U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
AFF3, C2orf15
+373 more
Copy number gain
See cases
GPathogenic
C2orf49, C2orf49-DT
+205 more
Copy number gain
See cases
GPathogenic
C2orf49, C2orf49-DT
+176 more
Copy number gain
See cases
GUncertain significance
ACOXL, BUB1
+241 more
Copy number gain
See cases
GPathogenic
C2orf49, C2orf49-DT
+90 more
Copy number loss
See cases
GLikely pathogenic
C2orf49, C2orf49-DT
+41 more
Copy number gain
See cases
GBenign
CD8B2, ECRG4
+33 more
Copy number gain
See cases
GUncertain significance
UXS1
(R364H +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
UXS1
(K306Q +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
UXS1
(T222R +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
UXS1
(M205V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(L254F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(D136N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(R265H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(E141D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(D64N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(R173W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(L143V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(R28H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(R28C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(N124D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(V129M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(G4D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(E57Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(N51D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(E45K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(R46S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1
(W34C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UXS1, CD8B2
+11 more
Copy number gain
See cases
GUncertain significance
LOC129934515, UXS1
(A12V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129934515, UXS1
(V10L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129934515, UXS1
(R8S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129934515, UXS1
(V2A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
C2orf49, ECRG4
+6 more
Copy number loss
not specified
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
RGPD3, ST6GAL2
+1 more
Copy number gain
not provided
GUncertain significance
ECRG4, UXS1
Copy number gain
not provided
GUncertain significance
C2orf49, ECRG4
+14 more
Copy number loss
not provided
GUncertain significance
ECRG4, RGPD3
+2 more
Copy number gain
not provided
GUncertain significance
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
RGPD3, UXS1
+1 more
Copy number gain
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
UXS1
Copy number loss
See cases
GLikely benign
ACTR1B, ADRA2B
+86 more
Copy number gain
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+88 more
Copy number gain
See cases
GPathogenic
BUB1, PSD4
+53 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination