ClinVar for MedGen (Select 120531) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893133	NM_000168.6(GLI3):c.4225C>T (p.Leu1409Phe)	GLI3 (L1409F)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +3 more	GUncertain significance
Select item 3893132	NM_000168.6(GLI3):c.3355G>A (p.Asp1119Asn)	GLI3 (D1119N)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +3 more	GUncertain significance
Select item 3763933	NM_000168.6(GLI3):c.3283G>A (p.Asp1095Asn)	GLI3 (D1095N)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3763769	NM_000168.6(GLI3):c.3405A>G (p.Pro1135=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3763590	NM_000168.6(GLI3):c.1217G>C (p.Ser406Thr)	GLI3 (S406T)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3763478	NM_000168.6(GLI3):c.229A>G (p.Thr77Ala)	GLI3 (T77A)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3763399	NM_000168.6(GLI3):c.680-5C>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3762440	NM_000168.6(GLI3):c.3853C>T (p.Pro1285Ser)	GLI3 (P1285S)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3762393	NM_000168.6(GLI3):c.575C>T (p.Pro192Leu)	GLI3 (P192L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3762097	NM_000168.6(GLI3):c.3534G>C (p.Lys1178Asn)	GLI3 (K1178N)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3761880	NM_000168.6(GLI3):c.1498-6C>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3761475	NM_000168.6(GLI3):c.4021G>T (p.Gly1341Cys)	GLI3 (G1341C)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3761440	NM_000168.6(GLI3):c.3363A>G (p.Lys1121=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3761027	NM_000168.6(GLI3):c.585C>T (p.Pro195=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3760893	NM_000168.6(GLI3):c.2377C>T (p.Leu793=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3760313	NM_000168.6(GLI3):c.4165T>C (p.Phe1389Leu)	GLI3 (F1389L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3759841	NM_000168.6(GLI3):c.2104-14C>G	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 3759508	NM_000168.6(GLI3):c.600_601dup (p.Met201fs)	GLI3 (M201fs)	Duplication (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 3759023	NM_000168.6(GLI3):c.667_668del (p.Ser223fs)	GLI3 (S223fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 3758927	NM_000168.6(GLI3):c.1123G>C (p.Gly375Arg)	GLI3 (G375R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3758797	NM_000168.6(GLI3):c.3957A>G (p.Gly1319=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 3758705	NM_000168.6(GLI3):c.2506G>A (p.Val836Met)	GLI3 (V836M)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3758604	NM_000168.6(GLI3):c.4353T>G (p.Ser1451Arg)	GLI3 (S1451R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3758594	NM_000168.6(GLI3):c.2386A>G (p.Ile796Val)	GLI3 (I796V)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3757726	NM_000168.6(GLI3):c.1498-4C>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3757271	NM_000168.6(GLI3):c.1647+5G>T	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3757270	NM_000168.6(GLI3):c.2833C>A (p.Leu945Met)	GLI3 (L945M)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3757145	NM_000168.6(GLI3):c.642C>G (p.Ser214=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3757019	NM_000168.6(GLI3):c.1943C>G (p.Pro648Arg)	GLI3 (P648R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3756506	NM_000168.6(GLI3):c.2624G>A (p.Arg875His)	GLI3 (R875H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3756275	NM_000168.6(GLI3):c.4510A>T (p.Ile1504Phe)	GLI3 (I1504F)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3756020	NM_000168.6(GLI3):c.830C>A (p.Thr277Asn)	GLI3 (T277N)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3755728	NM_000168.6(GLI3):c.1849_1850insTTA (p.Arg617delinsLeuSer)	GLI3	Insertion (inframe_indel)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3753587	NM_000168.6(GLI3):c.4534G>C (p.Asp1512His)	GLI3 (D1512H)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3753158	NM_000168.6(GLI3):c.2386A>C (p.Ile796Leu)	GLI3 (I796L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3753113	NM_000168.6(GLI3):c.674C>T (p.Thr225Ile)	GLI3 (T225I)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3752980	NM_000168.6(GLI3):c.4066A>T (p.Ile1356Phe)	GLI3 (I1356F)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3752913	NM_000168.6(GLI3):c.448C>T (p.Pro150Ser)	GLI3 (P150S)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3752260	NM_000168.6(GLI3):c.1623G>A (p.Thr541=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 3752134	NM_000168.6(GLI3):c.3466A>G (p.Thr1156Ala)	GLI3 (T1156A)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3751835	NM_000168.6(GLI3):c.2082C>T (p.Thr694=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GBenign
Select item 3751438	NM_000168.6(GLI3):c.4660A>G (p.Thr1554Ala)	GLI3 (T1554A)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3751306	NM_000168.6(GLI3):c.3477del (p.Ile1160fs)	GLI3 (I1160fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 3751164	NM_000168.6(GLI3):c.2991G>A (p.Ala997=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3750978	NM_000168.6(GLI3):c.3150G>A (p.Thr1050=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3750488	NM_000168.6(GLI3):c.661G>T (p.Gly221Trp)	GLI3 (G221W)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3750183	NM_000168.6(GLI3):c.3609C>T (p.Asn1203=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3749645	NM_000168.6(GLI3):c.3557C>G (p.Pro1186Arg)	GLI3 (P1186R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GLikely benign
Select item 3749534	NM_000168.6(GLI3):c.2653C>T (p.Arg885Trp)	GLI3 (R885W)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 3749299	NM_000168.6(GLI3):c.2974C>G (p.Leu992Val)	GLI3 (L992V)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GBenign
Select item 3748693	NM_000168.6(GLI3):c.2181G>C (p.Gly727=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 3748373	NM_000168.6(GLI3):c.125-10_125-4del	GLI3	Deletion (intron variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 3748319	NM_000168.6(GLI3):c.2950G>A (p.Ala984Thr)	GLI3 (A984T)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 3748308	NM_000168.6(GLI3):c.3383A>G (p.Asp1128Gly)	GLI3 (D1128G)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 3748194	NM_000168.6(GLI3):c.367+16A>C	GLI3	Single nucleotide variant (intron variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
Select item 3747966	NM_000168.6(GLI3):c.1824G>A (p.Val608=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely benign
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)	Greig cephalopolysyndactyly syndrome +3 more	GConflicting classifications of pathogenicity
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)	Greig cephalopolysyndactyly syndrome +3 more	GConflicting classifications of pathogenicity
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)	Greig cephalopolysyndactyly syndrome +3 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +4 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

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