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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS6KA3
(R723H)
Single nucleotide variant
(missense variant)
RPS6KA3-related condition
+5 more
GBenign/Likely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RPS6KA3
(E628D)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
+5 more
GBenign/Likely benign
RPS6KA3
(C560R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(E515fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RPS6KA3
(R413G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RPS6KA3
Duplication
(intron variant)
Coffin-Lowry syndrome
+2 more
GConflicting classifications of pathogenicity
RPS6KA3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
RPS6KA3
(V240fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RPS6KA3
(D211G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
RPS6KA3
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
RPS6KA3
Duplication
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RPS6KA3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
RPS6KA3
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 19
+5 more
GBenign/Likely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related condition
+5 more
GBenign/Likely benign
RPS6KA3
(K62fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RPS6KA3
(I38S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign
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