"3billion"[submitter] AND "GLI3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320114	NM_000168.6(GLI3):c.3325G>T (p.Glu1109Ter)	GLI3 (E1109*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome	GPathogenic
Select item 1320134	NM_000168.6(GLI3):c.2598del (p.Ile867fs)	GLI3 (I867fs)	Deletion (frameshift variant)	Pallister-Hall syndrome	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 1687456	NM_000168.6(GLI3):c.1693del (p.Thr565fs)	GLI3 (T565fs)	Deletion (frameshift variant)	Polydactyly, postaxial, type A1	GLikely pathogenic
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 1687416	NM_000168.6(GLI3):c.1366G>T (p.Glu456Ter)	GLI3 (E456*)	Single nucleotide variant (nonsense)	Pallister-Hall syndrome	GLikely pathogenic

ClinVar