STRIDE-DB

Repeat Length	AFR	AMR	EUR	EAS	SAS	Repeat
13.0	50	50	130	115	147	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
10.3	0	0	2	1	0	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT
10.7	1	0	0	0	0	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG
11.0	363	105	127	55	282	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
11.3	1	3	0	0	2	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT
11.7	0	0	1	0	0	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG
12.3	0	0	0	0	1	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT
14.0	5	5	14	20	9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
15.0	3	0	0	4	0	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
12.0	132	26	60	29	62	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
18.0	0	0	0	2	0	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
16.0	0	0	0	3	0	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
4.0	1	2	2	0	8	TGCTGCTGCTGC
6.0	3	1	4	0	4	TGCTGCTGCTGCTGCTGC
9.0	3	0	2	0	5	TGCTGCTGCTGCTGCTGCTGCTGCTGC
7.3	0	2	2	0	0	TGCTGCTGCTGCTGCTGCTGCT
7.0	43	18	50	17	92	TGCTGCTGCTGCTGCTGCTGC
8.0	5	0	0	0	3	TGCTGCTGCTGCTGCTGCTGCTGC
8.3	0	0	1	0	0	TGCTGCTGCTGCTGCTGCTGCTGCT
10.0	26	6	5	2	13	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC

Position	Disease/Trait	P-value	SNPs	Location with respect to STR	distance	Study
19:13268826	Educational attainment (years of education),	8.0E-9	rs111730030	downstream	-49848	Genome-wide association study identifies 74 loci associated with educational attainment.
19:13268826	Breast cancer,	2.0E-8	rs111730030	downstream	-49848	Association analysis identifies 65 new breast cancer risk loci.
19:13285293	Age at first birth,	3.0E-10	rs8110682	downstream	-33381	Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour.
19:13285834	Brain region volumes,	5.0E-9	rs74439972	downstream	-32840	Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits.
19:13285834	Highest math class taken (MTAG),	1.0E-8	rs74439972	downstream	-32840	Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
19:13285834	Educational attainment,	6.0E-13	rs74439972	downstream	-32840	Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.
19:13290786	Brain shape (segment 3),	1.0E-14	rs548119374	downstream	-27888	Shared heritability of human face and brain shape.
19:13292263	Educational attainment (years of education),	4.0E-8	rs62109939	downstream	-26411	Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
19:13292745	Cortical surface area,	4.0E-10	rs8103974	downstream	-25929	The genetic architecture of the human cerebral cortex.
19:13312329	Educational attainment,	5.0E-9	rs111420967	downstream	-6345	Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.
19:13320504	Frontal fibrosing alopecia,	5.0E-6	rs79459566	upstream	1830	Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.
19:13332010	Endometriosis,	3.0E-7	rs11085835	upstream	13336	New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study.
19:13339128	Migraine,	5.0E-10	rs10405121	upstream	20454	Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.
19:13365857	Metabolite levels,	7.0E-6	rs16033	upstream	47183	A genome-wide association study of the human metabolome in a community-based cohort.

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
19:13275849	NM_001127222.2(CACNA1A):c.3989+1G>A	rs587776693	not provided\|Episodic ataxia type 2	-42825	Pathogenic
19:13277090	NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)	rs16030	not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-41584	Benign
19:13277122	NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter)	rs121909323	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2	-41552	Pathogenic
19:13283266	NM_001127222.2(CACNA1A):c.3822+1G>A	rs794727355	not provided\|Inborn genetic diseases\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-35408	Pathogenic
19:13283295	NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs)	rs587776692	Episodic ataxia type 2	-35379	Pathogenic
19:13285143	NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)	rs750826355	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided\|Developmental and epileptic encephalopathy, 42	-33531	Uncertain significance
19:13285154	NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)	rs772989979	not specified\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	-33520	Benign
19:13286510	NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)	rs16029	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Migraine, familial hemiplegic, 1\|History of neurodevelopmental disorder	-32164	Benign
19:13286620	NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)	rs376365775	not specified\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	-32054	Uncertain significance
19:13286647	NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)	rs199793367	not specified\|not provided\|History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	-32027	Benign/Likely benign
19:13286746	NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)	rs16027	not provided\|not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-31928	Benign
19:13286747	NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)	rs374749004	not specified\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	-31927	Conflicting interpretations of pathogenicity
19:13286819	NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)	rs16026	not specified\|not provided\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-31855	Benign
19:13298576	NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)	rs16025	not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-20098	Benign
19:13298593	NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	rs16024	not specified\|Inborn genetic diseases\|not provided\|Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Intellectual disability	-20081	Conflicting interpretations of pathogenicity
19:13298605	NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)	rs28413664	not specified\|not provided\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-20069	Benign
19:13298658	NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)	rs16023	not provided\|not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-20016	Benign
19:13298768	NM_001127222.2(CACNA1A):c.2865del (p.Arg956fs)	rs786200962	Episodic ataxia type 2	-19906	Pathogenic
19:13298819	NM_001127222.2(CACNA1A):c.2813dup (p.Ser939fs)	rs587776694	Episodic ataxia type 2	-19855	Pathogenic
19:13298882	NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)	rs16022	not provided\|not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-19792	Benign
19:13298894	NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)	rs16021	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder	-19780	Benign
19:13298896	NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)	rs16020	not specified\|not provided\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-19778	Benign/Likely benign
19:13298946	NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)	rs121908242	Episodic ataxia type 2\|not specified\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-19728	Conflicting interpretations of pathogenicity
19:13299243	NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr)	rs121908241	Episodic ataxia type 2\|not provided	-19431	Uncertain significance
19:13300637	NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)	rs16019	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	-18037	Benign
19:13303576	NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu)	rs121908218	Migraine, familial hemiplegic, 1	-15098	Pathogenic
19:13303576	NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu)	rs121908218	Migraine, familial hemiplegic, 1\|Familial hemiplegic migraine	-15098	Pathogenic
19:13303580	NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala)	rs121908213	Familial hemiplegic migraine\|Migraine, familial hemiplegic, 1	-15094	Pathogenic
19:13303584	NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	NA	Developmental and epileptic encephalopathy, 42\|not provided\|Inborn genetic diseases\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Abnormality of the nervous system\|Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1\|Familial hemiplegic migraine;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-15090	Pathogenic/Likely pathogenic
19:13303588	NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)	rs16017	not specified\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|History of neurodevelopmental disorder	-15086	Benign
19:13303780	NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)	rs16016	not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-14894	Benign
19:13303877	NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212	Migraine, familial hemiplegic, 1\|Migraine, sporadic hemiplegic, with progressive cerebellar ataxia\|Episodic ataxia type 2\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Spinocerebellar ataxia type 6\|Familial hemiplegic migraine\|Developmental and epileptic encephalopathy, 42	-14797	Pathogenic
19:13308123	NM_001127222.2(CACNA1A):c.1910G>A (p.Gly637Asp)	rs121908246	Episodic ataxia type 2	-10551	not provided
19:13308421	NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)	rs16012	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	-10253	Benign
19:13308452	NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217	Migraine, familial hemiplegic, 1\|Sporadic hemiplegic migraine\|Spinocerebellar ataxia type 6\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Familial hemiplegic migraine\|Developmental and epileptic encephalopathy, 52;Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;Episodic ataxia type 2	-10222	Pathogenic
19:13312660	NM_001127222.2(CACNA1A):c.1668+9T>C	rs794727054	not provided	-6014	Uncertain significance
19:13312711	NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)	rs16011	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	-5963	Benign
19:13312714	NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)	rs375628894	not specified\|History of neurodevelopmental disorder\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-5960	Conflicting interpretations of pathogenicity
19:13315086	nsv1067873	NA	Episodic ataxia type 2	-3588	Pathogenic
19:13315086	nsv1067873	NA	Episodic ataxia type 2	-3588	Pathogenic
19:13316256	NC_000019.9:g.(?_13316256)_(13618274_?)dup	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-2418	Uncertain significance
19:13317102	NM_001127222.2(CACNA1A):c.1555+10A>C	rs794727022	not provided	-1572	Uncertain significance
19:13317168	NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)	rs121908240	Episodic ataxia type 2\|not provided	-1506	Conflicting interpretations of pathogenicity
19:13317256	NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del	NA	Migraine, familial hemiplegic, 1	-1418	Pathogenic
19:13317256	NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del	NA	Episodic ataxia type 2	-1418	Pathogenic
19:13317256	NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del	NA	Episodic ataxia type 2	-1418	Pathogenic
19:13317256	NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del	NA	Migraine, familial hemiplegic, 1	-1418	Pathogenic
19:13317310	NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	rs41276886	not provided\|not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	-1364	Benign/Likely benign
19:13317825	NM_001127222.2(CACNA1A):c.*302A>G	NA	not provided	-849	Likely benign
19:13317908	NM_001127222.2(CACNA1A):c.*219A>C	NA	not provided	-766	Likely benign
19:13317980	NM_001127222.2(CACNA1A):c.*147C>A	NA	not provided	-694	Benign
19:13318136	NM_001127222.2(CACNA1A):c.7512T>C (p.Asp2504=)	rs1296592145	not provided	-538	Uncertain significance
19:13318157	NM_001127222.2(CACNA1A):c.7491C>T (p.Pro2497_Tyr2498=)	NA	not provided	-517	Likely benign
19:13318160	NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=)	rs745440661	not provided	-514	Uncertain significance
19:13318203	NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg)	NA	Developmental and epileptic encephalopathy, 42	-471	Uncertain significance
19:13318207	NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)	rs765523382	not provided	-467	Uncertain significance
19:13318208	NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)	rs539546830	not specified\|not provided	-466	Benign
19:13318212	NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly)	rs758817759	not provided	-462	Uncertain significance
19:13318217	NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=)	rs16059	not specified\|not provided	-457	Benign
19:13318222	NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His)	rs779631503	not provided	-452	Uncertain significance
19:13318224	NM_001127222.2(CACNA1A):c.7424G>T (p.Gly2475Val)	rs1239663368	Inborn genetic diseases	-450	Uncertain significance
19:13318239	NM_001127222.2(CACNA1A):c.7409G>A (p.Arg2470Gln)	rs754738036	not provided	-435	Uncertain significance
19:13318244	NM_001127222.2(CACNA1A):c.7404C>A (p.His2468Gln)	rs748037256	CACNA1A-related disorders	-430	Uncertain significance
19:13318246	NM_001127222.2(CACNA1A):c.7378_7402del (p.Pro2460fs)	NA	not provided	-428	Uncertain significance
19:13318248	NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln)	rs1199275549	Episodic ataxia type 2\|not provided	-426	Uncertain significance
19:13318248	NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)	rs1199275549	not provided\|Developmental and epileptic encephalopathy, 42	-426	Uncertain significance
19:13318257	NM_001127222.2(CACNA1A):c.7391C>T (p.Ser2464Leu)	NA	not provided	-417	Uncertain significance
19:13318279	NM_001127222.2(CACNA1A):c.7369G>T (p.Ala2457Ser)	NA	not provided	-395	Uncertain significance
19:13318280	NM_001127222.2(CACNA1A):c.7368G>A (p.Arg2456=)	rs987406696	not provided	-394	Uncertain significance
19:13318283	NM_001127222.2(CACNA1A):c.7365C>A (p.Pro2455=)	rs16057	not specified	-391	Benign
19:13318300	NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys)	rs1397153104	not provided	-374	Uncertain significance
19:13318304	NM_001127222.2(CACNA1A):c.7344C>G (p.Thr2448_Gly2449=)	NA	not provided	-370	Likely benign
19:13318320	NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)	NA	not specified	-354	Benign
19:13318321	NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)	rs533884784	Seizure\|not specified\|not provided	-353	Likely benign
19:13318330	NM_001127222.2(CACNA1A):c.7317dup (p.Val2440fs)	rs1214586505	not provided	-344	Uncertain significance
19:13318332	NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu)	rs1235870142	Developmental and epileptic encephalopathy, 42	-342	Uncertain significance
19:13318342	NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr)	rs754573556	not provided	-332	Uncertain significance
19:13318357	NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)	rs1052515747	not specified\|not provided	-317	Uncertain significance
19:13318374	NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp)	rs555362569	not provided	-300	Benign/Likely benign
19:13318377	NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)	rs775428832	7 conditions\|Episodic ataxia type 2	-297	Conflicting interpretations of pathogenicity
19:13318386	NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)	NA	not provided	-288	Likely benign
19:13318387	NM_001127222.2(CACNA1A):c.7261C>G (p.Pro2421Ala)	NA	not provided	-287	Likely benign
19:13318399	NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter)	NA	Cerebral palsy	-275	Likely pathogenic
19:13318408	NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn)	rs1568416040	not provided	-266	Uncertain significance
19:13318413	NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val)	rs775829854	not provided	-261	Uncertain significance
19:13318415	NM_001127222.2(CACNA1A):c.7233G>C (p.Arg2411=)	rs1015330748	not provided	-259	Likely benign
19:13318445	NM_001127222.2(CACNA1A):c.7203C>T (p.Pro2401=)	rs1218506473	not provided	-229	Likely benign
19:13318451	NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp)	rs973900517	not provided	-223	Uncertain significance
19:13318454	NM_001127222.2(CACNA1A):c.7194C>G (p.Ser2398=)	rs774776009	not provided	-220	Likely benign
19:13318459	NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met)	rs768129470	not provided	-215	Conflicting interpretations of pathogenicity
19:13318483	NM_001127222.2(CACNA1A):c.7165C>T (p.Arg2389Trp)	rs987861675	not provided	-191	Uncertain significance
19:13318488	NM_001127222.2(CACNA1A):c.7160G>A (p.Gly2387Glu)	NA	not provided	-186	Uncertain significance
19:13318504	NM_001127222.2(CACNA1A):c.7144G>T (p.Ala2382Ser)	NA	not provided	-170	Uncertain significance
19:13318512	NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe)	rs2054617641	Developmental and epileptic encephalopathy, 42	-162	Uncertain significance
19:13318524	NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp)	rs2054617959	not provided\|Developmental and epileptic encephalopathy, 1	-150	Uncertain significance
19:13318581	NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met)	rs780098532	Spinocerebellar ataxia type 6	-93	Uncertain significance
19:13318587	NM_001127222.2(CACNA1A):c.7061C>T (p.Pro2354Leu)	rs1421650967	not provided	-87	Uncertain significance
19:13318596	NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu)	rs1442777428	not specified\|not provided	-78	Uncertain significance
19:13318598	NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=)	rs932173199	not provided	-76	Uncertain significance
19:13318646	NM_001127222.2(CACNA1A):c.7002C>T (p.Ala2334=)	rs1057521445	not specified	-28	Likely benign
19:13318653	NM_001127222.2(CACNA1A):c.6995G>A (p.Arg2332Gln)	NA	not provided	-21	Likely benign
19:13318670	NM_001127222.2(CACNA1A):c.6978G>A (p.Ala2326=)	NA	not provided	-4	Likely benign
19:13318671	NM_001127222.2(CACNA1A):c.6974_6976dup (p.Gln2325_Ala2326insGlu)	NA	not provided	-3	Benign
19:13318672	NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)	rs16054	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not specified	-2	Benign/Likely benign
19:13318672	NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)	rs16054	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not specified	-2	Benign/Likely benign
19:13318672	NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)	NA	not provided\|not specified	-2	Benign
19:13318673	NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del)	rs16054	not provided\|Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6\|not specified	-1	Benign/Likely benign
19:13318673	NM_001127222.2(CACNA1A):c.6937CAG[4] (p.Gln2317_Gln2325del)	rs16054	Developmental and epileptic encephalopathy, 42\|not provided	-1	Benign/Likely benign
19:13318673	NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)	NA	not provided	-1	Benign
19:13318673	NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)	NA	not provided	-1	Benign
19:13318673	NM_001127222.2(CACNA1A):c.6937CAG[8] (p.Gln2321_Gln2325del)	NA	not provided	-1	Benign
19:13318683	NM_001127222.2(CACNA1A):c.6964_6965insCAG (p.Gln2322delinsProGlu)	rs879255419	not specified	9	Benign
19:13318683	NM_001127222.2(CACNA1A):c.6964_6965insCAG (p.Gln2322delinsProGlu)	rs879255419	not specified	9	Benign
19:13318683	NM_001127222.2(CACNA1A):c.6965A>G (p.Gln2322Arg)	NA	not provided	9	Uncertain significance
19:13318709	NM_001127222.2(CACNA1A):c.6937CAG[(21_30)]	NA	Spinocerebellar ataxia type 6\|Episodic ataxia type 2	35	Pathogenic
19:13318726	NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser)	NA	See cases	52	Uncertain significance
19:13318747	NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala)	rs1351010453	Developmental and epileptic encephalopathy, 42	73	Uncertain significance
19:13318786	NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs)	NA	Developmental and epileptic encephalopathy, 42	112	Uncertain significance
19:13318809	NM_001127222.2(CACNA1A):c.6839G>T (p.Arg2280Leu)	NA	not provided	135	Uncertain significance
19:13318811	NM_001127222.2(CACNA1A):c.6837G>A (p.Pro2279=)	rs147221323	not specified	137	Benign
19:13318857	NM_001127222.2(CACNA1A):c.6791C>T (p.Ser2264Phe)	NA	not provided	183	Uncertain significance
