Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	SNV Germline	Chr19:13303877	Pathogenic	Migraine, familial hemiplegic, 1 Migraine, sporadic hemiplegic, with progressive cerebellar ataxia Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Familial hemiplegic migraine Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Condition: not provided Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Multiple Submitters No Conflicts	CA119650	rs_121908212	20 SubmittersRCV000009009 RCV000009010 RCV000802118 RCV000504541 RCV001533159 RCV002051776 RCV002415406 RCV005025039 RCV000516650 RCV003233067
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	SNV Germline	Chr19:13235702	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA254430	rs_121908216	15 SubmittersRCV000009017 RCV000517293 RCV001381850 RCV001542800
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)	SNV Germline	Chr19:13359707	Pathogenic/Likely pathogenic	Spinocerebellar ataxia type 6 Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254437	rs_121908215	4 SubmittersRCV000009018 RCV000009019 RCV001388786 RCV004700207
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	SNV Germline	Chr19:13308452	Pathogenic	Migraine, familial hemiplegic, 1 Sporadic hemiplegic migraine Spinocerebellar ataxia type 6 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Familial hemiplegic migraine Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA119653	rs_121908217	14 SubmittersRCV000009028 RCV000009029 RCV000009030 RCV000517519 RCV001380080 RCV001533158 RCV002227018 RCV004766989
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	SNV Germline	Chr19:13255217	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Inborn genetic diseases Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA254479	rs_121909324	9 SubmittersRCV000009032 RCV000763032 RCV000622947 RCV002466397 RCV002512927
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	SNV Germline	Chr19:13235219	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA254489	rs_121909326	6 SubmittersRCV000009035 RCV000009036 RCV000157056 RCV001804718 RCV001049766 RCV002345236 RCV002273923
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)	SNV Germline	Chr19:13262789	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 1 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA254496	rs_121908230	9 SubmittersRCV000009039 RCV000516653 RCV005222676 RCV004795386 RCV004766990
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	SNV Germline	Chr19:13235693	Pathogenic/Likely pathogenic	Spinocerebellar ataxia type 6 Chronic and progressive ataxia Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Enlarged cisterna magna Global developmental delay Ataxia _ Neurologic (child onset) Non-progressive congenital cerebellar ataxia Developmental and epileptic encephalopathy, 42 Neurodevelopmental delay Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA185906	rs_121908247	18 SubmittersRCV000059302 RCV000157057 RCV000653331 RCV000679889 RCV000406556 RCV000415457 RCV000755049 RCV003152591 RCV002273953 RCV002311540
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)	SNV Germline	Chr19:13209438	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Cerebellar ataxia not specified Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 6 Tip-toe gait	Criteria Provided Conflicting Classifications	CA266074	rs_121908235	13 SubmittersRCV000059310 RCV000653342 RCV000788079 RCV001174863 RCV000710089 RCV002362698 RCV001849176 RCV003319317
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)	SNV Germline	Chr19:13231774	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239759	rs_267605294	5 SubmittersRCV005025115 RCV005208125 RCV000692683 RCV001289290 RCV002345374
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	SNV Germline	Chr19:13261526	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Migraine Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA242642	rs_794727411	20 SubmittersRCV000176622 RCV000662177 RCV000415108 RCV000623848 RCV000604986 RCV001061471 RCV000662178 RCV000662179 RCV000662176 RCV002227083 RCV004796069
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)	SNV Germline	Chr19:13371726	Conflicting classifications of pathogenicity	not specified Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA207980	rs_797045424	5 SubmittersRCV000194067 RCV000764184 RCV001289293 RCV003765213
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)	SNV Germline	Chr19:13359680	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Spinocerebellar ataxia type 6 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA278969	rs_863224852	5 SubmittersRCV000197857 RCV001281644 RCV001248022
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	SNV Germline	Chr19:13303584	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Abnormality of the nervous system Familial hemiplegic migraine Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA10586394	rs_886037945	14 SubmittersRCV000255263 RCV000240888 RCV000623106 RCV001814128 RCV002274954 RCV000763034 RCV001380078 RCV002227102
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe)	SNV Germline	Chr19:13303591	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 CACNA1A-related complex neurodevelopmental disorder Lennox-Gastaut syndrome	Criteria Provided Conflicting Classifications	CA10603434	rs_886041654	3 SubmittersRCV000404656 RCV003765579 RCV005429010
