U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 631

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS6KA3
(P342L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(F68Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(S724P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(G614R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(R383Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(G642A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(G642V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(G213C)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
GLikely pathogenic
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
(G152E)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
(V680I)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(5 prime UTR variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(5 prime UTR variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
(S641N)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Single nucleotide variant
(intron variant)
RPS6KA3-related disorder
GLikely benign
LOC130068032, RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Deletion
(intron variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
LOC130068032, RPS6KA3
(K12R)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Deletion
(intron variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
(K504E)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Deletion
(intron variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
(N126H)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Single nucleotide variant
(intron variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(intron variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
(I557T)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
(R305Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RPS6KA3
Microsatellite
(splice donor variant)
not provided
GPathogenic
RPS6KA3
(G213S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RPS6KA3
(G244fs)
Indel
(frameshift variant)
Inborn genetic diseases
GPathogenic
RPS6KA3
(L200F)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 19
GUncertain significance
RPS6KA3
(L201P)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
GPathogenic
RPS6KA3
(G563fs)
Duplication
(frameshift variant)
Coffin-Lowry syndrome
GPathogenic
RPS6KA3
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
BCLAF3, EIF1AX
+3 more
Duplication
not provided
GUncertain significance
RPS6KA3
Duplication
Coffin-Lowry syndrome
+1 more
GUncertain significance
ADGRG2, BCLAF3
+15 more
Deletion
Coffin-Lowry syndrome
+5 more
GPathogenic
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
RPS6KA3
(E233*)
Single nucleotide variant
(nonsense)
Coffin-Lowry syndrome
GPathogenic
RPS6KA3
(K171R)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
GUncertain significance
RPS6KA3
(A389D)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
GUncertain significance
RPS6KA3
(R723C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
RPS6KA3
(Q693fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic
RPS6KA3
Single nucleotide variant
(splice acceptor variant)
Coffin-Lowry syndrome
GPathogenic
RPS6KA3
Duplication
not specified
GUncertain significance
BCLAF3, EIF1AX
+2 more
Copy number gain
not specified
GLikely pathogenic
BCLAF3, EIF1AX
+3 more
Copy number gain
not specified
GLikely pathogenic
ACE2, ACOT9
+314 more
Copy number loss
not specified
GPathogenic
ACE2, ACOT9
+305 more
Copy number loss
not specified
GPathogenic
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
LOC130068032, RPS6KA3
(S17N)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Single nucleotide variant
(synonymous variant)
RPS6KA3-related disorder
GLikely benign
RPS6KA3
(I219V)
Single nucleotide variant
(missense variant)
RPS6KA3-related disorder
GUncertain significance
RPS6KA3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RPS6KA3
(A51T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS6KA3
(R383P)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 19
+1 more
GUncertain significance
RPS6KA3
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 19
+1 more
GLikely benign
RPS6KA3
Deletion
(intron variant)
Intellectual disability, X-linked 19
+1 more
GLikely benign
RPS6KA3
Deletion
(splice donor variant)
Intellectual disability, X-linked 19
+1 more
GLikely pathogenic
RPS6KA3
(V699fs)
Duplication
(frameshift variant)
Coffin-Lowry syndrome
+1 more
GPathogenic
RPS6KA3
(R667K)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
+1 more
GUncertain significance
RPS6KA3
Single nucleotide variant
(synonymous variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
(E319*)
Single nucleotide variant
(nonsense)
Coffin-Lowry syndrome
+1 more
GPathogenic
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
(V699I)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
+1 more
GUncertain significance
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
(I523*)
Insertion
(nonsense)
Coffin-Lowry syndrome
+1 more
GPathogenic
RPS6KA3
(P293A)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
(K100N)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
+1 more
GUncertain significance
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GBenign
RPS6KA3
Single nucleotide variant
(synonymous variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
(M446V)
Single nucleotide variant
(missense variant)
Coffin-Lowry syndrome
+1 more
GUncertain significance
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GUncertain significance
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(synonymous variant)
Coffin-Lowry syndrome
+1 more
GBenign
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GBenign
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GLikely benign
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
+1 more
GBenign
RPS6KA3
Single nucleotide variant
(synonymous variant)
Coffin-Lowry syndrome
+1 more
GBenign
Format
Items per page
Sort by
Choose Destination