"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330817	NM_173841.2(IL1RN):c.-87G>A	IL1RN	Single nucleotide variant (genic upstream transcript variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +2 more	GBenign
Select item 330820	NM_173841.3(IL1RN):c.-31A>G	IL1RN	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 330821	NM_173841.3(IL1RN):c.-12G>C	IL1RN	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1244315	NM_173841.3(IL1RN):c.10+26T>C	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1241633	NM_173841.3(IL1RN):c.11-105G>C	IL1RN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 330822	NM_173841.3(IL1RN):c.73+8A>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +2 more	GBenign
Select item 330825	NM_173842.3(IL1RN):c.171T>C (p.Ala57=)	IL1RN	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign
Select item 1294767	NM_173842.3(IL1RN):c.205+21C>T	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1225921	NM_173842.3(IL1RN):c.205+32G>A	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294761	NM_173842.3(IL1RN):c.205+53G>C	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1248659	NM_173842.3(IL1RN):c.205+94T>G	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294769	NM_173842.3(IL1RN):c.205+97A>C	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178461	NM_173842.3(IL1RN):c.206-65G>A	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294753	NM_173842.3(IL1RN):c.206-43T>C	IL1RN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1260921	NM_173842.3(IL1RN):c.318+59A>T	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 330827	NM_173842.3(IL1RN):c.390T>C (p.Ser130=)	IL1RN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 330832	NM_173842.3(IL1RN):c.*138C>G	IL1RN	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign