ClinVar for MedGen (Select 116018) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1247564	NM_181078.3(IL21R):c.-17+400T>C	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 374066	NM_006846.4(SPINK5):c.891C>T (p.Cys297=)	SPINK5	Single nucleotide variant (synonymous variant)	Increased circulating IgE level +4 more	GPathogenic/Likely pathogenic
Select item 372516	NM_006846.4(SPINK5):c.1431-12G>A	SPINK5	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic

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