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Gene: KCNH5 & Disease: Developmental and Epileptic Encephalopathy, 1006 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
100784	KCNH5	c.980G>A	p.Arg327His (p.R327H)	NM_139318.5 M	SNV	P	3 +	6
100784	KCNH5	c.980G>A	p.Arg327His (p.R327H)	NM_172375.3	SNV	P	3 +	6
2130899	KCNH5	c.304+3A>G	--	NM_139318.5 M	SNV	VUS	2 +	2
1480031	KCNH5	c.304+4G>A	--	NM_139318.5 M	SNV	VUS	2 +	2
956491	KCNH5	c.305-3C>T	--	NM_139318.5 M	SNV	VUS	2 +	2
435549	KCNH5	c.351A>G	p.Glu117= (p.E117=)	NM_139318.5 M	SNV	LB	2 +	2
2417635	KCNH5	c.433+5T>C	--	NM_139318.5 M	SNV	VUS	2 +	2
211217	KCNH5	c.550-9C>G	--	NM_139318.5 M	SNV	LB	2 +	2
1496702	KCNH5	c.942+5G>A	--	NM_139318.5 M	SNV	VUS	2 +	2
1488521	KCNH5	c.979C>T	p.Arg327Cys (p.R327C)	NM_139318.5 M	SNV	LP	2 +	2
416118	KCNH5	c.1369+7A>G	--	NM_139318.5 M	SNV	B	2 +	2
1413725	KCNH5	c.1822+3A>G	--	NM_139318.5 M	SNV	VUS	2 +	2
1163361	KCNH5	c.2069T>G	p.Leu690Arg (p.L690R)	NM_139318.5 M	SNV	VUS	2 +	2
530414	KCNH5	c.2828C>T	p.Ser943Leu (p.S943L)	NM_139318.5 M	SNV	LB	2 +	2
2130899	KCNH5	c.304+3A>G	--	NM_172375.3	SNV	VUS	2 +	2
1480031	KCNH5	c.304+4G>A	--	NM_172375.3	SNV	VUS	2 +	2
956491	KCNH5	c.305-3C>T	--	NM_172375.3	SNV	VUS	2 +	2
435549	KCNH5	c.351A>G	p.Glu117= (p.E117=)	NM_172375.3	SNV	LB	2 +	2
2417635	KCNH5	c.433+5T>C	--	NM_172375.3	SNV	VUS	2 +	2
211217	KCNH5	c.550-9C>G	--	NM_172375.3	SNV	LB	2 +	2

1006 Results, 20 per Page

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