19:13318860	NC_000019.9:g.(?_13318860)_(13321486_?)dup	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	186	Uncertain significance
19:13318860	NC_000019.9:g.(?_13318860)_(13325442_?)del	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	186	Pathogenic
19:13318863	NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn)	rs2054633316	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	189	Uncertain significance
19:13318866	NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)	rs751364653	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	192	Likely benign
19:13318873	NM_001127222.2(CACNA1A):c.6781-6G>A	rs757167417	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	199	Likely benign
19:13318879	NM_001127222.2(CACNA1A):c.6781-12A>G	rs1289629816	not provided	205	Uncertain significance
19:13318983	NM_001127222.2(CACNA1A):c.6781-121_6781-116del	NA	not provided	309	Benign
19:13318989	NM_001127222.2(CACNA1A):c.6781-139_6781-122del	NA	not provided	315	Benign
19:13318989	NM_001127222.2(CACNA1A):c.6781-130_6781-122del	NA	not provided	315	Benign
19:13318995	NM_001127222.2(CACNA1A):c.6781-148TCC[3]	NA	not provided	321	Likely benign
19:13318995	NM_001127222.2(CACNA1A):c.6781-148TCC[5]	NA	not provided	321	Likely benign
19:13318995	NM_001127222.2(CACNA1A):c.6781-148TCC[4]	NA	not provided	321	Benign
19:13319096	NM_001127222.2(CACNA1A):c.6781-229T>G	NA	not provided	422	Likely benign
19:13319314	NM_001127222.2(CACNA1A):c.6780+256G>C	rs11666294	not provided	640	Benign
19:13319534	NM_001127222.2(CACNA1A):c.6780+36G>A	NA	not provided	860	Benign
19:13319543	NM_001127222.2(CACNA1A):c.6780+27G>A	NA	not provided	869	Benign
19:13319556	NM_001127222.2(CACNA1A):c.6780+13_6780+14delinsTT	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	882	Likely benign
19:13319561	NM_001127222.2(CACNA1A):c.6780+9G>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	887	Likely benign
19:13319562	NM_001127222.2(CACNA1A):c.6780+8C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	888	Likely benign
19:13319562	NM_001127222.2(CACNA1A):c.6780+8C>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	888	Uncertain significance
19:13319563	NM_001127222.2(CACNA1A):c.6780+7G>A	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	889	Likely benign
19:13319567	NM_001127222.2(CACNA1A):c.6780+3G>C	rs1307510001	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	893	Uncertain significance
19:13319574	NM_001127222.2(CACNA1A):c.6776G>A (p.Arg2259Gln)	rs201582095	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|CACNA1A-related disorders\|not provided	900	Uncertain significance
19:13319574	NM_001127222.2(CACNA1A):c.6776G>C (p.Arg2259Pro)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	900	Uncertain significance
19:13319575	NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp)	rs750267834	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	901	Uncertain significance
19:13319575	NM_001127222.2(CACNA1A):c.6775C>A (p.Arg2259=)	rs750267834	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not specified\|not provided	901	Likely benign
19:13319576	NM_001127222.2(CACNA1A):c.6774C>T (p.His2258=)	rs766371895	not specified	902	Likely benign
19:13319579	NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)	rs753884600	Developmental and epileptic encephalopathy, 42	905	Uncertain significance
19:13319579	NM_001127222.2(CACNA1A):c.6771G>T (p.Ala2257=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	905	Likely benign
19:13319580	NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)	rs755099305	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	906	Uncertain significance
19:13319580	NM_001127222.2(CACNA1A):c.6770C>G (p.Ala2257Gly)	rs755099305	not provided	906	Uncertain significance
19:13319581	NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)	rs1057523197	not specified	907	Likely benign
19:13319590	NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln)	rs779063280	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	916	Conflicting interpretations of pathogenicity
19:13319592	NM_001127222.2(CACNA1A):c.6758G>A (p.Arg2253Gln)	rs752950486	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	918	Uncertain significance
19:13319592	NM_001127222.2(CACNA1A):c.6758G>T (p.Arg2253Leu)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	918	Uncertain significance
19:13319593	NM_001127222.2(CACNA1A):c.6757C>T (p.Arg2253Ter)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	919	Uncertain significance
19:13319596	NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser)	rs1433873178	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	922	Uncertain significance
19:13319596	NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys)	rs1433873178	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Developmental and epileptic encephalopathy, 42	922	Uncertain significance
19:13319599	NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)	rs758625682	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	925	Uncertain significance
19:13319600	NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)	rs375958273	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	926	Uncertain significance
19:13319603	NM_001127222.2(CACNA1A):c.6747C>T (p.Pro2249=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	929	Likely benign
19:13319607	NM_001127222.2(CACNA1A):c.6743C>T (p.Ser2248Leu)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	933	Uncertain significance
19:13319610	NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His)	rs1219651327	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	936	Uncertain significance
19:13319611	NM_001127222.2(CACNA1A):c.6739C>T (p.Arg2247Cys)	NA	not provided	937	Uncertain significance
19:13319613	NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe)	rs768312851	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	939	Uncertain significance
19:13319613	NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe)	rs768312851	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	939	Uncertain significance
19:13319614	NM_001127222.2(CACNA1A):c.6736T>C (p.Ser2246Pro)	rs2054680597	Intellectual disability	940	Likely benign
19:13319615	NM_001127222.2(CACNA1A):c.6735G>T (p.Trp2245Cys)	rs2054680655	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	941	Uncertain significance
19:13319618	NM_001127222.2(CACNA1A):c.6732C>T (p.Arg2244=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	944	Likely benign
19:13319619	NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His)	rs1057521565	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	945	Conflicting interpretations of pathogenicity
19:13319620	NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys)	rs1021438528	History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	946	Uncertain significance
19:13319621	NM_001127222.2(CACNA1A):c.6729G>T (p.Gln2243His)	rs774078430	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	947	Uncertain significance
19:13319621	NM_001127222.2(CACNA1A):c.6729G>C (p.Gln2243His)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	947	Uncertain significance
19:13319626	NM_001127222.2(CACNA1A):c.6724G>A (p.Asp2242Asn)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	952	Uncertain significance
19:13319628	NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln)	rs773057074	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	954	Uncertain significance
19:13319629	NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp)	rs760428308	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	955	Uncertain significance
19:13319630	NM_001127222.2(CACNA1A):c.6714_6719dup (p.2238AR[3])	rs1042488847	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	956	Uncertain significance
19:13319631	NM_001127222.2(CACNA1A):c.6710_6719del (p.Arg2237fs)	rs1042488847	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	957	Uncertain significance
19:13319634	NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)	rs753798870	History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	960	Uncertain significance
19:13319635	NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)	rs759576380	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	961	Uncertain significance
19:13319640	NM_001127222.2(CACNA1A):c.6710G>A (p.Arg2237Gln)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	966	Uncertain significance
19:13319640	NM_001127222.2(CACNA1A):c.6710G>T (p.Arg2237Leu)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	966	Uncertain significance
19:13319641	NM_001127222.2(CACNA1A):c.6709C>T (p.Arg2237Trp)	NA	not provided	967	Uncertain significance
19:13319644	NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys)	rs752808137	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	970	Uncertain significance
19:13319644	NM_001127222.2(CACNA1A):c.6706G>A (p.Gly2236Ser)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	970	Uncertain significance
19:13319645	NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=)	rs1376732755	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	971	Likely benign
19:13319646	NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg)	rs758639263	not provided	972	Uncertain significance
19:13319647	NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	973	Uncertain significance
19:13319649	NM_001127222.2(CACNA1A):c.6701del (p.Asp2234fs)	NA	not provided	975	Uncertain significance
19:13319651	NM_001127222.2(CACNA1A):c.6699G>A (p.Pro2233=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	977	Likely benign
19:13319652	NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu)	rs1317740666	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	978	Uncertain significance
19:13319653	NM_001127222.2(CACNA1A):c.6696dup (p.Pro2233fs)	NA	not provided	979	Uncertain significance
19:13319654	NM_001127222.2(CACNA1A):c.6696G>A (p.Arg2232=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	980	Likely benign
19:13319655	NM_001127222.2(CACNA1A):c.6695G>A (p.Arg2232Gln)	rs777894367	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	981	Uncertain significance
19:13319656	NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp)	rs751926317	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	982	Uncertain significance
19:13319659	NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs)	NA	Developmental and epileptic encephalopathy, 42	985	Uncertain significance
19:13319660	NM_001127222.2(CACNA1A):c.6690G>A (p.Gln2230=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	986	Likely benign
19:13319661	NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg)	rs936533797	Hereditary episodic ataxia\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	987	Uncertain significance
19:13319665	NM_001127222.2(CACNA1A):c.6685G>A (p.Ala2229Thr)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	991	Uncertain significance
19:13319666	NM_001127222.2(CACNA1A):c.6684T>G (p.Tyr2228Ter)	rs2054683190	not provided	992	Pathogenic
19:13319670	NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)	rs1064793075	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	996	Uncertain significance
19:13319670	NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)	rs1064793075	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	996	Conflicting interpretations of pathogenicity
19:13319671	NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys)	rs757715357	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	997	Uncertain significance
19:13319672	NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu)	rs1181604906	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	998	Uncertain significance
19:13319681	NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=)	rs2304094	History of neurodevelopmental disorder	1007	Likely benign
19:13319681	NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)	rs2304094	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1007	Conflicting interpretations of pathogenicity
19:13319681	NM_001127222.2(CACNA1A):c.6658_6669del (p.Pro2220_Pro2223del)	NA	not specified	1007	Uncertain significance
19:13319683	NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser)	rs768221184	History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1009	Conflicting interpretations of pathogenicity
19:13319684	NM_001127222.2(CACNA1A):c.6666C>T (p.Pro2222=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1010	Likely benign
19:13319685	NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)	rs1336146310	History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1011	Uncertain significance
19:13319687	NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=)	rs1447103387	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1013	Likely benign
19:13319688	NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu)	rs778551911	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1014	Conflicting interpretations of pathogenicity
19:13319690	NM_001127222.2(CACNA1A):c.6660C>A (p.Pro2220_Pro2221=)	NA	not provided	1016	Likely benign
19:13319691	NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)	rs768950814	not provided	1017	Uncertain significance
19:13319691	NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)	rs768950814	not specified\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|History of neurodevelopmental disorder	1017	Conflicting interpretations of pathogenicity
19:13319691	NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)	rs768950814	not provided	1017	Uncertain significance
19:13319691	NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)	rs768950814	not specified\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|History of neurodevelopmental disorder	1017	Conflicting interpretations of pathogenicity
19:13319691	NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)	rs16052	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	1017	Conflicting interpretations of pathogenicity
19:13319691	NM_001127222.2(CACNA1A):c.6656_6658dup (p.His2219dup)	rs749638821	Intellectual disability	1017	Likely benign
19:13319692	NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del)	rs749638821	not provided\|History of neurodevelopmental disorder	1018	Benign/Likely benign
19:13319692	NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del)	rs776181081	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder	1018	Conflicting interpretations of pathogenicity
19:13319692	NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del)	rs774721955	not specified\|not provided	1018	Conflicting interpretations of pathogenicity
19:13319692	NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del)	rs770368215	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided\|not specified	1018	Conflicting interpretations of pathogenicity
19:13319692	NM_001127222.2(CACNA1A):c.6641_6658del (p.His2214_His2219del)	rs1453912866	History of neurodevelopmental disorder	1018	Uncertain significance
19:13319693	NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)	rs16051	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6	1019	Benign
19:13319693	NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)	rs16051	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6	1019	Benign
19:13319693	NM_001127222.2(CACNA1A):c.6657delinsCCACCAC (p.His2218_His2219dup)	rs1057518615	not specified	1019	Uncertain significance
19:13319693	NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)	rs759331923	not specified\|History of neurodevelopmental disorder\|not provided	1019	Conflicting interpretations of pathogenicity
19:13319693	NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro)	rs1085307607	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1019	Uncertain significance
19:13319693	NM_001127222.2(CACNA1A):c.6630CCA[11] (p.His2218_His2219dup)	rs759331923	not specified	1019	Likely benign
19:13319693	NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)	rs1057518615	not specified\|not provided	1019	Conflicting interpretations of pathogenicity
19:13319694	NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del)	rs759331923	not provided\|not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1020	Benign/Likely benign
19:13319694	NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del)	rs759331923	not provided\|Developmental and epileptic encephalopathy, 1\|Toe walking	1020	Conflicting interpretations of pathogenicity
19:13319694	NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)	rs759331923	not provided	1020	Conflicting interpretations of pathogenicity
19:13319694	NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)	rs772789381	History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Intellectual disability	1020	Uncertain significance
19:13319694	NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del)	NA	not provided	1020	Likely benign
19:13319695	NM_001127222.2(CACNA1A):c.6655C>A (p.His2219Asn)	rs1307304917	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1021	Uncertain significance
19:13319696	NM_001127222.2(CACNA1A):c.6654C>T (p.His2218=)	NA	not provided	1022	Likely benign
19:13319697	NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1023	Uncertain significance
19:13319700	NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu)	rs2054686938	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1026	Uncertain significance
19:13319701	NM_001127222.2(CACNA1A):c.6649C>T (p.His2217Tyr)	rs2054687055	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1027	Uncertain significance
19:13319702	NM_001127222.2(CACNA1A):c.6648C>T (p.His2216=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1028	Likely benign
19:13319703	NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)	rs2054687187	Migraine, familial hemiplegic, 1	1029	Uncertain significance
19:13319704	NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr)	rs760470308	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1030	Uncertain significance
19:13319706	NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)	rs1233829101	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	1032	Uncertain significance
19:13319709	NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg)	rs1600079735	not provided	1035	Uncertain significance
19:13319710	NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1036	Uncertain significance
19:13319713	NM_001127222.2(CACNA1A):c.6637C>T (p.His2213Tyr)	rs1555730624	not provided	1039	Uncertain significance
19:13319714	NM_001127222.2(CACNA1A):c.6636C>T (p.His2212=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1040	Likely benign
19:13319717	NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1043	Uncertain significance
19:13319718	NM_001127222.2(CACNA1A):c.6623_6631dup (p.Arg2208_His2210dup)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1044	Uncertain significance
19:13319720	NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln)	rs1006425986	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1046	Uncertain significance
19:13319721	NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup)	rs1247003992	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1047	Uncertain significance
19:13319721	NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	1047	Uncertain significance
19:13319722	NM_001127222.2(CACNA1A):c.6627dup (p.His2210fs)	rs1568419053	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1048	Uncertain significance
19:13319726	NM_001127222.2(CACNA1A):c.6624A>C (p.Arg2208=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1052	Likely benign
19:13319733	NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1059	Uncertain significance
19:13319735	NM_001127222.2(CACNA1A):c.6615G>A (p.Arg2205=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1061	Likely benign
19:13319736	NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln)	rs756685971	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1062	Uncertain significance
19:13319737	NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp)	rs780467849	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1063	Uncertain significance
19:13319737	NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly)	rs780467849	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1063	Uncertain significance
19:13319740	NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn)	rs747673128	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1066	Uncertain significance
