"PreventionGenetics, part of Exact Sciences"[submitter] AND "IL21R-AS1 - ClinVar - NCBI

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Search results

Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1594634	NM_181078.3(IL21R):c.909G>A (p.Leu303=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	IL21R-related disorder +1 more	GLikely benign
Select item 1497077	NM_181078.3(IL21R):c.942G>A (p.Leu314=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GLikely benign
Select item 2635770	NM_181078.3(IL21R):c.1072T>G (p.Ser358Ala)	IL21R, IL21R-AS1 (S358A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	IL21R-related disorder	GUncertain significance
Select item 3053490	NM_181078.3(IL21R):c.1137G>A (p.Val379=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	IL21R-related disorder	GLikely benign
Select item 1145181	NM_181078.3(IL21R):c.1419C>T (p.Val473=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GLikely benign
Select item 540997	NM_181078.3(IL21R):c.1545C>G (p.Pro515=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	IL21R-related disorder +2 more	GBenign/Likely benign
Select item 792695	NM_181078.3(IL21R):c.1584G>A (p.Pro528=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	IL21R-related disorder +1 more	GBenign/Likely benign