"CACNA2D2-related condition"[Disease/phenotype] AND "PreventionGenetic - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 240279	NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu)	CACNA2D2, CYB561D2 +1 more (P1133L +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 416545	NM_006030.4(CACNA2D2):c.3333G>A (p.Pro1111=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	CACNA2D2-related condition +1 more	GLikely benign
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 1589990	NM_006030.4(CACNA2D2):c.2841T>C (p.Ala947=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (synonymous variant)	CACNA2D2-related condition +1 more	GLikely benign
Select item 2633220	NM_006030.4(CACNA2D2):c.2402-6C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	CACNA2D2-related condition	GUncertain significance
Select item 1108508	NM_006030.4(CACNA2D2):c.1774-7C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 696863	NM_006030.4(CACNA2D2):c.1390-9C>A	CACNA2D2	Single nucleotide variant (intron variant)	CACNA2D2-related condition +1 more	GLikely benign
Select item 626071	NM_006030.4(CACNA2D2):c.861G>C (p.Ser287=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Cerebellar atrophy with seizures and variable developmental delay +2 more	GConflicting classifications of pathogenicity
Select item 3046865	NM_006030.4(CACNA2D2):c.666C>T (p.Leu222=)	CACNA2D2	Single nucleotide variant (synonymous variant)	CACNA2D2-related condition	GLikely benign
Select item 3042899	NM_006030.4(CACNA2D2):c.321A>G (p.Val107=)	CACNA2D2	Single nucleotide variant (synonymous variant)	CACNA2D2-related condition	GLikely benign
Select item 416536	NM_006030.4(CACNA2D2):c.284G>A (p.Arg95His)	CACNA2D2 (R95H +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 252556	NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe)	CACNA2D2 (L54F)	Single nucleotide variant (missense variant +1 more)	CACNA2D2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 530582	NM_006030.4(CACNA2D2):c.120C>T (p.Pro40=)	CACNA2D2	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign