ClinVar for MedGen (Select 120514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594698	NM_000168.6(GLI3):c.76C>T (p.Arg26Ter)	GLI3 (R26*)	Single nucleotide variant (nonsense)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594697	NM_000168.6(GLI3):c.100G>T (p.Val34Phe)	GLI3 (V34F)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594696	NM_000168.6(GLI3):c.232T>G (p.Ser78Ala)	GLI3 (S78A)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594695	NM_000168.6(GLI3):c.308C>T (p.Pro103Leu)	GLI3 (P103L)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594694	NM_000168.6(GLI3):c.367+4A>G	GLI3	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594693	NM_000168.6(GLI3):c.378T>A (p.His126Gln)	GLI3 (H126Q)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594692	NM_000168.6(GLI3):c.446A>T (p.Asp149Val)	GLI3 (D149V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594691	NM_000168.6(GLI3):c.655A>G (p.Thr219Ala)	GLI3 (T219A)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594690	NM_000168.6(GLI3):c.680C>T (p.Ala227Val)	GLI3 (A227V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594689	NM_000168.6(GLI3):c.715_735del (p.His239_Thr245del)	GLI3	Deletion	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594688	NM_000168.6(GLI3):c.746G>A (p.Ser249Asn)	GLI3 (S249N)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594687	NM_000168.6(GLI3):c.784G>A (p.Gly262Ser)	GLI3 (G262S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594686	NM_000168.6(GLI3):c.814C>T (p.His272Tyr)	GLI3 (H272Y)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594685	NM_000168.6(GLI3):c.992G>A (p.Ser331Asn)	GLI3 (S331N)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594684	NM_000168.6(GLI3):c.1075A>G (p.Met359Val)	GLI3 (M359V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594683	NM_000168.6(GLI3):c.1086G>T (p.Gln362His)	GLI3 (Q362H)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594682	NM_000168.6(GLI3):c.1185G>T (p.Gly395=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594681	NM_000168.6(GLI3):c.1195G>C (p.Val399Leu)	GLI3 (V399L)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594680	NM_000168.6(GLI3):c.1235C>A (p.Ser412Tyr)	GLI3 (S412Y)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594679	NM_000168.6(GLI3):c.1323A>C (p.Glu441Asp)	GLI3 (E441D)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594678	NM_000168.6(GLI3):c.1330C>T (p.Pro444Ser)	GLI3 (P444S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594677	NM_000168.6(GLI3):c.1401A>T (p.Lys467Asn)	GLI3 (K467N)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594676	NM_000168.6(GLI3):c.1496A>G (p.His499Arg)	GLI3 (H499R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594675	NM_000168.6(GLI3):c.1519C>G (p.His507Asp)	GLI3 (H507D)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594674	NM_000168.6(GLI3):c.1562C>T (p.Ser521Leu)	GLI3 (S521L)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594673	NM_000168.6(GLI3):c.1756G>C (p.Ala586Pro)	GLI3 (A586P)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594672	NM_000168.6(GLI3):c.1791A>G (p.Gln597=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594671	NM_000168.6(GLI3):c.1808A>G (p.Asn603Ser)	GLI3 (N603S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594670	NM_000168.6(GLI3):c.1822G>A (p.Val608Met)	GLI3 (V608M)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594669	NM_000168.6(GLI3):c.1948C>A (p.Pro650Thr)	GLI3 (P650T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594668	NM_000168.6(GLI3):c.2029C>G (p.Gln677Glu)	GLI3 (Q677E)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594667	NM_000168.6(GLI3):c.2039G>A (p.Ser680Asn)	GLI3 (S680N)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594666	NM_000168.6(GLI3):c.2042A>G (p.Asn681Ser)	GLI3 (N681S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594665	NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)	GLI3 (R686W)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594664	NM_000168.6(GLI3):c.2096A>C (p.Lys699Thr)	GLI3 (K699T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594663	NM_000168.6(GLI3):c.2101A>G (p.Met701Val)	GLI3 (M701V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594662	NM_000168.6(GLI3):c.2200G>T (p.Asp734Tyr)	GLI3 (D734Y)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594661	NM_000168.6(GLI3):c.2305C>T (p.Pro769Ser)	GLI3 (P769S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594660	NM_000168.6(GLI3):c.2452T>C (p.Cys818Arg)	GLI3 (C818R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594659	NM_000168.6(GLI3):c.2465G>A (p.Gly822Glu)	GLI3 (G822E)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594658	NM_000168.6(GLI3):c.2494G>C (p.Asp832His)	GLI3 (D832H)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594657	NM_000168.6(GLI3):c.2507T>A (p.Val836Glu)	GLI3 (V836E)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594656	NM_000168.6(GLI3):c.2532C>T (p.Leu844=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594655	NM_000168.6(GLI3):c.2587C>A (p.Arg863Ser)	GLI3 (R863S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594654	NM_000168.6(GLI3):c.2651G>A (p.Gly884Asp)	GLI3 (G884D)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594653	NM_000168.6(GLI3):c.2667G>A (p.Val889=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594652	NM_000168.6(GLI3):c.2767C>A (p.Pro923Thr)	GLI3 (P923T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594651	NM_000168.6(GLI3):c.2795A>G (p.Lys932Arg)	GLI3 (K932R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594650	NM_000168.6(GLI3):c.2883G>T (p.Gly961=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594649	NM_000168.6(GLI3):c.2948G>A (p.Gly983Glu)	GLI3 (G983E)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594648	NM_000168.6(GLI3):c.2966G>A (p.Arg989Gln)	GLI3 (R989Q)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594647	