Gene: CYP21A2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7769409
rs7769409
CYP21A2
T 0.810 CausalMutation CLINVAR Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia. 21134444

2011
dbSNP: rs7769409
rs7769409
CYP21A2
T 0.810 CausalMutation CLINVAR Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency. 10496074

1999
dbSNP: rs7769409
rs7769409
CYP21A2
T 0.810 CausalMutation CLINVAR A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. 24077358

2013
dbSNP: rs7769409
rs7769409
CYP21A2
T 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 23359698

2013
dbSNP: rs7769409
rs7769409
CYP21A2
T 0.810 CausalMutation CLINVAR A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency. 2303461

1990
dbSNP: rs201552310
rs201552310
CYP21A2
A 0.800 CausalMutation CLINVAR

dbSNP: rs7755898
rs7755898
CYP21A2
T 0.740 CausalMutation CLINVAR A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. 23769969

2013
dbSNP: rs7755898
rs7755898
CYP21A2
T 0.740 CausalMutation CLINVAR Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. 14715874

2004
dbSNP: rs7755898
rs7755898
CYP21A2
T 0.740 CausalMutation CLINVAR Nonsense mutation causing steroid 21-hydroxylase deficiency. 3267225

1988
dbSNP: rs7755898
rs7755898
CYP21A2
T 0.740 CausalMutation CLINVAR Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 23359698

2013
dbSNP: rs9378251
rs9378251
CYP21A2
T 0.730 CausalMutation CLINVAR Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. 9215318

1997
dbSNP: rs9378251
rs9378251
CYP21A2
T 0.730 CausalMutation CLINVAR Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1644925

1992
dbSNP: rs9378251
rs9378251
CYP21A2
T 0.730 CausalMutation CLINVAR Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 23359698

2013
dbSNP: rs9378251
rs9378251
CYP21A2
T 0.730 CausalMutation CLINVAR Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation. 23142378

2013
dbSNP: rs9378251
rs9378251
CYP21A2
T 0.730 CausalMutation CLINVAR A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. 2072928

1991
dbSNP: rs9378251
rs9378251
CYP21A2
T 0.730 CausalMutation CLINVAR CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. 16427797

2006
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. 23359706

2013
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein. 14513879

2003
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease. 20661889

2010
dbSNP: rs6471
rs6471
CYP21A2
C 0.720 CausalMutation CLINVAR

dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR A single amino acid substitution (Val281----Leu) present in patients with mild "nonclassical" 21-hydroxylase deficiency resulted in an enzyme with 20-50% of normal activity. 2249999

1990
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia. 21609351

2011
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. 1864962

1991
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 23359698

2013
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 20926536

2011