ClinVar for PubMed (Select 15739154) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954234	NM_000168.6(GLI3):c.1555_1567del (p.Asp519fs)	GLI3 (D519fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2950899	NM_000168.6(GLI3):c.558del (p.Glu187fs)	GLI3 (E187fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2422508	NC_000007.13:g.(?_42017137)_(42079858_?)dup	GLI3	Duplication	Greig cephalopolysyndactyly syndrome +1 more	GLikely pathogenic
Select item 2422507	NC_000007.13:g.(?_42116331)_(42116476_?)dup	GLI3	Duplication	Greig cephalopolysyndactyly syndrome +1 more	GLikely pathogenic
Select item 2422505	NC_000007.13:g.(?_42088070)_(42088315_?)del	GLI3	Deletion	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 2082663	NM_000168.6(GLI3):c.368-2A>C	GLI3	Single nucleotide variant (splice acceptor variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely pathogenic
Select item 2061209	NM_000168.6(GLI3):c.367+1G>A	GLI3	Single nucleotide variant (splice donor variant)	Pallister-Hall syndrome +1 more	GLikely pathogenic
Select item 2038410	NM_000168.6(GLI3):c.836dup (p.Ser280fs)	GLI3 (S280fs)	Duplication (frameshift variant)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 2034968	NM_000168.6(GLI3):c.1648delT (p.Phe550fs)	GLI3 (F550fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 2033452	NM_000168.6(GLI3):c.533dup (p.His179fs)	GLI3 (H179fs)	Duplication (frameshift variant)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 2031540	NM_000168.6(GLI3):c.548del (p.Thr183fs)	GLI3 (T183fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 2022247	NM_000168.6(GLI3):c.245_299del (p.Arg82fs)	GLI3 (R82fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 2019517	NM_000168.6(GLI3):c.2146del (p.Gln716fs)	GLI3 (Q716fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 2002389	NM_000168.6(GLI3):c.368-1G>C	GLI3	Single nucleotide variant (splice acceptor variant)	Greig cephalopolysyndactyly syndrome +1 more	GLikely pathogenic
Select item 1459507	NC_000007.13:g.(?_39726267)_(42262852_?)del	CDK13, GLI3 +4 more	Deletion	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 1381542	NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter)	GLI3 (Q1503*)	Single nucleotide variant (nonsense)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 1358687	NM_000168.6(GLI3):c.602_675del (p.Met201fs)	GLI3 (M201fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 1348269	NC_000007.13:g.(?_42063047)_(42066031_?)dup	GLI3	Duplication	Greig cephalopolysyndactyly syndrome +1 more	GLikely pathogenic
Select item 1072899	NM_000168.6(GLI3):c.2090del (p.Ala697fs)	GLI3 (A697fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 1072387	NC_000007.13:g.(?_42116331)_(42188087_?)del	GLI3	Deletion	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 1070264	NC_000007.13:g.(?_42187805)_(42262872_?)del	GLI3	Deletion	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 1067943	NM_000168.6(GLI3):c.827-2A>G	GLI3	Single nucleotide variant (splice acceptor variant)	Pallister-Hall syndrome +1 more	GLikely pathogenic
Select item 985146	NM_000168.6(GLI3):c.2773C>T (p.Gln925Ter)	GLI3 (Q925*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 951633	NM_000168.6(GLI3):c.2720del (p.Ser907fs)	GLI3 (S907fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 864278	NM_000168.6(GLI3):c.91G>T (p.Glu31Ter)	GLI3 (E31*)	Single nucleotide variant (nonsense)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 857479	NM_000168.6(GLI3):c.877_881del (p.Thr293fs)	GLI3 (T293fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 839677	NM_000168.6(GLI3):c.1497+1G>A	GLI3	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 835724	NM_000168.6(GLI3):c.885del (p.Ile296fs)	GLI3 (I296fs)	Deletion (frameshift variant)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 664752	NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)	GLI3 (R366*)	Single nucleotide variant (nonsense)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 651052	NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer)	GLI3	Deletion (nonsense)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 645072	NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)	GLI3 (Y251*)	Single nucleotide variant (nonsense)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 578154	NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)	GLI3 (W484*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome +1 more	GPathogenic
Select item 528805	NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)	GLI3 (R625Q)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GPathogenic
Select item 528802	NM_000168.6(GLI3):c.1028+1G>A	GLI3	Single nucleotide variant (splice donor variant)	Greig cephalopolysyndactyly syndrome +2 more	GPathogenic/Likely pathogenic
Select item 528800	NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)	GLI3 (Y1108*)	Single nucleotide variant (nonsense)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 459207	NM_000168.6(GLI3):c.1878del (p.Lys626fs)	GLI3 (K626fs)	Deletion (frameshift variant)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 13828	NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)	GLI3 (R792*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome +3 more	GPathogenic
Select item 13826	NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)	GLI3 (R290*)	Single nucleotide variant (nonsense)	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 13824	NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)	GLI3 (R625W)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome	GLikely pathogenic
Select item 13823	NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314	GLI3	Insertion	Pallister-Hall syndrome	GPathogenic

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Items: 40