U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106780800, CYP21A2
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital adrenal hyperplasia
+5 more
GPathogenic/Likely pathogenic
CYP21A2, LOC106780800
(V282L +2 more)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia
+4 more
GPathogenic/Likely pathogenic
LOC106780800, CYP21A2
(P454S +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
LOC106780800, CYP21A2
(P483S +2 more)
Single nucleotide variant
(missense variant)
CYP21A2-related disorder
+2 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination