"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FBN1"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316313	NM_000138.5(FBN1):c.*2091G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 316316	NM_000138.5(FBN1):c.*2024A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 316328	NM_000138.5(FBN1):c.*1580G>A	FBN1	Single nucleotide variant (3 prime UTR variant)	Marfan syndrome +7 more	GConflicting classifications of pathogenicity
Select item 884892	NM_000138.5(FBN1):c.*1341C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Ectopia lentis 1, isolated, autosomal dominant +6 more	GConflicting classifications of pathogenicity
Select item 316338	NM_000138.5(FBN1):c.*1298C>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GConflicting classifications of pathogenicity
Select item 316339	NM_000138.5(FBN1):c.*1252A>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +7 more	GConflicting classifications of pathogenicity
Select item 316346	NM_000138.5(FBN1):c.*960del	FBN1	Deletion (3 prime UTR variant)	not provided +8 more	GBenign/Likely benign
Select item 1175867	NM_000138.5(FBN1):c.8603T>G (p.Val2868Gly)	FBN1 (V2868G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 803078	NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)	FBN1 (I2866fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 700620	NM_000138.5(FBN1):c.8533C>T (p.Leu2845=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 155795	NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)	FBN1 (E2841*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 36132	NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)	FBN1	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia +9 more	GConflicting classifications of pathogenicity
Select item 2645310	NM_000138.5(FBN1):c.8331C>T (p.Ile2777=)	FBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 36129	NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)	FBN1 (V2771I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 316360	NM_000138.5(FBN1):c.8310C>T (p.His2770=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +8 more	GConflicting classifications of pathogenicity
Select item 406312	NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)	FBN1 (N2767S)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 549458	NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)	FBN1 (N2767D)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 199954	NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)	FBN1 (K2729Q)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 16445	NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	FBN1 (R2726W)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 2645311	NM_000138.5(FBN1):c.8155A>G (p.Lys2719Glu)	FBN1 (K2719E)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 807238	NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 495655	NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser)	FBN1 (G2669S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 198345	NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)	FBN1 (A2655V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 263699	NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 3026664	NM_000138.5(FBN1):c.7867C>G (p.His2623Asp)	FBN1 (H2623D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 527225	NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 628885	NM_000138.5(FBN1):c.7836C>T (p.Leu2612=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 629586	NM_000138.5(FBN1):c.7773C>T (p.Ser2591=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 161241	NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)	FBN1 (R2554W)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 918883	NM_000138.5(FBN1):c.7575C>T (p.Asn2525=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 457263	NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GConflicting classifications of pathogenicity
Select item 263330	NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 922237	NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2582933	NM_000138.5(FBN1):c.7497A>T (p.Leu2499=)	FBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 923954	NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)	FBN1 (D2485E)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 729783	NM_000138.5(FBN1):c.7413G>A (p.Pro2471=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +3 more	GLikely benign
Select item 457260	NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)	FBN1 (Q2467R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 161239	NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)	FBN1 (K2460R)	Single nucleotide variant (missense variant)	FBN1-related condition +4 more	GUncertain significance
Select item 926839	NM_000138.5(FBN1):c.7299C>T (p.Tyr2433=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 444339	NM_000138.5(FBN1):c.7204+7C>G	FBN1	Single nucleotide variant (intron variant)	FBN1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 921089	NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)	FBN1 (R2394Q)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 42422	NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)	FBN1 (R2394*)	Single nucleotide variant (nonsense)	Marfan syndrome +2 more	GPathogenic
Select item 199952	NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)	FBN1	Single nucleotide variant (synonymous variant)	Stiff skin syndrome +8 more	GBenign/Likely benign
Select item 643581	NM_000138.5(FBN1):c.7083G>A (p.Ser2361=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +3 more	GLikely benign
Select item 263431	NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +8 more	GConflicting classifications of pathogenicity
Select item 495642	NM_000138.5(FBN1):c.6998-33del	FBN1	Deletion (intron variant)	FBN1-related condition +1 more	GBenign/Likely benign
