ClinVar for MedGen (Select 924305) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235912	NM_000168.6(GLI3):c.2501C>T (p.Ser834Phe)	GLI3 (S834F)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +3 more	GUncertain significance
Select item 3235005	NM_000168.6(GLI3):c.3816_3817del (p.Cys1272fs)	GLI3 (C1272fs)	Microsatellite (frameshift variant)	Polydactyly, postaxial, type A1	GUncertain significance
Select item 3067137	NM_000168.6(GLI3):c.2151del (p.Gln717fs)	GLI3 (Q717fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +3 more	GLikely pathogenic
Select item 3062311	NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs)	GLI3 (G961fs)	Duplication (frameshift variant)	Polysyndactyly 4 +3 more	GLikely pathogenic
Select item 3062247	NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs)	GLI3 (S445fs)	Duplication (frameshift variant)	Polysyndactyly 4 +3 more	GLikely pathogenic
Select item 2585479	NM_000168.6(GLI3):c.1846A>G (p.Lys616Glu)	GLI3 (K616E)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1	GUncertain significance
Select item 1687456	NM_000168.6(GLI3):c.1693del (p.Thr565fs)	GLI3 (T565fs)	Deletion (frameshift variant)	Polydactyly, postaxial, type A1	GLikely pathogenic
Select item 1679363	NM_000168.6(GLI3):c.4346del (p.Gly1449fs)	GLI3 (G1449fs)	Deletion (frameshift variant)	Polydactyly, postaxial, type A1	GLikely pathogenic
Select item 1679289	NM_000168.6(GLI3):c.250T>C (p.Ser84Pro)	GLI3 (S84P)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1	GUncertain significance
Select item 1652942	NM_000168.6(GLI3):c.1740C>T (p.His580=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +3 more	GLikely benign
Select item 1595657	NM_000168.6(GLI3):c.367+20G>A	GLI3	Single nucleotide variant (intron variant)	Greig cephalopolysyndactyly syndrome +3 more	GLikely benign
Select item 1594787	NM_000168.6(GLI3):c.246G>A (p.Arg82=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +3 more	GLikely benign
Select item 1526126	NM_000168.6(GLI3):c.1459T>G (p.Cys487Gly)	GLI3 (C487G)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1	GUncertain significance
Select item 1464071	NM_000168.6(GLI3):c.3864G>A (p.Gly1288=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +3 more	GLikely benign
Select item 1448811	NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu)	GLI3 (P1186L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1447837	NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile)	GLI3 (N1476I)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1405645	NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu)	GLI3 (P1431L)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1388744	NM_000168.6(GLI3):c.2520G>A (p.Met840Ile)	GLI3 (M840I)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GUncertain significance
Select item 1376301	NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp)	GLI3 (A1396D)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +3 more	GUncertain significance
Select item 1343294	NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)	GLI3 (S78L)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1313978	NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys)	GLI3 (E509K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1254627	NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg)	GLI3 (P1052R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1172546	NM_000168.6(GLI3):c.758A>G (p.Asp253Gly)	GLI3 (D253G)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1	GUncertain significance
Select item 1139009	NM_000168.6(GLI3):c.528C>T (p.Ile176=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +3 more	GLikely benign
Select item 1120244	NM_000168.6(GLI3):c.2059del (p.Glu687fs)	GLI3 (E687fs)	Deletion (frameshift variant)	Polydactyly, postaxial, type A1	GPathogenic
Select item 1120242	NM_000168.6(GLI3):c.1880A>C (p.His627Pro)	GLI3 (H627P)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1	GLikely pathogenic
Select item 1120240	NM_000168.6(GLI3):c.2594C>G (p.Ser865Ter)	GLI3 (S865*)	Single nucleotide variant (nonsense)	Polydactyly, postaxial, type A1 +1 more	GPathogenic/Likely pathogenic
Select item 1120239	NM_000168.6(GLI3):c.2103+2T>A	GLI3	Single nucleotide variant (splice donor variant)	Polydactyly, postaxial, type A1	GPathogenic
Select item 1120238	NM_000168.6(GLI3):c.1033_1048del (p.Ala345fs)	GLI3 (A345fs)	Deletion (frameshift variant)	Polydactyly, postaxial, type A1	GPathogenic
Select item 1120237	NM_000168.6(GLI3):c.650C>G (p.Ser217Ter)	GLI3 (S217*)	Single nucleotide variant (nonsense)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 1120236	NM_000168.6(GLI3):c.366C>A (p.Tyr122Ter)	GLI3 (Y122*)	Single nucleotide variant (nonsense)	Polydactyly, postaxial, type A1	GPathogenic
Select item 1120234	NM_000168.6(GLI3):c.1880_1881del (p.His627fs)	GLI3 (H627fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome +4 more	GPathogenic