19:13319741	NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn)	rs1276672646	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1067	Uncertain significance
19:13319742	NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)	rs1057521770	not provided\|Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1;Episodic ataxia type 2	1068	Uncertain significance
19:13319744	NM_001127222.2(CACNA1A):c.6606C>T (p.Pro2202=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1070	Likely benign
19:13319749	NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)	rs1032588483	not provided\|Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1075	Conflicting interpretations of pathogenicity
19:13319751	NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1077	Uncertain significance
19:13319751	NM_001127222.2(CACNA1A):c.6599G>A (p.Gly2200Asp)	NA	not provided	1077	Uncertain significance
19:13319752	NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del)	rs763941704	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1078	Benign/Likely benign
19:13319754	NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln)	rs1326871701	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1080	Uncertain significance
19:13319755	NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp)	rs1477386827	not provided	1081	Uncertain significance
19:13319759	NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His)	rs2054692765	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1085	Uncertain significance
19:13319762	NM_001127222.2(CACNA1A):c.6588C>A (p.Asp2196Glu)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1088	Uncertain significance
19:13319765	NM_001127222.2(CACNA1A):c.6585G>C (p.Arg2195=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1091	Likely benign
19:13319766	NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln)	rs373192655	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1092	Benign/Likely benign
19:13319766	NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1092	Uncertain significance
19:13319767	NM_001127222.2(CACNA1A):c.6583C>T (p.Arg2195Trp)	rs1463901630	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1093	Uncertain significance
19:13319768	NM_001127222.2(CACNA1A):c.6582G>A (p.Glu2194=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1094	Likely benign
19:13319774	NM_001127222.2(CACNA1A):c.6576G>A (p.Ser2192=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1100	Likely benign
19:13319775	NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)	rs1325697290	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1101	Uncertain significance
19:13319777	NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=)	rs554430594	not specified\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1103	Likely benign
19:13319778	NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1104	Uncertain significance
19:13319785	NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1111	Uncertain significance
19:13319788	NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1114	Uncertain significance
19:13319789	NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=)	rs371116746	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	1115	Benign/Likely benign
19:13319789	NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1115	Uncertain significance
19:13319800	NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)	rs1028538547	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42	1126	Uncertain significance
19:13319801	NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile)	rs1335828021	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	1127	Uncertain significance
19:13319808	NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro)	NA	not provided	1134	Uncertain significance
19:13319810	NM_001127222.2(CACNA1A):c.6540C>T (p.Asp2180=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1136	Likely benign
19:13319818	NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1144	Uncertain significance
19:13319822	NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=)	rs2054695798	not provided	1148	Likely benign
19:13319823	NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)	rs763045560	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42	1149	Uncertain significance
19:13319828	NM_001127222.2(CACNA1A):c.6527-5C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1154	Likely benign
19:13319830	NM_001127222.2(CACNA1A):c.6527-7G>A	rs1555730686	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1156	Uncertain significance
19:13319831	NM_001127222.2(CACNA1A):c.6527-8C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1157	Likely benign
19:13319839	NM_001127222.2(CACNA1A):c.6527-16C>T	rs752985059	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1165	Likely benign
19:13319842	NM_001127222.2(CACNA1A):c.6527-19T>C	rs375949210	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1168	Benign/Likely benign
19:13319957	NM_001127222.2(CACNA1A):c.6527-134C>T	rs181255369	not provided	1283	Likely benign
19:13319989	NM_001127222.2(CACNA1A):c.6526+137A>G	NA	Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6\|not provided	1315	Benign
19:13320002	NM_001127222.2(CACNA1A):c.6526+124G>C	NA	Developmental and epileptic encephalopathy, 42\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6\|Episodic ataxia type 2\|not provided	1328	Benign
19:13320042	NM_001127222.2(CACNA1A):c.6526+84G>A	rs73509459	not provided	1368	Benign
19:13320110	NM_001127222.2(CACNA1A):c.6526+16G>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1436	Likely benign
19:13320115	NM_001127222.2(CACNA1A):c.6526+11C>G	rs767916527	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1441	Likely benign
19:13320116	NM_001127222.2(CACNA1A):c.6526+10C>A	rs1425384815	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1442	Likely benign
19:13320119	NM_001127222.2(CACNA1A):c.6526+7A>G	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1445	Likely benign
19:13320119	NM_001127222.2(CACNA1A):c.6526+7A>C	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1445	Likely benign
19:13320120	NM_001127222.2(CACNA1A):c.6526+6C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1446	Uncertain significance
19:13320137	NM_001127222.2(CACNA1A):c.6515A>G (p.Asp2172Gly)	NA	not provided	1463	Uncertain significance
19:13320138	NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr)	rs370289732	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1464	Uncertain significance
19:13320138	NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn)	rs370289732	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1464	Uncertain significance
19:13320139	NM_001127222.2(CACNA1A):c.6513C>T (p.Thr2171=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1465	Likely benign
19:13320146	NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His)	rs1417890059	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1472	Uncertain significance
19:13320146	NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu)	NA	Developmental and epileptic encephalopathy, 42	1472	Uncertain significance
19:13320147	NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)	rs375354077	History of neurodevelopmental disorder\|Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1473	Conflicting interpretations of pathogenicity
19:13320147	NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly)	rs375354077	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1473	Uncertain significance
19:13320151	NM_001127222.2(CACNA1A):c.6501G>T (p.Leu2167=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1477	Likely benign
19:13320158	NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)	rs727503832	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1484	Conflicting interpretations of pathogenicity
19:13320158	NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)	rs727503832	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1484	Conflicting interpretations of pathogenicity
19:13320159	NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys)	rs746582303	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1485	Uncertain significance
19:13320162	NM_001127222.2(CACNA1A):c.6489dup (p.Glu2164Ter)	rs1555730801	not provided	1488	Pathogenic
19:13320168	NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)	rs17846928	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1494	Conflicting interpretations of pathogenicity
19:13320169	NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)	rs745609731	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1495	Benign/Likely benign
19:13320170	NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His)	rs769503871	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1496	Uncertain significance
19:13320171	NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1497	Uncertain significance
19:13320178	NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1504	Likely benign
19:13320178	NM_001127222.2(CACNA1A):c.6474C>A (p.Arg2158=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1504	Likely benign
19:13320179	NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His)	rs375859889	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1505	Conflicting interpretations of pathogenicity
19:13320180	NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys)	rs774289573	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1506	Uncertain significance
19:13320183	NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1509	Uncertain significance
19:13320184	NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=)	rs745336852	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1510	Benign/Likely benign
19:13320185	NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)	rs755749925	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder	1511	Conflicting interpretations of pathogenicity
19:13320186	NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)	rs554393704	not provided\|Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1512	Conflicting interpretations of pathogenicity
19:13320186	NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)	rs554393704	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|EEG with focal epileptiform discharges	1512	Uncertain significance
19:13320188	NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)	rs572722130	not specified\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|History of neurodevelopmental disorder\|not provided	1514	Conflicting interpretations of pathogenicity
19:13320188	NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)	rs572722130	History of neurodevelopmental disorder\|not provided	1514	Conflicting interpretations of pathogenicity
19:13320189	NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del)	rs1469809752	not provided	1515	Uncertain significance
19:13320189	NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys)	rs766661019	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1515	Uncertain significance
19:13320191	NM_001127222.2(CACNA1A):c.6461G>T (p.Arg2154Leu)	rs754317278	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1517	Uncertain significance
19:13320192	NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp)	rs1374160355	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	1518	Uncertain significance
19:13320194	NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg)	rs1242460645	not provided	1520	Uncertain significance
19:13320196	NM_001127222.2(CACNA1A):c.6456C>A (p.His2152Gln)	rs759949928	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1522	Uncertain significance
19:13320201	NM_001127222.2(CACNA1A):c.6451C>T (p.His2151Tyr)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1527	Uncertain significance
19:13320203	NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln)	rs751044309	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1529	Uncertain significance
19:13320204	NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)	rs756780624	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	1530	Uncertain significance
19:13320204	NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1530	Uncertain significance
19:13320208	NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1534	Uncertain significance
19:13320216	NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys)	rs371984902	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1542	Uncertain significance
19:13320217	NM_001127222.2(CACNA1A):c.6435C>T (p.Pro2145=)	rs1456597171	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1543	Likely benign
19:13320221	NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)	rs750077868	not specified\|Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1547	Uncertain significance
19:13320227	NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln)	rs1268148205	not provided	1553	Uncertain significance
19:13320235	NM_001127222.2(CACNA1A):c.6417G>A (p.Ser2139=)	rs1174598861	not provided	1561	Likely benign
19:13320243	NM_001127222.2(CACNA1A):c.6408_6409insTAGCCTG (p.Asp2137Ter)	rs2054719760	not provided	1569	Likely pathogenic
19:13320243	NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn)	NA	not provided	1569	Uncertain significance
19:13320244	NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=)	rs779701046	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1570	Likely benign
19:13320246	NM_001127222.2(CACNA1A):c.6406G>C (p.Asp2136His)	NA	not provided	1572	Uncertain significance
19:13320249	NM_001127222.2(CACNA1A):c.6397_6403del (p.Arg2133fs)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1575	Pathogenic
19:13320251	NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His)	rs749172043	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1577	Uncertain significance
19:13320252	NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)	rs121908235	Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided\|Cerebellar ataxia\|not specified\|Spinocerebellar ataxia type 6	1578	Uncertain significance
19:13320252	NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)	rs121908235	Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided\|Cerebellar ataxia\|not specified\|Spinocerebellar ataxia type 6	1578	Uncertain significance
19:13320254	NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)	rs779044548	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1580	Uncertain significance
19:13320254	NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)	rs779044548	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1580	Uncertain significance
19:13320255	NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)	rs1555730878	not provided\|Developmental and epileptic encephalopathy, 42	1581	Pathogenic/Likely pathogenic
19:13320267	NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg)	rs1369133711	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1593	Uncertain significance
19:13320273	NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met)	rs368183370	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder	1599	Uncertain significance
19:13320274	NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)	rs16050	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	1600	Benign
19:13320274	NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)	rs16050	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	1600	Benign
19:13320280	NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)	rs760994682	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1606	Conflicting interpretations of pathogenicity
19:13320281	NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1607	Pathogenic
19:13320284	NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs)	rs1555730902	Inborn genetic diseases	1610	Pathogenic
19:13320284	NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1610	Uncertain significance
19:13320284	NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His)	NA	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1610	Uncertain significance
19:13320285	NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys)	rs1255940553	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1611	Uncertain significance
19:13320286	NM_001127222.2(CACNA1A):c.6366G>A (p.Lys2122=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1612	Likely benign
19:13320287	NM_001127222.2(CACNA1A):c.6365A>G (p.Lys2122Arg)	NA	not provided	1613	Uncertain significance
19:13320291	NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu)	rs1317004203	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1617	Uncertain significance
19:13320292	NM_001127222.2(CACNA1A):c.6360C>T (p.Pro2120=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1618	Likely benign
19:13320294	NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)	rs2054721635	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2	1620	Conflicting interpretations of pathogenicity
19:13320295	NM_001127222.2(CACNA1A):c.6357C>T (p.Ser2119=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1621	Likely benign
19:13320306	NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala)	rs576057388	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1632	Uncertain significance
19:13320306	NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1632	Uncertain significance
19:13320310	NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)	rs16049	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	1636	Benign
19:13320310	NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)	rs16049	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	1636	Benign
19:13320312	NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser)	rs2054722290	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1638	Uncertain significance
19:13320317	NM_001127222.2(CACNA1A):c.6340-5C>G	rs991192417	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1643	Uncertain significance
19:13320319	NM_001127222.2(CACNA1A):c.6340-7C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1645	Likely benign
19:13320319	NM_001127222.2(CACNA1A):c.6340-7C>A	NA	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1645	Conflicting interpretations of pathogenicity
19:13320321	NM_001127222.2(CACNA1A):c.6340-9C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	1647	Likely benign
19:13320331	NM_001127222.2(CACNA1A):c.6340-19G>A	rs916904971	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	1657	Likely benign
19:13320504	NM_001127222.2(CACNA1A):c.6340-192G>A	rs79459566	not provided	1830	Benign
19:13321117	NM_001127222.2(CACNA1A):c.6339+314T>C	NA	not provided	2443	Benign
19:13321122	NM_001127222.2(CACNA1A):c.6339+309T>G	rs7253618	not provided	2448	Benign
19:13321419	NM_001127222.2(CACNA1A):c.6339+12G>A	rs371246823	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2745	Likely benign
19:13321420	NM_001127222.2(CACNA1A):c.6339+11C>T	rs190260468	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2746	Likely benign
19:13321421	NM_001127222.2(CACNA1A):c.6339+10G>C	rs376238265	not specified\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2747	Benign/Likely benign
19:13321421	NM_001127222.2(CACNA1A):c.6339+10G>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2747	Likely benign
19:13321422	NM_001127222.2(CACNA1A):c.6339+9C>T	rs369361580	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2748	Likely benign
19:13321426	NM_001127222.2(CACNA1A):c.6339+5G>C	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2752	Uncertain significance
19:13321427	NM_001127222.2(CACNA1A):c.6339+4T>C	rs2054775532	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	2753	Uncertain significance
19:13321439	NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp)	rs1162464868	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	2765	Conflicting interpretations of pathogenicity
19:13321444	NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu)	NA	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2770	Uncertain significance
19:13321447	NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His)	NA	not provided	2773	Uncertain significance
19:13321448	NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser)	rs758498629	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	2774	Uncertain significance
