"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920790	NM_001277.3(CHKA):c.688G>A (p.Glu230Lys)	CHKA (E108K +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	GUncertain significance
Select item 2920791	NM_001277.3(CHKA):c.186GCTGCC[3] (p.63LP[3])	CHKA	Microsatellite (inframe_deletion +2 more)	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	GUncertain significance