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Mutation Direct

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Gene: PHKG2 & Disease: GSDIX, 28 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2445869	PHKG2	c.925C>T	p.Arg309Trp (p.R309W)	NM_000294.3 M	SNV	LP	1 +	3
2445869	PHKG2	c.925C>T	p.Arg309Trp (p.R309W)	NM_001172432.2	SNV	LP	1 +	3
318932	PHKG2	c.83A>T	p.Asp28Val (p.D28V)	NM_000294.3 M	SNV	VUS	2 +	1
318932	PHKG2	c.83A>T	p.Asp28Val (p.D28V)	NM_001172432.2	SNV	VUS	2 +	1
318939	PHKG2	c.556+4_556+5dup	--	NM_000294.3 M	Dup	VUS	1 +	0
318929	PHKG2	c.-70C>T	--	NM_000294.3 M	SNV	VUS	1 +	0
318945	PHKG2	c.*590G>A	--	NM_000294.3 M	SNV	LB	1 +	0
318949	PHKG2	c.*2539T>C	--	NM_000294.3 M	SNV	LB	1 +	0
318943	PHKG2	c.*211C>T	--	NM_000294.3 M	SNV	VUS	1 +	0
318944	PHKG2	c.*546C>T	--	NM_000294.3 M	SNV	VUS	1 +	0
318946	PHKG2	c.*846A>G	--	NM_000294.3 M	SNV	VUS	1 +	0
318947	PHKG2	c.*1135C>T	--	NM_000294.3 M	SNV	VUS	1 +	0
318948	PHKG2	c.*2154G>A	--	NM_000294.3 M	SNV	VUS	1 +	0
318950	PHKG2	c.*2585G>A	--	NM_000294.3 M	SNV	VUS	1 +	0
318951	PHKG2	c.*3879A>G	--	NM_000294.3 M	SNV	VUS	1 +	0
318952	PHKG2	c.*3988T>C	--	NM_000294.3 M	SNV	VUS	1 +	0
318939	PHKG2	c.556+4_556+5dup	--	NM_001172432.2	Dup	VUS	1 +	0
318929	PHKG2	c.-70C>T	--	NM_001172432.2	SNV	VUS	1 +	0
318945	PHKG2	c.1083+728G>A	--	NM_001172432.2	SNV	LB	1 +	0
318949	PHKG2	c.1084-483T>C	--	NM_001172432.2	SNV	LB	1 +	0

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