19:13321449	NM_001127222.2(CACNA1A):c.6321A>C (p.Pro2107=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	2775	Likely benign
19:13321453	NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu)	rs373229577	not provided	2779	Uncertain significance
19:13321453	NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)	rs373229577	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	2779	Uncertain significance
19:13321454	NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)	rs771030765	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	2780	Uncertain significance
19:13321457	NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser)	rs1376625416	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	2783	Uncertain significance
19:13321462	NM_001127221.1(CACNA1A):c.6309_6311delGAG	NA	not provided	2788	Uncertain significance
19:13321464	NM_001127222.2(CACNA1A):c.6306G>A (p.Arg2102=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	2790	Likely benign
19:13321465	NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys)	rs866974416	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2791	Uncertain significance
19:13321469	NM_001127222.2(CACNA1A):c.6304-3C>T	NA	See cases	2795	Uncertain significance
19:13321475	NM_001127222.2(CACNA1A):c.6304-9C>G	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	2801	Likely benign
19:13321480	NM_001127222.2(CACNA1A):c.6304-14T>C	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2806	Likely benign
19:13321484	NM_001127222.2(CACNA1A):c.6304-18C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	2810	Likely benign
19:13322628	NM_001127222.2(CACNA1A):c.6303+289G>A	NA	not provided	3954	Likely benign
19:13322823	NM_001127222.2(CACNA1A):c.6303+94del	NA	Spinocerebellar ataxia type 6\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Migraine, familial hemiplegic, 1\|not provided	4149	Benign
19:13322848	NM_001127222.2(CACNA1A):c.6303+69A>C	rs60185051	not provided	4174	Benign
19:13322867	NM_001127222.2(CACNA1A):c.6303+50G>A	NA	not provided	4193	Likely benign
19:13322879	NM_001127222.2(CACNA1A):c.6303+38C>T	NA	not provided	4205	Benign
19:13322903	NM_001127222.2(CACNA1A):c.6303+14C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4229	Likely benign
19:13322916	NM_001127222.2(CACNA1A):c.6303+1G>A	rs1600088360	Episodic ataxia type 2	4242	Likely pathogenic
19:13322925	NM_001127222.2(CACNA1A):c.6295G>A (p.Glu2099Lys)	rs757385012	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4251	Uncertain significance
19:13322928	NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4254	Uncertain significance
19:13322939	NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)	rs769128653	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	4265	Uncertain significance
19:13322945	NM_001127222.2(CACNA1A):c.6275C>A (p.Ser2092Tyr)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4271	Uncertain significance
19:13322948	NM_001127222.2(CACNA1A):c.6272C>T (p.Ala2091Val)	NA	not provided	4274	Uncertain significance
19:13322954	NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)	rs1033214914	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4280	Uncertain significance
19:13322955	NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=)	rs200093958	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	4281	Benign/Likely benign
19:13322957	NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala)	rs759252101	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4283	Uncertain significance
19:13322958	NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser)	rs1259126760	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4284	Uncertain significance
19:13322963	NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)	rs765051582	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4289	Conflicting interpretations of pathogenicity
19:13322970	NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val)	rs1451713531	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4296	Uncertain significance
19:13322973	NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	4299	Uncertain significance
19:13322979	NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His)	rs1174830824	History of neurodevelopmental disorder	4305	Uncertain significance
19:13322980	NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln)	rs2054835310	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4306	Uncertain significance
19:13322985	NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)	rs752513542	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4311	Uncertain significance
19:13322986	NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=)	rs758320697	not specified\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4312	Conflicting interpretations of pathogenicity
19:13322989	NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)	rs751515136	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|See cases	4315	Uncertain significance
19:13322990	NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4316	Uncertain significance
19:13322991	NM_001127222.2(CACNA1A):c.6229G>A (p.Asp2077Asn)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4317	Uncertain significance
19:13322992	NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=)	NA	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4318	Likely benign
19:13323000	NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser)	rs376910068	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	4326	Uncertain significance
19:13323003	NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn)	rs1057524336	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4329	Uncertain significance
19:13323006	NM_001127222.2(CACNA1A):c.6214A>G (p.Arg2072Gly)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4332	Uncertain significance
19:13323009	NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser)	rs370514102	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4335	Uncertain significance
19:13323010	NM_001127222.2(CACNA1A):c.6210G>A (p.Met2070Ile)	rs1555731738	not specified	4336	Uncertain significance
19:13323011	NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr)	NA	Developmental and epileptic encephalopathy, 42	4337	Uncertain significance
19:13323015	NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys)	NA	not provided	4341	not provided
19:13323017	NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)	rs769040794	not provided\|Inborn genetic diseases\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4343	Conflicting interpretations of pathogenicity
19:13323018	NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter)	rs779221807	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	4344	Pathogenic
19:13323018	NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4344	Uncertain significance
19:13323022	NM_001127222.2(CACNA1A):c.6198G>A (p.Glu2066=)	rs1600088725	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4348	Likely benign
19:13323027	NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)	rs776203885	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	4353	Uncertain significance
19:13323028	NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not specified	4354	Likely benign
19:13323032	NM_001127222.2(CACNA1A):c.6190-2A>C	rs1064796709	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4358	Likely pathogenic
19:13323033	NM_001127222.2(CACNA1A):c.6190-3C>A	rs368480650	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4359	Conflicting interpretations of pathogenicity
19:13323034	NM_001127222.2(CACNA1A):c.6190-4G>A	rs769551839	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	4360	Likely benign
19:13323035	NM_001127222.2(CACNA1A):c.6190-5C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4361	Likely benign
19:13323038	NM_001127222.2(CACNA1A):c.6190-8C>G	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4364	Uncertain significance
19:13323043	NM_001127222.2(CACNA1A):c.6190-13A>G	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4369	Likely benign
19:13323048	NM_001127222.2(CACNA1A):c.6190-18T>C	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4374	Likely benign
19:13323124	NM_001127222.2(CACNA1A):c.6189+74A>C	NA	not provided\|Developmental and epileptic encephalopathy, 42\|Migraine, familial hemiplegic, 1\|Episodic ataxia type 2\|Spinocerebellar ataxia type 6	4450	Benign
19:13323157	NM_001127222.2(CACNA1A):c.6189+41G>A	rs7246682	not provided	4483	Likely benign
19:13323163	NM_001127222.2(CACNA1A):c.6189+35G>A	NA	not provided	4489	Benign
19:13323170	NM_001127222.2(CACNA1A):c.6189+28G>C	NA	not provided	4496	Likely benign
19:13323189	NM_001127222.2(CACNA1A):c.6189+9G>T	rs568861195	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4515	Likely benign
19:13323190	NM_001127222.2(CACNA1A):c.6189+8T>C	rs1600089260	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4516	Likely benign
19:13323194	NM_001127222.2(CACNA1A):c.6189+4C>A	rs2054846468	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not specified	4520	Uncertain significance
19:13323197	NM_001127222.2(CACNA1A):c.6189+1G>A	NA	not provided	4523	Likely pathogenic
19:13323203	NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)	NA	Developmental and epileptic encephalopathy, 42	4529	Pathogenic
19:13323206	NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4532	Uncertain significance
19:13323207	NM_001127222.2(CACNA1A):c.6180T>C (p.Pro2060=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4533	Likely benign
19:13323214	NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr)	rs1600089299	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4540	Uncertain significance
19:13323224	NM_001127222.2(CACNA1A):c.6147_6163del (p.Gln2049fs)	NA	not provided	4550	Pathogenic
19:13323225	NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)	rs774164327	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4551	Uncertain significance
19:13323227	NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn)	rs761560224	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4553	Conflicting interpretations of pathogenicity
19:13323228	NM_001127222.2(CACNA1A):c.6159C>T (p.Thr2053=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4554	Likely benign
19:13323228	NM_001127222.2(CACNA1A):c.6159C>A (p.Thr2053=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4554	Likely benign
19:13323231	NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs)	rs1158454977	not provided	4557	Pathogenic
19:13323232	NM_001127222.2(CACNA1A):c.6155del (p.Pro2052fs)	NA	not provided	4558	Likely pathogenic
19:13323238	NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val)	rs2054848687	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4564	Uncertain significance
19:13323245	NM_001127222.2(CACNA1A):c.6142G>A (p.Glu2048Lys)	rs1568423655	History of neurodevelopmental disorder	4571	Uncertain significance
19:13323246	NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)	rs760682283	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4572	Conflicting interpretations of pathogenicity
19:13323247	NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu)	rs539347883	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4573	Uncertain significance
19:13323255	NM_001127222.2(CACNA1A):c.6132A>G (p.Thr2044=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4581	Likely benign
19:13323257	NM_001127222.2(CACNA1A):c.6130A>G (p.Thr2044Ala)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4583	Uncertain significance
19:13323259	NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4585	Uncertain significance
19:13323261	NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=)	rs7249722	not specified\|not provided\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4587	Benign
19:13323262	NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)	rs563345694	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6\|not provided\|12 conditions	4588	Conflicting interpretations of pathogenicity
19:13323273	NM_001127222.2(CACNA1A):c.6114del (p.Met2038fs)	rs1064796199	not provided	4599	Pathogenic
19:13323282	NM_001127222.2(CACNA1A):c.6105C>T (p.Ala2035=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4608	Likely benign
19:13323286	NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)	rs369555957	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4612	Uncertain significance
19:13323290	NM_001127222.2(CACNA1A):c.6097C>T (p.Gln2033Ter)	NA	not provided	4616	Pathogenic
19:13323291	NM_001127222.2(CACNA1A):c.6096C>A (p.Thr2032=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4617	Likely benign
19:13323303	NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=)	rs374954726	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	4629	Likely benign
19:13323304	NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg)	rs370345937	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	4630	Uncertain significance
19:13323304	NM_001127222.2(CACNA1A):c.6083C>T (p.Pro2028Leu)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4630	Uncertain significance
19:13323306	NM_001127222.2(CACNA1A):c.6081C>A (p.Ser2027Arg)	NA	not provided	4632	Uncertain significance
19:13323308	NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly)	rs2054851950	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4634	Uncertain significance
19:13323310	NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)	rs771768635	not provided\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4636	Conflicting interpretations of pathogenicity
19:13323314	NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4640	Uncertain significance
19:13323318	NM_001127222.2(CACNA1A):c.6069C>T (p.Gly2023=)	rs773076084	not specified	4644	Likely benign
19:13323320	NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser)	rs574805525	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4646	Likely benign
19:13323320	NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys)	rs574805525	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4646	Uncertain significance
19:13323321	NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)	rs886043571	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4647	Conflicting interpretations of pathogenicity
19:13323322	NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn)	NA	not provided	4648	Uncertain significance
19:13323326	NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)	rs202002033	History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	4652	Benign/Likely benign
19:13323327	NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=)	rs1282402038	not provided	4653	Likely benign
19:13323329	NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4655	Uncertain significance
19:13323332	NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser)	rs1393616835	not provided	4658	Uncertain significance
19:13323337	NM_001127222.2(CACNA1A):c.6051-1G>A	NA	not provided	4663	Likely pathogenic
19:13323339	NM_001127222.2(CACNA1A):c.6051-3C>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4665	Uncertain significance
19:13323340	NM_001127222.2(CACNA1A):c.6051-4G>A	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4666	Likely benign
19:13323343	NM_001127222.2(CACNA1A):c.6051-7C>G	NA	not provided	4669	Uncertain significance
19:13323345	NM_001127222.2(CACNA1A):c.6051-9C>G	NA	not provided	4671	Uncertain significance
19:13323347	NM_001127222.2(CACNA1A):c.6051-11C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4673	Likely benign
19:13323347	NM_001127222.2(CACNA1A):c.6051-11C>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4673	Likely benign
19:13323349	NM_001127222.2(CACNA1A):c.6051-13del	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4675	Likely benign
19:13323352	NM_001127222.2(CACNA1A):c.6051-16del	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4678	Likely benign
19:13323354	NM_001127222.2(CACNA1A):c.6051-18C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4680	Likely benign
19:13323356	NM_001127222.2(CACNA1A):c.6051-20G>A	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4682	Uncertain significance
19:13323422	NM_001127222.2(CACNA1A):c.6050+23A>C	NA	not provided	4748	Likely benign
19:13323430	NM_001127222.2(CACNA1A):c.6050+15T>C	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4756	Likely benign
19:13323431	NM_001127222.2(CACNA1A):c.6050+14del	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4757	Benign
19:13323436	NM_001127222.2(CACNA1A):c.6050+9C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4762	Likely benign
19:13323438	NM_001127222.2(CACNA1A):c.6050+4_6050+7del	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4764	Pathogenic
19:13323445	NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro)	rs774375692	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4771	Uncertain significance
19:13323451	NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)	rs772988279	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4777	Uncertain significance
19:13323452	NM_001127222.2(CACNA1A):c.6043G>T (p.Gly2015Ter)	rs746848153	not provided	4778	Likely pathogenic
19:13323460	NM_001127222.2(CACNA1A):c.6035A>G (p.Asp2012Gly)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4786	Uncertain significance
19:13323467	NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter)	rs1355062450	not provided	4793	Pathogenic
19:13323469	NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn)	rs776574979	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4795	Uncertain significance
19:13323478	NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg)	rs759624463	not provided	4804	Uncertain significance
19:13323480	NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)	rs369675855	not specified\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4806	Conflicting interpretations of pathogenicity
19:13323482	NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)	rs374063403	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	4808	Conflicting interpretations of pathogenicity
19:13323483	NM_001127222.2(CACNA1A):c.6012C>T (p.Asn2004=)	rs764448299	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4809	Likely benign
19:13323490	NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp)	rs1402384624	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4816	Uncertain significance
19:13323490	NM_001127222.2(CACNA1A):c.6005G>C (p.Gly2002Ala)	NA	not provided	4816	Uncertain significance
19:13323491	NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser)	rs1568424111	Developmental and epileptic encephalopathy, 42	4817	Uncertain significance
19:13323494	NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)	rs751947412	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Spinocerebellar ataxia type 6	4820	Conflicting interpretations of pathogenicity
19:13323496	NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4822	Uncertain significance
19:13323498	NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup)	rs2054858852	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4824	Uncertain significance
19:13323501	NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=)	rs16045	History of neurodevelopmental disorder\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4827	Benign
19:13323501	NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4827	Uncertain significance
19:13323507	NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=)	rs17846933	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4833	Benign/Likely benign
19:13323508	NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)	rs778274864	not provided\|not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4834	Conflicting interpretations of pathogenicity
19:13323509	NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)	rs141963371	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	4835	Conflicting interpretations of pathogenicity
19:13323511	NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu)	rs1568424203	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4837	Uncertain significance
19:13323516	NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4842	Likely benign
19:13323524	NM_001127222.2(CACNA1A):c.5971G>C (p.Glu1991Gln)	NA	not provided	4850	Uncertain significance