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)	SNV Germline	Chr19:13208766	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases not specified Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239268	rs_755099305	6 SubmittersRCV000260147 RCV001044457 RCV004021263 RCV003235180 RCV005355609
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)	SNV Germline	Chr19:13235666	Likely pathogenic	Cerebellar ataxia Intellectual disability Cerebellar ataxia Cerebellar atrophy Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 CACNA1A-related disorder	Criteria Provided Single Submitter	CA16044236	rs_1057519429	4 SubmittersRCV000416438 RCV000556499 RCV002227158 RCV004725207
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	SNV Germline	Chr19:13262780	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Inborn genetic diseases Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA16607714	rs_1057520918	21 SubmittersRCV000435974 RCV000787277 RCV000763033 RCV001078138 RCV001251039 RCV000624902 RCV003333066 RCV002227161 RCV003223404
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)	SNV Germline	Chr19:13286829	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240384	rs_199512932	8 SubmittersRCV000559097 RCV001253187 RCV000996789 RCV002318451 RCV003224277 RCV003985339
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)	SNV Germline	Chr19:13224748	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified Inborn genetic diseases Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9239626	rs_201836062	8 SubmittersRCV000726584 RCV001088540 RCV001706630 RCV002318439 RCV003224276 RCV003985336
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)	SNV Germline	Chr19:13212448	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239469	rs_563345694	8 SubmittersRCV000541910 RCV000710970 RCV000764178 RCV003985342 RCV002356583
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)	SNV Germline	Chr19:13365421	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications	CA16608957	rs_1057522420	3 SubmittersRCV000418581 RCV001333788
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)	SNV Germline	Chr19:13209333	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9239341	rs_375354077	7 SubmittersRCV000732133 RCV001087818 RCV000764175 RCV002311805 RCV003985362
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)	SNV Germline	Chr19:13209372	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder not specified	Criteria Provided Conflicting Classifications	CA9239356	rs_554393704	7 SubmittersRCV000482338 RCV000764176 RCV001487619 RCV002367642 RCV003985361 RCV005431695
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)	SNV Germline	Chr19:13231717	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA16620778	rs_1064794261	7 SubmittersRCV000485872 RCV000853325 RCV001851179 RCV002227166
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)	SNV Germline	Chr19:13245205	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications	CA16620781	rs_1064795531	10 SubmittersRCV000480159 RCV001643203 RCV001856860 RCV002227168 RCV001264726 RCV001542801
NM_001127222.2(CACNA1A):c.4079C>A (p.Pro1360Gln)	SNV Germline	Chr19:13262744	Likely pathogenic	Condition: not provided Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA16620785	rs_1064795800	2 SubmittersRCV000479097 RCV005409657
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)	SNV Germline	Chr19:13262768	Pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA16620786	rs_1064794808	3 SubmittersRCV000486354 RCV000679938 RCV002227167 RCV003152605
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)	SNV Germline	Chr19:13299229	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications	CA9240557	rs_760816963	7 SubmittersRCV000481834 RCV001253380 RCV000703860 RCV002318582 RCV002489171
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr19:13307784	Pathogenic	Condition: not provided Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA16620796	rs_1064795856	2 SubmittersRCV000478900 RCV003228937
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)	SNV Germline	Chr19:13286646	Conflicting classifications of pathogenicity	Condition: not provided 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 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA9240329	rs_200333359	7 SubmittersRCV000494232 RCV000764180 RCV001212290 RCV004023314 RCV004999540
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)	SNV Germline	Chr19:13285126	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305563164	rs_201269793	4 SubmittersRCV000497966 RCV000764179 RCV001851379 RCV002318605
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)	SNV Germline	Chr19:13209407	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 not specified Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239365	rs_750077868	5 SubmittersRCV001302457 RCV000517121 RCV000764177 RCV004591458 RCV002316467
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)	SNV Germline	Chr19:13209441	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404331011	rs_1555730878	3 SubmittersRCV000522787 RCV002271522 RCV005625670
