9254[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1160066	NM_006030.4(CACNA2D2):c.3431G>A (p.Ter1144=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1059235	NM_006030.4(CACNA2D2):c.3421_3430del (p.Arg1141fs)	CACNA2D2, LOC127898564 (R1074fs +3 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 858251	NM_006030.4(CACNA2D2):c.3409_3425del (p.Val1137fs)	CACNA2D2, LOC127898564 (V1144fs +3 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2133925	NM_006030.4(CACNA2D2):c.3424C>G (p.Arg1142Gly)	CACNA2D2, LOC127898564 (R1075G +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1060169	NM_006030.4(CACNA2D2):c.3424C>T (p.Arg1142Cys)	CACNA2D2, LOC127898564 (R1075C +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 702140	NM_006030.4(CACNA2D2):c.3423C>A (p.Arg1141=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1085763	NM_006030.4(CACNA2D2):c.3417C>T (p.Ala1139=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1966794	NM_006030.4(CACNA2D2):c.3414C>T (p.His1138=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2152253	NM_006030.4(CACNA2D2):c.3408C>T (p.Leu1136=)	LOC127898564, CACNA2D2	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, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 411013	NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His)	CACNA2D2, LOC127898564 (Q1134H +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 240279	NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu)	CACNA2D2, LOC127898564 (P1133L +3 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay +3 more	GBenign/Likely benign
Select item 1945979	NM_006030.4(CACNA2D2):c.3397C>T (p.Pro1133Ser)	CACNA2D2, LOC127898564 (P1133S +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 240278	NM_006030.4(CACNA2D2):c.3393G>A (p.Pro1131=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1415591	NM_006030.4(CACNA2D2):c.3392C>T (p.Pro1131Leu)	CACNA2D2, LOC127898564 (P1131L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1462131	NM_006030.4(CACNA2D2):c.3385_3389dup (p.Gln1132fs)	CACNA2D2, LOC127898564 (Q1134fs +3 more)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 577657	NM_006030.4(CACNA2D2):c.3388C>A (p.Arg1130=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2698919	NM_006030.4(CACNA2D2):c.3387C>G (p.Pro1129=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 642186	NM_006030.4(CACNA2D2):c.3386C>T (p.Pro1129Leu)	LOC127898564, CACNA2D2 (P1062L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 702362	NM_006030.4(CACNA2D2):c.3384G>A (p.Pro1128=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2974553	NM_006030.4(CACNA2D2):c.3381G>A (p.Leu1127=)	LOC127898564, CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1133879	NM_006030.4(CACNA2D2):c.3378C>T (p.Gly1126=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1480173	NM_006030.4(CACNA2D2):c.3373C>T (p.Leu1125=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1576890	NM_006030.4(CACNA2D2):c.3372C>T (p.Leu1124=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 461320	NM_006030.4(CACNA2D2):c.3370C>T (p.Leu1124Phe)	CACNA2D2, LOC127898564 (L1124F +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1583047	NM_006030.4(CACNA2D2):c.3369C>G (p.Leu1123=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 416544	NM_006030.4(CACNA2D2):c.3369C>T (p.Leu1123=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1706533	NM_006030.4(CACNA2D2):c.3362T>G (p.Leu1121Arg)	CACNA2D2, CYB561D2 +1 more (L1054R +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GLikely pathogenic
Select item 2040023	NM_006030.4(CACNA2D2):c.3354C>T (p.Ser1118=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 416537	NM_006030.4(CACNA2D2):c.3349G>A (p.Val1117Ile)	CACNA2D2, LOC127898564 (V1124I +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1083019	NM_006030.4(CACNA2D2):c.3345C>A (p.Val1115=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2664675	NM_006030.4(CACNA2D2):c.3344del (p.Val1115fs)	CACNA2D2, CYB561D2 +1 more (V1048fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1574700	NM_006030.4(CACNA2D2):c.3336G>C (p.Ser1112=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 416545	NM_006030.4(CACNA2D2):c.3333G>A (p.Pro1111=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 970220	NM_006030.4(CACNA2D2):c.3332C>T (p.Pro1111Leu)	CACNA2D2, LOC127898564 (P1118L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2741839	NM_006030.4(CACNA2D2):c.3330G>A (p.Pro1110=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1040434	NM_006030.4(CACNA2D2):c.3326T>G (p.Phe1109Cys)	CACNA2D2, LOC127898564 (F1109C +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 698425	NM_006030.4(CACNA2D2):c.3321C>T (p.Ala1107=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1610808	NM_006030.4(CACNA2D2):c.3318G>A (p.Gly1106=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 416548	NM_006030.4(CACNA2D2):c.3315C>T (p.Arg1105=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 864823	NM_006030.4(CACNA2D2):c.3314G>A (p.Arg1105His)	CACNA2D2, LOC127898564 (R1105H +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1037817	NM_006030.4(CACNA2D2):c.3311G>T (p.Gly1104Val)	CACNA2D2, LOC127898564 (G1037V +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 804487	NM_006030.4(CACNA2D2):c.3307T>A (p.Cys1103Ser)	CACNA2D2, CYB561D2 +1 more (C1103S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747268	NM_006030.4(CACNA2D2):c.3306C>T (p.Asp1102=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1096916	NM_006030.4(CACNA2D2):c.3300C>T (p.Thr1100=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1405666	NM_006030.4(CACNA2D2):c.3299C>T (p.Thr1100Ile)	CACNA2D2, LOC127898564 (T1033I +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1578918	NM_006030.4(CACNA2D2):c.3292-4G>A	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1641132	