Related gene-specific medical variations for Gene (Select 3766) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064453	NM_002241.5(KCNJ10):c.690G>A (p.Arg230=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 3061960	NM_002241.5(KCNJ10):c.170C>T (p.Thr57Ile)	KCNJ10 (T57I)	Single nucleotide variant (missense variant)	EAST syndrome	GLikely pathogenic
Select item 1098613	NM_002241.5(KCNJ10):c.536T>A (p.Ile179Asn)	KCNJ10 (I179N)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance

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