ClinVar for Gene (Select 3778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251905	NM_001161352.2(KCNMA1):c.2267-4483T>C	KCNMA1, KCNMA1-AS1 (Y526H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244839	NC_000010.10:g.(?_79397003)_(79397400_?)dup	KCNMA1	Duplication	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3068628	NM_001161352.2(KCNMA1):c.2173del (p.Ser725fs)	KCNMA1 (S725fs)	Deletion (frameshift variant +1 more)	Cerebellar atrophy, developmental delay, and seizures	GLikely pathogenic
Select item 3067707	NM_001161352.2(KCNMA1):c.2979C>T (p.Ile993=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3067407	NM_001161352.2(KCNMA1):c.2311C>T (p.Arg771Trp)	KCNMA1, KCNMA1-AS1 (R562W +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063169	GRCh37/hg19 10q22.3(chr10:78569588-78649411)x3	KCNMA1	Copy number gain	not specified	GUncertain significance
Select item 3063138	GRCh37/hg19 10q22.3(chr10:78583466-78651927)x3	KCNMA1	Copy number gain	not specified	GUncertain significance
Select item 3058232	NM_001161352.2(KCNMA1):c.2193C>T (p.Asn731=)	KCNMA1	Single nucleotide variant (synonymous variant +1 more)	KCNMA1-related disorder	GLikely benign
Select item 3055888	NM_001161352.2(KCNMA1):c.378+897C>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +2 more)	KCNMA1-related disorder	GBenign
Select item 3048109	NM_001161352.2(KCNMA1):c.2123G>A (p.Arg708Gln)	KCNMA1 (R708Q)	Single nucleotide variant (missense variant +1 more)	KCNMA1-related disorder	GLikely benign
Select item 3045059	NM_001161352.2(KCNMA1):c.603-32564A>G	KCNMA1	Single nucleotide variant (intron variant)	KCNMA1-related disorder	GLikely benign
Select item 3044925	NM_001161352.2(KCNMA1):c.378+487A>C	KCNMA1	Single nucleotide variant (synonymous variant +1 more)	KCNMA1-related disorder	GLikely benign
Select item 3044548	NM_001161352.2(KCNMA1):c.2484+1671T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant +1 more)	KCNMA1-related disorder	GLikely benign
Select item 3042344	NM_001161352.2(KCNMA1):c.378+266G>A	KCNMA1 (W129*)	Single nucleotide variant (nonsense +1 more)	KCNMA1-related disorder +1 more	GLikely benign
Select item 3035471	NM_001161352.2(KCNMA1):c.378+808C>T	KCNMA1 (P146L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	KCNMA1-related disorder	GLikely benign
Select item 3023060	NM_001161352.2(KCNMA1):c.2880A>C (p.Gly960=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3022160	NM_001161352.2(KCNMA1):c.180G>C (p.Ser60=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3022106	NM_001161352.2(KCNMA1):c.211A>G (p.Ile71Val)	KCNMA1 (I71V)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3020487	NM_001161352.2(KCNMA1):c.1904A>G (p.Tyr635Cys)	KCNMA1 (Y581C +2 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3018386	NM_001161352.2(KCNMA1):c.768C>T (p.Pro256=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3017958	NM_001161352.2(KCNMA1):c.2302A>G (p.Lys768Glu)	KCNMA1, KCNMA1-AS1 (K559E +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3015101	NM_001161352.2(KCNMA1):c.1131+11A>G	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3014779	NM_001161352.2(KCNMA1):c.1593+11G>A	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3014078	NM_001161352.2(KCNMA1):c.13GGC[9] (p.Gly10_Ser11insGlyGlyGly)	KCNMA1	Microsatellite (inframe_insertion)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3013042	NM_001161352.2(KCNMA1):c.2485-19C>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3011027	NM_001161352.2(KCNMA1):c.3282T>C (p.Asn1094=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3009928	NM_001161352.2(KCNMA1):c.696+16A>G	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3007509	NM_001161352.2(KCNMA1):c.1441-7G>A	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3006853	NM_001161352.2(KCNMA1):c.389A>G (p.Lys130Arg)	KCNMA1 (K130R)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3005868	NM_001161352.2(KCNMA1):c.960+5_960+8dup	KCNMA1	Duplication (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3004617	NM_001161352.2(KCNMA1):c.2015+20T>C	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3003163	