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Items: 78

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
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
IL1RL1
Single nucleotide variant
(intron variant)
Ascending aortic dissection
Gassociation
IL1RL1
(A7S)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
IL1RL1
(A18G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IL1RL1
(T45N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IL1RL1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
IL1RL1
(R64C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IL1RL1
(S82C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
IL1RL1
(A100T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
IL1RL1
(S6T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL1RL1
(T135A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(A153V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IL1RL1
(H162Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(A176T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IL1RL1
(G60S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(G189V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(T78M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(T201A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL1RL1
(K203R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(F208L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(A216T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
IL1RL1
(A114T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IL1RL1
(Q135L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(Q157R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(A281D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL1RL1
(V292M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(L180F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(Y184S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(D185N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
(H192R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL1RL1
Single nucleotide variant
(non-coding transcript variant +2 more)
Ascending aortic dissection
Gassociation
IL1RL1
(D325E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(I329V)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
IL1RL1
(M352T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IL1RL1
(Y377C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(N386K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(R396C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(R396H)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL1RL1
(I419V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
Single nucleotide variant
(intron variant)
Ascending aortic dissection
Gassociation
IL1RL1
Single nucleotide variant
(intron variant)
Ascending aortic dissection
Gassociation
IL1RL1
(E435K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(R443Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IL1RL1
(V464A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(Q472K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(E483D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IL1RL1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
IL1RL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL1RL1
Single nucleotide variant
(synonymous variant)
Ascending aortic dissection
Gassociation
IL1RL1
(V531L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(P542L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1RL1
(S547T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
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