"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - 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)	not provided +5 more	GBenign
Select item 213258	NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)	FBN2 (V2844I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137356	NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +3 more	GBenign/Likely benign
Select item 1702253	NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)	FBN2 (G2813S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 350759	NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)	FBN2 (I2792M)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +4 more	GConflicting classifications of pathogenicity
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 258529	NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)	FBN2 (P2784L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +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)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
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 213370	NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)	FBN2 (A2761V)	Single nucleotide variant (missense variant)	See cases +4 more	GConflicting classifications of pathogenicity
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 +5 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)	Congenital contractural arachnodactyly +4 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 841508	NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)	FBN2 (G2715R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 1702252	NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp)	FBN2 (S2700W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702251	NM_001999.4(FBN2):c.8098T>C (p.Ser2700Pro)	FBN2 (S2700P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 213254	NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)	FBN2 (H2694Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 1702250	NM_001999.4(FBN2):c.7938C>G (p.His2646Gln)	FBN2 (H2646Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 264176	NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
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 137349	NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 210999	NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)	FBN2 (I2394T)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 861462	NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly)	FBN2 (D2380G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 1085506	NM_001999.4(FBN2):c.7012+7G>C	FBN2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
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 1600841	NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)	FBN2 (I2322V)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 129047	NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign
Select item 213423	NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)	FBN2 (I2316F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 264344	NM_001999.4(FBN2):c.6903G>T (p.Gly2301=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +3 more	GLikely benign
Select item 213246	NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)	FBN2 (I2219V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +4 more	GBenign/Likely benign
Select item 213245	NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
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 699106	NM_001999.4(FBN2):c.6293-8T>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 213243	NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +3 more	GBenign/Likely benign
Select item 1035043	NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)	FBN2 (F2069L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 350768	NM_001999.4(FBN2):c.6167-4G>A	FBN2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1702249	NM_001999.4(FBN2):c.6046+10T>C	FBN2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 213241	NM_001999.4(FBN2):c.6000A>G (p.Leu2000=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +4 more	GBenign/Likely benign
Select item 1122971	NM_001999.4(FBN2):c.5847A>G (p.Lys1949=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GLikely benign
Select item 1418558	NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)	FBN2 (R1940W)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 1478861	NM_001999.4(FBN2):c.5801-5T>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 424450	NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)	FBN2 (N1894S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 213238	NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 137341	NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 350769	NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 137340	NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1599682	NM_001999.4(FBN2):c.5430T>C (p.Asp1810=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +2 more	GBenign/Likely benign
Select item 137337	NM_001999.4(FBN2):c.5353+10C>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +3 more	GBenign/Likely benign
Select item 1702247	NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)	FBN2 (Y1709C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 137333	NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +7 more	GBenign/Likely benign
Select item 213331	NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)	FBN2 (V1548I)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1702410	NM_001999.4(FBN2):c.4589G>A (p.Cys1530Tyr)	FBN2 (C1530Y)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 576982	NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)	FBN2 (D1485N)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 213327	NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)	FBN2 (R1473H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 388711	NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)	FBN2 (R1433H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 213325	NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr)	FBN2 (H1417Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 213409	NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)	FBN2 (T1416A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 668795	NM_001999.4(FBN2):c.4222+10C>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 129042	NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)	FBN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 210996	NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)	FBN2 (H1381N)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 1702246	NM_001999.4(FBN2):c.4122T>G (p.Gly1374=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 129041	NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign
Select item 213322	NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys)	FBN2 (Y1311C)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 377867	NM_001999.4(FBN2):c.3848-10G>A	FBN2	Single nucleotide variant (intron variant)	FBN2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 137326	NM_001999.4(FBN2):c.3848-10G>T	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign
Select item 213402	NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)	FBN2 (S1280L)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 213230	NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)	FBN2 (Q1256R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 137325	NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 350778	NM_001999.4(FBN2):c.3655A>G (p.Met1219Val)	FBN2 (M1219V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 1702245	NM_001999.4(FBN2):c.3520T>C (p.Cys1174Arg)	FBN2 (C1174R)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GUncertain significance
Select item 1702244	NM_001999.4(FBN2):c.3456G>C (p.Met1152Ile)	FBN2 (M1152I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702409	NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)	FBN2 (N1133S)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GUncertain significance
Select item 213305	NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)	FBN2 (R1099H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1702243	NM_001999.4(FBN2):c.3272A>G (p.Asn1091Ser)	FBN2 (N1091S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 137324	NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)	FBN2, LOC126807501 (A1056S)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 1702408	NM_001999.4(FBN2):c.3163G>A (p.Gly1055Arg)	FBN2, LOC126807501 (G1055R)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 213300	NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)	FBN2, LOC126807501 (T1050M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263905	NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 700223	NM_001999.4(FBN2):c.3087C>T (p.Val1029=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 568968	NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)	FBN2, LOC126807501 (R1021H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 213297	NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)	FBN2, LOC126807501 (R1021C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GUncertain significance
Select item 129040	NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 137322	NM_001999.4(FBN2):c.2940C>T (p.Cys980=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 129039	NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)	FBN2 (V965I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign
Select item 129038	NM_001999.4(FBN2):c.2778C>T (p.Ala926=)	FBN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 864855	NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)	FBN2 (G880S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 213224	NM_001999.4(FBN2):c.2625T>C (p.Cys875=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 458745	NM_001999.4(FBN2):c.2620A>C (p.Asn874His)	FBN2 (N874H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 137321	NM_001999.4(FBN2):c.2555-7A>G	FBN2	Single nucleotide variant (intron variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 137320	NM_001999.4(FBN2):c.2508G>A (p.Thr836=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 385541	NM_001999.4(FBN2):c.2469C>T (p.Asn823=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GLikely benign
Select item 137319	NM_001999.4(FBN2):c.2427T>A (p.Ile809=)	FBN2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 213286	NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)	FBN2 (G754S)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GBenign/Likely benign

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