19:13323528	NM_001127222.2(CACNA1A):c.5967C>G (p.Arg1989=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4854	Likely benign
19:13323529	NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	4855	Uncertain significance
19:13323538	NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4864	Uncertain significance
19:13323540	NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=)	NA	not provided	4866	Likely benign
19:13323543	NM_001127222.2(CACNA1A):c.5952C>A (p.Pro1984=)	rs1600090248	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4869	Likely benign
19:13323547	NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	4873	Uncertain significance
19:13323550	NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)	rs745775887	not specified\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1	4876	Uncertain significance
19:13323556	NM_001127222.2(CACNA1A):c.5941-2A>G	rs1555731992	Inborn genetic diseases	4882	Likely pathogenic
19:13323592	NM_001127222.2(CACNA1A):c.5941-38A>C	NA	not provided	4918	Benign
19:13323606	NM_001127222.2(CACNA1A):c.5941-52C>T	rs72995963	not provided	4932	Benign
19:13323639	NM_001127222.2(CACNA1A):c.5941-86_5941-85del	NA	not provided	4965	Likely benign
19:13323641	NM_001127222.2(CACNA1A):c.5941-109GT[14]	NA	not provided	4967	Benign
19:13323641	NM_001127222.2(CACNA1A):c.5941-109GT[16]	NA	not provided	4967	Likely benign
19:13323641	NM_001127222.2(CACNA1A):c.5941-109GT[13]	NA	not provided	4967	Likely benign
19:13323641	NM_001127222.2(CACNA1A):c.5941-109GT[15]	NA	not provided	4967	Benign
19:13323641	NM_001127222.2(CACNA1A):c.5941-109GT[12]	NA	not provided	4967	Benign
19:13323642	NM_001127222.2(CACNA1A):c.5941-109GT[10]	NA	not provided	4968	Benign
19:13323759	NM_001127222.2(CACNA1A):c.5941-205T>C	NA	Episodic ataxia type 2\|Spinocerebellar ataxia type 6\|Developmental and epileptic encephalopathy, 42\|Migraine, familial hemiplegic, 1\|not provided	5085	Benign
19:13324818	NM_001127222.2(CACNA1A):c.5940+229C>T	rs892018	not provided	6144	Benign
19:13324862	NM_001127222.2(CACNA1A):c.5940+185G>A	rs892017	not provided	6188	Benign
19:13325029	NM_001127222.2(CACNA1A):c.5940+18C>G	rs1057522421	not specified\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6355	Conflicting interpretations of pathogenicity
19:13325032	NM_001127222.2(CACNA1A):c.5940+15G>A	rs370364972	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6358	Likely benign
19:13325032	NM_001127222.2(CACNA1A):c.5940+15G>C	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6358	Likely benign
19:13325033	NM_001127222.2(CACNA1A):c.5940+14C>A	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6359	Benign
19:13325035	NM_001127222.2(CACNA1A):c.5940+12G>A	rs780841537	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6361	Likely benign
19:13325041	NM_001127222.2(CACNA1A):c.5940+6C>T	rs909499550	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6367	Uncertain significance
19:13325042	NM_001127222.2(CACNA1A):c.5940+5G>A	rs780060495	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	6368	Uncertain significance
19:13325043	NM_001127222.2(CACNA1A):c.5940+4C>T	rs749339070	not provided	6369	Uncertain significance
19:13325046	NM_001127222.2(CACNA1A):c.5940+1G>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6372	Likely pathogenic
19:13325048	NM_001127222.2(CACNA1A):c.5939A>C (p.Gln1980Pro)	NA	Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6	6374	not provided
19:13325050	NM_001127222.2(CACNA1A):c.5937G>A (p.Glu1979=)	rs768860392	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6376	Likely benign
19:13325055	NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)	rs1266642291	History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Intellectual disability	6381	Uncertain significance
19:13325056	NM_001127222.2(CACNA1A):c.5931C>T (p.Arg1977=)	rs377136737	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6382	Uncertain significance
19:13325057	NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His)	rs1057521547	not provided\|Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6383	Uncertain significance
19:13325065	NM_001127222.2(CACNA1A):c.5922G>A (p.Gln1974=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6391	Likely benign
19:13325066	NM_001127222.2(CACNA1A):c.5921A>C (p.Gln1974Pro)	rs1600093389	CACNA1A-Related Disorder	6392	not provided
19:13325074	NM_001127222.2(CACNA1A):c.5913G>A (p.Lys1971=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6400	Likely benign
19:13325080	NM_001127222.2(CACNA1A):c.5907G>A (p.Lys1969=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6406	Likely benign
19:13325083	NM_001127222.2(CACNA1A):c.5904C>T (p.Ser1968=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6409	Uncertain significance
19:13325089	NM_001127222.2(CACNA1A):c.5898G>A (p.Arg1966=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6415	Likely benign
19:13325090	NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)	rs199886234	not specified\|not provided\|History of neurodevelopmental disorder\|Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6416	Conflicting interpretations of pathogenicity
19:13325090	NM_001127222.2(CACNA1A):c.5897G>T (p.Arg1966Leu)	NA	not provided	6416	Uncertain significance
19:13325091	NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6417	Uncertain significance
19:13325096	NM_001127222.2(CACNA1A):c.5891A>G (p.Tyr1964Cys)	rs1555732391	Inborn genetic diseases	6422	Uncertain significance
19:13325107	NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)	rs1085307557	not provided	6433	Uncertain significance
19:13325111	NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6437	Uncertain significance
19:13325113	NM_001127222.2(CACNA1A):c.5874C>T (p.Ala1958=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6439	Likely benign
19:13325116	NM_001127222.2(CACNA1A):c.5871A>G (p.Ala1957=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6442	Likely benign
19:13325118	NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6444	Uncertain significance
19:13325119	NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)	rs371972266	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6445	Conflicting interpretations of pathogenicity
19:13325127	NM_001127222.2(CACNA1A):c.5859dup (p.Lys1954fs)	NA	not provided	6453	Pathogenic
19:13325128	NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=)	rs200625174	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not specified	6454	Benign
19:13325130	NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6456	Uncertain significance
19:13325133	NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met)	rs749251058	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	6459	Uncertain significance
19:13325134	NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=)	rs534218994	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6460	Likely benign
19:13325143	NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)	rs368203745	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6469	Conflicting interpretations of pathogenicity
19:13325144	NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met)	rs748279762	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6470	Uncertain significance
19:13325149	NM_001127222.2(CACNA1A):c.5840-2A>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6475	Likely pathogenic
19:13325149	NM_001127222.2(CACNA1A):c.5840-2A>G	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6475	Likely pathogenic
19:13325154	NM_001127222.2(CACNA1A):c.5840-7C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided\|not specified	6480	Likely benign
19:13325154	NM_001127222.2(CACNA1A):c.5840-15TG[5]	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6480	Benign
19:13325155	NM_001127222.2(CACNA1A):c.5840-8G>A	rs2054921364	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6481	Uncertain significance
19:13325161	NM_001127222.2(CACNA1A):c.5840-14G>A	rs184658006	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6487	Benign/Likely benign
19:13325161	NM_001127222.2(CACNA1A):c.5840-15dup	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6487	Likely benign
19:13325163	NM_001127222.2(CACNA1A):c.5840-16G>A	rs771333825	not specified	6489	Likely benign
19:13325164	NM_001127222.2(CACNA1A):c.5840-17C>T	rs556502230	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6490	Likely benign
19:13325164	NM_001127222.2(CACNA1A):c.5840-17C>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6490	Likely benign
19:13325229	NM_001127222.2(CACNA1A):c.5840-82C>G	rs17846925	not provided	6555	Benign
19:13325295	NM_001127222.2(CACNA1A):c.5839+20C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6621	Likely benign
19:13325300	NM_001127222.2(CACNA1A):c.5839+15C>T	rs756095565	not specified\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6626	Likely benign
19:13325305	NM_001127222.2(CACNA1A):c.5839+10G>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	6631	Conflicting interpretations of pathogenicity
19:13325308	NM_001127222.2(CACNA1A):c.5839+7G>A	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6634	Likely benign
19:13325309	NM_001127222.2(CACNA1A):c.5839+6A>C	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6635	Uncertain significance
19:13325314	NM_001127222.2(CACNA1A):c.5839+1G>T	rs951196653	not provided	6640	Likely pathogenic
19:13325314	NM_001127222.2(CACNA1A):c.5839+1G>C	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6640	Likely pathogenic
19:13325327	NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala)	NA	not provided	6653	Uncertain significance
19:13325333	NM_001127222.2(CACNA1A):c.5821C>T (p.Leu1941=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6659	Likely benign
19:13325340	NM_001127222.2(CACNA1A):c.5814A>T (p.Leu1938=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6666	Likely benign
19:13325343	NM_001127222.2(CACNA1A):c.5811G>A (p.Thr1937=)	rs747273411	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6669	Likely benign
19:13325344	NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)	rs771104002	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Developmental and epileptic encephalopathy, 42	6670	Uncertain significance
19:13325351	NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys)	NA	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6677	Uncertain significance
19:13325353	NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys)	rs375365071	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6679	Uncertain significance
19:13325359	NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser)	rs1205866071	History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6685	Uncertain significance
19:13325370	NM_001127222.2(CACNA1A):c.5784G>A (p.Ala1928=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6696	Likely benign
19:13325375	NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6701	Uncertain significance
19:13325376	NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6702	Uncertain significance
19:13325379	NM_001127222.2(CACNA1A):c.5775G>A (p.Glu1925=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6705	Likely benign
19:13325383	NM_001127222.2(CACNA1A):c.5771A>C (p.Lys1924Thr)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6709	Uncertain significance
19:13325386	NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)	rs771636070	not provided	6712	Uncertain significance
19:13325393	NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys)	NA	not provided	6719	Uncertain significance
19:13325394	NM_001127222.2(CACNA1A):c.5760T>C (p.Ala1920=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6720	Likely benign
19:13325396	NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr)	rs766012999	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6722	Uncertain significance
19:13325397	NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=)	rs368042511	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	6723	Benign
19:13325399	NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn)	rs1064794441	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6725	Uncertain significance
19:13325414	NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)	rs371957992	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6740	Uncertain significance
19:13325415	NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=)	rs16044	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Migraine, familial hemiplegic, 1\|History of neurodevelopmental disorder	6741	Benign
19:13325415	NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=)	rs16044	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Migraine, familial hemiplegic, 1\|History of neurodevelopmental disorder	6741	Benign
19:13325419	NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu)	rs2054931821	Developmental and epileptic encephalopathy, 42	6745	Uncertain significance
19:13325420	NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg)	rs966699696	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6746	Uncertain significance
19:13325421	NM_001127222.2(CACNA1A):c.5733A>G (p.Gly1911=)	rs758357771	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	6747	Likely benign
19:13325428	NM_001127222.2(CACNA1A):c.5732-6T>C	rs16043	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6754	Benign
19:13325430	NM_001127222.2(CACNA1A):c.5732-8C>T	rs1057521521	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	6756	Likely benign
19:13325442	NM_001127222.2(CACNA1A):c.5732-20T>C	rs1425639727	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	6768	Likely benign
19:13325461	NM_001127222.2(CACNA1A):c.5732-39del	rs559922012	not provided	6787	Likely benign
19:13325497	NM_001127222.2(CACNA1A):c.5732-75A>G	rs80216489	not provided	6823	Likely benign
19:13325565	NM_001127222.2(CACNA1A):c.5732-143G>C	NA	not provided	6891	Likely benign
19:13325619	NM_001127222.2(CACNA1A):c.5732-197G>A	rs138057423	not provided	6945	Likely benign
19:13325733	NM_001127222.2(CACNA1A):c.5732-311G>A	rs4926143	not provided	7059	Benign
19:13332911	NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)	rs121908245	Episodic ataxia type 2\|not provided	14237	Uncertain significance
19:13334394	NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)	rs2248069	not specified\|History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6	15720	Benign
19:13334411	NM_001127222.2(CACNA1A):c.1165C>T (p.Leu389Phe)	rs121908239	Episodic ataxia type 2	15737	not provided
19:13335138	NM_001127222.2(CACNA1A):c.5731+330dup	NA	not provided	16464	Benign
19:13335139	NM_001127222.2(CACNA1A):c.5731+342del	NA	not provided	16465	Likely benign
19:13335300	NM_001127222.2(CACNA1A):c.5731+162dup	NA	not provided	16626	Likely benign
19:13335301	NM_001127222.2(CACNA1A):c.5731+178_5731+180del	NA	not provided	16627	Benign
19:13335322	NM_001127222.2(CACNA1A):c.5731+159G>T	rs377481166	not provided	16648	Likely benign
19:13335432	NM_001127222.2(CACNA1A):c.5731+49C>T	rs3816027	not provided\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6	16758	Benign
19:13335461	NM_001127222.2(CACNA1A):c.5731+20G>A	rs774752183	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16787	Likely benign
19:13335462	NM_001127222.2(CACNA1A):c.5731+19C>T	rs1259224644	not specified\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	16788	Conflicting interpretations of pathogenicity
19:13335466	NM_001127222.2(CACNA1A):c.5731+14_5731+15del	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16792	Likely benign
19:13335467	NM_001127222.2(CACNA1A):c.5731+14del	rs762645821	not specified\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	16793	Benign/Likely benign
19:13335467	NM_001127222.2(CACNA1A):c.5731+14A>G	rs762304728	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16793	Likely benign
19:13335481	NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16807	Uncertain significance
19:13335492	NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg)	NA	Developmental and epileptic encephalopathy, 42	16818	Uncertain significance
19:13335506	NM_001127222.2(CACNA1A):c.5706A>G (p.Thr1902=)	rs1434572084	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	16832	Likely benign
19:13335509	NM_001127222.2(CACNA1A):c.5703C>A (p.Arg1901=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16835	Likely benign
19:13335510	NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)	NA	not provided	16836	Uncertain significance
19:13335517	NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val)	rs2055369392	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16843	Uncertain significance
19:13335522	NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg)	NA	Developmental and epileptic encephalopathy, 42	16848	Uncertain significance
19:13335527	NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)	rs757291476	History of neurodevelopmental disorder\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16853	Conflicting interpretations of pathogenicity
19:13335527	NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)	rs757291476	History of neurodevelopmental disorder\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16853	Conflicting interpretations of pathogenicity
19:13335542	NM_001127222.2(CACNA1A):c.5670C>T (p.Val1890=)	rs1044642598	not specified	16868	Likely benign
19:13335545	NM_001127222.2(CACNA1A):c.5667C>T (p.Thr1889=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	16871	Likely benign
19:13335549	NM_001127222.2(CACNA1A):c.5663A>G (p.Asn1888Ser)	rs756378742	not provided	16875	Uncertain significance
19:13335553	NM_001127222.2(CACNA1A):c.5659G>T (p.Asp1887Tyr)	NA	not provided	16879	Uncertain significance
19:13335560	NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)	rs17846921	not provided\|History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	16886	Conflicting interpretations of pathogenicity
19:13335561	NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp)	NA	Spinocerebellar ataxia type 6	16887	Uncertain significance
19:13335562	NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)	rs201836062	History of neurodevelopmental disorder\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not specified	16888	Conflicting interpretations of pathogenicity
19:13335563	NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=)	rs61741139	History of neurodevelopmental disorder\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	16889	Benign/Likely benign
19:13335575	NM_001127222.2(CACNA1A):c.5637del (p.Met1880fs)	rs1600114562	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16901	Pathogenic
19:13335576	NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	16902	Uncertain significance
19:13335577	NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16903	Uncertain significance
19:13335589	NM_001127222.2(CACNA1A):c.5626-3T>C	rs2055372579	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	16915	Uncertain significance
19:13335592	NM_001127222.2(CACNA1A):c.5626-6C>G	rs769606952	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	16918	Uncertain significance
19:13335597	NM_001127222.2(CACNA1A):c.5626-11G>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	16923	Likely benign
19:13335642	NM_001127222.2(CACNA1A):c.5626-56G>A	rs149917710	not provided	16968	Likely benign
19:13335766	NM_001127222.2(CACNA1A):c.5626-180C>T	NA	not provided	17092	Likely benign
19:13335850	NM_001127222.2(CACNA1A):c.1038C>T (p.Ile346=)	rs527246699	not provided	17176	Uncertain significance
19:13335910	NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup	NA	Episodic ataxia type 2	17236	Pathogenic
19:13335910	NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del	NA	Episodic ataxia type 2	17236	Pathogenic
19:13337966	NM_001127222.2(CACNA1A):c.5625+279C>T	rs3786935	not provided	19292	Benign
19:13338173	NM_001127222.2(CACNA1A):c.5625+63dup	NA	not provided	19499	Benign
19:13338174	NM_001127222.2(CACNA1A):c.5625+69_5625+71del	NA	not provided	19500	Likely benign
19:13338180	NM_001127222.2(CACNA1A):c.5625+65T>C	NA	not provided	19506	Likely benign
19:13338181	NM_001127222.2(CACNA1A):c.5625+50CTT[4]	NA	Migraine, familial hemiplegic, 1\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Spinocerebellar ataxia type 6\|not provided	19507	Benign
19:13338225	NC_000019.9:g.(?_13338225)_(13342694_?)del	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	19551	Pathogenic