Select item 36110	NM_000138.5(FBN1):c.6998-40del	FBN1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 689552	NM_000138.5(FBN1):c.6943A>G (p.Thr2315Ala)	FBN1 (T2315A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 653363	NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr)	FBN1 (C2289Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 377862	NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 36108	NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)	FBN1 (P2278S)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 450683	NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)	FBN1 (M2273I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 872710	NM_000138.5(FBN1):c.6816T>G (p.Tyr2272Ter)	FBN1 (Y2272*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 36107	NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	FBN1 (I2269T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GPathogenic/Likely pathogenic
Select item 662944	NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys)	FBN1 (E2250K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 406283	NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)	FBN1 (D2247G)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 36104	NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	FBN1 (V2234M)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 493158	NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)	FBN1 (C2230Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GLikely pathogenic
Select item 42408	NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)	FBN1	Single nucleotide variant (synonymous variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GConflicting classifications of pathogenicity
Select item 2498611	NM_000138.5(FBN1):c.6649T>G (p.Cys2217Gly)	FBN1 (C2217G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1694743	NM_000138.5(FBN1):c.6616+420C>T	FBN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2672586	NM_000138.5(FBN1):c.6603G>A (p.Met2201Ile)	FBN1 (M2201I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 36103	NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign/Likely benign
Select item 527223	NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +9 more	GBenign/Likely benign
Select item 872711	NM_000138.5(FBN1):c.6470A>G (p.Tyr2157Cys)	FBN1 (Y2157C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549345	NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)	FBN1 (P2154R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1675575	NM_000138.5(FBN1):c.6459T>C (p.Cys2153=)	FBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 200081	NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)	FBN1 (D2135N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 2645312	NM_000138.5(FBN1):c.6380-87C>G	FBN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 884751	NM_000138.5(FBN1):c.6379+4A>G	FBN1	Single nucleotide variant (intron variant)	Acromicric dysplasia +7 more	GBenign/Likely benign
Select item 234313	NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)	FBN1 (V2119M)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 2645313	NM_000138.5(FBN1):c.6339T>C (p.Tyr2113=)	FBN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137310	NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 623870	NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)	FBN1 (E2019K)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 388482	NM_000138.5(FBN1):c.6054C>T (p.Val2018=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 444340	NM_000138.5(FBN1):c.6045T>C (p.Asp2015=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 389955	NM_000138.5(FBN1):c.6038-8T>A	FBN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 200190	NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)	FBN1 (E2009K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 264487	NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)	FBN1 (I1974T)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 42392	NM_000138.5(FBN1):c.5788+10C>A	FBN1	Single nucleotide variant (intron variant)	FBN1-related condition +9 more	GBenign/Likely benign
Select item 316370	NM_000138.5(FBN1):c.5788+4C>A	FBN1	Single nucleotide variant (intron variant)	Stiff skin syndrome +8 more	GConflicting classifications of pathogenicity
Select item 316371	NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)	FBN1	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia +7 more	GConflicting classifications of pathogenicity
Select item 406280	NM_000138.5(FBN1):c.5672-87A>G	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely pathogenic
Select item 2570902	NM_000138.5(FBN1):c.5628C>A (p.Cys1876Ter)	FBN1 (C1876*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1012848	NM_000138.5(FBN1):c.5541dup (p.Asn1848fs)	FBN1 (N1848fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 457231	NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1343841	NM_000138.5(FBN1):c.5423-5C>T	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1176336	NM_000138.5(FBN1):c.5409G>T (p.Leu1803Phe)	FBN1 (L1803F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672587	NM_000138.5(FBN1):c.5395T>C (p.Tyr1799His)	FBN1 (Y1799H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42381	NM_000138.5(FBN1):c.5343G>A (p.Val1781=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 406341	NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)	FBN1 (C1777Y)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 3067685	NM_000138.5(FBN1):c.5285G>A (p.Gly1762Asp)	FBN1 (G1762D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377861	NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GLikely benign
Select item 3027310	NM_000138.5(FBN1):c.5278T>G (p.Tyr1760Asp)	FBN1 (Y1760D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807243	NM_000138.5(FBN1):c.5256G>T (p.Arg1752Ser)	FBN1 (R1752S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430150	NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)	FBN1 (A1728V)	Single nucleotide variant (missense variant)	Relative macrocephaly +9 more	GPathogenic/Likely pathogenic
Select item 807244	NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg)	FBN1 (C1720R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 918946	NM_000138.5(FBN1):c.5066-12C>A	FBN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 547327	NM_000138.5(FBN1):c.5065+1G>C	FBN1	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic

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