"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065829	NM_006030.4(CACNA2D2):c.2626G>T (p.Val876Phe)	CACNA2D2, CYB561D2 +2 more (V807F +3 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 3068035	NM_006030.4(CACNA2D2):c.2336A>C (p.Asn779Thr)	CACNA2D2, CYB561D2 +2 more (N710T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance

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