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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP21A2, LOC106780800
(R17L)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
LOC106780800, CYP21A2
(P46R)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(A90S)
Single nucleotide variant
(missense variant +2 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Insertion
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Duplication
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Insertion
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
LOC106780800, CYP21A2
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(E132G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(L137V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(L137R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(C140Y +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(Y145* +2 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(D150E +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(L157V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
LOC106780800, CYP21A2
(L107V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(G117S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(M126T +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(M126R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(A151S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(R235P +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(D243Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP21A2, LOC106780800
(Q255H +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(R266G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(C289* +2 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(G296S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(P298R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(D322E +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(S334G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(R349fs +2 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
CYP21A2, LOC106780800
(P348T +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(3 prime UTR variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
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