KCNMA1-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 1227560	NM_001161352.2(KCNMA1):c.3461+237C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1529510	NM_001161352.2(KCNMA1):c.3461+17A>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1377392	NM_001161352.2(KCNMA1):c.3457A>C (p.Lys1153Gln)	KCNMA1, KCNMA1-AS1 (K1045Q +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1146560	NM_001161352.2(KCNMA1):c.3444C>T (p.Pro1148=)	KCNMA1-AS1, KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2444543	NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)	KCNMA1, KCNMA1-AS1 (P1040R +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +2 more	GUncertain significance
Select item 532957	NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1936260	NM_001161352.2(KCNMA1):c.3440C>A (p.Thr1147Asn)	KCNMA1, KCNMA1-AS1 (T1092N +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1063978	NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile)	KCNMA1, KCNMA1-AS1 (T1039I +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1556600	NM_001161352.2(KCNMA1):c.3435C>G (p.Leu1145=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1632551	NM_001161352.2(KCNMA1):c.3426T>C (p.Asp1142=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
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 792796	NM_001161352.2(KCNMA1):c.3420G>A (p.Leu1140=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 532943	NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln)	KCNMA1, KCNMA1-AS1 (R1081Q +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1315190	NM_001161352.2(KCNMA1):c.3415C>T (p.Arg1139Trp)	KCNMA1, KCNMA1-AS1 (R1031W +9 more)	Single nucleotide variant (missense variant)	not provided	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 759119	NM_001161352.2(KCNMA1):c.3387A>G (p.Thr1129=)	KCNMA1-AS1, KCNMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756627	NM_001161352.2(KCNMA1):c.3363T>C (p.Asp1121=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1081129	NM_001161352.2(KCNMA1):c.3357T>C (p.Tyr1119=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
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 1708787	NM_001161352.2(KCNMA1):c.3347G>C (p.Gly1116Ala)	KCNMA1-AS1, KCNMA1 (G1008A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026150	NM_001161352.2(KCNMA1):c.3345T>C (p.Asp1115=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2007589	NM_001161352.2(KCNMA1):c.3343-15T>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1632892	NM_001161352.2(KCNMA1):c.3343-17C>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1221813	NM_001161352.2(KCNMA1):c.3343-72G>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179300	NM_001161352.2(KCNMA1):c.3343-275A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187944	NM_001161352.2(KCNMA1):c.3342+144T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1623387	NM_001161352.2(KCNMA1):c.3342+17G>A	KCNMA1-AS1, KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1588518	NM_001161352.2(KCNMA1):c.3342+16C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1946462	NM_001161352.2(KCNMA1):c.3342+11A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 195875	NM_001161352.2(KCNMA1):c.3342+10C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
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 735325	NM_001161352.2(KCNMA1):c.3337T>C (p.Leu1113=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
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 300959	NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1106739	NM_001161352.2(KCNMA1):c.3324G>A (p.Gly1108=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 939582	NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn)	KCNMA1, KCNMA1-AS1 (D1049N +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 532954	NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1386817	NM_001161352.2(KCNMA1):c.3316C>T (p.Leu1106Phe)	KCNMA1, KCNMA1-AS1 (L1052F +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 3343229	NM_001161352.2(KCNMA1):c.3313C>G (p.Leu1105Val)	KCNMA1, KCNMA1-AS1 (L1047V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1126399	NM_001161352.2(KCNMA1):c.3306G>A (p.Gln1102=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2044167	NM_001161352.2(KCNMA1):c.3302C>T (p.Ala1101Val)	KCNMA1, KCNMA1-AS1 (A1074V +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1573724	NM_001161352.2(KCNMA1):c.3297C>T (p.Arg1099=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1708427	NM_001161352.2(KCNMA1):c.3295C>T (p.Arg1099Cys)	KCNMA1, KCNMA1-AS1 (R1041C +9 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2092623	NM_001161352.2(KCNMA1):c.3290G>A (p.Arg1097His)	KCNMA1, KCNMA1-AS1 (R1043H +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 1423637	NM_001161352.2(KCNMA1):c.3289C>T (p.Arg1097Cys)	KCNMA1, KCNMA1-AS1 (R1070C +9 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 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 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 