Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. 11793483

2002

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations. 10737985

2000

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. 10502831

1999

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients. 10070627

1999

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency. 9452024

1998

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. 9452065

1998

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females. 9143919

1997

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. 9286441

1997

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia. 9065786

1997

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma. 8956045

1996

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT In addition, we found a G-to-A transition in codon 141 in exon 5 causing substitution of glutamine for arginine (R141Q) in a female obligate heterozygote whose previous three sons succumbed to acute neonatal-onset OTC deficiency. 8830175

1996

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. 8807340

1996

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency. 7474905

1995

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency. 8530002

1995

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern. 8081373

1994

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency. 8081398

1994

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. 8099056

1993

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency. 2347583

1990

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. 2474822

1989

dbSNP: rs68026851
rs68026851
OTC
0.820 GeneticVariation UNIPROT In two unrelated male probands with neonatal onset of severe OTC deficiency, a guanine (G) to adenine (A) mutation on the sense strand (antisense cytosine [C] to thymine [T]) was found, resulting in glutamine for arginine at amino acid 109 of the mature polypeptide. 3170748

1988

dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs72554308
rs72554308
OTC
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs72558454
rs72558454
OTC
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017