Related gene-specific medical variations for Gene (Select 9254) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3067891	NM_006030.4(CACNA2D2):c.816C>A (p.Asp272Glu)	CACNA2D2 (D203E +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
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 3023173	NM_006030.4(CACNA2D2):c.2349C>T (p.Tyr783=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3020842	NM_006030.4(CACNA2D2):c.3195G>A (p.Gln1065=)	CYB561D2, LOC127898564 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3014621	NM_006030.4(CACNA2D2):c.2235-20C>T	CYB561D2, CACNA2D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3013802	NM_006030.4(CACNA2D2):c.3003G>A (p.Thr1001=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3009615	NM_006030.4(CACNA2D2):c.3291+20G>A	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2994399	NM_006030.4(CACNA2D2):c.3291+16G>A	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2979401	NM_006030.4(CACNA2D2):c.2144-4C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2974553	NM_006030.4(CACNA2D2):c.3381G>A (p.Leu1127=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2921168	NM_006030.4(CACNA2D2):c.2143+16G>T	CYB561D2, LOC101928965 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GLikely benign
Select item 2915604	NM_006030.4(CACNA2D2):c.2235-18C>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2911792	NM_006030.4(CACNA2D2):c.2234+19G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2908542	NM_006030.4(CACNA2D2):c.3189G>A (p.Leu1063=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2905539	NM_006030.4(CACNA2D2):c.3174C>T (p.Cys1058=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2899323	NM_006030.4(CACNA2D2):c.3003G>C (p.Thr1001=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2898723	NM_006030.4(CACNA2D2):c.2733G>A (p.Val911=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2897648	NM_006030.4(CACNA2D2):c.2589+13G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2895521	NM_006030.4(CACNA2D2):c.2779C>G (p.Arg927Gly)	CACNA2D2, CYB561D2 +2 more (R858G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2894690	NM_006030.4(CACNA2D2):c.2234+19G>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2890150	NM_006030.4(CACNA2D2):c.2863-20C>T	CYB561D2, LOC101928965 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2875359	NM_006030.4(CACNA2D2):c.2144-19C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2873229	NM_006030.4(CACNA2D2):c.2638-13C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2872705	NM_006030.4(CACNA2D2):c.2589+17G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2872398	NM_006030.4(CACNA2D2):c.2496A>G (p.Pro832=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2868942	NM_006030.4(CACNA2D2):c.2916-9G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2860944	NM_006030.4(CACNA2D2):c.2589+17G>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2849340	NM_006030.4(CACNA2D2):c.2666_2669dup (p.Phe891fs)	CACNA2D2, CYB561D2 +2 more (F898fs +3 more)	Duplication (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2838869	NM_006030.4(CACNA2D2):c.2868C>T (p.Thr956=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2835633	NM_006030.4(CACNA2D2):c.2234+9C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2825871	NM_006030.4(CACNA2D2):c.2085C>G (p.Thr695=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2825308	NM_006030.4(CACNA2D2):c.2144-28CACCCC[3]	CACNA2D2, CYB561D2 +2 more	Microsatellite (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2821045	NM_006030.4(CACNA2D2):c.2971+18G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2816330	NM_006030.4(CACNA2D2):c.2696dup (p.His899fs)	CACNA2D2, CYB561D2 +2 more (H906fs +3 more)	Duplication (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2813680	NM_006030.4(CACNA2D2):c.2760C>T (p.Tyr920=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2813027	NM_006030.4(CACNA2D2):c.2990G>T (p.Gly997Val)	CACNA2D2, CYB561D2 +2 more (G1004V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2813025	NM_006030.4(CACNA2D2):c.2991_2994del (p.Ser998fs)	CACNA2D2, CYB561D2 +2 more (S1005fs +3 more)	Deletion (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2801143	NM_006030.4(CACNA2D2):c.2972-7C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2800737	NM_006030.4(CACNA2D2):c.3208+15C>T	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2800507	NM_006030.4(CACNA2D2):c.3204G>A (p.Thr1068=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2772571	NM_006030.4(CACNA2D2):c.3209-20G>A	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2772393	NM_006030.4(CACNA2D2):c.2637+1G>C	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2768490	NM_006030.4(CACNA2D2):c.2590-16A>C	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2765436	NM_006030.4(CACNA2D2):c.3209-13C>T	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2762129	NM_006030.4(CACNA2D2):c.2862+15A>G	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2759842	NM_006030.4(CACNA2D2):c.2590-8C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2759366	NM_006030.4(CACNA2D2):c.2915+13C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2757448	NM_006030.4(CACNA2D2):c.3106del (p.His1036fs)	CACNA2D2, CYB561D2 +1 more (H1036fs +3 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2752199	NM_006030.4(CACNA2D2):c.3247C>T (p.Arg1083Ter)	CACNA2D2, CYB561D2 +1 more (R1016* +4 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2747268	NM_006030.4(CACNA2D2):c.3306C>T (p.Asp1102=)	CYB561D2, LOC127898564 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2745844	NM_006030.4(CACNA2D2):c.3267C>T (p.His1089=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2745453	NM_006030.4(CACNA2D2):c.2637+13T>C	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2741839	