U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS6KA3
(R305*)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked 19
+1 more
GPathogenic
RPS6KA3
(E217K)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 19
+1 more
GLikely pathogenic