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Items: 1 to 100 of 244

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL1F10, IL1RN
+11 more
Deletion
Endometriosis
GUncertain significance
IL1F10, IL1RN
+11 more
Copy number loss
See cases
GUncertain significance
IL1RN
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(genic upstream transcript variant)
Autoinflammatory syndrome
GUncertain significance
IL1RN
Single nucleotide variant
(genic upstream transcript variant)
not specified
+2 more
GBenign
IL1RN
Single nucleotide variant
(genic upstream transcript variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(genic upstream transcript variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign
IL1RN
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
IL1RN
(A2S)
Single nucleotide variant
(missense variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(A2T)
Single nucleotide variant
(missense variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(splice donor variant)
Autoinflammatory syndrome
GLikely pathogenic
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Duplication
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
(L6V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(L6F)
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(Y7H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autoinflammatory syndrome
GUncertain significance
IL1RN
(Y7C)
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(E9*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GPathogenic
IL1RN
(E9V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(G10R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(G15E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autoinflammatory syndrome
+1 more
GUncertain significance
IL1RN
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
(E18*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GPathogenic
IL1RN
(N20H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(5 prime UTR variant +2 more)
Autoinflammatory syndrome
+1 more
GConflicting classifications of pathogenicity
IL1RN
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GBenign
IL1RN
Deletion
not provided
Gnot provided
IL1RN
(R8H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
IL1RN
Single nucleotide variant
(synonymous variant +1 more)
IL1RN-related condition
GLikely benign
IL1RN
(L16fs)
Deletion
(frameshift variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely pathogenic
IL1RN
(F19L)
Single nucleotide variant
(missense variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
(S21*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
IL1RN
Single nucleotide variant
(synonymous variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GConflicting classifications of pathogenicity
IL1RN
(T23M +2 more)
Single nucleotide variant
(missense variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
+2 more
GUncertain significance
IL1RN
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+5 more
GBenign/Likely benign
IL1RN
(I24N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IL1RN
(R29Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+1 more
GUncertain significance
IL1RN
(P30S +2 more)
Single nucleotide variant
(missense variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(S33G +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(S15R +2 more)
Single nucleotide variant
(missense variant +1 more)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(synonymous variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
(A19S +3 more)
Single nucleotide variant
(missense variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(synonymous variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(synonymous variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Autoinflammatory syndrome
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GConflicting classifications of pathogenicity
IL1RN
(Q11* +3 more)
Single nucleotide variant
(nonsense)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GPathogenic
IL1RN
(F14fs +3 more)
Deletion
(frameshift variant)
IL1RN-related condition
GLikely pathogenic
IL1RN
Single nucleotide variant
(synonymous variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
(Y15H +3 more)
Single nucleotide variant
(missense variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(N18fs +3 more)
Deletion
(frameshift variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GPathogenic
IL1RN
Single nucleotide variant
(synonymous variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(synonymous variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
(Q54* +3 more)
Single nucleotide variant
(nonsense)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GPathogenic
IL1RN
(V22I +3 more)
Single nucleotide variant
(missense variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(A60S +3 more)
Single nucleotide variant
(missense variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+3 more
GBenign
IL1RN
(G24V +3 more)
Single nucleotide variant
(missense variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
(G65E +3 more)
Single nucleotide variant
(missense variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(synonymous variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(synonymous variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
+1 more
GConflicting classifications of pathogenicity
IL1RN
(N32S +3 more)
Single nucleotide variant
(missense variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GUncertain significance
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
IL1RN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
IL1RN
Microsatellite
(intron variant)
Gastric cancer susceptibility after h. pylori infection
+1 more
GPathogenic; risk factor
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
IL1RN
Deletion
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GBenign
IL1RN
Single nucleotide variant
(intron variant)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GLikely benign
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