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)	SNV Germline	Chr19:13212680	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications	CA9239507	rs_751947412	6 SubmittersRCV001069420 RCV000658820 RCV001333785
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)	SNV Germline	Chr19:13245235	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 CACNA1A-related disorder Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404337971	rs_1555740805	6 SubmittersRCV000518921 RCV000624265 RCV001644622 RCV002227176 RCV003985374 RCV005625668
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)	SNV Germline	Chr19:13303585	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA404344180	rs_764839814	4 SubmittersRCV000519829 RCV001853632 RCV002227178 RCV003492089
NM_001127222.2(CACNA1A):c.2105-15C>T	SNV Germline	Chr19:13303628	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240625	rs_190471428	3 SubmittersRCV000520969 RCV000764183 RCV002060279
NM_001127222.2(CACNA1A):c.3090-5C>T	SNV Germline	Chr19:13286971	Conflicting classifications of pathogenicity	Condition: not provided 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, 42	Criteria Provided Conflicting Classifications	CA305564510	rs_976595665	3 SubmittersRCV000593263 RCV001462762 RCV002265814
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)	SNV Germline	Chr19:13235694	Pathogenic	Condition: not provided Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA404336960	rs_1555738369	6 SubmittersRCV000627239 RCV001542799 RCV002529808 RCV002468594 RCV004601224
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	SNV Germline	Chr19:13359749	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Epileptic encephalopathy Gait ataxia Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA404347323	rs_1555773764	10 SubmittersRCV000656726 RCV000991686 RCV001035721 RCV001849186 RCV002227194 RCV003230272 RCV003233795 RCV004025995
NM_001127222.2(CACNA1A):c.3692+1G>A	SNV Germline	Chr19:13285067	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404340821	rs_1315533129	10 SubmittersRCV000710953 RCV001264752 RCV001328546 RCV001197888 RCV003458325 RCV003768098
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr)	SNV Germline	Chr19:13262814	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA404340071	rs_1568473283	2 SubmittersRCV000755738 RCV004588163
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	SNV Germline	Chr19:13235684	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404336903	rs_1568447650	4 SubmittersRCV002227217 RCV001869248 RCV002535839 RCV003985429
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)	SNV Germline	Chr19:13455184	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Multiple Submitters No Conflicts	CA404967909	rs_1599294284	5 SubmittersRCV000793236 RCV001089748 RCV002290431 RCV003987706
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)	SNV Germline	Chr19:13308194	Likely pathogenic	Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404344874	rs_374686479	2 SubmittersRCV000853265 RCV003224808
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)	SNV Germline	Chr19:13312702	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404345355	rs_1427473572	2 SubmittersRCV001036072 RCV002227240
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)	SNV Germline	Chr19:13234922	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Hereditary episodic ataxia	Criteria Provided Conflicting Classifications	CA404335516	rs_1568446845	6 SubmittersRCV001204177 RCV001289289 RCV002463365 RCV005236682
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)	SNV Germline	Chr19:13317133	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240794	rs_375210532	4 SubmittersRCV001202706 RCV002484087 RCV001664748
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	SNV Germline	Chr19:13262771	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Condition: not provided Spinocerebellar ataxia type 6 Episodic ataxia type 2 CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404339986	rs_1555745467	9 SubmittersRCV001247687 RCV002272428 RCV003246815 RCV002227258 RCV003322872 RCV001542498 RCV005253767 RCV005232218
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)	SNV Germline	Chr19:13262795	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications	CA404340027	rs_2056767982	2 SubmittersRCV001253443 RCV002227259 RCV004762026
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)	SNV Germline	Chr19:13262759	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 52	Criteria Provided Multiple Submitters No Conflicts	CA404339960	rs_2056767062	2 SubmittersRCV001254122 RCV002227260
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	SNV Germline	Chr19:13308190	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA404344866	rs_2057947681	3 SubmittersRCV001290255 RCV001863157 RCV002227266
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)	SNV Germline	Chr19:13262759	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA404339961	rs_2056767062	4 SubmittersRCV002227269 RCV001296448 RCV003883173 RCV003145516
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)	SNV Germline	Chr19:13286653	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA9240335	rs_762006290	2 SubmittersRCV001315986 RCV002476470
