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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL1RN
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
IL1RN
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
IL1RN
(E77* +3 more)
Single nucleotide variant
(nonsense)
Sterile multifocal osteomyelitis with periostitis and pustulosis
GPathogenic
IL1RN
(E180K +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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