Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553262429
rs1553262429
GJC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. 24374284

2014
dbSNP: rs1553262429
rs1553262429
GJC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. 23621851

2013
dbSNP: rs1553262429
rs1553262429
GJC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity? 22610664

2012
dbSNP: rs1553262429
rs1553262429
GJC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. 21266381

2011
dbSNP: rs1553262429
rs1553262429
GJC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR GJC2 missense mutations cause human lymphedema. 20537300

2010
dbSNP: rs1553262429
rs1553262429
GJC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. 19056803

2009
dbSNP: rs1553262429
rs1553262429
GJC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. 15192806

2004