NM_000168.6(GLI3):c.2968C>T (p.Arg990Cys)	GLI3 (R990C)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594646	NM_000168.6(GLI3):c.2992C>G (p.Pro998Ala)	GLI3 (P998A)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594645	NM_000168.6(GLI3):c.3059G>A (p.Arg1020His)	GLI3 (R1020H)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594644	NM_000168.6(GLI3):c.3074G>A (p.Ser1025Asn)	GLI3 (S1025N)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594643	NM_000168.6(GLI3):c.3079_3087dup (p.Ser1029_Cys1030insLeuSerSer)	GLI3	Duplication	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594642	NM_000168.6(GLI3):c.3203G>C (p.Ser1068Thr)	GLI3 (S1068T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594641	NM_000168.6(GLI3):c.3211G>A (p.Glu1071Lys)	GLI3 (E1071K)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594640	NM_000168.6(GLI3):c.3232C>G (p.Leu1078Val)	GLI3 (L1078V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594639	NM_000168.6(GLI3):c.3305C>G (p.Ser1102Cys)	GLI3 (S1102C)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594638	NM_000168.6(GLI3):c.3342C>A (p.Ser1114Arg)	GLI3 (S1114R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594637	NM_000168.6(GLI3):c.3354C>G (p.Asp1118Glu)	GLI3 (D1118E)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594636	NM_000168.6(GLI3):c.3391G>A (p.Ala1131Thr)	GLI3 (A1131T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594635	NM_000168.6(GLI3):c.3393G>T (p.Ala1131=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594634	NM_000168.6(GLI3):c.3436C>T (p.Leu1146Phe)	GLI3 (L1146F)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594633	NM_000168.6(GLI3):c.3451C>A (p.Pro1151Thr)	GLI3 (P1151T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594632	NM_000168.6(GLI3):c.3508_3509delinsAG (p.Ala1170Ser)	GLI3 (A1170S)	Indel (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594631	NM_000168.6(GLI3):c.3589A>G (p.Met1197Val)	GLI3 (M1197V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594630	NM_000168.6(GLI3):c.3614T>C (p.Leu1205Ser)	GLI3 (L1205S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594629	NM_000168.6(GLI3):c.3622G>A (p.Gly1208Arg)	GLI3 (G1208R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GLikely benign
Select item 3594628	NM_000168.6(GLI3):c.3649G>C (p.Gly1217Arg)	GLI3 (G1217R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594627	NM_000168.6(GLI3):c.3715A>G (p.Thr1239Ala)	GLI3 (T1239A)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594626	NM_000168.6(GLI3):c.3746G>A (p.Cys1249Tyr)	GLI3 (C1249Y)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594625	NM_000168.6(GLI3):c.3752C>T (p.Ala1251Val)	GLI3 (A1251V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594624	NM_000168.6(GLI3):c.3755C>G (p.Pro1252Arg)	GLI3 (P1252R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594623	NM_000168.6(GLI3):c.3799G>A (p.Ala1267Thr)	GLI3 (A1267T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594622	NM_000168.6(GLI3):c.3821C>T (p.Ala1274Val)	GLI3 (A1274V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594621	NM_000168.6(GLI3):c.3853C>A (p.Pro1285Thr)	GLI3 (P1285T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594620	NM_000168.6(GLI3):c.3985G>C (p.Gly1329Arg)	GLI3 (G1329R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594619	NM_000168.6(GLI3):c.3988G>A (p.Asp1330Asn)	GLI3 (D1330N)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594618	NM_000168.6(GLI3):c.4009G>T (p.Ala1337Ser)	GLI3 (A1337S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594617	NM_000168.6(GLI3):c.4032G>A (p.Met1344Ile)	GLI3 (M1344I)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594616	NM_000168.6(GLI3):c.4033C>T (p.Leu1345Phe)	GLI3 (L1345F)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594615	NM_000168.6(GLI3):c.4088G>A (p.Cys1363Tyr)	GLI3 (C1363Y)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594614	NM_000168.6(GLI3):c.4110G>A (p.Met1370Ile)	GLI3 (M1370I)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594613	NM_000168.6(GLI3):c.4120C>T (p.Pro1374Ser)	GLI3 (P1374S)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594612	NM_000168.6(GLI3):c.4145G>T (p.Gly1382Val)	GLI3 (G1382V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594611	NM_000168.6(GLI3):c.4208C>A (p.Ala1403Asp)	GLI3 (A1403D)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594610	NM_000168.6(GLI3):c.4267A>C (p.Met1423Leu)	GLI3 (M1423L)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594609	NM_000168.6(GLI3):c.4284G>T (p.Gln1428His)	GLI3 (Q1428H)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594608	NM_000168.6(GLI3):c.4318T>C (p.Ser1440Pro)	GLI3 (S1440P)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594607	NM_000168.6(GLI3):c.4352G>A (p.Ser1451Asn)	GLI3 (S1451N)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594606	NM_000168.6(GLI3):c.4394C>T (p.Ala1465Val)	GLI3 (A1465V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594605	NM_000168.6(GLI3):c.4447G>C (p.Gly1483Arg)	GLI3 (G1483R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594604	NM_000168.6(GLI3):c.4451C>T (p.Ala1484Val)	GLI3 (A1484V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594603	NM_000168.6(GLI3):c.4455T>A (p.Asn1485Lys)	GLI3 (N1485K)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594602	NM_000168.6(GLI3):c.4542C>G (p.Asp1514Glu)	GLI3 (D1514E)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594601	NM_000168.6(GLI3):c.4598A>G (p.His1533Arg)	GLI3 (H1533R)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594600	NM_000168.6(GLI3):c.4652C>G (p.Ser1551Cys)	GLI3 (S1551C)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 3594599	NM_000168.6(GLI3):c.4736T>C (p.Met1579Thr)	GLI3 (M1579T)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance

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