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221979	NM_001999.4(FBN2):c.8433C>T (p.His2811=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 679472	NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr)	FBN2 (S2810T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GLikely benign
Select item 2624606	NM_001999.4(FBN2):c.8424C>T (p.Asn2808=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1123277	NM_001999.4(FBN2):c.8406C>T (p.Pro2802=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 1763201	NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)	FBN2 (M2799T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1763198	NM_001999.4(FBN2):c.8395A>G (p.Met2799Val)	FBN2 (M2799V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2563245	NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 350759	NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)	FBN2 (I2792M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 258529	NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)	FBN2 (P2784L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 2563255	NM_001999.4(FBN2):c.8349A>G (p.Glu2783=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 129054	NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)	FBN2 (E2783Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 213257	NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr)	FBN2 (H2782Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213371	NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)	FBN2 (K2778Q)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 528441	NM_001999.4(FBN2):c.8322C>T (p.Asp2774=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 519824	NM_001999.4(FBN2):c.8310T>C (p.Tyr2770=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 643395	NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)	FBN2 (G2769S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 137354	NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 681482	NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +2 more	GLikely benign
Select item 213370	NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)	FBN2 (A2761V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 213429	NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala)	FBN2 (E2760A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129053	NM_001999.4(FBN2):c.8274C>T (p.Ser2758=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +3 more	GBenign
Select item 2496937	NM_001999.4(FBN2):c.8271G>A (p.Leu2757=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 213256	NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)	FBN2 (E2753K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 665195	NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)	FBN2 (D2752N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 519858	NM_001999.4(FBN2):c.8253C>T (p.Val2751=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +2 more	GLikely benign
Select item 211002	NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 213255	NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)	FBN2 (L2747V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 458782	NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)	FBN2 (Y2744D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 264120	NM_001999.4(FBN2):c.8196C>T (p.His2732=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 264027	NM_001999.4(FBN2):c.8193-4A>G	FBN2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1912196	NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 2625455	NM_001999.4(FBN2):c.8167C>G (p.Pro2723Ala)	FBN2 (P2723A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 129052	NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 841508	NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)	FBN2 (G2715R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 388975	NM_001999.4(FBN2):c.8139G>A (p.Thr2713=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 519831	NM_001999.4(FBN2):c.8127C>G (p.Gly2709=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 239093	NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 264179	NM_001999.4(FBN2):c.8119A>C (p.Asn2707His)	FBN2 (N2707H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 258528	NM_001999.4(FBN2):c.8112C>T (p.Asn2704=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2496938	NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 213428	NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)	FBN2 (V2696M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 528437	NM_001999.4(FBN2):c.8085C>T (p.Asp2695=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 390822	NM_001999.4(FBN2):c.8082C>T (p.His2694=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213254	NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)	FBN2 (H2694Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 519841	NM_001999.4(FBN2):c.8064G>A (p.Gln2688=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1380823	NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu)	FBN2 (D2687E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 234845	NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu)	FBN2 (F2686L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137353	NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +3 more	GBenign/Likely benign
Select item 516069	NM_001999.4(FBN2):c.8046G>T (p.Ser2682=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 377873	NM_001999.4(FBN2):c.8043C>A (p.Pro2681=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 263329	NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)	FBN2 (A2679S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 1615622	NM_001999.4(FBN2):c.8019G>C (p.Leu2673=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2915040	NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 519812	NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr)	FBN2 (A2663T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 264359	NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys)	FBN2 (E2655K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 263521	NM_001999.4(FBN2):c.7938C>T (p.His2646=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1761195	NM_001999.4(FBN2):c.7913G>A (p.Gly2638Asp)	FBN2 (G2638D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3221978	NM_001999.4(FBN2):c.7903T>C (p.Tyr2635His)	FBN2 (Y2635H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 519851	NM_001999.4(FBN2):c.7901G>A (p.Gly2634Asp)	FBN2 (G2634D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 213365	NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)	FBN2 (Q2629R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 264343	NM_001999.4(FBN2):c.7879G>A (p.Gly2627Ser)	FBN2 (G2627S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1760922	NM_001999.4(FBN2):c.7860G>A (p.Gly2620=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 458780	NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu)	FBN2 (G2620E)	Indel (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 458779	NM_001999.4(FBN2):c.7841-3C>T	FBN2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance

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