Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553275644
rs1553275644
RAB3GAP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476

2014
dbSNP: rs1553275644
rs1553275644
RAB3GAP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520

2013
dbSNP: rs1553275644
rs1553275644
RAB3GAP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381

2013
dbSNP: rs1553275644
rs1553275644
RAB3GAP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. 23176487

2012
dbSNP: rs1553275644
rs1553275644
RAB3GAP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 20967465

2011
dbSNP: rs1553275644
rs1553275644
RAB3GAP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. 16532399

2006