"GeneDx"[submitter] AND "IL1RN"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59937	GRCh38/hg38 2q14.1(chr2:112924872-113105404)x1	IL1F10, IL1RN +11 more	Copy number loss	See cases	GUncertain significance
Select item 1249883	NC_000002.12:g.113117640A>C	IL1RN	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1294755	NC_000002.12:g.113117851G>A	IL1RN	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 330817	NM_173841.2(IL1RN):c.-87G>A	IL1RN	Single nucleotide variant (genic upstream transcript variant)	not specified +2 more	GBenign
Select item 330820	NM_173841.3(IL1RN):c.-31A>G	IL1RN	Single nucleotide variant (5 prime UTR variant)	not specified +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 1258566	NM_173841.3(IL1RN):c.10+148C>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233998	NM_173841.3(IL1RN):c.10+168A>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232909	NM_173841.3(IL1RN):c.11-230G>T	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266807	NM_173841.3(IL1RN):c.11-148G>T	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241633	NM_173841.3(IL1RN):c.11-105G>C	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 330822	NM_173841.3(IL1RN):c.73+8A>C	IL1RN	Single nucleotide variant (intron variant)	not specified +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 specified +1 more	GBenign
Select item 1294769	NM_173842.3(IL1RN):c.205+97A>C	IL1RN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1277077	NM_173842.3(IL1RN):c.205+135G>A	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268767	NM_173842.3(IL1RN):c.205+158G>A	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259882	NM_173842.3(IL1RN):c.205+217G>T	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 537717	NM_173842.3(IL1RN):c.205+242C>T	IL1RN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1294768	NM_173842.3(IL1RN):c.206-157A>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294763	NM_173842.3(IL1RN):c.206-152C>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178461	NM_173842.3(IL1RN):c.206-65G>A	IL1RN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1294753	NM_173842.3(IL1RN):c.206-43T>C	IL1RN	Single nucleotide variant (intron variant)	not provided +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 1251642	NM_173842.3(IL1RN):c.318+166T>A	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264174	NM_173842.3(IL1RN):c.318+272T>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232394	NM_173842.3(IL1RN):c.318+327G>A	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286038	NM_173842.3(IL1RN):c.319-230C>T	IL1RN	Single nucleotide variant (intron variant)	not provided	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
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Items: 37