Select item 1056916	NM_000168.6(GLI3):c.199G>A (p.Gly67Arg)	GLI3 (G67R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GUncertain significance
Select item 1040568	NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)	GLI3 (P1204R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 983316	NM_000168.6(GLI3):c.3734A>G (p.His1245Arg)	GLI3 (H1245R)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +4 more	GUncertain significance
Select item 976534	NM_000168.6(GLI3):c.240C>T (p.Asp80=)	GLI3	Single nucleotide variant (synonymous variant)	Polysyndactyly 4 +3 more	GLikely benign
Select item 967676	NM_000168.6(GLI3):c.658C>T (p.Arg220Cys)	GLI3 (R220C)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 946179	NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile)	GLI3 (M1197I)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 941293	NM_000168.6(GLI3):c.4597C>A (p.His1533Asn)	GLI3 (H1533N)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GUncertain significance
Select item 911320	NM_000168.6(GLI3):c.288C>T (p.His96=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +5 more	GBenign/Likely benign
Select item 910085	NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr)	GLI3 (A353T)	Single nucleotide variant (missense variant)	Polydactyly +4 more	GUncertain significance
Select item 910024	NM_000168.6(GLI3):c.1540G>A (p.Val514Met)	GLI3 (V514M)	Single nucleotide variant (missense variant)	Polydactyly +4 more	GUncertain significance
Select item 909854	NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu)	GLI3 (P1093L)	Single nucleotide variant (missense variant)	Polydactyly +4 more	GUncertain significance
Select item 908916	NM_000168.6(GLI3):c.4008G>A (p.Gly1336=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +4 more	GLikely benign
Select item 851460	NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val)	GLI3 (A1570V)	Single nucleotide variant (missense variant)	Polysyndactyly 4 +3 more	GUncertain significance
Select item 847531	NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu)	GLI3 (Q1503L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 842269	NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys)	GLI3 (R875C)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 842114	NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val)	GLI3 (L1293V)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 833931	NM_000168.6(GLI3):c.506C>T (p.Pro169Leu)	GLI3 (P169L)	Single nucleotide variant (missense variant)	Polysyndactyly 4 +3 more	GLikely benign
Select item 810088	NM_000168.6(GLI3):c.974G>A (p.Arg325His)	GLI3 (R325H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 779005	NM_000168.6(GLI3):c.168C>T (p.Asn56=)	GLI3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 779004	NM_000168.6(GLI3):c.3261C>T (p.Asn1087=)	GLI3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 767330	NM_000168.6(GLI3):c.2706C>T (p.Ala902=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GLikely benign
Select item 767112	NM_000168.6(GLI3):c.3054G>A (p.Leu1018=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GLikely benign
Select item 767089	NM_000168.6(GLI3):c.30C>T (p.Thr10=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type A1 +3 more	GLikely benign
Select item 756660	NM_000168.6(GLI3):c.252A>G (p.Ser84=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +3 more	GLikely benign
Select item 727653	NM_000168.6(GLI3):c.1357-9T>A	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +3 more	GLikely benign
Select item 727403	NM_000168.6(GLI3):c.2307G>A (p.Pro769=)	GLI3	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 714397	NM_000168.6(GLI3):c.4089C>T (p.Cys1363=)	GLI3	Single nucleotide variant (synonymous variant)	Polysyndactyly 4 +3 more	GLikely benign
Select item 704397	NM_000168.6(GLI3):c.1365C>T (p.Pro455=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +3 more	GBenign/Likely benign
Select item 656238	NM_000168.6(GLI3):c.781G>A (p.Ala261Thr)	GLI3 (A261T)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +4 more	GConflicting classifications of pathogenicity
Select item 648336	NM_000168.6(GLI3):c.1024A>G (p.Ile342Val)	GLI3 (I342V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 643390	NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)	GLI3 (R180Q)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 638151	NM_001692.4(ATP6V1B1):c.175-1G>C	ATP6V1B1	Single nucleotide variant (splice acceptor variant)	ATP6V1B1-related disorder +3 more	GPathogenic
Select item 638150	NM_152558.5(IQCE):c.1350_1353del	IQCE	Microsatellite (splice acceptor variant)	Polydactyly, postaxial, type A1	GPathogenic
Select item 638149	NM_152558.5(IQCE):c.895_904del (p.Val301fs)	IQCE (V285fs +2 more)	Deletion (frameshift variant)	Brachydactyly +4 more	GPathogenic
