"GeneDx"[submitter] AND "IL21R"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 1247564	NM_181078.3(IL21R):c.-17+400T>C	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233904	NM_181078.3(IL21R):c.-17+439T>G	IL21R	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1241251	NM_181078.3(IL21R):c.-16-94A>G	IL21R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1242635	NM_181078.3(IL21R):c.50-308G>C	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316094	NM_181078.3(IL21R):c.107T>A (p.Ile36Asn)	IL21R (I36N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223406	NM_181078.3(IL21R):c.152+284C>T	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260018	NM_181078.3(IL21R):c.352+51C>T	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264486	NM_181078.3(IL21R):c.353-192T>C	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271815	NM_181078.3(IL21R):c.507+125A>G	IL21R	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1236137	NM_181078.3(IL21R):c.507+246T>C	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709593	NM_181078.3(IL21R):c.571C>T (p.Arg191Cys)	IL21R (R191C +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 857678	NM_181078.3(IL21R):c.572G>A (p.Arg191His)	IL21R (R191H +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GUncertain significance
Select item 1170239	NM_181078.3(IL21R):c.785+16G>C	IL21R	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1251522	NM_181078.3(IL21R):c.786-170T>G	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252755	NM_181078.3(IL21R):c.867+109C>G	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288842	NM_181078.3(IL21R):c.868-222G>A	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 450009	NM_181078.3(IL21R):c.1048A>G (p.Ser350Gly)	IL21R, IL21R-AS1 (S350G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1278126	NM_181078.3(IL21R):c.*293G>A	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 22