Gene: ASL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940585
rs28940585
ASL
T 0.810 CausalMutation CLINVAR

dbSNP: rs28940287
rs28940287
ASL
T 0.800 CausalMutation CLINVAR Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. 27515243

2017
dbSNP: rs28940286
rs28940286
ASL
T 0.800 CausalMutation CLINVAR Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions. 26745957

2016
dbSNP: rs28940286
rs28940286
ASL
T 0.800 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs28940286
rs28940286
ASL
T 0.800 GeneticVariation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs28940287
rs28940287
ASL
T 0.800 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs28941472
rs28941472
ASL
G 0.800 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs28941473
rs28941473
ASL
A 0.800 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs373697663
rs373697663
ASL
A 0.800 GeneticVariation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs28940286
rs28940286
ASL
T 0.800 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs28940286
rs28940286
ASL
T 0.800 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs28941472
rs28941472
ASL
G 0.800 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs373697663
rs373697663
ASL
A 0.800 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs28940286
rs28940286
ASL
T 0.800 GeneticVariation CLINVAR Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. 21667091

2012
dbSNP: rs28940286
rs28940286
ASL
T 0.800 CausalMutation CLINVAR Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. 21667091

2012
dbSNP: rs28940287
rs28940287
ASL
T 0.800 CausalMutation CLINVAR Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. 21667091

2012
dbSNP: rs28941472
rs28941472
ASL
G 0.800 CausalMutation CLINVAR The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy. 23430928

2012
dbSNP: rs28941472
rs28941472
ASL
G 0.800 CausalMutation CLINVAR Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. 21667091

2012
dbSNP: rs28941473
rs28941473
ASL
A 0.800 CausalMutation CLINVAR Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. 21667091

2012
dbSNP: rs28940287
rs28940287
ASL
T 0.800 CausalMutation CLINVAR Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. 20236848

2010
dbSNP: rs28941473
rs28941473
ASL
A 0.800 CausalMutation CLINVAR Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. 20236848

2010
dbSNP: rs28941472
rs28941472
ASL
G 0.800 CausalMutation CLINVAR Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 19703900

2009
dbSNP: rs28941473
rs28941473
ASL
A 0.800 CausalMutation CLINVAR Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 19703900

2009
dbSNP: rs28940286
rs28940286
ASL
T 0.800 GeneticVariation CLINVAR Hereditary urea cycle diseases in Finland. 18616627

2008
dbSNP: rs28940286
rs28940286
ASL
T 0.800 CausalMutation CLINVAR Hereditary urea cycle diseases in Finland. 18616627

2008