GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CYP21A2 P30Linsufficiently evaluated pathogenicunknown

(179 web hits)

CYP21A2 H62Linsufficiently evaluated pathogenicunknown

(48 web hits)

CYP21A2 R73Kinsufficiently evaluated noneunknown
CYP21A2 R76Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS18504-1100-36-ASM
CYP21A2 Y102Rinsufficiently evaluated pathogenicunknown
CYP21A2 R103Kinsufficiently evaluated none, f=0.229unknown

(2 web hits)

hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
var-GS06994-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS18956-1100-36-ASM
CYP21A2 I172Ninsufficiently evaluated pathogenicunknown

(256 web hits)

CYP21A2 I173Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
CYP21A2 D184Einsufficiently evaluated not reviewed, f=0.001unknown var-GS18537-1100-36-ASM
CYP21A2 I235Ninsufficiently evaluated pathogenicunknown

(7 web hits)

CYP21A2 V236Einsufficiently evaluated pathogenicunknown

(9 web hits)

CYP21A2 M238Kinsufficiently evaluated pathogenicunknown

(9 web hits)

CYP21A2 S239Tinsufficiently evaluated noneunknown
CYP21A2 S244Yinsufficiently evaluated noneunknown
CYP21A2 S268Tinsufficiently evaluated pathogenicunknown

(8 web hits)

CYP21A2 S269Tinsufficiently evaluated none, f=0.153unknown

(1 web hit)

CYP21A2 S274Yinsufficiently evaluated noneunknown
CYP21A2 V281Linsufficiently evaluated pathogenicunknown

(272 web hits)

CYP21A2 G292Sinsufficiently evaluated pathogenicunknown

(2 web hits)

CYP21A2 V304Minsufficiently evaluated pathogenicunknown

(15 web hits)

CYP21A2 Q318Xinsufficiently evaluated pathogenicunknown

(258 web hits)

CYP21A2 Q319Xpathogenicrecessive

Causes 21-hydroxylase deficiency (congenital adrenal hyperplasia) in a recessive manner, causing sex steroid dysfunction that can alter primary and secondary sexual characteristics. Recorded in ClinVar by OMIM and GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012951/), this variant was first reported by Globerman et al 1988 (PMID: 3267225). Analyzing 200 families, Ezquieta et al 2002 (PMID: 12220458) found this variant had an allele frequency of 8.3% in patients.

CYP21A2 R339Hinsufficiently evaluated pathogenicunknown

(48 web hits)

CYP21A2 R356Winsufficiently evaluated pathogenicunknown

(152 web hits)

CYP21A2 G375Sinsufficiently evaluated pathogenicunknown

(10 web hits)

CYP21A2 E380Dinsufficiently evaluated pathogenicunknown

(19 web hits)

CYP21A2 W406Xinsufficiently evaluated pathogenicunknown
CYP21A2 R408Cinsufficiently evaluated pathogenicunknown

(28 web hits)

CYP21A2 G424Sinsufficiently evaluated pathogenicunknown

(38 web hits)

CYP21A2 R426Hinsufficiently evaluated pathogenicunknown

(27 web hits)

CYP21A2 P453Sinsufficiently evaluated pathogenicunknown

(129 web hits)

CYP21A2 S494Ninsufficiently evaluated not reviewed, f=0.013unknown CGI sample GS00253-DNA_E01_200_37
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS000005532
CGI sample GS01175-DNA_D05 from PGP sample 1205491
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Total results: 32

Gene search

"GENE" or "GENE A123C":

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