"Revvity Omics, Revvity"[submitter] AND "GLI3"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1599452	NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys)	GLI3 (R1394C)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2690614	NM_000168.6(GLI3):c.3828del (p.Gln1277fs)	GLI3 (Q1277fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1323018	NM_000168.6(GLI3):c.3437_3453del (p.Leu1146fs)	GLI3 (L1146fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2432163	NM_000168.6(GLI3):c.3386T>C (p.Phe1129Ser)	GLI3 (F1129S)	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 2432155	NM_000168.6(GLI3):c.2867G>A (p.Arg956His)	GLI3 (R956H)	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 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 2432158	NM_000168.6(GLI3):c.2381A>G (p.Asn794Ser)	GLI3 (N794S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2432159	NM_000168.6(GLI3):c.1848G>C (p.Lys616Asn)	GLI3 (K616N)	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 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 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