ClinVar for Gene (Select 2201) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382090	NM_001999.4(FBN2):c.3364T>C (p.Ser1122Pro)	FBN2 (S1122P)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 3381531	NM_001999.4(FBN2):c.6059G>T (p.Cys2020Phe)	FBN2 (C2020F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381261	NM_001999.4(FBN2):c.7487C>G (p.Ser2496Cys)	FBN2 (S2496C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380995	NM_001999.4(FBN2):c.6113C>G (p.Ser2038Cys)	FBN2 (S2038C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3379602	NM_001999.4(FBN2):c.3244G>A (p.Gly1082Arg)	FBN2 (G1082R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377875	NM_001999.4(FBN2):c.53G>A (p.Cys18Tyr)	FBN2 (C18Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377676	NM_001999.4(FBN2):c.6010G>A (p.Gly2004Ser)	FBN2 (G2004S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3376499	NM_001999.4(FBN2):c.6211T>C (p.Ser2071Pro)	FBN2 (S2071P)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset +1 more	GUncertain significance
Select item 3375740	NM_001999.4(FBN2):c.2606A>G (p.Asn869Ser)	FBN2 (N869S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375601	NM_001999.4(FBN2):c.1933C>T (p.Pro645Ser)	FBN2 (P645S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375039	NM_001999.4(FBN2):c.923A>G (p.Lys308Arg)	FBN2 (K308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3375007	NM_001999.4(FBN2):c.2253A>T (p.Glu751Asp)	FBN2 (E751D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374985	NC_000005.9:g.(127713571_127714463)_(127727849_127728827)del	FBN2	Deletion	not specified	GUncertain significance
Select item 3373723	NM_001999.4(FBN2):c.3839C>G (p.Ser1280Trp)	FBN2 (S1280W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373615	NM_001999.4(FBN2):c.628+1G>T	FBN2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3373548	NM_001999.4(FBN2):c.6048C>G (p.Asp2016Glu)	FBN2 (D2016E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373346	NM_001999.4(FBN2):c.71A>T (p.Gln24Leu)	FBN2 (Q24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372970	NM_001999.4(FBN2):c.2242A>T (p.Asn748Tyr)	FBN2 (N748Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372145	NM_001999.4(FBN2):c.6020T>C (p.Leu2007Pro)	FBN2 (L2007P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370984	NM_001999.4(FBN2):c.35A>C (p.Tyr12Ser)	FBN2 (Y12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370925	NM_001999.4(FBN2):c.2378G>T (p.Cys793Phe)	FBN2 (C793F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369826	NM_001999.4(FBN2):c.2053C>T (p.Pro685Ser)	FBN2 (P685S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369707	NM_001999.4(FBN2):c.5180A>G (p.Asn1727Ser)	FBN2 (N1727S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368879	NM_001999.4(FBN2):c.2432T>C (p.Ile811Thr)	FBN2 (I811T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368068	NM_001999.4(FBN2):c.8124C>G (p.Tyr2708Ter)	FBN2 (Y2708*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3368059	NM_001999.4(FBN2):c.6800G>A (p.Arg2267His)	FBN2 (R2267H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367853	NM_001999.4(FBN2):c.243C>A (p.Asp81Glu)	FBN2 (D81E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367712	NM_001999.4(FBN2):c.6224C>T (p.Thr2075Ile)	FBN2 (T2075I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367448	NM_001999.4(FBN2):c.8017C>G (p.Leu2673Val)	FBN2 (L2673V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366509	NM_001999.4(FBN2):c.1710G>A (p.Lys570=)	FBN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3366494	NM_001999.4(FBN2):c.4471+10C>T	FBN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3364029	NM_001999.4(FBN2):c.8284T>A (p.Cys2762Ser)	FBN2 (C2762S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363724	NM_001999.4(FBN2):c.2025C>G (p.Asn675Lys)	FBN2 (N675K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362266	NM_001999.4(FBN2):c.3149C>G (p.Thr1050Arg)	FBN2 (T1050R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3360843	NM_001999.4(FBN2):c.6841A>C (p.Ile2281Leu)	FBN2 (I2281L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359730	NM_001999.4(FBN2):c.8167C>T (p.Pro2723Ser)	FBN2 (P2723S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351943	NM_001999.4(FBN2):c.2490A>G (p.Pro830=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related disorder	GLikely benign
