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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP21A2, LOC106780800
+1 more
(Q319* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
CYP21A2, LOC106780800
+1 more
(R357W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
CYP21A2, LOC106780800
+1 more
(R480L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AGER, AGPAT1
+19 more
Copy number gain
not provided
GUncertain significance
ABHD16A, AGER
+117 more
Copy number gain
not provided
GLikely pathogenic
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