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Gene: ARHGEF6 & Disease: Non-Syndromic X-Linked Intellectual Disability, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
210253	ARHGEF6	c.685G>A	p.Val229Ile (p.V229I)	NM_004840.3 M	SNV	LB	1 +	2
210253	ARHGEF6	c.223G>A	p.Val75Ile (p.V75I)	NM_001306177.2	SNV	LB	1 +	2
367925	ARHGEF6	c.*1817dup	--	NM_004840.3 M	Dup	LB	1 +	0
367934	ARHGEF6	c.*197GTT[1]	--	NM_004840.3 M	MS	LB	1 +	0
367939	ARHGEF6	c.131_134del	--	NM_004840.3 M	Del	LB	1 +	0
367940	ARHGEF6	c.*109TC[6]	--	NM_004840.3 M	MS	VUS	1 +	0
367925	ARHGEF6	c.*1817dup	--	NM_001306177.2	Dup	LB	1 +	0
367934	ARHGEF6	c.*197GTT[1]	--	NM_001306177.2	MS	LB	1 +	0
367939	ARHGEF6	c.131_134del	--	NM_001306177.2	Del	LB	1 +	0
367940	ARHGEF6	c.*109TC[6]	--	NM_001306177.2	MS	VUS	1 +	0

10 Results, 20 per Page

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