Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603

2012
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988

2010
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. 19384974

2009
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR The unique neuroradiology of complex I deficiency due to NDUFA12L defect. 18180188

2008
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Bovine complex I is a complex of 45 different subunits. 16950771

2006
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211

2005
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. 10649489

2000