NM_006030.4(CACNA2D2):c.3292-6C>T	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1535176	NM_006030.4(CACNA2D2):c.3292-9dup	CACNA2D2, LOC127898564	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 765683	NM_006030.4(CACNA2D2):c.3292-8C>A	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1089358	NM_006030.4(CACNA2D2):c.3292-10C>T	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2077907	NM_006030.4(CACNA2D2):c.3292-12C>T	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1544116	NM_006030.4(CACNA2D2):c.3292-12C>G	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3009615	NM_006030.4(CACNA2D2):c.3291+20G>A	CACNA2D2, LOC127898564	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, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1545772	NM_006030.4(CACNA2D2):c.3291+16G>T	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1558278	NM_006030.4(CACNA2D2):c.3291+14G>A	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1352887	NM_006030.4(CACNA2D2):c.3291+13G>A	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2176848	NM_006030.4(CACNA2D2):c.3291+10G>A	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 585338	NM_006030.4(CACNA2D2):c.3291+10G>C	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1036236	NM_006030.4(CACNA2D2):c.3287C>T (p.Ala1096Val)	CACNA2D2, LOC127898564 (A1098V +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1478779	NM_006030.4(CACNA2D2):c.3286G>C (p.Ala1096Pro)	LOC127898564, CACNA2D2 (A1098P +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 240277	NM_006030.4(CACNA2D2):c.3286G>A (p.Ala1096Thr)	CACNA2D2, LOC127898564 (A1096T +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1138173	NM_006030.4(CACNA2D2):c.3279C>T (p.Asp1093=)	CACNA2D2, LOC127898564	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, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 411008	NM_006030.4(CACNA2D2):c.3267C>A (p.His1089Gln)	CACNA2D2, LOC127898564 (H1089Q +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1304687	NM_006030.4(CACNA2D2):c.3263C>T (p.Pro1088Leu)	CACNA2D2, CYB561D2 +1 more (P1021L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1079261	NM_006030.4(CACNA2D2):c.3261C>A (p.Gly1087=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 698516	NM_006030.4(CACNA2D2):c.3261C>T (p.Gly1087=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2752199	NM_006030.4(CACNA2D2):c.3247C>T (p.Arg1083Ter)	CACNA2D2, LOC127898564 (R1016* +4 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1960707	NM_006030.4(CACNA2D2):c.3244C>A (p.Pro1082Thr)	CACNA2D2, LOC127898564 (P1015T +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 842913	NM_006030.4(CACNA2D2):c.3242G>C (p.Arg1081Thr)	CACNA2D2, LOC127898564 (R1014T +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 998913	NM_006030.4(CACNA2D2):c.3235G>A (p.Val1079Met)	CACNA2D2, LOC127898564 (V1012M +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530544	NM_006030.4(CACNA2D2):c.3225G>A (p.Gln1075=)	LOC127898564, CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1453151	NM_006030.4(CACNA2D2):c.3223C>T (p.Gln1075Ter)	CACNA2D2, LOC127898564 (Q1077* +3 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1409665	NM_006030.4(CACNA2D2):c.3220G>A (p.Glu1074Lys)	CACNA2D2, LOC127898564 (E1007K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 697108	NM_006030.4(CACNA2D2):c.3219G>C (p.Pro1073=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1025987	NM_006030.4(CACNA2D2):c.3218C>A (p.Pro1073Gln)	CACNA2D2, LOC127898564 (P1006Q +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 656108	NM_006030.4(CACNA2D2):c.3218C>T (p.Pro1073Leu)	CACNA2D2, LOC127898564 (P1073L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 795646	NM_006030.4(CACNA2D2):c.3216C>T (p.Gly1072=)	LOC127898564, CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 937151	NM_006030.4(CACNA2D2):c.3212A>G (p.Asp1071Gly)	CACNA2D2, LOC127898564 (D1073G +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2741148	NM_006030.4(CACNA2D2):c.3210G>T (p.Ser1070=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 416549	NM_006030.4(CACNA2D2):c.3209-4C>T	CACNA2D2, LOC127898564 (P1071S +1 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 794671	NM_006030.4(CACNA2D2):c.3209-6G>A	CACNA2D2, LOC127898564 (C1070Y +1 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1498252	NM_006030.4(CACNA2D2):c.3209-7T>C	CACNA2D2, LOC127898564	Single nucleotide variant (splice acceptor variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2700914	NM_006030.4(CACNA2D2):c.3209-12A>T	CACNA2D2, LOC127898564	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, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1663587	NM_006030.4(CACNA2D2):c.3209-16C>A	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1634261	NM_006030.4(CACNA2D2):c.3209-16C>T	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2772571	NM_006030.4(CACNA2D2):c.3209-20G>A	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2800737	NM_006030.4(CACNA2D2):c.3208+15C>T	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 530635	NM_006030.4(CACNA2D2):c.3208+10C>T	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2116155	NM_006030.4(CACNA2D2):c.3208+8_3208+9insA	CACNA2D2, LOC127898564	Insertion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2038803	NM_006030.4(CACNA2D2):c.3208+9C>T	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1083616	NM_006030.4(CACNA2D2):c.3208+9C>G	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2114946	NM_006030.4(CACNA2D2):c.3208+8G>A	CACNA2D2, LOC127898564	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2173697	NM_006030.4(CACNA2D2):c.3205C>T (p.His1069Tyr)	CACNA2D2, LOC127898564 (H1000Y +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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