Select item 3351733	NM_001999.4(FBN2):c.439C>T (p.Gln147Ter)	FBN2 (Q147*)	Single nucleotide variant (nonsense)	FBN2-related disorder	GUncertain significance
Select item 3348920	NM_001999.4(FBN2):c.784C>T (p.Arg262Ter)	FBN2 (R262*)	Single nucleotide variant (nonsense)	FBN2-related disorder	GLikely pathogenic
Select item 3347545	NM_001999.4(FBN2):c.4157_4159del (p.Asn1386del)	FBN2 (N1386del)	Deletion (inframe_deletion)	FBN2-related disorder	GUncertain significance
Select item 3346816	NM_001999.4(FBN2):c.4374C>A (p.Asn1458Lys)	FBN2 (N1458K)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 3346770	NM_001999.4(FBN2):c.6883C>G (p.Leu2295Val)	FBN2 (L2295V)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 3346394	NM_001999.4(FBN2):c.7440C>A (p.Tyr2480Ter)	FBN2 (Y2480*)	Single nucleotide variant (nonsense)	FBN2-related disorder	GUncertain significance
Select item 3346097	NM_001999.4(FBN2):c.4634G>A (p.Gly1545Asp)	FBN2 (G1545D)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 3345339	NM_001999.4(FBN2):c.3806G>A (p.Ser1269Asn)	FBN2 (S1269N)	Single nucleotide variant (missense variant)	FBN2-related disorder	GUncertain significance
Select item 3344288	NM_001999.4(FBN2):c.6881-1G>C	FBN2	Single nucleotide variant (splice acceptor variant)	FBN2-related disorder	GUncertain significance
Select item 3343884	NM_001999.4(FBN2):c.4472-1G>A	FBN2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3342996	NM_001999.4(FBN2):c.7570C>T (p.Gln2524Ter)	FBN2 (Q2524*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3342895	NM_001999.4(FBN2):c.3275C>T (p.Thr1092Ile)	FBN2 (T1092I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341861	NM_001999.4(FBN2):c.5660A>T (p.Asn1887Ile)	FBN2 (N1887I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340362	NM_001999.4(FBN2):c.3359G>A (p.Arg1120Lys)	FBN2 (R1120K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340222	NM_001999.4(FBN2):c.7340G>A (p.Gly2447Glu)	FBN2 (G2447E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340190	NM_001999.4(FBN2):c.92A>G (p.Gln31Arg)	FBN2 (Q31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339853	NM_001999.4(FBN2):c.4686T>G (p.Phe1562Leu)	FBN2 (F1562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339852	NM_001999.4(FBN2):c.3104C>T (p.Thr1035Ile)	FBN2, LOC126807501 (T1035I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338771	NM_001999.4(FBN2):c.6335A>G (p.Lys2112Arg)	FBN2 (K2112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338526	NM_001999.4(FBN2):c.4594+2T>C	FBN2	Single nucleotide variant (splice donor variant)	Congenital contractural arachnodactyly	GLikely pathogenic
Select item 3337308	NM_001999.4(FBN2):c.5801-633_6166+1908del	FBN2	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 3337103	NM_001999.4(FBN2):c.1297A>G (p.Arg433Gly)	FBN2 (R433G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3335999	NM_001999.4(FBN2):c.8046G>A (p.Ser2682=)	FBN2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3277983	NM_001999.4(FBN2):c.7641T>C (p.Cys2547=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277982	NM_001999.4(FBN2):c.7146A>C (p.Arg2382=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277981	NM_001999.4(FBN2):c.3105C>T (p.Thr1035=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277980	NM_001999.4(FBN2):c.7251C>T (p.Gly2417=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277979	NM_001999.4(FBN2):c.3045C>A (p.Pro1015=)	FBN2, LOC126807501	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277977	NM_001999.4(FBN2):c.2331T>C (p.Asp777=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277976	NM_001999.4(FBN2):c.1465+3A>G	FBN2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277975	NM_001999.4(FBN2):c.4065T>A (p.Gly1355=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277974	NM_001999.4(FBN2):c.6816T>C (p.Phe2272=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277973	NM_001999.4(FBN2):c.78G>A (p.Thr26=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277972	NM_001999.4(FBN2):c.5530C>T (p.Leu1844=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277970	NM_001999.4(FBN2):c.6234C>T (p.Gly2078=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277969	NM_001999.4(FBN2):c.2899C>T (p.Pro967Ser)	FBN2 (P967S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277968	NM_001999.4(FBN2):c.5271G>A (p.Val1757=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277967	NM_001999.4(FBN2):c.1356C>G (p.Gly452=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277966	NM_001999.4(FBN2):c.6584G>T (p.Arg2195Leu)	FBN2 (R2195L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277964	NM_001999.4(FBN2):c.7327T>C (p.Tyr2443His)	FBN2 (Y2443H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277963	NM_001999.4(FBN2):c.1599T>C (p.Cys533=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277962	NM_001999.4(FBN2):c.6047-3_6047-2del	FBN2	Deletion (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3277960	NM_001999.4(FBN2):c.657G>A (p.Gln219=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3277959	NM_001999.4(FBN2):c.1560A>G (p.Glu520=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3254549	NM_001999.4(FBN2):c.2338G>A (p.Ala780Thr)	FBN2 (A780T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3253487	NM_001999.4(FBN2):c.8650A>C (p.Lys2884Gln)	FBN2 (K2884Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251829	NM_001999.4(FBN2):c.6413A>T (p.Asp2138Val)	FBN2 (D2138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251596	NM_001999.4(FBN2):c.7594+2T>C	FBN2	Single nucleotide variant (splice donor variant)	Familial aortopathy	GLikely pathogenic
Select item 3251480	NM_001999.4(FBN2):c.2310T>C (p.Asn770=)	FBN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3246297	NC_000005.9:g.(?_127595147)_(127873296_?)dup	FBN2	Duplication	Congenital contractural arachnodactyly	GUncertain significance
Select item 3246296	NC_000005.9:g.(?_127636489)_(127637222_?)del	FBN2	Deletion	Congenital contractural arachnodactyly	GUncertain significance
Select item 3246295	NC_000005.9:g.(?_127653831)_(127654703_?)del	FBN2	Deletion	Congenital contractural arachnodactyly	GPathogenic
Select item 3246294	NC_000005.9:g.(?_127692948)_(127697561_?)del	FBN2	Deletion	Congenital contractural arachnodactyly	GUncertain significance
Select item 3246293	NC_000005.9:g.(?_127680057)_(127873296_?)del	FBN2	Deletion	Congenital contractural arachnodactyly	GUncertain significance
Select item 3246292	NC_000005.9:g.(?_127872075)_(127873296_?)del	FBN2	Deletion	Congenital contractural arachnodactyly	GUncertain significance
Select item 3246291	NC_000005.9:g.(?_127728808)_(127873296_?)del	FBN2	Deletion	Congenital contractural arachnodactyly	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3235959	NM_001999.4(FBN2):c.6248G>T (p.Cys2083Phe)	FBN2 (C2083F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely pathogenic
Select item 3234859	NM_001999.4(FBN2):c.7009G>A (p.Val2337Ile)	FBN2 (V2337I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3234720	NM_001999.4(FBN2):c.3396C>A (p.Val1132=)	FBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234664	NM_001999.4(FBN2):c.7453A>G (p.Ser2485Gly)	FBN2 (S2485G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233833	NM_001999.4(FBN2):c.7473C>T (p.Asp2491=)	FBN2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3221982	NM_001999.4(FBN2):c.8673G>A (p.Glu2891=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign

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