ClinVar for Gene (Select 101929328) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3044548	NM_001161352.2(KCNMA1):c.2484+1671T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant +1 more)	KCNMA1-related condition	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 2835682	NM_001161352.2(KCNMA1):c.2553C>T (p.Ser851=)	KCNMA1-AS1, KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2835204	NM_001161352.2(KCNMA1):c.2475A>T (p.Lys825Asn)	KCNMA1, KCNMA1-AS1 (K771N +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2834853	NM_001161352.2(KCNMA1):c.3342+20G>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2833795	NM_001161352.2(KCNMA1):c.2423A>C (p.Lys808Thr)	KCNMA1, KCNMA1-AS1 (K757T +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2832821	NM_001161352.2(KCNMA1):c.2903-4C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2832587	NM_001161352.2(KCNMA1):c.2933C>T (p.Ser978Phe)	KCNMA1, KCNMA1-AS1 (S978F +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2821264	NM_001161352.2(KCNMA1):c.3136C>T (p.Leu1046Phe)	KCNMA1, KCNMA1-AS1 (L938F +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2820424	NM_001161352.2(KCNMA1):c.2710-14C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2818868	NM_001161352.2(KCNMA1):c.2361-8C>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2815662	NM_001161352.2(KCNMA1):c.2460C>A (p.Pro820=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2813827	NM_001161352.2(KCNMA1):c.3147+13G>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2803953	NM_001161352.2(KCNMA1):c.3013C>T (p.Leu1005=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2802309	NM_001161352.2(KCNMA1):c.2481C>A (p.Ile827=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	KCNMA1-related condition +1 more	GLikely benign
Select item 2799236	NM_001161352.2(KCNMA1):c.2396T>C (p.Ile799Thr)	KCNMA1, KCNMA1-AS1 (I590T +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2796501	NM_001161352.2(KCNMA1):c.2709+10A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2796372	NM_001161352.2(KCNMA1):c.2709T>C (p.Pro903=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2796270	NM_001161352.2(KCNMA1):c.2791A>G (p.Asn931Asp)	KCNMA1, KCNMA1-AS1 (N876D +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2785108	NM_001161352.2(KCNMA1):c.2568C>T (p.Gly856=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2784431	NM_001161352.2(KCNMA1):c.3177G>C (p.Leu1059=)	KCNMA1-AS1, KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2779888	NM_001161352.2(KCNMA1):c.2580G>A (p.Leu860=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2770268	NM_001161352.2(KCNMA1):c.2710-12T>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2768613	NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2767846	NM_001161352.2(KCNMA1):c.3016+18C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2767696	NM_001161352.2(KCNMA1):c.3168C>G (p.Ile1056Met)	KCNMA1, KCNMA1-AS1 (I948M +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2767446	NM_001161352.2(KCNMA1):c.3285G>C (p.Arg1095Ser)	KCNMA1, KCNMA1-AS1 (R1037S +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2763884	NM_001161352.2(KCNMA1):c.3388T>G (p.Tyr1130Asp)	KCNMA1, KCNMA1-AS1 (Y921D +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2752138	NM_001161352.2(KCNMA1):c.2487T>G (p.Thr829=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2746831	NM_001161352.2(KCNMA1):c.3192G>A (p.Val1064=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2746464	NM_001161352.2(KCNMA1):c.3066T>C (p.Pro1022=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2745588	NM_001161352.2(KCNMA1):c.2902+11C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2742570	NM_001161352.2(KCNMA1):c.3016+16_3016+17inv	KCNMA1, KCNMA1-AS1	Inversion (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2739536	NM_001161352.2(KCNMA1):c.3054T>C (p.Asp1018=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2738258	NM_001161352.2(KCNMA1):c.2523T>C (p.His841=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2737802	NM_001161352.2(KCNMA1):c.2802T>C (p.Asp934=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2726721	NM_001161352.2(KCNMA1):c.2360+11G>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2721636	NM_001161352.2(KCNMA1):c.3342+8C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2714216	NM_001161352.2(KCNMA1):c.2267-14G>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2702333	NM_001161352.2(KCNMA1):c.3016+2T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (splice donor variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely pathogenic
Select item 2698715	NM_001161352.2(KCNMA1):c.2689C>T (p.Pro897Ser)	KCNMA1, KCNMA1-AS1 (P839S +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2689290	NM_001161352.2(KCNMA1):c.2663G>A (p.Arg888Gln)	KCNMA1, KCNMA1-AS1 (R679Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682535	NM_001161352.2(KCNMA1):c.2327G>T (p.Arg776Leu)	KCNMA1, KCNMA1-AS1 (R567L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671657	NM_001161352.2(KCNMA1):c.2974T>G (p.Ser992Ala)	KCNMA1, KCNMA1-AS1 (S783A +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2663686	NM_001161352.2(KCNMA1):c.2662C>T (p.Arg888Trp)	KCNMA1, KCNMA1-AS1 (R679W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640616	NM_001161352.2(KCNMA1):c.2484+1659G>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640615	NM_001161352.2(KCNMA1):c.2484+1764G>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640614	NM_001161352.2(KCNMA1):c.2647A>G (p.Ile883Val)	KCNMA1, KCNMA1-AS1 (I674V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640613	NM_001161352.2(KCNMA1):c.3334G>A (p.Asp1112Asn)	KCNMA1, KCNMA1-AS1 (D1004N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631740	NM_001161352.2(KCNMA1):c.3146_3147del (p.Ala1049fs)	KCNMA1, KCNMA1-AS1 (A1021fs +9 more)	Microsatellite (frameshift variant)	KCNMA1-related condition	GUncertain significance
Select item 2630329	NM_001161352.2(KCNMA1):c.2323A>C (p.Met775Leu)	KCNMA1, KCNMA1-AS1 (M566L +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 2629771	NM_001161352.2(KCNMA1):c.3016+879G>T	KCNMA1, KCNMA1-AS1 (V978L +2 more)	Single nucleotide variant (missense variant +1 more)	KCNMA1-related condition	GUncertain significance
Select item 2629023	NM_001161352.2(KCNMA1):c.2837del (p.Ala946fs)	KCNMA1, KCNMA1-AS1 (A737fs +7 more)	Deletion (frameshift variant)	KCNMA1-related condition	GLikely pathogenic
Select item 2581976	NM_001161352.2(KCNMA1):c.3353G>T (p.Cys1118Phe)	KCNMA1, KCNMA1-AS1 (C1010F +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574804	NM_001161352.2(KCNMA1):c.3280A>G (p.Asn1094Asp)	KCNMA1, KCNMA1-AS1 (N1036D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501827	NM_001161352.2(KCNMA1):c.3425A>G (p.Asp1142Gly)	KCNMA1, KCNMA1-AS1 (D1034G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500048	NM_001161352.2(KCNMA1):c.2484+1746C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant +1 more)	Cerebellar atrophy, developmental delay, and seizures +3 more	GUncertain significance
Select item 2499779	NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly)	KCNMA1, KCNMA1-AS1 (S1029G +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2498464	NM_001161352.2(KCNMA1):c.2651A>T (p.Glu884Val)	KCNMA1, KCNMA1-AS1 (E675V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444543	NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)	KCNMA1, KCNMA1-AS1 (P1040R +9 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2433009	NM_001161352.2(KCNMA1):c.3147+8A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2433008	NM_001161352.2(KCNMA1):c.2837C>T (p.Ala946Val)	KCNMA1, KCNMA1-AS1 (A737V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433007	NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)	KCNMA1, KCNMA1-AS1 (N571S +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 2414040	NM_001161352.2(KCNMA1):c.2798T>C (p.Ile933Thr)	KCNMA1, KCNMA1-AS1 (I724T +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2413015	NM_001161352.2(KCNMA1):c.2326C>T (p.Arg776Trp)	KCNMA1, KCNMA1-AS1 (R567W +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2308750	NM_001161352.2(KCNMA1):c.2383G>C (p.Gly795Arg)	KCNMA1, KCNMA1-AS1 (G740R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2231002	NM_001161352.2(KCNMA1):c.2305A>G (p.Lys769Glu)	KCNMA1-AS1, KCNMA1 (K714E +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202656	NM_001161352.2(KCNMA1):c.2820C>T (p.Asp940=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2198059	NM_001161352.2(KCNMA1):c.2903-11C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2197812	NM_001161352.2(KCNMA1):c.2710-8_2710-7inv	KCNMA1, KCNMA1-AS1	Inversion (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2193592	NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp)	KCNMA1, KCNMA1-AS1 (R1003W +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2160997	NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)	KCNMA1, KCNMA1-AS1 (A1027T +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2143931	NM_001161352.2(KCNMA1):c.2267-10G>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2142551	NM_001161352.2(KCNMA1):c.3017-19T>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2140665	NM_001161352.2(KCNMA1):c.2556A>G (p.Ser852=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	KCNMA1-related condition +1 more	GLikely benign
Select item 2139271	NM_001161352.2(KCNMA1):c.2709+17A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign

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