Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: GJC2 & Disease: Hereditary Lymphedema Ic, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
445910	GJC2	c.1234C>T	p.His412Tyr (p.H412Y)	NM_020435.4 M	SNV	LB	5 +	4
2079	GJC2	c.143C>T	p.Ser48Leu (p.S48L)	NM_020435.4 M	SNV	P	2 +	2
2080	GJC2	c.778C>T	p.Arg260Cys (p.R260C)	NM_020435.4 M	SNV	P	2 +	1
872626	GJC2	c.1199C>A	p.Ala400Glu (p.A400E)	NM_020435.4 M	SNV	P	2 +	0
235758	GJC2	c.108C>T	p.Ile36= (p.I36=)	NM_020435.4 M	SNV	LB	5 +	0
1697235	GJC2	c.148G>A	p.Glu50Lys (p.E50K)	NM_020435.4 M	SNV	VUS	2 +	0
943603	GJC2	c.436_462del	p.Pro146_Glu154del	NM_020435.4 M	Del	VUS	4 +	0

7 Results, 20 per Page

1

Comparison

Back to top