"GeneDx"[submitter] AND "FBN2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 350749	NM_001999.4(FBN2):c.322_323dup	FBN2	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350748	NM_001999.4(FBN2):c.*323dup	FBN2	Duplication (3 prime UTR variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 350754	NM_001999.4(FBN2):c.*93TAA[2]	FBN2	Microsatellite (3 prime UTR variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 137357	NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign
Select item 213378	NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)	FBN2 (E2901K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1901956	NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)	FBN2 (L2899V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 234749	NM_001999.4(FBN2):c.8692G>T (p.Glu2898Ter)	FBN2 (E2898*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1214720	NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser)	FBN2 (Y2894S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 935217	NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)	FBN2 (Y2894C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213432	NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)	FBN2 (D2893V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 994415	NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)	FBN2 (D2892G)	Single nucleotide variant (missense variant)	not provided +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)	not provided +2 more	GBenign/Likely benign
Select item 213431	NM_001999.4(FBN2):c.8648T>C (p.Leu2883Pro)	FBN2 (L2883P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 634470	NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)	FBN2 (G2866S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GConflicting classifications of pathogenicity
Select item 383156	NM_001999.4(FBN2):c.8595C>T (p.Pro2865=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1305089	NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)	FBN2 (T2858M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 680879	NM_001999.4(FBN2):c.8559C>T (p.Leu2853=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GBenign/Likely benign
Select item 350758	NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser)	FBN2 (N2851S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 971720	NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)	FBN2 (R2846L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 213376	NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)	FBN2 (R2846H)	Single nucleotide variant (missense variant)	FBN2-related condition +4 more	GLikely benign
Select item 213258	NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)	FBN2 (V2844I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1191968	NM_001999.4(FBN2):c.8520C>G (p.Asn2840Lys)	FBN2 (N2840K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1309361	NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val)	FBN2 (I2836V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 213374	NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys)	FBN2 (R2833C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306361	NM_001999.4(FBN2):c.8482C>T (p.Leu2828Phe)	FBN2 (L2828F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313655	NM_001999.4(FBN2):c.8478G>C (p.Gln2826His)	FBN2 (Q2826H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 137356	NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 450503	NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys)	FBN2 (E2820K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 528397	NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)	FBN2 (K2815T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GConflicting classifications of pathogenicity
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 213372	NM_001999.4(FBN2):c.8387G>C (p.Ser2796Thr)	FBN2 (S2796T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 350759	NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)	FBN2 (I2792M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1187147	NM_001999.4(FBN2):c.8365-90C>A	FBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243515	NM_001999.4(FBN2):c.8364+166A>T	FBN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207549	NM_001999.4(FBN2):c.8364+71G>A	FBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674545	NM_001999.4(FBN2):c.8364+43A>G	FBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210637	NM_001999.4(FBN2):c.8364+34T>G	FBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677902	NM_001999.4(FBN2):c.8364+18dup	FBN2	Duplication (intron variant)	Congenital contractural arachnodactyly +1 more	GBenign/Likely benign
Select item 1136318	NM_001999.4(FBN2):c.8364+7A>G	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 137355	NM_001999.4(FBN2):c.8364+7A>T	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 1313868	NM_001999.4(FBN2):c.8364+2T>C	FBN2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 258529	NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)	FBN2 (P2784L)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 129054	NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)	FBN2 (E2783Q)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 213257	NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr)	FBN2 (H2782Y)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 213371	NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)	FBN2 (K2778Q)	Single nucleotide variant (missense variant)	FBN2-related condition +4 more	GBenign/Likely benign
Select item 1303298	NM_001999.4(FBN2):c.8321A>T (p.Asp2774Val)	FBN2 (D2774V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137354	NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 681482	NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213370	NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)	FBN2 (A2761V)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 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)	not specified +3 more	GBenign
Select item 213256	NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)	FBN2 (E2753K)	Single nucleotide variant (missense variant)	FBN2-related condition +5 more	GLikely benign
Select item 519858	NM_001999.4(FBN2):c.8253C>T (p.Val2751=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +3 more	GLikely benign
Select item 211002	NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +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)	Macular degeneration, early-onset +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 +2 more	GConflicting classifications of pathogenicity
Select item 213369	NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu)	FBN2 (G2736E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 507045	NM_001999.4(FBN2):c.8193-6A>G	FBN2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 213368	NM_001999.4(FBN2):c.8193-7C>G	FBN2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381749	NM_001999.4(FBN2):c.8193-18T>A	FBN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 679063	NM_001999.4(FBN2):c.8192+244C>T	FBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288746	NM_001999.4(FBN2):c.8192+80G>T	FBN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 528430	NM_001999.4(FBN2):c.8192+8G>A	FBN2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 384800	NM_001999.4(FBN2):c.8192+6G>A	FBN2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 570344	NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu)	FBN2 (P2723L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129052	NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign
Select item 1309564	NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)	FBN2 (G2715R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388975	NM_001999.4(FBN2):c.8139G>A (p.Thr2713=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 1253794	NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)	FBN2 (T2713M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 239093	NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related condition +3 more	GLikely benign
Select item 1304097	NM_001999.4(FBN2):c.8117G>T (p.Cys2706Phe)	FBN2 (C2706F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194098	NM_001999.4(FBN2):c.8100G>C (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 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)	FBN2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 213387	NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu)	FBN2	Indel (inframe_indel)	not provided +1 more	GUncertain significance
Select item 1308486	NM_001999.4(FBN2):c.8062C>G (p.Gln2688Glu)	FBN2 (Q2688E)	Single nucleotide variant (missense variant)	not provided	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)	not specified +3 more	GBenign/Likely benign
Select item 516069	NM_001999.4(FBN2):c.8046G>T (p.Ser2682=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related condition +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 2580442	NM_001999.4(FBN2):c.8041C>T (p.Pro2681Ser)	FBN2 (P2681S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429330	NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr)	FBN2 (A2679T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 392150	NM_001999.4(FBN2):c.7977C>G (p.Ser2659=)	FBN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 377872	NM_001999.4(FBN2):c.7961-10G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +1 more	GBenign/Likely benign
Select item 1200729	NM_001999.4(FBN2):c.7961-11C>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 391727	NM_001999.4(FBN2):c.7961-19T>A	FBN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1278161	NM_001999.4(FBN2):c.7961-179A>G	FBN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675860	NM_001999.4(FBN2):c.7960+208C>T	FBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383839	NM_001999.4(FBN2):c.7960+13T>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 213367	NM_001999.4(FBN2):c.7960+5G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 2504282	NM_001999.4(FBN2):c.7957G>A (p.Val2653Ile)	FBN2 (V2653I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213366	NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys)	FBN2 (Q2648K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 213365	NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)	FBN2 (Q2629R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity

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