"PreventionGenetics, part of Exact Sciences"[submitter] AND "FBN2"[gen - 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)	Connective tissue disorder +5 more	GBenign
Select item 213376	NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)	FBN2 (R2846H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 3061370	NM_001999.4(FBN2):c.8506A>T (p.Ile2836Phe)	FBN2 (I2836F)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 3059426	NM_001999.4(FBN2):c.8365-8T>A	FBN2	Single nucleotide variant (intron variant)	FBN2-related disorder	GLikely benign
Select item 3061650	NM_001999.4(FBN2):c.8365-9T>A	FBN2	Single nucleotide variant (intron variant)	FBN2-related disorder	GLikely benign
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 258529	NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)	FBN2 (P2784L)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign
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 213371	NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)	FBN2 (K2778Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 137354	NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
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)	Congenital contractural arachnodactyly +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)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
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 239093	NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 258528	NM_001999.4(FBN2):c.8112C>T (p.Asn2704=)	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 +5 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)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 2413503	NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GBenign/Likely 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 +2 more	GLikely benign
Select item 1515865	NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)	FBN2 (N2662S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 3055218	NM_001999.4(FBN2):c.7912G>A (p.Gly2638Ser)	FBN2 (G2638S)	Single nucleotide variant (missense variant)	FBN2-related disorder +1 more	GUncertain significance
Select item 129051	NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu)	FBN2 (S2580L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 213364	NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)	FBN2 (Q2564E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 698091	NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)	FBN2 (F2554V)	Single nucleotide variant (missense variant)	FBN2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 213252	NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 1121634	NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2632294	NM_001999.4(FBN2):c.7561T>C (p.Tyr2521His)	FBN2 (Y2521H)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 213251	NM_001999.4(FBN2):c.7471+6G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +3 more	GConflicting classifications of pathogenicity
Select item 213427	NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)	FBN2 (R2473L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 129050	NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)	FBN2 (Q2432H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 350763	NM_001999.4(FBN2):c.7263G>A (p.Gln2421=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +3 more	GBenign/Likely benign
Select item 129049	NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 210999	NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)	FBN2 (I2394T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 258527	NM_001999.4(FBN2):c.7139-13T>G	FBN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 129048	NM_001999.4(FBN2):c.7013-5T>C	FBN2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 213249	NM_001999.4(FBN2):c.7012+7G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +4 more	GBenign/Likely benign
Select item 258526	NM_001999.4(FBN2):c.6990G>A (p.Arg2330=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 129047	NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +5 more	GBenign
Select item 129046	NM_001999.4(FBN2):c.6931A>G (p.Met2311Val)	FBN2 (M2311V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1092662	NM_001999.4(FBN2):c.6881-8T>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 137347	NM_001999.4(FBN2):c.6880+17G>A	FBN2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2630403	NM_001999.4(FBN2):c.6841A>G (p.Ile2281Val)	FBN2 (I2281V)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 258525	NM_001999.4(FBN2):c.6840G>A (p.Pro2280=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 137346	NM_001999.4(FBN2):c.6840G>T (p.Pro2280=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 519569	NM_001999.4(FBN2):c.6833C>A (p.Thr2278Lys)	FBN2 (T2278K)	Single nucleotide variant (missense variant)	FBN2-related disorder +1 more	GUncertain significance
Select item 258524	NM_001999.4(FBN2):c.6758-48T>C	FBN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 213246	NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)	FBN2 (I2219V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 258523	NM_001999.4(FBN2):c.6637+39A>G	FBN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 213420	NM_001999.4(FBN2):c.6598A>G (p.Met2200Val)	FBN2 (M2200V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 210998	NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)	FBN2 (N2184I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 258522	NM_001999.4(FBN2):c.6512-3T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 239091	NM_001999.4(FBN2):c.6512-7A>G	FBN2	Single nucleotide variant (intron variant)	FBN2-related disorder +2 more	GLikely benign
Select item 137345	NM_001999.4(FBN2):c.6511+15A>G	FBN2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 137344	NM_001999.4(FBN2):c.6511+5G>A	FBN2	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2069802	NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)	FBN2 (R2169H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 1967848	NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 137343	NM_001999.4(FBN2):c.6292+12C>A	FBN2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 213344	NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)	FBN2 (P2085A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 258521	NM_001999.4(FBN2):c.6166+24G>A	FBN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 213418	NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu)	FBN2 (K2050E)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 381151	NM_001999.4(FBN2):c.6138G>T (p.Gly2046=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related disorder +3 more	GBenign/Likely benign
Select item 3030121	NM_001999.4(FBN2):c.6105G>C (p.Leu2035Phe)	FBN2 (L2035F)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 213242	NM_001999.4(FBN2):c.6063C>T (p.Val2021=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 528445	NM_001999.4(FBN2):c.6057G>A (p.Glu2019=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +2 more	GLikely benign
Select item 2630493	NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)	FBN2 (N2018S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 213343	NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp)	FBN2 (N2002D)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GUncertain significance
Select item 220686	NM_001999.4(FBN2):c.5917+9T>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +3 more	GConflicting classifications of pathogenicity
Select item 129044	NM_001999.4(FBN2):c.5823T>C (p.His1941=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 264450	NM_001999.4(FBN2):c.5787G>A (p.Gln1929=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +3 more	GLikely benign
Select item 213239	NM_001999.4(FBN2):c.5675-9del	FBN2	Deletion (intron variant)	not specified +1 more	GBenign
Select item 129043	NM_001999.4(FBN2):c.5675-9C>T	FBN2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 258520	NM_001999.4(FBN2):c.5675-10del	FBN2	Deletion (intron variant)	not specified	GLikely benign
Select item 137342	NM_001999.4(FBN2):c.5674+7A>G	FBN2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1142554	NM_001999.4(FBN2):c.5574T>C (p.Asp1858=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related disorder +2 more	GLikely benign
Select item 2072639	NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 137341	NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2632744	NM_001999.4(FBN2):c.5397T>G (p.Phe1799Leu)	FBN2 (F1799L)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 137339	NM_001999.4(FBN2):c.5353+19C>T	FBN2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 3059650	NM_001999.4(FBN2):c.5103T>C (p.Gly1701=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related disorder	GLikely benign
Select item 2631118	NM_001999.4(FBN2):c.5023T>C (p.Cys1675Arg)	FBN2 (C1675R)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 137336	NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 258519	NM_001999.4(FBN2):c.4949-18C>G	FBN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3061551	NM_001999.4(FBN2):c.4880-5T>C	FBN2	Single nucleotide variant (intron variant)	FBN2-related disorder	GLikely benign
Select item 519823	NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)	FBN2 (D1588V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +3 more	GConflicting classifications of pathogenicity
Select item 137334	NM_001999.4(FBN2):c.4718-13T>C	FBN2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258518	NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 137333	NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 1264519	NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 258517	NM_001999.4(FBN2):c.4345+19G>A	FBN2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 137330	NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)	FBN2 (E1438K)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 137329	NM_001999.4(FBN2):c.4222+12A>G	FBN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 210996	NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)	FBN2 (H1381N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 196781	NM_001999.4(FBN2):c.4100-9G>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 129041	NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 2633080	NM_001999.4(FBN2):c.4090G>A (p.Gly1364Arg)	FBN2 (G1364R)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 3048897	NM_001999.4(FBN2):c.3921C>G (p.Arg1307=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related disorder	GLikely benign
Select item 264121	NM_001999.4(FBN2):c.3884A>G (p.Asp1295Gly)	FBN2 (D1295G)	Single nucleotide variant (missense variant)	FBN2-related disorder +1 more	GUncertain significance

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