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Mutation Direct

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Gene: KCNJ5 & Disease: HALD3, 242 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8856	KCNJ5	c.1159G>C	p.Gly387Arg (p.G387R)	NM_000890.5 M	SNV	P	4 +	6
91915	KCNJ5	c.451G>A	p.Gly151Arg (p.G151R)	NM_000890.5 M	SNV	P	1 +	6
8856	KCNJ5	c.1159G>C	p.Gly387Arg (p.G387R)	NM_001354169.2	SNV	P	4 +	6
91915	KCNJ5	c.451G>A	p.Gly151Arg (p.G151R)	NM_001354169.2	SNV	P	1 +	6
30125	KCNJ5	c.472A>G	p.Thr158Ala (p.T158A)	NM_000890.5 M	SNV	P	2 +	4
1058806	KCNJ5	c.631C>T	p.Arg211Trp (p.R211W)	NM_000890.5 M	SNV	VUS	3 +	4
30125	KCNJ5	c.472A>G	p.Thr158Ala (p.T158A)	NM_001354169.2	SNV	P	2 +	4
1058806	KCNJ5	c.631C>T	p.Arg211Trp (p.R211W)	NM_001354169.2	SNV	VUS	3 +	4
135679	KCNJ5	c.452G>A	p.Gly151Glu (p.G151E)	NM_000890.5 M	SNV	P	2 +	3
877245	KCNJ5	c.455A>G	p.Tyr152Cys (p.Y152C)	NM_000890.5 M	SNV	VUS	1 +	3
135679	KCNJ5	c.452G>A	p.Gly151Glu (p.G151E)	NM_001354169.2	SNV	P	2 +	3
877245	KCNJ5	c.455A>G	p.Tyr152Cys (p.Y152C)	NM_001354169.2	SNV	VUS	1 +	3
516126	KCNJ5	c.1149C>T	p.Pro383= (p.P383=)	NM_000890.5 M	SNV	LB	3 +	2
1396809	KCNJ5	c.259C>T	p.Arg87Cys (p.R87C)	NM_000890.5 M	SNV	VUS	3 +	2
432222	KCNJ5	c.439G>A	p.Glu147Lys (p.E147K)	NM_000890.5 M	SNV	VUS	3 +	2
1130667	KCNJ5	c.810T>C	p.Leu270= (p.L270=)	NM_000890.5 M	SNV	LB	3 +	2
702681	KCNJ5	c.438C>T	p.Thr146= (p.T146=)	NM_000890.5 M	SNV	LB	3 +	2
1130745	KCNJ5	c.618A>G	p.Ala206= (p.A206=)	NM_000890.5 M	SNV	LB	3 +	2
457007	KCNJ5	c.367G>A	p.Asp123Asn (p.D123N)	NM_000890.5 M	SNV	VUS	3 +	2
1094016	KCNJ5	c.351C>T	p.Asp117= (p.D117=)	NM_000890.5 M	SNV	LB	3 +	2

242 Results, 20 per Page

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