Related gene-specific medical variations for Gene (Select 3557) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247349	NC_000002.11:g.(?_113875596)_(113875625_?)del	IL1RN	Deletion	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 444516	NM_173842.3(IL1RN):c.62C>G (p.Ser21Ter)	IL1RN (S21*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 183260	NM_173842.1(IL1RN):c.-64_1696del	IL1RN	Deletion	not provided	Gnot provided
Select item 14678	NC_000002.12:g.112960554_113135775del	IL1RN	Deletion	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic

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