Related gene-specific medical variations for Gene (Select 2737) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361431	NM_000168.6(GLI3):c.4581C>G (p.Ile1527Met)	GLI3 (I1527M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361352	NM_000168.6(GLI3):c.4534G>A (p.Asp1512Asn)	GLI3 (D1512N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360230	NM_000168.6(GLI3):c.337C>T (p.Pro113Ser)	GLI3 (P113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359585	NM_000168.6(GLI3):c.4240C>T (p.Gln1414Ter)	GLI3 (Q1414*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3064464	NM_000168.6(GLI3):c.2774A>C (p.Gln925Pro)	GLI3 (Q925P)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome	GUncertain significance
Select item 3062998	GRCh37/hg19 7p14.1(chr7:41942712-42378563)x3	GLI3	Copy number gain	not specified	GUncertain significance
Select item 3062976	GRCh37/hg19 7p14.1(chr7:42034018-42195168)x1	GLI3	Copy number loss	not specified	GPathogenic
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 2690614	NM_000168.6(GLI3):c.3828del (p.Gln1277fs)	GLI3 (Q1277fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2689136	NM_000168.6(GLI3):c.1946G>A (p.Arg649Gln)	GLI3 (R649Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672276	NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)	GLI3 (A803P)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome	GBenign
Select item 2432163	NM_000168.6(GLI3):c.3386T>C (p.Phe1129Ser)	GLI3 (F1129S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432162	NM_000168.6(GLI3):c.3397G>A (p.Gly1133Arg)	GLI3 (G1133R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432161	NM_000168.6(GLI3):c.4411G>A (p.Gly1471Arg)	GLI3 (G1471R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432160	NM_000168.6(GLI3):c.1097_1099del (p.Arg366del)	GLI3 (R366del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2432159	NM_000168.6(GLI3):c.1848G>C (p.Lys616Asn)	GLI3 (K616N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432158	NM_000168.6(GLI3):c.2381A>G (p.Asn794Ser)	GLI3 (N794S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432157	NM_000168.6(GLI3):c.687T>A (p.His229Gln)	GLI3 (H229Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432156	NM_000168.6(GLI3):c.632C>T (p.Pro211Leu)	GLI3 (P211L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432155	NM_000168.6(GLI3):c.2867G>A (p.Arg956His)	GLI3 (R956H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432154	NM_000168.6(GLI3):c.491G>A (p.Ser164Asn)	GLI3 (S164N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432153	NM_000168.6(GLI3):c.426T>A (p.His142Gln)	GLI3 (H142Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432152	NM_000168.6(GLI3):c.2845G>A (p.Glu949Lys)	GLI3 (E949K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432151	NM_000168.6(GLI3):c.2875C>G (p.Leu959Val)	GLI3 (L959V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703525	GRCh37/hg19 7p14.1(chr7:42115857-42116915)	GLI3	Copy number loss	Greig cephalopolysyndactyly syndrome	GPathogenic
Select item 1696666	NM_000168.6(GLI3):c.3586G>C (p.Gly1196Arg)	GLI3 (G1196R)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +1 more	GUncertain significance
Select item 1527357	GRCh37/hg19 7p14.1(chr7:41986326-42216822)	GLI3	Copy number loss	not specified	GPathogenic
Select item 1224445	NM_000168.6(GLI3):c.100G>A (p.Val34Ile)	GLI3 (V34I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224339	NM_000168.6(GLI3):c.4194_4204del (p.Arg1399fs)	GLI3 (R1399fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 987275	NM_000168.6(GLI3):c.3624dup (p.Pro1209fs)	GLI3 (P1209fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 987218	NM_000168.6(GLI3):c.2647G>T (p.Glu883Ter)	GLI3 (E883*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 972686	NM_000168.6(GLI3):c.4430_4439del (p.Ser1477fs)	GLI3 (S1477fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome	GPathogenic
Select item 932002	NM_000168.6(GLI3):c.1315C>T (p.Pro439Ser)	GLI3 (P439S)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome	GUncertain significance
Select item 685344	GRCh37/hg19 7p14.1(chr7:42174178-42319482)x3	GLI3	Copy number gain	not provided	GUncertain significance
Select item 624278	NM_000168.6(GLI3):c.4037_4046dup (p.Ser1349delinsArgAlaAspTer)	GLI3	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 591931	NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer)	GLI3	Indel (missense variant)	not provided	GUncertain significance
Select item 563348	GRCh37/hg19 7p14.1(chr7:42255311-42634746)x3	GLI3	Copy number gain	not provided	GUncertain significance
Select item 563282	GRCh37/hg19 7p14.1(chr7:42156923-42225427)x1	GLI3	Copy number loss	not provided	GLikely pathogenic
Select item 523635	NM_000168.6(GLI3):c.750del (p.Tyr251fs)	GLI3 (Y251fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome	GPathogenic
Select item 395002	GRCh37/hg19 7p14.1(chr7:42226378-42239808)x3	GLI3	Copy number gain	See cases	GBenign
Select item 394643	GRCh37/hg19 7p14.1(chr7:42226378-42244825)x3	GLI3	Copy number gain	See cases	GBenign/Likely benign
Select item 255449	NM_000168.6(GLI3):c.743G>A (p.Arg248His)	GLI3 (R248H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 255448	NM_000168.6(GLI3):c.680-25C>T	GLI3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255447	NM_000168.6(GLI3):c.679+40C>A	GLI3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255444	NM_000168.6(GLI3):c.528C>G (p.Ile176Met)	GLI3 (I176M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 255435	NM_000168.6(GLI3):c.3312C>T (p.Asn1104=)	GLI3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 255431	NM_000168.6(GLI3):c.2432-30C>T	GLI3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255425	NM_000168.6(GLI3):c.1813-47G>A	GLI3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 255423	NM_000168.6(GLI3):c.1498-44G>A	GLI3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 255418	NM_000168.6(GLI3):c.1242+42C>G	GLI3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255417	NM_000168.6(GLI3):c.1242+25C>T	GLI3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255412	NM_000168.6(GLI3):c.*15dup	GLI3	Duplication (3 prime UTR variant)	not specified	GLikely benign
Select item 208178	NM_000168.6(GLI3):c.1812+3A>T	GLI3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 38323	NM_000168.6(GLI3):c.3324C>G (p.Tyr1108Ter)	GLI3 (Y1108*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 13816	GLI3, CODON 764, FS	GLI3	Variation	Polydactyly, postaxial, type A1	GPathogenic

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Links from Gene

Items: 58