Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372949028
rs372949028
TANGO2
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs772037717
rs772037717
FBXL4
G 0.700 GeneticVariation CLINVAR A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. 27182039

2016
dbSNP: rs1242465339
rs1242465339
UQCRFS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs139632595
rs139632595
EXOSC9
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555014957
rs1555014957
PC
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567498374
rs1567498374
KARS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568344751
rs1568344751
UQCRFS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1568346416
rs1568346416
UQCRFS1 ; LOC105372352
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569190079
rs1569190079
PDHA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs201439531
rs201439531
CHAT
G 0.700 CausalMutation CLINVAR

dbSNP: rs35135520
rs35135520
TIMM50
A 0.700 CausalMutation CLINVAR

dbSNP: rs752298579
rs752298579
TANGO2
A 0.700 CausalMutation CLINVAR

dbSNP: rs769234940
rs769234940
CHAT
T 0.700 CausalMutation CLINVAR

dbSNP: rs776019250
rs776019250
TIMM50
C 0.700 CausalMutation CLINVAR

dbSNP: rs1157637439
rs1157637439
VARS2
0.010 GeneticVariation BEFREE We report the novel compound heterozygous pathogenic VARS2 mutations c.643 C > T (p. His215Tyr) and c.1354 A > G (p. Met452Val) in a female infant who presented with poor sucking at birth, poor activity, hyporeflexia, hypertonia, persistent pulmonary hypertension of newborn (PPHN), metabolic acidosis, severe lactic acidosis, expansion and hypertrophic cardiomyopathy. 30458719

2018
dbSNP: rs201650281
rs201650281
KARS1
0.010 GeneticVariation BEFREE Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis. 30252186

2018
dbSNP: rs150283105
rs150283105
ACAD9 ; KIAA1257
0.010 GeneticVariation BEFREE We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). 28279569

2017
dbSNP: rs374661051
rs374661051
UQCRC2 ; PDZD9
0.010 GeneticVariation BEFREE The patient has the same mutation (c.547C>T; p.Arg183Trp) as the first case and presented with neonatal lactic acidosis, hypoglycemia and severe episodes of liver failure. 28275242

2017
dbSNP: rs763004980
rs763004980
ACAD9
0.010 GeneticVariation BEFREE We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). 28279569

2017
dbSNP: rs1135402725
rs1135402725
PDHX
0.010 GeneticVariation BEFREE The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). 25087164

2015
dbSNP: rs104894375
rs104894375
SLC25A3
0.010 GeneticVariation BEFREE We identified a homozygous mutation--c.215G-->A (p.Gly72Glu)--in the alternatively spliced exon 3A of this enzyme in two siblings with lactic acidosis, hypertrophic cardiomyopathy, and muscular hypotonia who died within the 1st year of life. 17273968

2007