Mutation Direct

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Gene: GLI2 & Disease: HPE1, 72 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
259723	GLI2	c.2108G>A	p.Arg703His (p.R703H)	NM_001374353.1 M	SNV	LB	3 +	2
	GLI2	c.2159G>A	p.Arg720His (p.R720H)	NM_001371271.1	SNV	LB	3 +	2
	GLI2	c.1733G>A	p.Arg578His (p.R578H)	NM_001374354.1	SNV	LB	3 +	2
	GLI2	c.2159G>A	p.Arg720His (p.R720H)	NM_005270.5	SNV	LB	3 +	2
331029	GLI2	c.1837_1840dup	--	NM_001374353.1 M	Dup	LB	2 +	0
331022	GLI2	c.1376_1377insACCCCC	--	NM_001374353.1 M	Ins	VUS	2 +	0
331020	GLI2	c.1376_1377insACACCCC	--	NM_001374353.1 M	Ins	VUS	2 +	0
331021	GLI2	c.1376_1377insACCC	--	NM_001374353.1 M	Ins	VUS	2 +	0
331023	GLI2	c.1376_1379dup	--	NM_001374353.1 M	Dup	VUS	2 +	0
331014	GLI2	c.*1333AC[24]	--	NM_001374353.1 M	MS	VUS	2 +	0
331016	GLI2	c.*1333AC[26]	--	NM_001374353.1 M	MS	VUS	2 +	0
331017	GLI2	c.*1333AC[21]	--	NM_001374353.1 M	MS	VUS	2 +	0
331015	GLI2	c.*1333AC[25]	--	NM_001374353.1 M	MS	VUS	2 +	0
331019	GLI2	c.*1333AC[19]	--	NM_001374353.1 M	MS	VUS	2 +	0
331011	GLI2	c.1330_1331insCTACAC	--	NM_001374353.1 M	Ins	VUS	2 +	0
331010	GLI2	c.*1330CA[4]	--	NM_001374353.1 M	MS	VUS	2 +	0
331018	GLI2	c.*1333AC[20]	--	NM_001374353.1 M	MS	VUS	2 +	0
331009	GLI2	c.1147_1148del	--	NM_001374353.1 M	Del	LB	2 +	0
331013	GLI2	c.*1333AC[23]	--	NM_001374353.1 M	MS	VUS	2 +	0
331001	GLI2	c.81_82del	--	NM_001374353.1 M	Del	VUS	2 +	0

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