Gene: CYP21A2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene. 25041270

2015
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. 24953648

2015
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency. 26184415

2015
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Genetic defects of the CYP21A2 gene in girls with premature adrenarche. 25481255

2015
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations. 25538881

2014
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone. 22313422

2012
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants. 22262854

2012
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 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: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 20926536

2011
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia. 20838032

2011
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 19263525

2009
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P). 16483186

2005
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. 15126570

2004
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
T 0.820 CausalMutation CLINVAR CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region. 10931088

2000
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 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 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 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 23359698

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: 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