NM_006030.4(CACNA2D2):c.3330G>A (p.Pro1110=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2741335	NM_006030.4(CACNA2D2):c.2971+15G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2741148	NM_006030.4(CACNA2D2):c.3210G>T (p.Ser1070=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2732396	NM_006030.4(CACNA2D2):c.2590-20C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2724117	NM_006030.4(CACNA2D2):c.2590-15C>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2705470	NM_006030.4(CACNA2D2):c.3108C>T (p.His1036=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2702105	NM_006030.4(CACNA2D2):c.2637+4T>C	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2700914	NM_006030.4(CACNA2D2):c.3209-12A>T	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2698919	NM_006030.4(CACNA2D2):c.3387C>G (p.Pro1129=)	CYB561D2, LOC127898564 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2688708	NM_006030.4(CACNA2D2):c.751G>A (p.Gly251Ser)	CACNA2D2 (G182S +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2682833	NM_006030.4(CACNA2D2):c.2268C>A (p.Asp756Glu)	CYB561D2, CACNA2D2 +2 more (D687E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653860	NM_006030.4(CACNA2D2):c.2760_2764del (p.Tyr920_Asn922delinsTer)	CACNA2D2, CYB561D2 +2 more	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
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 2600120	NM_006030.4(CACNA2D2):c.3014G>A (p.Ser1005Asn)	CACNA2D2, CYB561D2 +2 more (S1012N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559984	NM_006030.4(CACNA2D2):c.2476G>T (p.Gly826Cys)	CACNA2D2, CYB561D2 +2 more (G757C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439695	NM_006030.4(CACNA2D2):c.1570G>A (p.Val524Met)	CACNA2D2 (V455M +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2439693	NM_006030.4(CACNA2D2):c.1357C>T (p.Pro453Ser)	CACNA2D2 (P384S +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2421741	NM_006030.4(CACNA2D2):c.2780G>A (p.Arg927His)	CACNA2D2, CYB561D2 +2 more (R858H +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2419693	NM_006030.4(CACNA2D2):c.2500+20G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2415539	NM_006030.4(CACNA2D2):c.2709+14AG[2]	CACNA2D2, CYB561D2 +2 more	Microsatellite (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2340066	NM_006030.4(CACNA2D2):c.2941G>A (p.Gly981Ser)	CACNA2D2, CYB561D2 +2 more (G981S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264410	NM_006030.4(CACNA2D2):c.3113A>G (p.Gln1038Arg)	CACNA2D2, CYB561D2 +1 more (Q1039R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235759	NM_006030.4(CACNA2D2):c.3364C>G (p.Leu1122Val)	CACNA2D2, CYB561D2 +1 more (L1123V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235757	NM_006030.4(CACNA2D2):c.2210T>C (p.Val737Ala)	CACNA2D2, CYB561D2 +2 more (V737A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2196735	NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met)	CACNA2D2, CYB561D2 +2 more (I984M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay +2 more	GUncertain significance
Select item 2193694	NM_006030.4(CACNA2D2):c.2268C>T (p.Asp756=)	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2193252	NM_006030.4(CACNA2D2):c.2143+15G>C	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2188431	NM_006030.4(CACNA2D2):c.3098+12G>T	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2180210	NM_006030.4(CACNA2D2):c.2563C>T (p.Arg855Cys)	CACNA2D2, CYB561D2 +2 more (R786C +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2176848	NM_006030.4(CACNA2D2):c.3291+10G>A	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2176019	NM_006030.4(CACNA2D2):c.3099-16dup	CACNA2D2, CYB561D2 +1 more	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2173697	NM_006030.4(CACNA2D2):c.3205C>T (p.His1069Tyr)	CACNA2D2, CYB561D2 +1 more (H1000Y +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2171102	NM_006030.4(CACNA2D2):c.2335A>G (p.Asn779Asp)	CACNA2D2, CYB561D2 +2 more (N710D +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2165671	NM_006030.4(CACNA2D2):c.2637+18C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2155054	NM_006030.4(CACNA2D2):c.2297+16C>G	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2152253	NM_006030.4(CACNA2D2):c.3408C>T (p.Leu1136=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2135643	NM_006030.4(CACNA2D2):c.3402A>G (p.Gln1134=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2133925	NM_006030.4(CACNA2D2):c.3424C>G (p.Arg1142Gly)	CACNA2D2, CYB561D2 +1 more (R1075G +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2122464	NM_006030.4(CACNA2D2):c.2251G>A (p.Val751Met)	CACNA2D2, CYB561D2 +2 more (V758M +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2116155	NM_006030.4(CACNA2D2):c.3208+8_3208+9insA	CACNA2D2, CYB561D2 +1 more	Insertion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2114946	NM_006030.4(CACNA2D2):c.3208+8G>A	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2109586	NM_006030.4(CACNA2D2):c.2401+3G>A	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2106110	NM_006030.4(CACNA2D2):c.2646_2647del (p.Val884fs)	CACNA2D2, CYB561D2 +2 more (V884fs +2 more)	Microsatellite (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2100465	NM_006030.4(CACNA2D2):c.2144-9C>T	CACNA2D2, CYB561D2 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2100095	NM_006030.4(CACNA2D2):c.3111G>C (p.Ala1037=)	CACNA2D2, CYB561D2 +1 more	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2099380	NM_006030.4(CACNA2D2):c.2869G>A (p.Val957Ile)	CACNA2D2, CYB561D2 +2 more (V957I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2096906	NM_006030.4(CACNA2D2):c.2779C>T (p.Arg927Cys)	CACNA2D2, CYB561D2 +2 more (R858C +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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