ClinVar for MedGen (Select 67391) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899945	NM_001999.4(FBN2):c.7667G>C (p.Cys2556Ser)	FBN2 (C2556S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	Gnot provided
Select item 3899359	NM_001999.4(FBN2):c.3598+4A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely pathogenic
Select item 3891920	NM_001999.4(FBN2):c.7154T>C (p.Leu2385Pro)	FBN2 (L2385P)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset +1 more	GUncertain significance
Select item 3775501	NM_001999.4(FBN2):c.3425G>C (p.Cys1142Ser)	FBN2 (C1142S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely pathogenic
Select item 3773733	NM_001999.4(FBN2):c.3812G>T (p.Gly1271Val)	FBN2 (G1271V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely pathogenic
Select item 3767121	NM_001999.4(FBN2):c.8084A>G (p.Asp2695Gly)	FBN2 (D2695G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely pathogenic
Select item 3731621	NM_001999.4(FBN2):c.1192A>G (p.Ile398Val)	FBN2 (I398V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3731363	NM_001999.4(FBN2):c.1832A>G (p.Asp611Gly)	FBN2 (D611G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3730276	NM_001999.4(FBN2):c.796A>G (p.Ile266Val)	FBN2 (I266V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3730044	NM_001999.4(FBN2):c.5074+12T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3729851	NM_001999.4(FBN2):c.1753C>T (p.Leu585Phe)	FBN2 (L585F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3729846	NM_001999.4(FBN2):c.7594+4A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3729454	NM_001999.4(FBN2):c.1723+16T>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3729091	NM_001999.4(FBN2):c.3725-10G>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3728949	NM_001999.4(FBN2):c.7346-18T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3727688	NM_001999.4(FBN2):c.3204G>T (p.Arg1068=)	LOC126807501, FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GBenign
Select item 3727669	NM_001999.4(FBN2):c.1973-13A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3727164	NM_001999.4(FBN2):c.8685C>T (p.Leu2895=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3727101	NM_001999.4(FBN2):c.2555-4_2555-3delinsAA	FBN2	Indel (intron variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3725033	NM_001999.4(FBN2):c.3217+20G>T	FBN2, LOC126807501	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3724836	NM_001999.4(FBN2):c.4080G>A (p.Lys1360=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3722397	NM_001999.4(FBN2):c.2555-787_2655delinsT	FBN2	Indel (splice acceptor variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3721678	NM_001999.4(FBN2):c.1466-1G>A	FBN2	Single nucleotide variant (splice acceptor variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3720652	NM_001999.4(FBN2):c.2219C>A (p.Pro740His)	FBN2 (P740H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3720651	NM_001999.4(FBN2):c.3170G>A (p.Gly1057Asp)	FBN2, LOC126807501 (G1057D)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3720650	NM_001999.4(FBN2):c.3373C>G (p.Leu1125Val)	FBN2 (L1125V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3719883	NM_001999.4(FBN2):c.4956C>T (p.Asp1652=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GBenign
Select item 3719282	NM_001999.4(FBN2):c.5074G>A (p.Asp1692Asn)	FBN2 (D1692N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3719091	NM_001999.4(FBN2):c.2361_2362insGA (p.Arg788fs)	FBN2 (R788fs)	Insertion (frameshift variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3719043	NM_001999.4(FBN2):c.1216C>T (p.Pro406Ser)	FBN2 (P406S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3718743	NM_001999.4(FBN2):c.124C>A (p.Pro42Thr)	FBN2 (P42T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3718185	NM_001999.4(FBN2):c.7862A>G (p.Asn2621Ser)	FBN2 (N2621S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3718049	NM_001999.4(FBN2):c.6292+11G>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3717957	NM_001999.4(FBN2):c.2389A>G (p.Ser797Gly)	FBN2 (S797G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3717670	NM_001999.4(FBN2):c.5800+17G>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3717543	NM_001999.4(FBN2):c.7139-7A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3717507	NM_001999.4(FBN2):c.2170A>T (p.Thr724Ser)	FBN2 (T724S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3717425	NM_001999.4(FBN2):c.160T>A (p.Ser54Thr)	FBN2 (S54T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3716303	NM_001999.4(FBN2):c.3429C>T (p.Phe1143=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3716281	NM_001999.4(FBN2):c.628+11A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3716185	NM_001999.4(FBN2):c.3683A>G (p.Asn1228Ser)	FBN2 (N1228S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3715640	NM_001999.4(FBN2):c.2584G>A (p.Val862Ile)	FBN2 (V862I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3715484	NM_001999.4(FBN2):c.4514C>T (p.Thr1505Ile)	FBN2 (T1505I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3714775	NM_001999.4(FBN2):c.6687C>G (p.Thr2229=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3713410	NM_001999.4(FBN2):c.4346-4A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3713405	NM_001999.4(FBN2):c.1850-11C>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3713381	NM_001999.4(FBN2):c.3187G>C (p.Asp1063His)	FBN2, LOC126807501 (D1063H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3713336	NM_001999.4(FBN2):c.6682T>G (p.Cys2228Gly)	FBN2 (C2228G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3713327	NM_001999.4(FBN2):c.1553G>C (p.Arg518Pro)	FBN2 (R518P)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3713168	