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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP21A2, LOC106780800
+1 more
Microsatellite
(inframe_insertion +1 more)
21-HYDROXYLASE POLYMORPHISM
GBenign
LOC106780800, CYP21A2
(P31L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
CYP21A2, LOC106780800
(R103K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
CYP21A2, LOC106780800
(G81fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CYP21A2, LOC106780800
(I173N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP21A2, LOC106780800
(D184E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LOC106780800, CYP21A2
(V238E +5 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
+1 more
(S269T +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
CYP21A2, LOC106780800
(V282L +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Gnot provided
CYP21A2, LOC106780800
(V282L +2 more)
Single nucleotide variant
(missense variant)
CYP21A2-related condition
+4 more
GPathogenic/Likely pathogenic
CYP21A2, LOC106780800
(L173fs +2 more)
Duplication
(frameshift variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
+1 more
GConflicting classifications of pathogenicity
LOC106780800, CYP21A2
+1 more
(Q319* +2 more)
Single nucleotide variant
(nonsense)
CYP21A2-related condition
+3 more
GPathogenic
CYP21A2, LOC106780800
+1 more
(R357W +2 more)
Single nucleotide variant
(missense variant)
CYP21A2-related condition
+2 more
GPathogenic
CYP21A2, LOC106780800
(P454S +2 more)
Single nucleotide variant
(missense variant)
CYP21A2-related condition
+4 more
GPathogenic/Likely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Gnot provided
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