19:13338290	NM_001127222.2(CACNA1A):c.5580G>A (p.Pro1860=)	rs144137960	not provided	19616	Likely benign
19:13338340	NM_001127222.2(CACNA1A):c.5530G>A (p.Gly1844Ser)	rs1568439088	not provided	19666	Uncertain significance
19:13339226	NM_001127222.2(CACNA1A):c.5529-885A>G	NA	not provided	20552	Likely benign
19:13339309	NM_001127222.2(CACNA1A):c.5529-969_5529-968del	rs148014508	not provided	20635	Benign
19:13339405	NM_001127222.2(CACNA1A):c.5529-1078CT[8]	NA	not provided	20731	Likely benign
19:13339406	NM_001127222.2(CACNA1A):c.5529-1078CT[6]	NA	not provided	20732	Benign
19:13339417	NM_001127222.2(CACNA1A):c.5529-1076C>A	NA	not provided	20743	Benign
19:13339418	NM_001127222.2(CACNA1A):c.5529-1080_5529-1077del	NA	not provided	20744	Benign
19:13339419	NM_001127222.2(CACNA1A):c.5529-1078C>A	NA	not provided	20745	Benign
19:13339420	NM_001127222.2(CACNA1A):c.5529-1098AT[8]	NA	not provided	20746	Likely benign
19:13339420	NM_001127222.2(CACNA1A):c.5529-1098AT[9]	NA	not provided	20746	Benign
19:13339493	NM_001127222.2(CACNA1A):c.5529-1152C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	20819	Likely benign
19:13339494	NM_001127222.2(CACNA1A):c.5529-1153C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	20820	Likely benign
19:13339512	NM_001127222.2(CACNA1A):c.5529-1171G>A	rs1555736262	not provided	20838	Likely pathogenic
19:13339521	NM_001127222.2(CACNA1A):c.5529-1180G>A	rs2055560379	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20847	Uncertain significance
19:13339528	NM_001127222.2(CACNA1A):c.5529-1187T>C	rs201292159	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20854	Likely benign
19:13339530	NM_001127222.2(CACNA1A):c.5529-1189C>T	rs2055560659	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20856	Uncertain significance
19:13339536	NM_001127222.2(CACNA1A):c.5529-1195T>C	rs121908244	Episodic ataxia type 2	20862	not provided
19:13339536	NM_001127222.2(CACNA1A):c.5529-1195T>C	rs121908244	Episodic ataxia type 2	20862	not provided
19:13339545	NM_001127222.2(CACNA1A):c.5529-1204G>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20871	Uncertain significance
19:13339551	NM_001127222.2(CACNA1A):c.5529-1210G>A	rs1001063428	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20877	Uncertain significance
19:13339552	NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20878	Pathogenic
19:13339552	NM_001127222.2(CACNA1A):c.5529-1211C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20878	Likely benign
19:13339554	NM_001127222.2(CACNA1A):c.5529-1213C>G	NA	not provided	20880	Uncertain significance
19:13339555	NM_001127222.2(CACNA1A):c.5529-1214del	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	20881	Pathogenic
19:13339556	NM_001127222.2(CACNA1A):c.5529-1215C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20882	Likely pathogenic
19:13339557	NM_001127222.2(CACNA1A):c.5529-1216C>T	rs1057518533	not specified	20883	Uncertain significance
19:13339563	NM_001127222.2(CACNA1A):c.5529-1222T>C	NA	not provided	20889	Uncertain significance
19:13339566	NM_001127222.2(CACNA1A):c.5529-1225A>G	rs1432354078	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	20892	Uncertain significance
19:13339571	NM_001127222.2(CACNA1A):c.5529-1230G>A	rs1246077018	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20897	Uncertain significance
19:13339572	NM_001127222.2(CACNA1A):c.5529-1231C>T	rs1296262946	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	20898	Pathogenic
19:13339574	NM_001127222.2(CACNA1A):c.5529-1233T>C	NA	not provided	20900	Uncertain significance
19:13339581	NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del	rs1568440440	Cerebellar ataxia\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20907	Pathogenic
19:13339586	NM_001127222.2(CACNA1A):c.5529-1245T>C	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	20912	Uncertain significance
19:13339587	NM_001127222.2(CACNA1A):c.5529-1246A>G	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20913	Uncertain significance
19:13339589	NM_001127222.2(CACNA1A):c.5529-1248A>G	rs2055563143	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20915	Uncertain significance
19:13339595	NM_001127222.2(CACNA1A):c.5529-1254A>T	rs1568440462	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20921	Uncertain significance
19:13339598	NM_001127222.2(CACNA1A):c.5529-1257A>G	NA	not provided	20924	Uncertain significance
19:13339603	NM_001127222.2(CACNA1A):c.5529-1262G>T	rs1600124326	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20929	Likely benign
19:13339604	NM_001127222.2(CACNA1A):c.5529-1263G>T	rs770936656	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	20930	Uncertain significance
19:13339604	NM_001127222.2(CACNA1A):c.5529-1263G>A	NA	not provided	20930	Uncertain significance
19:13339608	NM_001127222.2(CACNA1A):c.5529-1267G>A	NA	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20934	Uncertain significance
19:13339609	NM_001127222.2(CACNA1A):c.5529-1268C>A	rs765557914	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	20935	Pathogenic
19:13339609	NM_001127222.2(CACNA1A):c.5529-1268C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	20935	Uncertain significance
19:13339613	NM_001127222.2(CACNA1A):c.5529-1272T>G	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20939	Likely benign
19:13339615	NM_001127222.2(CACNA1A):c.5529-1276_5529-1274del	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20941	Likely benign
19:13339623	NM_001127222.2(CACNA1A):c.5528+1273T>C	rs371000214	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	20949	Likely benign
19:13339673	NM_001127222.2(CACNA1A):c.5528+1223C>T	rs17846918	not provided	20999	Benign
19:13339690	NM_001127222.2(CACNA1A):c.5528+1206C>G	NA	not provided	21016	Likely benign
19:13339877	NM_001127222.2(CACNA1A):c.5528+1019del	NA	not provided	21203	Benign
19:13340880	NM_001127222.2(CACNA1A):c.5528+16G>A	rs775890060	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22206	Likely benign
19:13340886	NC_000019.9:g.(?_13340886)_(13342684_?)del	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22212	Likely pathogenic
19:13340889	NM_001127222.2(CACNA1A):c.5528+7A>G	rs367551746	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22215	Likely benign
19:13340890	NM_001127222.2(CACNA1A):c.5528+6A>G	rs762224302	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22216	Likely benign
19:13340903	NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr)	rs753229469	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22229	Uncertain significance
19:13340903	NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22229	Uncertain significance
19:13340904	NM_001127222.2(CACNA1A):c.5520C>T (p.Pro1840=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22230	Likely benign
19:13340907	NM_001127222.2(CACNA1A):c.5517C>A (p.Asp1839Glu)	rs372083869	not provided	22233	Uncertain significance
19:13340913	NM_001127222.2(CACNA1A):c.5511G>C (p.Glu1837Asp)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22239	Uncertain significance
19:13340915	NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys)	rs1408989522	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22241	Uncertain significance
19:13340916	NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=)	rs750338421	not specified\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22242	Benign/Likely benign
19:13340931	NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	22257	Likely benign
19:13340936	NM_001127222.2(CACNA1A):c.5488G>A (p.Glu1830Lys)	rs746886324	not provided	22262	Uncertain significance
19:13340940	NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=)	rs2055609637	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22266	Uncertain significance
19:13340945	NM_001127222.2(CACNA1A):c.5479C>G (p.His1827Asp)	rs1064795658	not provided	22271	Uncertain significance
19:13340946	NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22272	Pathogenic
19:13340947	NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)	rs2055610097	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42\|not provided	22273	Uncertain significance
19:13340948	NM_001127222.2(CACNA1A):c.5476del (p.His1826fs)	rs1600127096	not provided	22274	Likely pathogenic
19:13340952	NM_001127222.2(CACNA1A):c.5472C>A (p.Gly1824=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22278	Likely benign
19:13340953	NM_001127222.2(CACNA1A):c.5471G>A (p.Gly1824Asp)	rs1064795321	not provided	22279	Uncertain significance
19:13340956	NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro)	rs1057521706	not provided	22282	Uncertain significance
19:13340960	NM_001127222.2(CACNA1A):c.5464A>G (p.Ile1822Val)	rs1600127153	not provided	22286	Uncertain significance
19:13340969	NM_001127222.2(CACNA1A):c.5455G>A (p.Asp1819Asn)	NA	not provided	22295	Uncertain significance
19:13340971	NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln)	rs745900417	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22297	Uncertain significance
19:13340971	NM_001127222.2(CACNA1A):c.5453G>C (p.Arg1818Pro)	NA	not provided	22297	Uncertain significance
19:13340972	NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter)	rs267606696	not provided\|Episodic ataxia, type 2, and epilepsy	22298	Pathogenic
19:13340972	NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter)	rs267606696	not provided\|Episodic ataxia, type 2, and epilepsy	22298	Pathogenic
19:13340972	NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly)	rs267606696	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22298	Uncertain significance
19:13340973	NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)	rs188863534	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22299	Conflicting interpretations of pathogenicity
19:13340984	NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)	rs2055612253	Spinocerebellar ataxia type 6	22310	Likely pathogenic
19:13340985	NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu)	rs1600127242	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22311	Uncertain significance
19:13340998	NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)	rs2055612479	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22324	Uncertain significance
19:13340999	NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)	rs121908214	Migraine, familial hemiplegic, 1\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Familial hemiplegic migraine	22325	Pathogenic
19:13340999	NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)	rs121908214	Migraine, familial hemiplegic, 1\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Familial hemiplegic migraine	22325	Pathogenic
19:13341002	NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 52;Migraine, familial hemiplegic, 1	22328	Pathogenic/Likely pathogenic
19:13341003	NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=)	rs372359926	not specified\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22329	Likely benign
19:13341005	NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)	rs1555736565	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Developmental and epileptic encephalopathy, 42	22331	Conflicting interpretations of pathogenicity
19:13341005	NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)	rs1555736565	Generalized hypotonia;Strabismus;Global developmental delay	22331	Likely pathogenic
19:13341006	NM_001127222.2(CACNA1A):c.5418C>T (p.Val1806=)	rs561301072	History of neurodevelopmental disorder	22332	Likely benign
19:13341007	NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)	NA	Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2;Spinocerebellar ataxia type 6	22333	Likely pathogenic
19:13341009	NM_001127222.2(CACNA1A):c.5415T>C (p.Phe1805=)	rs1057523399	not specified	22335	Likely benign
19:13341015	NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22341	Pathogenic
19:13341026	NM_001127222.2(CACNA1A):c.5401-3C>T	rs375947967	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	22352	Conflicting interpretations of pathogenicity
19:13341033	NM_001127222.2(CACNA1A):c.5401-10G>T	rs370129945	not specified	22359	Likely benign
19:13341033	NM_001127222.2(CACNA1A):c.5401-10G>A	rs370129945	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22359	Likely benign
19:13341036	NM_001127222.2(CACNA1A):c.5401-13G>A	NA	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	22362	Uncertain significance
19:13341037	NM_001127222.2(CACNA1A):c.5401-14C>T	rs16042	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	22363	Benign
19:13341058	NM_001127222.2(CACNA1A):c.5401-35C>T	NA	not provided	22384	Likely benign
19:13342488	NM_001127222.2(CACNA1A):c.5400+36C>G	NA	not provided	23814	Benign
19:13342506	NM_001127222.2(CACNA1A):c.5400+18G>A	rs16040	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	23832	Likely benign
19:13342509	NM_001127222.2(CACNA1A):c.5400+15A>C	rs373246283	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	23835	Benign/Likely benign
19:13342516	NM_001127222.2(CACNA1A):c.5400+8T>C	rs772508313	not provided	23842	Likely benign
19:13342517	NM_001127222.2(CACNA1A):c.5400+7C>T	rs1046598864	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	23843	Likely benign
19:13342521	NM_001127222.2(CACNA1A):c.5400+3G>A	rs1034627495	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	23847	Uncertain significance
19:13342522	NM_001127222.2(CACNA1A):c.5400+2T>C	rs1057519197	not provided	23848	Likely pathogenic
19:13342530	NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=)	rs201681631	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	23856	Likely benign
19:13342531	NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)	rs1064794261	not provided\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Spinocerebellar ataxia type 6	23857	Pathogenic/Likely pathogenic
19:13342532	NM_001127222.2(CACNA1A):c.5392T>C (p.Ser1798Pro)	rs1568443280	not provided	23858	Likely pathogenic
19:13342582	NM_001127222.2(CACNA1A):c.5342del (p.Cys1781fs)	rs1600130724	not provided	23908	Pathogenic
19:13342583	NM_001127222.2(CACNA1A):c.5341T>C (p.Cys1781Arg)	rs1600130730	not provided	23909	Uncertain significance
19:13342588	NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)	rs267605294	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	23914	Uncertain significance
19:13342588	NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)	rs267605294	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	23914	Uncertain significance
19:13342589	NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	NA	not provided\|Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Spinocerebellar ataxia type 6;Episodic ataxia type 2	23915	Pathogenic
19:13342589	NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	23915	Uncertain significance
19:13342608	NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)	rs886043622	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not specified	23934	Conflicting interpretations of pathogenicity
19:13342611	NM_001127222.2(CACNA1A):c.5313T>C (p.Asp1771=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	23937	Likely benign
19:13342626	NM_001127222.2(CACNA1A):c.5298C>T (p.Ser1766=)	NA	not provided	23952	Likely benign
19:13342646	NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del)	rs2055675454	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	23972	Likely pathogenic
19:13342656	NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=)	rs373678557	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	23982	Benign/Likely benign
19:13342661	NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys)	rs121908226	Episodic ataxia type 2	23987	Pathogenic
19:13342661	NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys)	rs121908226	Episodic ataxia type 2	23987	Pathogenic
19:13342664	NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg)	rs1555737113	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Inborn genetic diseases\|not provided	23990	Pathogenic/Likely pathogenic
19:13342665	NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)	rs376684786	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	23991	Conflicting interpretations of pathogenicity
19:13342668	NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=)	rs753902560	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	23994	Likely benign
19:13342671	NM_001127222.2(CACNA1A):c.5253T>G (p.Ser1751Arg)	NA	not provided	23997	Uncertain significance
19:13342682	NM_001127222.2(CACNA1A):c.5250-8G>C	rs1555737120	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	24008	Likely benign
19:13342701	NM_001127222.2(CACNA1A):c.5250-27G>A	NA	not provided	24027	Benign
19:13342729	NM_001127222.2(CACNA1A):c.5250-55G>A	rs144170644	not provided	24055	Likely benign
19:13342775	NM_001127222.2(CACNA1A):c.5250-101C>T	NA	not provided	24101	Likely benign
19:13345526	NM_001127222.2(CACNA1A):c.5249+209C>T	rs11085837	not provided	26852	Benign
19:13345546	NM_001127222.2(CACNA1A):c.5249+165_5249+189del	rs202051301	not provided	26872	Benign
19:13345657	NM_001127222.2(CACNA1A):c.5249+78G>T	rs3765012	not provided	26983	Benign
19:13345706	NM_001127222.2(CACNA1A):c.5249+29T>C	NA	not provided	27032	Benign
19:13345727	NM_001127222.2(CACNA1A):c.5249+8G>C	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27053	Likely benign
19:13345728	NM_001127222.2(CACNA1A):c.5249+7A>C	rs1600138314	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27054	Likely benign
19:13345735	NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln)	rs781588570	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27061	Uncertain significance
19:13345736	NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)	rs1568446845	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	27062	Conflicting interpretations of pathogenicity
19:13345746	NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile)	rs1210283621	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27072	Uncertain significance
19:13345751	NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe)	rs2055823924	Developmental and epileptic encephalopathy, 42	27077	Uncertain significance
19:13345752	NM_001127222.2(CACNA1A):c.5232C>A (p.Ala1744=)	rs1600138370	not provided	27078	Likely benign
19:13345769	NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27095	Uncertain significance
19:13345771	NM_001127222.2(CACNA1A):c.5213T>C (p.Phe1738Ser)	NA	not specified	27097	Uncertain significance
19:13345775	NM_001127222.2(CACNA1A):c.5209A>T (p.Asn1737Tyr)	NA	not provided	27101	Uncertain significance
19:13345779	NM_001127222.2(CACNA1A):c.5205C>T (p.His1735=)	rs1057523955	not specified	27105	Likely benign
19:13345780	NM_001127222.2(CACNA1A):c.5204A>T (p.His1735Leu)	rs121908229	Episodic ataxia type 2	27106	not provided
19:13345780	NM_001127222.2(CACNA1A):c.5204A>T (p.His1735Leu)	rs121908229	Episodic ataxia type 2	27106	not provided
19:13345784	NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys)	rs1064795744	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27110	Uncertain significance
19:13345786	NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27112	Uncertain significance
19:13345791	NM_001127222.2(CACNA1A):c.5193A>C (p.Gln1731His)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27117	Uncertain significance
19:13345802	NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn)	NA	not provided	27128	Uncertain significance
19:13345810	NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27136	Uncertain significance
19:13345814	NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)	rs371595464	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27140	Conflicting interpretations of pathogenicity
19:13345817	NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27143	Uncertain significance
19:13345818	NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=)	rs200501726	not specified\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27144	Likely benign
19:13345821	NM_001127222.2(CACNA1A):c.5163G>A (p.Glu1721=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27147	Likely benign
19:13345822	NM_001127222.2(CACNA1A):c.5162A>G (p.Glu1721Gly)	rs1273682125	not provided	27148	Uncertain significance
