rs769550316
|
|
Tyrosinemia, Type I
|
|
0.710 |
GeneticVariation
|
BEFREE |
Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
|
22884142 |
2012 |
rs1555441595
|
|
Tyrosinemia, Type I
|
|
0.710 |
GeneticVariation
|
BEFREE |
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
|
7550234 |
1995 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
|
24756054 |
2014 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
|
8076937 |
1994 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Two novel mutations involved in hereditary tyrosinemia type I.
|
7757089 |
1995 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
|
8076937 |
1994 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
|
21764616 |
2011 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
|
9633815 |
1998 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
|
15187789 |
2004 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
|
11754109 |
2002 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
|
15187789 |
2004 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
|
21764616 |
2011 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
|
11754109 |
2002 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
|
9633815 |
1998 |
rs80338897
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
|
7942842 |
1994 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
|
23430822 |
2011 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
|
9101289 |
1997 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
|
23193487 |
2012 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
|
22002443 |
2012 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
|
26565546 |
2016 |