Select item 624279	NM_000168.6(GLI3):c.2881G>A (p.Gly961Arg)	GLI3 (G961R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 599403	NM_001145678.3(KIAA0825):c.591dup (p.Gln198fs)	KIAA0825 (Q198fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive nonsyndromic postaxial polydactyly +2 more	GPathogenic/Likely pathogenic
Select item 599402	NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter)	KIAA0825 (K725*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 596045	NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr)	GLI3 (N725T)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +4 more	GConflicting classifications of pathogenicity
Select item 528802	NM_000168.6(GLI3):c.1028+1G>A	GLI3	Single nucleotide variant (splice donor variant)	Pallister-Hall syndrome +2 more	GPathogenic/Likely pathogenic
Select item 523463	NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr)	OFD1 (A667T +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 23 +4 more	GUncertain significance
Select item 523401	NM_001378615.1(CC2D2A):c.1149+1G>A	CC2D2A	Single nucleotide variant (splice donor variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 517140	NM_000168.6(GLI3):c.1343C>T (p.Ala448Val)	GLI3 (A448V)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +3 more	GUncertain significance
Select item 498507	NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys)	GLI3 (T1540K)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +4 more	GUncertain significance
Select item 497483	NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys)	GLI3 (R847K)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +4 more	GConflicting classifications of pathogenicity
Select item 459212	NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg)	GLI3 (G1275R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 459208	NM_000168.6(GLI3):c.211G>A (p.Val71Ile)	GLI3 (V71I)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +4 more	GLikely benign
Select item 435332	NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly)	GLI3 (D1095G)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 423252	NM_000168.6(GLI3):c.3140_3141delinsCA (p.Gln1047Pro)	GLI3 (Q1047P)	Indel (missense variant)	Polysyndactyly 4 +4 more	GUncertain significance
Select item 393462	NM_000168.6(GLI3):c.3635del (p.Gly1212fs)	GLI3 (G1212fs)	Deletion (frameshift variant)	Polydactyly, postaxial, type A1	GPathogenic
Select item 375458	NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu)	GLI3 (R667L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 374325	NM_000168.6(GLI3):c.2252del (p.Asp751fs)	GLI3 (D751fs)	Deletion (frameshift variant)	Polydactyly, postaxial, type A1	GPathogenic
Select item 360264	NM_000168.6(GLI3):c.-42-11G>C	GLI3	Single nucleotide variant (intron variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360261	NM_000168.6(GLI3):c.280C>T (p.Leu94=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360260	NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)	GLI3 (R114K)	Single nucleotide variant (missense variant)	Polydactyly +6 more	GBenign/Likely benign
Select item 360257	NM_000168.6(GLI3):c.411T>C (p.Ile137=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +5 more	GLikely benign
Select item 360256	NM_000168.6(GLI3):c.444C>T (p.Tyr148=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360255	NM_000168.6(GLI3):c.474-4C>T	GLI3	Single nucleotide variant (intron variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360254	NM_000168.6(GLI3):c.501G>A (p.Thr167=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360247	NM_000168.6(GLI3):c.1028+15G>A	GLI3	Single nucleotide variant (intron variant)	Greig cephalopolysyndactyly syndrome +4 more	GBenign/Likely benign
Select item 360244	NM_000168.6(GLI3):c.1647+13G>A	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +5 more	GBenign/Likely benign
Select item 360243	NM_000168.6(GLI3):c.1800G>A (p.Thr600=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +5 more	GBenign/Likely benign
Select item 360229	NM_000168.6(GLI3):c.3598C>G (p.His1200Asp)	GLI3 (H1200D)	Single nucleotide variant (missense variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360226	NM_000168.6(GLI3):c.4005G>A (p.Pro1335=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +6 more	GBenign/Likely benign
Select item 360222	NM_000168.6(GLI3):c.4524C>T (p.Ala1508=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +4 more	GBenign/Likely benign
Select item 360221	NM_000168.6(GLI3):c.4533C>T (p.Asp1511=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +4 more	GLikely benign
Select item 287768	NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile)	GLI3 (S1028I)	Indel (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 286374	NM_000168.6(GLI3):c.223C>G (p.Pro75Ala)	GLI3 (P75A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 282264	NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)	GLI3 (D734N)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type A1 +5 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2