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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+331 more
Copy number gain
See cases
GPathogenic
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
LINC01935, LINC02946
+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
LOC129934515, LOC129934516
+241 more
Copy number gain
See cases
GPathogenic
C2orf49, C2orf49-DT
+113 more
Copy number loss
See cases
GLikely pathogenic
IL1R1
(A20T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IL1R1
Single nucleotide variant
(intron variant)
Ascending aortic dissection
Gassociation
IL1R1
Single nucleotide variant
(intron variant)
Ascending aortic dissection
Gassociation
IL1R1
(E27D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IL1R1
(G53D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IL1R1
(S62G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IL1R1
Single nucleotide variant
(missense variant +2 more)
Chronic multifocal osteomyelitis
GPathogenic
IL1R1
(P208L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IL1R1
Single nucleotide variant
(intron variant)
Ascending aortic dissection
Gassociation
IL1R1
(N77S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IL1R1
(R225K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IL1R1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL1R1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IL1R1-AS1, IL1R1
(I320V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL1R1, IL1R1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
IL1R1, IL1R1-AS1
(C259S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
IL1R1, IL1R1-AS1
(D246A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL1R1, IL1R1-AS1
(R331C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL1R1, IL1R1-AS1
(R398Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL1R1, IL1R1-AS1
(R308Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
IL1R1, IL1R1-AS1
(K528fs +4 more)
Deletion
(frameshift variant)
not provided
GBenign
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
IL18R1, IL18RAP
+8 more
Copy number gain
not provided
GUncertain significance
ZEB2, ZFAND2B
+1216 more
Copy number gain
not provided
GPathogenic
AAK1, AAMP
+1216 more
Copy number gain
not provided
GPathogenic
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
DCAF17, DCDC2C
+1214 more
Copy number gain
See cases
GPathogenic
AAK1, AAMP
+1214 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+88 more
Copy number gain
See cases
GPathogenic
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