19:13345826	NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met)	rs537982877	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27152	Likely benign
19:13345827	NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)	rs758409135	not specified\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27153	Conflicting interpretations of pathogenicity
19:13345829	NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)	rs368257155	not specified\|History of neurodevelopmental disorder\|not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27155	Uncertain significance
19:13345830	NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=)	rs751799133	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27156	Likely benign
19:13345845	NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu)	NA	Spinocerebellar ataxia type 6	27171	Uncertain significance
19:13345853	NM_001127222.2(CACNA1A):c.5134-3C>T	rs576141199	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	27179	Conflicting interpretations of pathogenicity
19:13345854	NM_001127222.2(CACNA1A):c.5134-4A>G	rs200165596	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27180	Likely benign
19:13345861	NM_001127222.2(CACNA1A):c.5134-11C>T	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27187	Likely benign
19:13345870	NM_001127222.2(CACNA1A):c.5134-20G>A	rs756590078	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27196	Likely benign
19:13346013	NM_001127222.2(CACNA1A):c.5133+10G>A	rs369033909	not specified\|not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27339	Conflicting interpretations of pathogenicity
19:13346018	NM_001127222.2(CACNA1A):c.5133+5G>A	NA	not provided	27344	Uncertain significance
19:13346020	NM_001127222.2(CACNA1A):c.5133+3G>C	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27346	Uncertain significance
19:13346025	NM_001127222.2(CACNA1A):c.5131C>A (p.Gln1711Lys)	rs1064795751	not provided	27351	Likely pathogenic
19:13346031	NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg)	rs1555738200	not provided	27357	Likely pathogenic
19:13346033	NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326	Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6\|Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided\|Neurodevelopmental delay	27359	Pathogenic
19:13346033	NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326	Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6\|Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided\|Neurodevelopmental delay	27359	Pathogenic
19:13346034	NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27360	Likely pathogenic
19:13346036	NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)	NA	Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2;Spinocerebellar ataxia type 6	27362	Likely pathogenic
19:13346038	NM_001127222.2(CACNA1A):c.5118C>T (p.Ala1706=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27364	Likely benign
19:13346041	NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter)	rs1600139005	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27367	Pathogenic
19:13346044	NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=)	rs1057521708	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27370	Likely benign
19:13346047	NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27373	Uncertain significance
19:13346052	NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu)	rs2055834394	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27378	Uncertain significance
19:13346061	NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr)	rs371273055	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27387	Uncertain significance
19:13346061	NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr)	rs371273055	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27387	Uncertain significance
19:13346061	NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27387	Uncertain significance
19:13346062	NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27388	Likely benign
19:13346068	NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=)	rs767743815	History of neurodevelopmental disorder	27394	Likely benign
19:13346076	NM_001127222.2(CACNA1A):c.5080G>A (p.Val1694Ile)	rs121908224	Migraine, familial hemiplegic, 1	27402	not provided
19:13346076	NM_001127222.2(CACNA1A):c.5080G>A (p.Val1694Ile)	rs121908224	Migraine, familial hemiplegic, 1	27402	not provided
19:13346084	NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln)	rs2055835744	Developmental and epileptic encephalopathy, 42	27410	Likely pathogenic
19:13346089	NM_001127222.2(CACNA1A):c.5068-1G>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27415	Likely pathogenic
19:13346137	NM_001127222.2(CACNA1A):c.5068-49C>T	NA	not provided	27463	Benign
19:13346408	NM_001127222.2(CACNA1A):c.5067+20G>A	rs184517632	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27734	Benign
19:13346417	NM_001127222.2(CACNA1A):c.5067+11G>A	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27743	Likely benign
19:13346418	NM_001127222.2(CACNA1A):c.5067+10C>G	rs549805937	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27744	Likely benign
19:13346418	NM_001127222.2(CACNA1A):c.5067+10C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27744	Likely benign
19:13346435	NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)	rs1568447557	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27761	Uncertain significance
19:13346438	NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg)	rs2055848608	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27764	Uncertain significance
19:13346439	NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter)	rs1600139781	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Episodic ataxia type 2	27765	Pathogenic/Likely pathogenic
19:13346442	NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)	NA	not provided	27768	Uncertain significance
19:13346447	NM_001127222.2(CACNA1A):c.5048C>T (p.Thr1683Ile)	rs1568447571	not provided	27773	Uncertain significance
19:13346451	NM_001127222.2(CACNA1A):c.5044T>C (p.Trp1682Arg)	rs121908221	Migraine, familial hemiplegic, 1	27777	not provided
19:13346451	NM_001127222.2(CACNA1A):c.5044T>C (p.Trp1682Arg)	rs121908221	Migraine, familial hemiplegic, 1	27777	not provided
19:13346462	NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)	rs2055849544	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|Intellectual disability	27788	Uncertain significance
19:13346463	NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)	rs121908243	Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27789	Uncertain significance
19:13346463	NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)	rs121908243	Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27789	Uncertain significance
19:13346464	NM_001127222.2(CACNA1A):c.5031C>A (p.Ile1677=)	rs1555738339	not specified	27790	Likely benign
19:13346466	NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27792	Uncertain significance
19:13346474	NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp)	NA	not provided	27800	Uncertain significance
19:13346477	NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg)	rs2055850287	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27803	Uncertain significance
19:13346479	NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)	NA	Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2;Spinocerebellar ataxia type 6	27805	Pathogenic
19:13346480	NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)	rs1057519429	Cerebellar ataxia\|Cerebellar ataxia;Intellectual disability;Cerebellar atrophy\|Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2	27806	Likely pathogenic
19:13346480	NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His)	NA	not provided\|Developmental and epileptic encephalopathy, 42	27806	Uncertain significance
19:13346481	NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)	rs794727558	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27807	Conflicting interpretations of pathogenicity
19:13346481	NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)	rs794727558	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27807	Conflicting interpretations of pathogenicity
19:13346494	NM_001127222.2(CACNA1A):c.5001C>T (p.Leu1667=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27820	Likely benign
19:13346496	NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27822	Uncertain significance
19:13346498	NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)	rs1568447650	not provided\|Spastic ataxia	27824	Conflicting interpretations of pathogenicity
19:13346498	NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	rs1568447650	CACNA1A-related condition\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Spinocerebellar ataxia type 6	27824	Pathogenic/Likely pathogenic
19:13346499	NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)	rs121908220	Migraine, familial hemiplegic, 1\|not provided	27825	Pathogenic/Likely pathogenic
19:13346499	NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)	rs121908220	Migraine, familial hemiplegic, 1\|not provided	27825	Pathogenic/Likely pathogenic
19:13346507	NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247	Spinocerebellar ataxia type 6\|Chronic and progressive ataxia\|not provided\|Enlarged cisterna magna;Global developmental delay\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|History of neurodevelopmental disorder\|Ataxia _ Neurologic (child onset);Non-progressive congenital cerebellar ataxia\|Neurodevelopmental delay	27833	Conflicting interpretations of pathogenicity
19:13346507	NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247	Spinocerebellar ataxia type 6\|Chronic and progressive ataxia\|not provided\|Enlarged cisterna magna;Global developmental delay\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|History of neurodevelopmental disorder\|Ataxia _ Neurologic (child onset);Non-progressive congenital cerebellar ataxia\|Neurodevelopmental delay	27833	Conflicting interpretations of pathogenicity
19:13346508	NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)	rs1555738369	not provided\|Spinocerebellar ataxia type 6	27834	Pathogenic
19:13346516	NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216	Episodic ataxia type 2\|not provided\|Spinocerebellar ataxia type 6\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27842	Pathogenic/Likely pathogenic
19:13346516	NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216	Episodic ataxia type 2\|not provided\|Spinocerebellar ataxia type 6\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27842	Pathogenic/Likely pathogenic
19:13346517	NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)	NA	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27843	Conflicting interpretations of pathogenicity
19:13346520	NM_001127222.2(CACNA1A):c.4975C>T (p.Leu1659Phe)	NA	not provided	27846	Uncertain significance
19:13346547	NM_001127222.2(CACNA1A):c.4951-3del	rs1600140005	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27873	Likely benign
19:13346554	NM_001127222.2(CACNA1A):c.4951-10A>C	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	27880	Likely benign
19:13346558	NM_001127222.2(CACNA1A):c.4951-14C>T	rs1019678447	not specified\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	27884	Likely benign
19:13352292	NM_001127222.2(CACNA1A):c.4950+3704C>T	NA	not provided	33618	Benign
19:13352293	NM_001127222.2(CACNA1A):c.4950+3703A>C	NA	not provided	33619	Benign
19:13352334	NM_001127222.2(CACNA1A):c.4950+3662G>T	rs1600152215	not provided	33660	Pathogenic
19:13352372	NM_001127222.2(CACNA1A):c.4950+3624C>T	NA	not provided	33698	Likely benign
19:13352379	NM_001127222.2(CACNA1A):c.4950+3617G>A	NA	not provided	33705	Benign
19:13355830	NM_001127222.2(CACNA1A):c.4950+166C>A	NA	not provided	37156	Likely benign
19:13355900	NM_001127222.2(CACNA1A):c.4950+96A>C	NA	Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6\|not provided	37226	Benign
19:13355924	NM_001127222.2(CACNA1A):c.4950+72G>A	NA	not provided	37250	Benign
19:13355981	NM_001127222.2(CACNA1A):c.4950+15A>C	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37307	Benign
19:13355981	NM_001127222.2(CACNA1A):c.4950+15A>G	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37307	Likely benign
19:13355995	NM_001127222.2(CACNA1A):c.4950+1G>T	rs1568457080	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37321	Pathogenic
19:13356004	NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter)	rs2056193902	not provided	37330	Likely pathogenic
19:13356004	NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37330	Uncertain significance
19:13356011	NM_001127222.2(CACNA1A):c.4935C>T (p.Leu1645=)	rs1401183344	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	37337	Likely benign
19:13356015	NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	37341	Uncertain significance
19:13356019	NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)	rs1064795531	not provided\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Spinocerebellar ataxia type 6\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Spinocerebellar ataxia type 6;Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52	37345	Conflicting interpretations of pathogenicity
19:13356020	NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=)	rs16036	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37346	Benign/Likely benign
19:13356030	NM_001127222.2(CACNA1A):c.4916G>A (p.Gly1639Asp)	NA	not provided	37356	Uncertain significance
19:13356047	NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37373	Uncertain significance
19:13356049	NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)	rs1555740805	not provided\|Inborn genetic diseases\|CACNA1A-related disorders\|Episodic ataxia type 2\|Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2;Migraine, familial hemiplegic, 1	37375	Conflicting interpretations of pathogenicity
19:13356050	NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=)	rs374613316	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	37376	Likely benign
19:13356055	NM_001127222.2(CACNA1A):c.4891A>G (p.Ile1631Val)	rs539463134	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	37381	Likely benign
19:13356065	NM_001127222.2(CACNA1A):c.4881T>C (p.Asp1627=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	37391	Likely benign
19:13356067	NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn)	rs573209959	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37393	Uncertain significance
19:13356069	NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His)	rs777769751	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37395	Uncertain significance
19:13356070	NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys)	rs747020168	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37396	Uncertain significance
19:13356072	NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys)	rs771061659	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37398	Uncertain significance
19:13356085	NM_001127222.2(CACNA1A):c.4867-7dup	rs2056196193	not provided	37411	Uncertain significance
19:13356085	NM_001127222.2(CACNA1A):c.4867-6T>G	rs2056196120	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37411	Uncertain significance
19:13356087	NM_001127222.2(CACNA1A):c.4867-8C>T	rs1057522362	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	37413	Likely benign
19:13356097	NM_001127222.2(CACNA1A):c.4867-18T>C	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	37423	Likely benign
19:13356150	NM_001127222.2(CACNA1A):c.4867-71A>C	rs16035	not provided\|Developmental and epileptic encephalopathy, 42\|Migraine, familial hemiplegic, 1\|Episodic ataxia type 2\|Spinocerebellar ataxia type 6	37476	Benign
19:13356380	NM_001127222.2(CACNA1A):c.4867-301A>G	rs2302080	not provided	37706	Benign
19:13359680	NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)	rs863224852	Spinocerebellar ataxia type 6;Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	41006	Pathogenic/Likely pathogenic
19:13359707	NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)	rs121908215	Spinocerebellar ataxia type 6\|Episodic ataxia type 2\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	41033	Pathogenic
19:13359708	NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)	rs16006	not specified\|History of neurodevelopmental disorder\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	41034	Benign
19:13359724	NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr)	rs121908236	Episodic ataxia type 2	41050	Pathogenic
19:13359800	NC_000019.10:g.(13359800_13371688)_(13371779_13505931)del	NA	Episodic ataxia type 2	41126	Pathogenic
19:13363495	NM_001127222.2(CACNA1A):c.4866+310G>A	NA	not provided	44821	Likely benign
19:13363532	NM_001127222.2(CACNA1A):c.4866+273C>T	NA	not provided	44858	Likely benign
19:13363792	NM_001127222.2(CACNA1A):c.4866+13T>C	rs368876802	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45118	Benign/Likely benign
19:13363795	NM_001127222.2(CACNA1A):c.4866+10A>G	rs746939321	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45121	Likely benign
19:13363799	NM_001127222.2(CACNA1A):c.4866+6T>A	rs757178835	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45125	Uncertain significance
19:13363804	NM_001127222.2(CACNA1A):c.4866+1G>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45130	Likely pathogenic
19:13363811	NM_001127222.2(CACNA1A):c.4860G>A (p.Gly1620=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	45137	Likely benign
19:13363821	NM_001127222.2(CACNA1A):c.4850T>C (p.Met1617Thr)	rs1469756019	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	45147	Uncertain significance
19:13363828	NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu)	rs2056443467	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45154	Uncertain significance
19:13363829	NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs)	rs587776695	Episodic ataxia type 2	45155	Pathogenic
19:13363829	NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs)	rs587776695	Episodic ataxia type 2	45155	Pathogenic
19:13363835	NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp)	rs781413708	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45161	Uncertain significance
19:13363835	NM_001127222.2(CACNA1A):c.4836T>C (p.Cys1612=)	rs781413708	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	45161	Likely benign
19:13363842	NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs)	rs2056443833	not provided	45168	Pathogenic
19:13363847	NM_001127222.2(CACNA1A):c.4824C>T (p.Phe1608=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45173	Likely benign
19:13363850	NM_001127222.2(CACNA1A):c.4821C>A (p.Leu1607=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	45176	Likely benign
19:13363864	NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)	rs943715197	not specified	45190	Uncertain significance
19:13363865	NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=)	rs372240227	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45191	Conflicting interpretations of pathogenicity
19:13363866	NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr)	rs2056444494	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45192	Uncertain significance
19:13363867	NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)	rs2056444576	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45193	Uncertain significance
19:13363876	NM_001127222.2(CACNA1A):c.4795del (p.Val1599fs)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45202	Pathogenic
19:13363880	NM_001127222.2(CACNA1A):c.4791G>A (p.Leu1597=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	45206	Likely benign
19:13363885	NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr)	rs769043258	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	45211	Uncertain significance
19:13363885	NM_001127222.2(CACNA1A):c.4783_4786delinsCA (p.Asn1595fs)	NA	not provided	45211	Pathogenic
19:13363892	NM_001127222.2(CACNA1A):c.4779T>C (p.Tyr1593=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45218	Likely benign
19:13363899	NM_001127222.2(CACNA1A):c.4772T>C (p.Val1591Ala)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45225	Uncertain significance
19:13363906	NM_001127222.2(CACNA1A):c.4765del (p.Ala1589fs)	NA	not provided	45232	Pathogenic
