"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 650768	NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)	FBN1 (I2866N)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 406279	NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys)	FBN1 (M2864K)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 915543	NM_000138.5(FBN1):c.8510A>G (p.Tyr2837Cys)	FBN1 (Y2837C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 915544	NM_000138.5(FBN1):c.8402A>C (p.Asp2801Ala)	FBN1 (D2801A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 42444	NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 263832	NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)	FBN1 (T2788M)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenignFDA Recognized database
Select item 2442978	NM_000138.5(FBN1):c.8339T>A (p.Leu2780His)	FBN1 (L2780H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 406312	NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)	FBN1 (N2767S)	Single nucleotide variant (missense variant)	Marfan syndrome +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)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 36126	NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)	FBN1 (N2740S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 549457	NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)	FBN1 (R2730W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 199954	NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)	FBN1 (K2729Q)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 498253	NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)	FBN1 (G2727S)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 16445	NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	FBN1 (R2726W)	Single nucleotide variant (missense variant)	Marfan syndrome +12 more	GConflicting classifications of pathogenicity
Select item 2442868	NM_000138.5(FBN1):c.8107G>A (p.Gly2703Ser)	FBN1 (G2703S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 915545	NM_000138.5(FBN1):c.8079C>T (p.Gly2693=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 42439	NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)	FBN1 (G2691S)	Single nucleotide variant (missense variant)	Marfan syndrome +7 more	GConflicting classifications of pathogenicity
Select item 512365	NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 527153	NM_000138.5(FBN1):c.8039G>A (p.Arg2680His)	FBN1 (R2680H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 200127	NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)	FBN1 (R2680C)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 382821	NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 626875	NM_000138.5(FBN1):c.7917T>C (p.Tyr2639=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 200123	NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)	FBN1 (Y2639C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 263699	NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 42434	NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)	FBN1 (G2618R)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 1329373	NM_000138.5(FBN1):c.7820-1G>A	FBN1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1329372	NM_000138.5(FBN1):c.7805G>A (p.Trp2602Ter)	FBN1 (W2602*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 263920	NM_000138.5(FBN1):c.7792C>T (p.Gln2598Ter)	FBN1 (Q2598*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +12 more	GPathogenic/Likely pathogenic
Select item 963925	NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg)	FBN1 (C2571R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 922931	NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)	FBN1 (G2562S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 915546	NM_000138.5(FBN1):c.7676A>T (p.Asp2559Val)	FBN1 (D2559V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 626876	NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)	FBN1 (C2552R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 626877	NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser)	FBN1 (C2550S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenicFDA Recognized database
Select item 42429	NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)	FBN1 (G2536R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 625127	NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)	FBN1 (C2528R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 457263	NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)	FBN1	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +7 more	GConflicting classifications of pathogenicity
Select item 527160	NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)	FBN1 (C2511Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 457262	NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)	FBN1 (G2506S)	Single nucleotide variant (missense variant)	Stiff skin syndrome +7 more	GConflicting classifications of pathogenicity
Select item 137313	NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GBenign/Likely benign
Select item 2442979	NM_000138.5(FBN1):c.7453+3A>C	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 200113	NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)	FBN1 (Q2477R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 2691177	NM_000138.5(FBN1):c.7425T>G (p.Ile2475Met)	FBN1 (I2475M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 549408	NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)	FBN1 (C2470W)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42425	NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)	FBN1 (N2449S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 507824	NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 703996	NM_000138.5(FBN1):c.7335G>T (p.Leu2445=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 646261	NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)	FBN1 (C2442Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 626585	NM_000138.5(FBN1):c.7299C>G (p.Tyr2433Ter)	FBN1 (Y2433*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 519729	NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)	FBN1 (R2414*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 1502613	NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)	FBN1 (D2411N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 199952	NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GBenign/Likely benign
Select item 36111	NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)	FBN1 (V2358I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2442869	NM_000138.5(FBN1):c.7071C>G (p.Pro2357=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	Weill-Marchesani syndrome 2, dominant +4 more	GPathogenic
Select item 316365	NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)	FBN1 (D2329E)	Single nucleotide variant (missense variant)	Marfan syndrome +12 more	GBenign/Likely benign
Select item 36109	NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)	FBN1 (A2324T)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 921655	NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)	FBN1 (N2304S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 632817	NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)	FBN1 (T2297M)	Single nucleotide variant (missense variant)	Marfan syndrome +11 more	GConflicting classifications of pathogenicity
Select item 626586	NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)	FBN1 (Q2296H)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 377862	NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 42410	NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 380285	NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)	FBN1 (P2278A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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)	Weill-Marchesani syndrome +9 more	GBenign/Likely benign
Select item 1407992	NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)	FBN1 (Y2272C)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GLikely pathogenic
Select item 573034	NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)	FBN1 (C2251R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 549363	NM_000138.5(FBN1):c.6740-2del	FBN1	Deletion (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 199951	NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 36104	NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	FBN1 (V2234M)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity
Select item 42408	NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 915547	NM_000138.5(FBN1):c.6662G>T (p.Cys2221Phe)	FBN1 (C2221F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 643925	NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)	FBN1 (N2208S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 807242	NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)	FBN1 (M2201V)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 36103	NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)	FBN1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 915610	NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val)	FBN1 (F2196V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 255306	NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)	FBN1 (E2193K)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 519782	NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)	FBN1 (N2178K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 200084	NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)	FBN1 (R2150C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenicFDA Recognized database
Select item 667452	NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp)	FBN1 (G2147D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 16431	NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	FBN1 (N2144S)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 200191	NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	FBN1 (E2130K)	Single nucleotide variant (missense variant)	Marfan syndrome +12 more	GPathogenic/Likely pathogenic
Select item 1325439	NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)	FBN1 (D2127V)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1329371	NM_000138.5(FBN1):c.6350_6360del (p.Ile2117fs)	FBN1 (I2117fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
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 549340	NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)	FBN1 (C2111R)	Single nucleotide variant (missense variant)	Isolated thoracic aortic aneurysm +3 more	GPathogenic/Likely pathogenic
Select item 449438	NM_000138.5(FBN1):c.6313+3A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 264000	NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)	FBN1 (T2101M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 137310	NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 626587	NM_000138.5(FBN1):c.6248G>C (p.Cys2083Ser)	FBN1 (C2083S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1329370	NM_000138.5(FBN1):c.6219del (p.Lys2074fs)	FBN1 (K2074fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2442870	NM_000138.5(FBN1):c.6185A>T (p.Tyr2062Phe)	FBN1 (Y2062F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 200076	NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)	FBN1 (R2057*)	Single nucleotide variant (nonsense)	Marfan syndrome +4 more	GPathogenic
Select item 431924	NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)	FBN1 (C2038Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic
Select item 626588	NM_000138.5(FBN1):c.6079G>C (p.Gly2027Arg)	FBN1 (G2027R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 36097	NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)	FBN1 (A2025S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 388482	NM_000138.5(FBN1):c.6054C>T (p.Val2018=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +4 more	GConflicting classifications of pathogenicity
Select item 457240	NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)	FBN1 (C2017R)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GPathogenic/Likely pathogenic
Select item 626589	NM_000138.5(FBN1):c.5964del (p.Cys1989fs)	FBN1 (C1989fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2691176	NM_000138.5(FBN1):c.5917+5_5917+29del	FBN1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic

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