NM_001999.4(FBN2):c.5605A>G (p.Asn1869Asp)	FBN2 (N1869D)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3713117	NM_001999.4(FBN2):c.8365-3C>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3712922	NM_001999.4(FBN2):c.8591T>G (p.Met2864Arg)	FBN2 (M2864R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3712706	NM_001999.4(FBN2):c.851C>T (p.Pro284Leu)	FBN2 (P284L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3711646	NM_001999.4(FBN2):c.7912G>T (p.Gly2638Cys)	FBN2 (G2638C)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3711340	NM_001999.4(FBN2):c.5105T>C (p.Val1702Ala)	FBN2 (V1702A)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3710584	NM_001999.4(FBN2):c.4230C>G (p.Asp1410Glu)	FBN2 (D1410E)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3709998	NM_001999.4(FBN2):c.95C>T (p.Pro32Leu)	FBN2 (P32L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GBenign
Select item 3709301	NM_001999.4(FBN2):c.1992C>T (p.Thr664=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3708559	NM_001999.4(FBN2):c.552T>C (p.Cys184=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3708253	NM_001999.4(FBN2):c.51C>T (p.Gly17=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3708212	NM_001999.4(FBN2):c.6445+12G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3708186	NM_001999.4(FBN2):c.4717+15A>G	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3707505	NM_001999.4(FBN2):c.8059G>A (p.Asp2687Asn)	FBN2 (D2687N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3706573	NM_001999.4(FBN2):c.4880-5dup	FBN2	Duplication (intron variant)	Congenital contractural arachnodactyly	GBenign
Select item 3706487	NM_001999.4(FBN2):c.1005C>G (p.Ser335=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3706336	NM_001999.4(FBN2):c.1232-13T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3705851	NM_001999.4(FBN2):c.7711+11G>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3705676	NM_001999.4(FBN2):c.2561A>G (p.Asn854Ser)	FBN2 (N854S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3705674	NM_001999.4(FBN2):c.863A>C (p.Gln288Pro)	FBN2 (Q288P)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3705020	NM_001999.4(FBN2):c.6637+11G>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3704514	NM_001999.4(FBN2):c.629-26TCTT[2]	FBN2	Microsatellite (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3704432	NM_001999.4(FBN2):c.1284G>A (p.Gly428=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GBenign
Select item 3704326	NM_001999.4(FBN2):c.3258T>C (p.Tyr1086=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GBenign
Select item 3704199	NM_001999.4(FBN2):c.3161G>C (p.Arg1054Pro)	FBN2, LOC126807501 (R1054P)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3703941	NM_001999.4(FBN2):c.6695T>C (p.Ile2232Thr)	FBN2 (I2232T)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3703932	NM_001999.4(FBN2):c.6953C>T (p.Thr2318Ile)	FBN2 (T2318I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3703858	NM_001999.4(FBN2):c.2322G>A (p.Leu774=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3703765	NM_001999.4(FBN2):c.4948+19C>A	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3703673	NM_001999.4(FBN2):c.4431G>A (p.Glu1477=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GBenign
Select item 3703479	NM_001999.4(FBN2):c.7003G>C (p.Gly2335Arg)	FBN2 (G2335R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3703025	NM_001999.4(FBN2):c.128C>T (p.Pro43Leu)	FBN2 (P43L)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3702834	NM_001999.4(FBN2):c.1480A>G (p.Thr494Ala)	FBN2 (T494A)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3702703	NM_001999.4(FBN2):c.8459A>T (p.Glu2820Val)	FBN2 (E2820V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3702614	NM_001999.4(FBN2):c.8345A>G (p.His2782Arg)	FBN2 (H2782R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3702408	NM_001999.4(FBN2):c.2095+11C>T	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3701884	NM_001999.4(FBN2):c.3473-19T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3700900	NM_001999.4(FBN2):c.493C>G (p.Gln165Glu)	FBN2 (Q165E)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3700695	NM_001999.4(FBN2):c.6514G>A (p.Val2172Ile)	FBN2 (V2172I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3700547	NM_001999.4(FBN2):c.1310C>T (p.Thr437Ile)	FBN2 (T437I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3700506	NM_001999.4(FBN2):c.8142G>C (p.Glu2714Asp)	FBN2 (E2714D)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3700493	NM_001999.4(FBN2):c.6780C>A (p.Asn2260Lys)	FBN2 (N2260K)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3700346	NM_001999.4(FBN2):c.7943A>G (p.Gln2648Arg)	FBN2 (Q2648R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3700278	NM_001999.4(FBN2):c.2555A>T (p.Asp852Val)	FBN2 (D852V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3699945	NM_001999.4(FBN2):c.1426G>A (p.Val476Met)	FBN2 (V476M)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3699714	NM_001999.4(FBN2):c.3597G>A (p.Val1199=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3698979	NM_001999.4(FBN2):c.5716G>A (p.Gly1906Ser)	FBN2 (G1906S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3698566	NM_001999.4(FBN2):c.2302+8T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3698127	NM_001999.4(FBN2):c.533-13T>C	FBN2	Single nucleotide variant (intron variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3698081	NM_001999.4(FBN2):c.3597G>T (p.Val1199=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 3697189	NM_001999.4(FBN2):c.1095G>A (p.Met365Ile)	FBN2 (M365I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance

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