U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
LOC129934355, LOC129934356
+348 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
C2orf49, C2orf49-DT
+111 more
Copy number loss
See cases
GPathogenic
ACOXL, BUB1
+241 more
Copy number gain
See cases
GPathogenic
TMEM182, C2orf49
+113 more
Copy number loss
See cases
GLikely pathogenic
IL18RAP
(A13S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IL18RAP
(K28E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IL18RAP
(T33A)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
IL18RAP
(L48F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IL18RAP
(F56L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IL18RAP
(G122R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IL18RAP
(I2T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(E146A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(D164Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL18RAP
Single nucleotide variant
(intron variant)
Ascending aortic dissection
Gassociation
IL18RAP
(R205Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL18RAP
(V207I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(V211I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL18RAP
(S226L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(T100A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(D113V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(E258G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(G136S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(Y148H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(V160L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
Single nucleotide variant
(intron variant)
Ascending aortic dissection
Gassociation
IL18RAP
(E176G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(I179N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(V336I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL18RAP
(V350I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL18RAP
(R251W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(V270I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL18RAP
(I467V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(A354G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(F372Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(N406D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(R408K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(G424E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL18RAP
(T433I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL18RAP
(I578F +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
C2orf49, CREG2
+18 more
Copy number loss
not provided
GUncertain significance
IL18R1, IL18RAP
+9 more
Copy number loss
not provided
GUncertain significance
IL18R1, IL18RAP
+5 more
Copy number loss
not provided
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
C2orf49, CNOT11
+21 more
Copy number loss
not provided
GUncertain significance
C2orf49, ECRG4
+14 more
Copy number loss
not provided
GUncertain significance
IL18R1, IL18RAP
+8 more
Copy number gain
not provided
GUncertain significance
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
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
Format
Items per page
Sort by
Choose Destination