960894	NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser)	KCNMA1, KCNMA1-AS1 (N1039S +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	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 767171	NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1515277	NM_001161352.2(KCNMA1):c.3266C>T (p.Pro1089Leu)	KCNMA1, KCNMA1-AS1 (P1031L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3253233	NM_001161352.2(KCNMA1):c.3263C>A (p.Thr1088Asn)	KCNMA1, KCNMA1-AS1 (T1030N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 834578	NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile)	KCNMA1, KCNMA1-AS1 (T1030I +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	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 1667054	NM_001161352.2(KCNMA1):c.3258C>T (p.Tyr1086=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2160997	NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)	KCNMA1, KCNMA1-AS1 (A1027T +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 284179	NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1147816	NM_001161352.2(KCNMA1):c.3210G>A (p.Pro1070=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1549417	NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 129326	NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely 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 2049649	NM_001161352.2(KCNMA1):c.3192G>C (p.Val1064=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1536526	NM_001161352.2(KCNMA1):c.3186C>G (p.Thr1062=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 650743	NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln)	KCNMA1-AS1, KCNMA1 (R1006Q +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2193592	NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp)	KCNMA1-AS1, KCNMA1 (R1003W +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2784431	NM_001161352.2(KCNMA1):c.3177G>C (p.Leu1059=)	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 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 1025180	NM_001161352.2(KCNMA1):c.3166A>G (p.Ile1056Val)	KCNMA1, KCNMA1-AS1 (I1001V +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 265313	NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)	KCNMA1-AS1, KCNMA1 (N995S +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GPathogenic
Select item 2003797	NM_001161352.2(KCNMA1):c.3156C>T (p.Phe1052=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 532955	NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1006942	NM_001161352.2(KCNMA1):c.3149C>T (p.Thr1050Met)	KCNMA1, KCNMA1-AS1 (T1022M +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1424867	NM_001161352.2(KCNMA1):c.3148A>G (p.Thr1050Ala)	KCNMA1, KCNMA1-AS1 (T1022A +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1123263	NM_001161352.2(KCNMA1):c.3148-6C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 502217	NM_001161352.2(KCNMA1):c.3148-8T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1913617	NM_001161352.2(KCNMA1):c.3148-10C>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1998320	NM_001161352.2(KCNMA1):c.3148-17T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1188372	NM_001161352.2(KCNMA1):c.3148-34A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191900	NM_001161352.2(KCNMA1):c.3147+291A>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195581	NM_001161352.2(KCNMA1):c.3147+277G>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248543	NM_001161352.2(KCNMA1):c.3147+149A>G	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1955264	NM_001161352.2(KCNMA1):c.3147+20C>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2041713	NM_001161352.2(KCNMA1):c.3147+19T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 878089	NM_001161352.2(KCNMA1):c.3147+15T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 1553365	NM_001161352.2(KCNMA1):c.3147+14T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron 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 1646968	NM_001161352.2(KCNMA1):c.3147+10C>T	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
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 947681	NM_001161352.2(KCNMA1):c.3147+6T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Cerebellar atrophy, developmental delay, and seizures +3 more	GConflicting classifications of pathogenicity
Select item 1348673	NM_001161352.2(KCNMA1):c.3147+3G>A	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	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 disorder	GUncertain significance
Select item 532941	NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1468211	NM_001161352.2(KCNMA1):c.3146C>T (p.Ala1049Val)	KCNMA1, KCNMA1-AS1 (A994V +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1043988	NM_001161352.2(KCNMA1):c.3145G>A (p.Ala1049Thr)	KCNMA1, KCNMA1-AS1 (A1022T +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 464296	NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GLikely benign

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