ClinVar for MedGen (Select 1673363) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184414	NM_002184.4(IL6ST):c.2447A>G (p.Lys816Arg)	IL6ST (K484R +6 more)	Single nucleotide variant (missense variant +2 more)	Hyper-IgE recurrent infection syndrome 4, autosomal recessive +1 more	GUncertain significance
Select item 1098855	NM_002184.4(IL6ST):c.442G>C (p.Gly148Arg)	IL6ST (G148R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign
Select item 1030531	NM_002184.4(IL6ST):c.658+6T>G	IL6ST	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 638566	NM_002184.4(IL6ST):c.1493C>T (p.Pro498Leu)	IL6ST (P498L +5 more)	Single nucleotide variant (missense variant +3 more)	Hyper-IgE recurrent infection syndrome 4, autosomal recessive	GPathogenic
Select item 638565	NM_002184.4(IL6ST):c.1210A>T (p.Asn404Tyr)	IL6ST (N404Y +4 more)	Single nucleotide variant (missense variant +2 more)	Hyper-IgE recurrent infection syndrome 4, autosomal recessive	GPathogenic
Select item 636253	NM_002184.4(IL6ST):c.1552+3A>C	IL6ST	Single nucleotide variant (intron variant)	GP130-deficient hyper-IgE syndrome +1 more	GUncertain significance
Select item 636252	NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro)	IL6ST (A517P +5 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GUncertain significance

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