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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL1B
(N223S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL1B
(V188M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
(E141D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
(L122V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
Single nucleotide variant
(synonymous variant)
Antisynthetase syndrome
+3 more
GBenign; Affects; association; other
IL1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL1B
(E101D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
(P80S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
IL1B
(D54N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
(Q49K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IL1B
(D38E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
Single nucleotide variant
(intron variant)
IL1B-related disorder
GLikely benign
IL1B
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1B
Single nucleotide variant
(intron variant)
Coronary heart disease, susceptibility to, 2
Gnot provided
IL1B
(Q31R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL1B
(E10K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL1B
Single nucleotide variant
Gastric cancer susceptibility after h. pylori infection
Grisk factor
IL1B
Single nucleotide variant
Antisynthetase syndrome
Gassociation
IL1B
Single nucleotide variant
Antisynthetase syndrome
Gassociation
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
ACTR3, BIN1
+51 more
Copy number loss
not specified
GPathogenic
CHCHD5, CKAP2L
+14 more
Copy number gain
not provided
GUncertain significance
GPR39, IL1F10
+122 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
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
BUB1, PSD4
+53 more
Copy number loss
See cases
GPathogenic
TMEM87B, IL37
+40 more
Copy number loss
See cases
GPathogenic
RGPD8, ACTR3
+63 more
Copy number loss
See cases
GPathogenic
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