"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CACNA2D2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 411013	NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His)	CACNA2D2, CYB561D2 +1 more (Q1134H +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 411008	NM_006030.4(CACNA2D2):c.3267C>A (p.His1089Gln)	CACNA2D2, CYB561D2 +1 more (H1089Q +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 461319	NM_006030.4(CACNA2D2):c.3116G>A (p.Arg1039Lys)	CACNA2D2, CYB561D2 +1 more (R1046K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1479293	NM_006030.4(CACNA2D2):c.3052G>T (p.Val1018Leu)	CACNA2D2, CYB561D2 +2 more (V1025L +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay +1 more	GUncertain significance
Select item 411005	NM_006030.4(CACNA2D2):c.2995C>T (p.Pro999Ser)	CACNA2D2, CYB561D2 +2 more (P1006S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 240276	NM_006030.4(CACNA2D2):c.2801A>G (p.Gln934Arg)	CACNA2D2, CYB561D2 +2 more (Q934R +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1419472	NM_006030.4(CACNA2D2):c.727C>T (p.Pro243Ser)	CACNA2D2 (P174S +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay +1 more	GUncertain significance
Select item 411012	NM_006030.4(CACNA2D2):c.553A>G (p.Ser185Gly)	CACNA2D2 (S185G +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 411004	NM_006030.4(CACNA2D2):c.364G>T (p.Asp122Tyr)	CACNA2D2 (D122Y +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance