Related gene-specific medical variations for Gene (Select 22936) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2536623	NM_012081.6(ELL2):c.98A>G (p.Lys33Arg)	CAST, ELL2 +1 more (K33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527180	GRCh37/hg19 5q15(chr5:95240864-95630972)	ELL2	Copy number loss	not specified	GUncertain significance
Select item 1277603	NM_012081.6(ELL2):c.196-4613G>A	ELL2, LOC129994245	Single nucleotide variant (intron variant)	not provided	GBenign

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