NM_001161352.2(KCNMA1):c.297C>T (p.Phe99=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3002978	NM_001161352.2(KCNMA1):c.68T>A (p.Leu23His)	KCNMA1 (L23H)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3001091	NM_001161352.2(KCNMA1):c.3175C>T (p.Leu1059=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3000367	NM_001161352.2(KCNMA1):c.996A>G (p.Gln332=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 3000190	NM_001161352.2(KCNMA1):c.161C>T (p.Ser54Phe)	KCNMA1 (S54F)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2996160	NM_001161352.2(KCNMA1):c.418G>A (p.Gly140Ser)	KCNMA1 (G140S)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2996102	NM_001161352.2(KCNMA1):c.3016+17G>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2994243	NM_001161352.2(KCNMA1):c.2361-13C>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2989133	NM_001161352.2(KCNMA1):c.2545G>A (p.Asp849Asn)	KCNMA1-AS1, KCNMA1 (D794N +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2988335	NM_001161352.2(KCNMA1):c.3286G>A (p.Asp1096Asn)	KCNMA1, KCNMA1-AS1 (D1038N +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2988066	NM_001161352.2(KCNMA1):c.171C>T (p.Ser57=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2984385	NM_001161352.2(KCNMA1):c.2706G>A (p.Leu902=)	KCNMA1-AS1, KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2980337	NM_001161352.2(KCNMA1):c.132_143dup (p.Ser60_Val61insSerSerSerSer)	KCNMA1	Duplication (inframe_insertion)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2977548	NM_001161352.2(KCNMA1):c.2868T>C (p.Asp956=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2974335	NM_001161352.2(KCNMA1):c.12_20dup (p.Gly10_Ser11insGlyGlyGly)	KCNMA1	Duplication (inframe_insertion)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2966336	NM_001161352.2(KCNMA1):c.1928+19A>G	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2963488	NM_001161352.2(KCNMA1):c.1860-14C>G	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2961794	NM_001161352.2(KCNMA1):c.868A>C (p.Asn290His)	KCNMA1 (N110H +2 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2961776	NM_001161352.2(KCNMA1):c.1593+17C>T	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2961151	NM_001161352.2(KCNMA1):c.300G>A (p.Gly100=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2960990	NM_001161352.2(KCNMA1):c.696+11G>A	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2955807	NM_001161352.2(KCNMA1):c.1524-16G>A	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2920500	NM_001161352.2(KCNMA1):c.1989C>G (p.Ile663Met)	KCNMA1 (I663M +3 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2918826	NM_001161352.2(KCNMA1):c.1653C>G (p.Leu551=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2913588	NM_001161352.2(KCNMA1):c.1224-15G>A	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2912250	NM_001161352.2(KCNMA1):c.885-4A>G	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2910243	NM_001161352.2(KCNMA1):c.14_15insAGG (p.Gly10dup)	KCNMA1	Insertion (inframe_insertion)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2910232	NM_001161352.2(KCNMA1):c.1297C>A (p.Arg433=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2905605	NM_001161352.2(KCNMA1):c.85A>T (p.Ile29Phe)	KCNMA1 (I29F)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2905018	NM_001161352.2(KCNMA1):c.450G>A (p.Glu150=)	KCNMA1	Single nucleotide variant (synonymous variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2902266	NM_001161352.2(KCNMA1):c.2943C>T (p.Asn981=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2899512	NM_001161352.2(KCNMA1):c.458C>T (p.Ala153Val)	KCNMA1 (A153V)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2898681	NM_001161352.2(KCNMA1):c.111C>T (p.Asp37=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2897078	NM_001161352.2(KCNMA1):c.12_17dup (p.Gly10_Ser11insGlyGly)	KCNMA1	Duplication (inframe_insertion)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2895130	NM_001161352.2(KCNMA1):c.27_56dup (p.Ser22_Leu23insGlyGlyGlyGlyGlyGlyGlyGlySerSer)	KCNMA1	Duplication (inframe_insertion)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2894664	NM_001161352.2(KCNMA1):c.176C>T (p.Ser59Phe)	KCNMA1 (S59F)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2894662	NM_001161352.2(KCNMA1):c.2360+13G>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2893314	NM_001161352.2(KCNMA1):c.1245C>T (p.His415=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2890707	NM_001161352.2(KCNMA1):c.2289A>G (p.Thr763=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2886549	NM_001161352.2(KCNMA1):c.2902+19A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2880882	NM_001161352.2(KCNMA1):c.741C>T (p.Asn247=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2878912	NM_001161352.2(KCNMA1):c.2988G>A (p.Gly996=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2877925	NM_001161352.2(KCNMA1):c.884+13T>C	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2876996	NM_001161352.2(KCNMA1):c.1596C>G (p.Ala532=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2874936	NM_001161352.2(KCNMA1):c.1208C>T (p.Ala403Val)	KCNMA1 (A403V +2 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2872593	NM_001161352.2(KCNMA1):c.809-5dup	KCNMA1	Duplication (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2871577	NM_001161352.2(KCNMA1):c.3549C>T (p.Gly1183=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2869226	NM_001161352.2(KCNMA1):c.186C>T (p.His62=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2868764	NM_001161352.2(KCNMA1):c.2326C>A (p.Arg776=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2866161	NM_001161352.2(KCNMA1):c.1749+2T>C	KCNMA1	Single nucleotide variant (splice donor variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely pathogenic
Select item 2864991	NM_001161352.2(KCNMA1):c.3086C>T (p.Thr1029Met)	KCNMA1, KCNMA1-AS1 (T1001M +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2864822	NM_001161352.2(KCNMA1):c.3541A>G (p.Asn1181Asp)	KCNMA1 (N1073D +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2864799	NM_001161352.2(KCNMA1):c.1515T>A (p.Asn505Lys)	KCNMA1 (N325K +2 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2864147	NM_001161352.2(KCNMA1):c.3585G>A (p.Ser1195=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2862542	NM_001161352.2(KCNMA1):c.2353C>G (p.Leu785Val)	KCNMA1, KCNMA1-AS1 (L785V +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2858836	NM_001161352.2(KCNMA1):c.1077T>C (p.Tyr359=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2857882	NM_001161352.2(KCNMA1):c.2795A>G (p.Asn932Ser)	KCNMA1, KCNMA1-AS1 (N915S +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2852802	NM_001161352.2(KCNMA1):c.2034G>A (p.Lys678=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2850463	NM_001161352.2(KCNMA1):c.2267-8A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2850250	NM_001161352.2(KCNMA1):c.1335-6G>C	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2847182	NM_001161352.2(KCNMA1):c.1609A>C (p.Ile537Leu)	KCNMA1 (I483L +2 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2845714	NM_001161352.2(KCNMA1):c.1744A>G (p.Ile582Val)	KCNMA1 (I402V +2 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2845434	NM_001161352.2(KCNMA1):c.2926A>G (p.Arg976Gly)	KCNMA1, KCNMA1-AS1 (R918G +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2845217	NM_001161352.2(KCNMA1):c.466G>C (p.Val156Leu)	KCNMA1 (V156L)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2843715	NM_001161352.2(KCNMA1):c.3492T>C (p.Phe1164=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2842236	NM_001161352.2(KCNMA1):c.1713G>A (p.Met571Ile)	KCNMA1 (M391I +2 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2842194	NM_001161352.2(KCNMA1):c.436G>A (p.Asp146Asn)	KCNMA1 (D146N)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2840241	NM_001161352.2(KCNMA1):c.474G>C (p.Trp158Cys)	KCNMA1 (W158C)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2838863	NM_001161352.2(KCNMA1):c.2786A>G (p.Asn929Ser)	KCNMA1, KCNMA1-AS1 (N821S +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance

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