ClinVar for MedGen (Select 327063) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442131	NM_000418.4(IL4R):c.134A>G (p.Glu45Gly)	IL4R (E30G +1 more)	Single nucleotide variant (missense variant +1 more)	IgE responsiveness, atopic	GUncertain significance
Select item 1478986	NM_181078.3(IL21R):c.995C>T (p.Thr332Met)	IL21R, IL21R-AS1 +1 more (T332M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	IgE responsiveness, atopic +1 more	GUncertain significance
Select item 858671	NM_181078.3(IL21R):c.1550G>A (p.Arg517Gln)	IL21R, IL21R-AS1 +1 more (R517Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	IgE responsiveness, atopic +1 more	GUncertain significance
Select item 827982	NM_000418.4(IL4R):c.1774G>T (p.Val592Leu)	IL4R (V432L +2 more)	Single nucleotide variant (missense variant)	IgE responsiveness, atopic +1 more	GUncertain significance
Select item 654227	NM_181078.3(IL21R):c.605C>T (p.Ala202Val)	IL21R (A202V +1 more)	Single nucleotide variant (missense variant)	IgE responsiveness, atopic +1 more	GUncertain significance
Select item 626118	NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu)	IL4R (S387L +2 more)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection +3 more	GConflicting classifications of pathogenicity
Select item 626116	NM_181078.3(IL21R):c.-17+563G>A	IL21R (R4H)	Single nucleotide variant (missense variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 252799	NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)	IL21R (R297Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 225037	NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)	IL21R, IL21R-AS1 +1 more (G367S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 4270	HAVCR1, 6-AA INS	HAVCR1	Insertion	IgE responsiveness, atopic	GAffects