19:13363907	NM_001127222.2(CACNA1A):c.4764G>A (p.Gly1588=)	rs1294804448	not provided	45233	Uncertain significance
19:13363913	NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu)	rs2056445437	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45239	Uncertain significance
19:13363919	NM_001127222.2(CACNA1A):c.4756-4del	rs752161961	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	45245	Likely benign
19:13363919	NM_001127222.2(CACNA1A):c.4756-4C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	45245	Likely benign
19:13364012	NM_001127222.2(CACNA1A):c.4756-97G>A	rs8103699	not provided\|Developmental and epileptic encephalopathy, 42\|Episodic ataxia type 2\|Migraine, familial hemiplegic, 1\|Spinocerebellar ataxia type 6	45338	Benign
19:13364131	NM_001127222.2(CACNA1A):c.4756-216del	NA	not provided	45457	Benign
19:13364153	NM_001127222.2(CACNA1A):c.4756-238G>A	NA	not provided	45479	Benign
19:13365335	NM_001127222.2(CACNA1A):c.766T>C (p.Cys256Arg)	rs121908231	Episodic ataxia type 2	46661	not provided
19:13365344	NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)	rs121908228	Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	46670	Likely pathogenic
19:13365358	NM_001127222.2(CACNA1A):c.743A>G (p.Tyr248Cys)	rs121908238	Episodic ataxia type 2	46684	not provided
19:13365447	NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=)	rs201991581	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	46773	Benign/Likely benign
19:13365448	NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)	rs121908225	Migraine, familial hemiplegic, 1\|Episodic ataxia type 2\|Familial hemiplegic migraine\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|not provided	46774	Pathogenic
19:13365728	NM_001127222.2(CACNA1A):c.4755+181T>G	NA	not provided	47054	Likely benign
19:13365809	NM_001127222.2(CACNA1A):c.4755+100A>G	NA	not provided	47135	Benign
19:13365863	NM_001127222.2(CACNA1A):c.4755+46G>A	NA	not provided	47189	Benign
19:13365897	NM_001127222.2(CACNA1A):c.4755+12A>C	rs1057522757	not specified	47223	Likely benign
19:13365924	NM_001127222.2(CACNA1A):c.4740C>T (p.Ile1580=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	47250	Likely benign
19:13365938	NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr)	NA	not provided	47264	Uncertain significance
19:13365939	NM_001127222.2(CACNA1A):c.4725C>T (p.Ile1575=)	rs751308492	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47265	Likely benign
19:13365944	NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val)	rs1555743201	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47270	Uncertain significance
19:13365950	NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)	rs2056510928	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided\|Episodic ataxia type 2	47276	Conflicting interpretations of pathogenicity
19:13365954	NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=)	rs761547761	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47280	Likely benign
19:13365954	NM_001127222.2(CACNA1A):c.4710G>A (p.Thr1570=)	rs761547761	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	47280	Likely benign
19:13365956	NM_001127222.2(CACNA1A):c.4708A>T (p.Thr1570Ser)	rs750368591	not provided	47282	Uncertain significance
19:13365957	NM_001127222.2(CACNA1A):c.4707C>T (p.Tyr1569=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47283	Likely benign
19:13365969	NM_001127222.2(CACNA1A):c.4695G>A (p.Pro1565=)	rs753924411	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47295	Likely benign
19:13365969	NM_001127222.2(CACNA1A):c.4694dup (p.Pro1566fs)	rs1600180395	not provided	47295	Pathogenic
19:13365971	NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser)	rs1353824164	not provided	47297	Uncertain significance
19:13365980	NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met)	rs1568465560	History of neurodevelopmental disorder	47306	Uncertain significance
19:13365980	NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu)	rs1568465560	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	47306	Uncertain significance
19:13365981	NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu)	rs377082780	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47307	Uncertain significance
19:13365994	NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)	rs755172189	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2\|History of neurodevelopmental disorder	47320	Uncertain significance
19:13365996	NM_001127222.2(CACNA1A):c.4668C>T (p.Tyr1556=)	rs370203027	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	47322	Likely benign
19:13366001	NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter)	rs1600180457	not provided	47327	Likely pathogenic
19:13366002	NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)	rs182161386	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47328	Uncertain significance
19:13366005	NM_001127222.2(CACNA1A):c.4659C>T (p.Ser1553=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	47331	Likely benign
19:13366017	NM_001127222.2(CACNA1A):c.4647G>A (p.Gln1549=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47343	Likely benign
19:13366018	NM_001127222.2(CACNA1A):c.4646A>G (p.Gln1549Arg)	NA	not provided	47344	Uncertain significance
19:13366020	NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=)	rs199854716	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	47346	Benign/Likely benign
19:13366021	NM_001127222.2(CACNA1A):c.4643C>T (p.Pro1548Leu)	NA	not provided	47347	Uncertain significance
19:13366028	NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47354	Uncertain significance
19:13366030	NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47356	Uncertain significance
19:13366031	NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324	Inborn genetic diseases\|Episodic ataxia type 2;Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1\|Episodic ataxia type 2	47357	Pathogenic/Likely pathogenic
19:13366031	NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324	Inborn genetic diseases\|Episodic ataxia type 2;Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1\|Episodic ataxia type 2	47357	Pathogenic/Likely pathogenic
19:13366032	NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)	rs150378053	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	47358	Benign/Likely benign
19:13366032	NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)	rs150378053	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|History of neurodevelopmental disorder\|not provided	47358	Benign/Likely benign
19:13366038	NM_001127222.2(CACNA1A):c.4626G>A (p.Pro1542=)	rs768317498	not specified	47364	Likely benign
19:13366039	NM_001127222.2(CACNA1A):c.4625C>T (p.Pro1542Leu)	rs773901223	not provided	47365	Uncertain significance
19:13366046	NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr)	rs761579946	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47372	Uncertain significance
19:13366047	NM_001127222.2(CACNA1A):c.4617C>T (p.Ser1539=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	47373	Likely benign
19:13366055	NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	47381	Uncertain significance
19:13366056	NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47382	Likely benign
19:13366063	NM_001127222.2(CACNA1A):c.4601T>C (p.Ile1534Thr)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47389	Uncertain significance
19:13366065	NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	47391	Pathogenic
19:13366072	NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47398	Uncertain significance
19:13366075	NM_001127222.2(CACNA1A):c.4591-2A>G	rs1600180659	Episodic ataxia type 2	47401	Likely pathogenic
19:13366077	NM_001127222.2(CACNA1A):c.4591-4G>A	rs370348070	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	47403	Likely benign
19:13366078	NM_001127222.2(CACNA1A):c.4591-5del	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47404	Likely benign
19:13366078	NM_001127222.2(CACNA1A):c.4591-5C>T	NA	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	47404	Likely benign
19:13366082	NM_001127222.2(CACNA1A):c.4591-9C>G	rs16032	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	47408	Benign
19:13366225	NM_001127222.2(CACNA1A):c.4591-152A>G	NA	not provided	47551	Benign
19:13367980	NM_001127222.2(CACNA1A):c.4590+184T>C	NA	not provided	49306	Benign
19:13368031	NM_001127222.2(CACNA1A):c.4590+133A>G	NA	not provided	49357	Benign
19:13368131	NM_001127222.2(CACNA1A):c.4590+33A>G	NA	not provided	49457	Likely benign
19:13368151	NM_001127222.2(CACNA1A):c.4590+13A>G	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49477	Uncertain significance
19:13368152	NM_001127222.2(CACNA1A):c.4590+12A>G	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49478	Likely benign
19:13368175	NM_001127222.2(CACNA1A):c.4579G>C (p.Glu1527Gln)	rs1568468148	History of neurodevelopmental disorder	49501	Uncertain significance
19:13368180	NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn)	rs2056600119	not provided	49506	Uncertain significance
19:13368193	NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49519	Uncertain significance
19:13368198	NM_001127222.2(CACNA1A):c.4556A>G (p.Lys1519Arg)	rs752888622	not provided	49524	Uncertain significance
19:13368204	NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val)	NA	Developmental and epileptic encephalopathy, 42	49530	Uncertain significance
19:13368205	NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg)	NA	Developmental and epileptic encephalopathy, 42	49531	Likely pathogenic
19:13368214	NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs)	rs2056600391	Episodic ataxia type 2	49540	Pathogenic
19:13368219	NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49545	Uncertain significance
19:13368224	NM_001127222.2(CACNA1A):c.4530C>T (p.Ile1510=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49550	Likely benign
19:13368227	NM_001127222.2(CACNA1A):c.4527C>G (p.Ile1509Met)	NA	not provided	49553	Uncertain significance
19:13368233	NM_001127222.2(CACNA1A):c.4521C>A (p.Ala1507=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49559	Benign
19:13368234	NM_001127222.2(CACNA1A):c.4520C>A (p.Ala1507Asp)	rs1064794629	not provided	49560	Likely pathogenic
19:13368235	NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser)	rs886037946	Developmental and epileptic encephalopathy, 42	49561	Pathogenic
19:13368235	NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser)	rs886037946	Developmental and epileptic encephalopathy, 42	49561	Pathogenic
19:13368235	NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	NA	Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2;Spinocerebellar ataxia type 6	49561	Pathogenic
19:13368238	NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu)	rs1322080885	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49564	Uncertain significance
19:13368239	NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu)	NA	Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;Episodic ataxia type 2	49565	not provided
19:13368240	NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49566	Pathogenic
19:13368246	NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser)	NA	Cerebellar ataxia	49572	Uncertain significance
19:13368251	NM_001127222.2(CACNA1A):c.4501_4503del (p.Phe1501del)	rs1131691374	not provided	49577	Pathogenic
19:13368252	NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)	rs886041279	not provided\|Spinocerebellar ataxia type 6\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|Migraine, familial hemiplegic, 1	49578	Pathogenic
19:13368254	NM_001127222.2(CACNA1A):c.4500C>T (p.Phe1500=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49580	Likely benign
19:13368261	NM_001127222.2(CACNA1A):c.4493C>G (p.Pro1498Arg)	NA	Neurodevelopmental delay	49587	Likely pathogenic
19:13368275	NM_001127222.2(CACNA1A):c.4479C>T (p.Tyr1493=)	rs1057522060	not specified	49601	Likely benign
19:13368280	NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile)	rs121908234	Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49606	Uncertain significance
19:13368280	NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile)	rs121908234	Episodic ataxia type 2\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49606	Uncertain significance
19:13368283	NM_001127222.2(CACNA1A):c.4471G>T (p.Val1491Phe)	NA	CACNA1A-related disorders	49609	Uncertain significance
19:13368284	NM_001127222.2(CACNA1A):c.4470C>T (p.Tyr1490=)	NA	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49610	Likely benign
19:13368285	NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys)	rs1064795901	not provided	49611	Uncertain significance
19:13368287	NM_001127222.2(CACNA1A):c.4467C>T (p.Phe1489=)	rs1600186663	not provided\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49613	Likely benign
19:13368288	NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser)	rs121908233	Episodic ataxia type 2	49614	Likely pathogenic
19:13368288	NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser)	rs121908233	Episodic ataxia type 2	49614	Likely pathogenic
19:13368292	NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49618	Uncertain significance
19:13368306	NM_001127222.2(CACNA1A):c.4448G>T (p.Arg1483Leu)	rs1271930393	not provided	49632	Uncertain significance
19:13368307	NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49633	Uncertain significance
19:13368311	NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=)	rs750865024	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49637	Likely benign
19:13368313	NM_001127222.2(CACNA1A):c.4441G>A (p.Gly1481Arg)	rs121908232	Episodic ataxia type 2	49639	not provided
19:13368313	NM_001127222.2(CACNA1A):c.4441G>A (p.Gly1481Arg)	rs121908232	Episodic ataxia type 2	49639	not provided
19:13368314	NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=)	rs756711282	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49640	Likely benign
19:13368320	NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs)	rs2056602254	not provided	49646	Pathogenic
19:13368324	NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp)	rs2056602306	not provided	49650	Pathogenic
19:13368328	NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter)	rs1555743942	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49654	Pathogenic
19:13368343	NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr)	rs1187916307	History of neurodevelopmental disorder	49669	Uncertain significance
19:13368344	NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)	rs374555263	not specified\|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42\|not provided	49670	Benign/Likely benign
19:13368350	NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=)	rs557205300	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49676	Benign
19:13368351	NM_001127222.2(CACNA1A):c.4403C>T (p.Ser1468Leu)	NA	not provided	49677	Uncertain significance
19:13368356	NM_001127222.2(CACNA1A):c.4398G>A (p.Lys1466=)	rs1555743957	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49682	Likely benign
19:13368362	NM_001127222.2(CACNA1A):c.4392C>A (p.Val1464=)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49688	Likely benign
19:13368364	NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile)	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49690	Uncertain significance
19:13368366	NM_001127222.2(CACNA1A):c.4389-1G>C	rs1360397142	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49692	Pathogenic
19:13368370	NM_001127222.2(CACNA1A):c.4389-5T>C	rs896214992	not provided\|Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49696	Likely benign
19:13368372	NM_001127222.2(CACNA1A):c.4389-7C>T	rs1417689500	Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2	49698	Likely benign
19:13368380	NM_001127222.2(CACNA1A):c.4389-15C>T	NA	Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42	49706	Likely benign
19:13368588	NM_001127222.2(CACNA1A):c.4389-223C>T	NA	not provided	49914	Benign

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
19:13268712-13273992	AFR	5.281	-49962	downstream	17	rs35500632, rs111730030, rs142567349, rs12461740, rs2043290, rs2043289, rs61736187, rs57209405, rs111243977, rs74426636, rs77646010, rs113600688, rs73922347, rs10403956, rs147237391, rs111654640, rs74558,
19:13274431-13274526	AFR	0.096	-44243	downstream	2	rs892019, rs6210992,
19:13275172-13277269	AMR	2.098	-43502	downstream	4	rs140357453, rs62109930, rs752340, rs56619941,
19:13275172-13277269	EUR	2.098	-43502	downstream	4	rs140357453, rs62109930, rs752340, rs56619941,
19:13275412-13277269	EAS	1.858	-43262	downstream	3	rs62109930, rs752340, rs56619941,
19:13276345-13276402	AFR	0.058	-42329	downstream	2	rs752340, rs11256375,
19:13280056-13280483	EAS	0.428	-38618	downstream	2	rs565449783, rs724791,
19:13280464-13281906	AFR	1.443	-38210	downstream	7	rs139835701, rs7247912, rs114647898, rs7251821, rs113789244, rs10413668, rs11206932,
19:13280483-13281906	all_pop	1.424	-38191	downstream	5	rs7247912, rs7251821, rs113789244, rs10413668, rs11206932,
19:13281908-13282129	EAS	0.222	-36766	downstream	2	rs565412099, rs7669296,
19:13281908-13284603	EUR	2.696	-36766	downstream	4	rs565412099, rs76692968, rs8113706, rs1085412,
19:13281929-13284603	AFR	2.675	-36745	downstream	14	rs10411537, rs116345788, rs139129771, rs76692968, rs8109821, rs8113053, rs200344975, rs371023964, rs60890797, rs141306234, rs12985882, rs8113706, rs73509418, rs1085412,
19:13281929-13284603	all_pop	2.675	-36745	downstream	9	rs10411537, rs76692968, rs8109821, rs8113053, rs371023964, rs60890797, rs12985882, rs8113706, rs1085412,
19:13282129-13283539	AMR	1.411	-36545	downstream	2	rs76692968, rs811370,
19:13282129-13283539	SAS	1.411	-36545	downstream	2	rs76692968, rs811370,
19:13284603-13285293	EAS	0.691	-34071	downstream	3	rs10854122, rs8107352, rs811068,
19:13284603-13288125	SAS	3.523	-34071	downstream	10	rs10854122, rs8107352, rs8110682, rs62109933, rs74439972, rs545458359, rs8110943, rs149149954, rs60326852, rs1108583,
19:13285234-13285293	AFR	0.06	-33440	downstream	2	rs8107352, rs811068,
19:13285234-13285293	all_pop	0.06	-33440	downstream	2	rs8107352, rs811068,
19:13285234-13285834	AMR	0.601	-33440	downstream	4	rs8107352, rs8110682, rs62109933, rs7443997,
19:13285293-13285834	EUR	0.542	-33381	downstream	3	rs8110682, rs62109933, rs7443997,
19:13285458-13285974	all_pop	0.517	-33216	downstream	4	rs35887334, rs62109933, rs74439972, rs1297219,
19:13285508-13285834	AFR	0.327	-33166	downstream	2	rs62109933, rs7443997,
19:13285508-13285834	EAS	0.327	-33166	downstream	2	rs62109933, rs7443997,
19:13286001-13286705	AFR	0.705	-32673	downstream	5	rs138924494, rs142148763, rs112209206, rs8100726, rs811094,
19:13286001-13287413	all_pop	1.413	-32673	downstream	5	rs138924494, rs112209206, rs8100726, rs8110943, rs14914995,
19:13286705-13288125	AMR	1.421	-31969	downstream	5	rs8110943, rs149149954, rs60326852, rs143214274, rs1108583,
19:13286705-13287413	EAS	0.709	-31969	downstream	2	rs8110943, rs14914995,
19:13287413-13288125	EUR	0.713	-31261	downstream	3	rs149149954, rs60326852, rs1108583,
19:13287755-13288125	all_pop	0.371	-30919	downstream	2	rs10416351, rs1108583,
19:13288125-13288394	AFR	0.27	-30549	downstream	2	rs11085830, rs1042509,
19:13288782-13288876	AFR	0.095	-29892	downstream	2	rs35591839, rs3519760,
19:13290374-13290786	all_pop	0.413	-28300	downstream	2	rs139749381, rs54811937,
19:13290374-13290786	EUR	0.413	-28300	downstream	2	rs139749381, rs54811937,
19:13290413-13291775	AFR	1.363	-28261	downstream	10	rs12983376, rs146796433, rs113472262, rs548119374, rs67379978, rs8110242, rs35290905, rs75311711, rs60826444, rs6210993,
19:13290786-13292357	SAS	1.572	-27888	downstream	10	rs548119374, rs67379978, rs75311711, rs62109936, rs77416373, rs10422462, rs62109937, rs62109938, rs62109939, rs810012,
19:13290810-13291191	AMR	0.382	-27864	downstream	2	rs67379978, rs7531171,
19:13290810-13291901	EAS	1.092	-27864	downstream	5	rs67379978, rs75311711, rs62109936, rs77416373, rs1042246,
19:13290810-13291191	EUR	0.382	-27864	downstream	2	rs67379978, rs7531171,
19:13290811-13292263	all_pop	1.453	-27863	downstream	8	rs8110242, rs75311711, rs62109936, rs77416373, rs10422462, rs62109937, rs62109938, rs6210993,

Conservation score was not calculated