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
ADA2
(P251L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ADA2
(H114Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Vasculitis due to ADA2 deficiency
+1 more
GUncertain significance
ADA2
(G47V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ADA2
(G47R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+4 more
GPathogenic
Format
Sort by
Choose Destination