ClinVar for MedGen (Select 67391) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3338526	NM_001999.4(FBN2):c.4594+2T>C	FBN2	Single nucleotide variant (splice donor variant)	Congenital contractural arachnodactyly	GLikely pathogenic
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 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 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 3220929	NM_001999.4(FBN2):c.41T>G (p.Leu14Arg)	FBN2 (L14R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3067861	NM_001999.4(FBN2):c.3019T>A (p.Trp1007Arg)	FBN2, LOC126807501 (W1007R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3065990	NM_001999.4(FBN2):c.7849G>T (p.Glu2617Ter)	FBN2 (E2617*)	Single nucleotide variant (nonsense)	Congenital contractural arachnodactyly	GLikely pathogenic
Select item 3064935	NM_001999.4(FBN2):c.3190G>A (p.Val1064Ile)	FBN2, LOC126807501 (V1064I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3055218	NM_001999.4(FBN2):c.7912G>A (p.Gly2638Ser)	FBN2 (G2638S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3023556	NM_001999.4(FBN2):c.5075-19A>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3023264	NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)	FBN2 (T2430A)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3021021	NM_001999.4(FBN2):c.6046+16A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3020389	NM_001999.4(FBN2):c.4471+9C>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3020213	NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)	FBN2 (P2024H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3019988	NM_001999.4(FBN2):c.2187C>T (p.Cys729=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3019981	NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)	FBN2 (S2843R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3019944	NM_001999.4(FBN2):c.5800+9G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3017772	NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)	FBN2 (V2390A)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3017132	NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GBenign
Select item 3016849	NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3016793	NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)	FBN2, LOC126807501 (K1072R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3016332	NM_001999.4(FBN2):c.7345+10T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3015803	NM_001999.4(FBN2):c.309G>T (p.Thr103=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3015769	NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)	FBN2 (R302K)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3015458	NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)	FBN2 (I1116V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3015084	NM_001999.4(FBN2):c.1281A>G (p.Pro427=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3014946	NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)	FBN2 (D1410E)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3014868	NM_001999.4(FBN2):c.4949-19A>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3014519	NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3014437	NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)	FBN2 (S2372T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3014277	NM_001999.4(FBN2):c.4100-6T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3011854	NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)	FBN2 (Q45P)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GBenign
Select item 3011752	NM_001999.4(FBN2):c.1972+4TG[2]	FBN2	Microsatellite (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3011035	NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)	FBN2 (L825F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3010686	NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3009720	NM_001999.4(FBN2):c.1241G>A (p.Arg414His)	FBN2 (R414H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3008994	NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)	FBN2 (P1778T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3008814	NM_001999.4(FBN2):c.4472-19T>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3008534	NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)	FBN2 (S1914N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3008081	NM_001999.4(FBN2):c.311T>A (p.Leu104His)	FBN2 (L104H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3007607	NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)	FBN2 (G2553V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3006534	NM_001999.4(FBN2):c.216C>T (p.Ser72=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3003266	NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)	FBN2 (A1698S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GBenign
Select item 3003235	NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)	FBN2 (T2787A)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3001621	NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)	FBN2 (D2695N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2999432	NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)	FBN2 (S54F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2999192	NM_001999.4(FBN2):c.7712-8T>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2997871	NM_001999.4(FBN2):c.5423-18A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2994998	NM_001999.4(FBN2):c.3974-7T>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2992913	NM_001999.4(FBN2):c.1797G>T (p.Gln599His)	FBN2 (Q599H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2990829	NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)	FBN2 (A2398S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2989823	NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2988659	NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)	FBN2 (T2487I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2988478	NM_001999.4(FBN2):c.2049C>T (p.Asp683=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2986586	NM_001999.4(FBN2):c.3973+17A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2985971	NM_001999.4(FBN2):c.6880+6G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2985749	NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)	FBN2 (S2775G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2984813	NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)	FBN2 (G480E)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2984620	NM_001999.4(FBN2):c.5918-20A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2984240	NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)	FBN2 (L2000I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2984141	NM_001999.4(FBN2):c.5422+20G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2981459	NM_001999.4(FBN2):c.3218-4T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2980614	NM_001999.4(FBN2):c.6881-19T>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2980613	NM_001999.4(FBN2):c.6881-15del	FBN2	Deletion (intron variant)	Congenital contractural arachnodactyly	GBenign
Select item 2979906	NM_001999.4(FBN2):c.1466-19G>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2979850	NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2979659	NM_001999.4(FBN2):c.338-18C>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2979149	NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)	FBN2 (R4G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GBenign
Select item 2979148	NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)	FBN2 (E2306G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2978799	NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)	FBN2 (H672Y)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2978508	NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)	FBN2 (K2507N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2977368	NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)	FBN2 (I2832N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2976928	NM_001999.4(FBN2):c.6292+17C>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2975982	NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)	FBN2 (S1347F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2975881	NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2975334	NM_001999.4(FBN2):c.1078+10G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2974127	NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2973239	NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)	FBN2 (A746T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2973180	NM_001999.4(FBN2):c.2863+9A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2970969	NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)	FBN2 (R970L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GBenign
Select item 2970761	NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)	FBN2 (S1383P)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2969180	NM_001999.4(FBN2):c.471G>A (p.Gly157=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2966063	NM_001999.4(FBN2):c.6972T>G (p.Pro2324=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2965378	NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2963087	NM_001999.4(FBN2):c.628+3A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2961334	NM_001999.4(FBN2):c.3725-18G>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2956390	NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)	FBN2 (N1112S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2956239	NM_001999.4(FBN2):c.411A>G (p.Ile137Met)	FBN2 (I137M)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2956228	NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)	FBN2 (G2553W)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2955723	NM_001999.4(FBN2):c.254+5G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2955557	NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2955529	NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)	FBN2 (D1866N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance

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