ClinVar for MedGen (Select 1716052) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250425	NM_000565.4(IL6R):c.368G>A (p.Arg123Gln)	IL6R (R123Q)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 5, autosomal recessive	GUncertain significance
Select item 3242202	NM_000565.4(IL6R):c.284C>G (p.Ser95Ter)	IL6R (S95*)	Single nucleotide variant (nonsense +1 more)	Hyper-IgE recurrent infection syndrome 5, autosomal recessive	GUncertain significance
Select item 2167190	NM_000565.4(IL6R):c.992T>C (p.Met331Thr)	IL6R (M211T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356226	NM_000565.4(IL6R):c.127G>A (p.Val43Met)	IL6R (V43M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1036785	NM_000565.4(IL6R):c.923C>T (p.Pro308Leu)	IL6R (P306L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 973503	NM_000565.4(IL6R):c.836T>A (p.Ile279Asn)	IL6R (I279N +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 5, autosomal recessive	GPathogenic
Select item 973502	NM_000565.4(IL6R):c.548del (p.Gly183fs)	IL6R (G183fs +1 more)	Deletion (frameshift variant)	Hyper-IgE recurrent infection syndrome 5, autosomal recessive	GPathogenic

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