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)	SNV Germline	Chr19:13359758	Pathogenic	Spinocerebellar ataxia type 6 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404347341	rs_2059069286	3 SubmittersRCV001328549 RCV002293523 RCV005213525
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)	SNV Germline	Chr19:13209470	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications	CA404331095	rs_1220294928	3 SubmittersRCV001371088 RCV003322889 RCV003444848 RCV004546643
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)	SNV Germline	Chr19:13452896	Likely pathogenic	Spinocerebellar ataxia type 6	No Assertion Criteria Provided	CA404967443	rs_2144936093	1 SubmittersRCV001542500
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)	SNV Unknown	Chr19:13299288	Likely pathogenic	Spinocerebellar ataxia type 6	No Assertion Criteria Provided	CA404343656	rs_1233611505	1 SubmittersRCV001849210
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	SNV Germline	Chr19:13231775	Pathogenic	Condition: not provided Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA404334539	rs_2144629622	2 SubmittersRCV001823375 RCV002227282
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)	SNV Germline	Chr19:13299322	Pathogenic	Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404343735	rs_2144958410	2 SubmittersRCV002227289 RCV001979015
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)	SNV Germline	Chr19:13230188	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404333756	rs_1296629000	3 SubmittersRCV001916764 RCV002227288 RCV005253939
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)	SNV Germline	Chr19:13359736	Conflicting classifications of pathogenicity	Inborn genetic diseases 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, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA404347296	rs_1212952550	4 SubmittersRCV002407156 RCV001996862 RCV002484767 RCV002563499
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)	SNV Germline	Chr19:13506095	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications	CA9241093	rs_201398669	2 SubmittersRCV002049964 RCV002478081
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)	SNV Germline	Chr19:13298641	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications	CA9240442	rs_781006387	3 SubmittersRCV001951627 RCV005241484 RCV002479592
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	SNV Germline	Chr19:13257421	Pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404338879	rs_886037946	2 SubmittersRCV002227402 RCV003774680
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)	SNV Germline	Chr19:13262792	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 CACNA1A-associated disorder Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA404340020	rs_2144773045	3 SubmittersRCV002227403 RCV003314034 RCV003234171
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)	SNV Germline	Chr19:13230193	Likely pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Single Submitter	CA404333764	rs_2144622461	1 SubmittersRCV002227404
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)	SNV Germline	Chr19:13275891	Likely pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Single Submitter	CA404340217	rs_2144833336	1 SubmittersRCV002227405
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)	SNV Germline	Chr19:13303581	Pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404344172	rs_2144979269	2 SubmittersRCV002227406 RCV003089220
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)	SNV Germline	Chr19:13303772	Likely pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Single Submitter	CA404344267	rs_2144980363	1 SubmittersRCV002227407
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)	SNV Germline	Chr19:13308183	Likely pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Single Submitter	CA404344850	rs_2145004155	1 SubmittersRCV002227409
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)	SNV Germline	Chr19:13365449	Likely pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Single Submitter	CA404348658	rs_2144523407	1 SubmittersRCV002227410
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)	SNV Germline	Chr19:13235222	Likely pathogenic	Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Single Submitter	CA404335825	rs_2144647872	1 SubmittersRCV002227411
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)	SNV Germline	Chr19:13308163	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6	Criteria Provided Single Submitter	CA404344803	rs_2145004096	1 SubmittersRCV002273848
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)	SNV Germline	Chr19:13308228	Pathogenic	Spinocerebellar ataxia type 6	No Assertion Criteria Provided	CA404344947	rs_2057948232	1 SubmittersRCV002508177
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)	SNV Germline	Chr19:13332887	Pathogenic	Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404346287	rs_2513041499	2 SubmittersRCV003228702 RCV003779827
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)	SNV Germline	Chr19:13231846	Likely pathogenic	Spinocerebellar ataxia type 6	Criteria Provided Single Submitter	CA404334897	rs_2512627196	1 SubmittersRCV003989026

NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)

SNV
Germline

Chr19:13303877

Pathogenic

Migraine, familial hemiplegic, 1
Migraine, sporadic hemiplegic, with progressive cerebellar ataxia
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Familial hemiplegic migraine
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Condition: not provided
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA119650

rs_121908212

20 SubmittersRCV000009009 RCV000009010 RCV000802118 RCV000504541 RCV001533159 RCV002051776 RCV002415406 RCV005025039 RCV000516650 RCV003233067

NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)

SNV
Germline

Chr19:13235702

Pathogenic/Likely pathogenic

Episodic ataxia type 2
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA254430

rs_121908216

15 SubmittersRCV000009017 RCV000517293 RCV001381850 RCV001542800

NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)

SNV
Germline

Chr19:13359707

Pathogenic/Likely pathogenic

Spinocerebellar ataxia type 6
Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254437

rs_121908215

4 SubmittersRCV000009018 RCV000009019 RCV001388786 RCV004700207

NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)

SNV
Germline

Chr19:13308452

Pathogenic

Migraine, familial hemiplegic, 1
Sporadic hemiplegic migraine
Spinocerebellar ataxia type 6
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Familial hemiplegic migraine
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 52
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA119653

rs_121908217

14 SubmittersRCV000009028 RCV000009029 RCV000009030 RCV000517519 RCV001380080 RCV001533158 RCV002227018 RCV004766989

NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)

SNV
Germline

Chr19:13255217

Pathogenic/Likely pathogenic

Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Inborn genetic diseases
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA254479

rs_121909324

9 SubmittersRCV000009032 RCV000763032 RCV000622947 RCV002466397 RCV002512927

NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)

SNV
Germline

Chr19:13235219

Pathogenic/Likely pathogenic

Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA254489

rs_121909326

6 SubmittersRCV000009035 RCV000009036 RCV000157056 RCV001804718 RCV001049766 RCV002345236 RCV002273923

NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)

SNV
Germline

Chr19:13262789

Pathogenic/Likely pathogenic

Migraine, familial hemiplegic, 1
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA254496

rs_121908230

9 SubmittersRCV000009039 RCV000516653 RCV005222676 RCV004795386 RCV004766990

NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)

SNV
Germline

Chr19:13235693

Pathogenic/Likely pathogenic

Spinocerebellar ataxia type 6
Chronic and progressive ataxia
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Condition: not provided
Enlarged cisterna magna
Global developmental delay
Ataxia _ Neurologic (child onset)
Non-progressive congenital cerebellar ataxia
Developmental and epileptic encephalopathy, 42
Neurodevelopmental delay
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA185906

rs_121908247

18 SubmittersRCV000059302 RCV000157057 RCV000653331 RCV000679889 RCV000406556 RCV000415457 RCV000755049 RCV003152591 RCV002273953 RCV002311540

NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)

SNV
Germline

Chr19:13209438

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Cerebellar ataxia
not specified
Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 6
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA266074

rs_121908235

13 SubmittersRCV000059310 RCV000653342 RCV000788079 RCV001174863 RCV000710089 RCV002362698 RCV001849176 RCV003319317

NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)

SNV
Germline

Chr19:13231774

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239759

rs_267605294

5 SubmittersRCV005025115 RCV005208125 RCV000692683 RCV001289290 RCV002345374

NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)

SNV
Germline

Chr19:13261526

Pathogenic/Likely pathogenic

Condition: not provided
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Migraine
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA242642

rs_794727411

20 SubmittersRCV000176622 RCV000662177 RCV000415108 RCV000623848 RCV000604986 RCV001061471 RCV000662178 RCV000662179 RCV000662176 RCV002227083 RCV004796069

NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)

SNV
Germline

Chr19:13371726

Conflicting classifications of pathogenicity

not specified
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA207980

rs_797045424

5 SubmittersRCV000194067 RCV000764184 RCV001289293 RCV003765213

NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)

SNV
Germline

Chr19:13359680

Pathogenic/Likely pathogenic

Episodic ataxia type 2
Spinocerebellar ataxia type 6
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA278969

rs_863224852

5 SubmittersRCV000197857 RCV001281644 RCV001248022

NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)

SNV
Germline

Chr19:13303584

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
Abnormality of the nervous system
Familial hemiplegic migraine
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 52
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA10586394

rs_886037945

14 SubmittersRCV000255263 RCV000240888 RCV000623106 RCV001814128 RCV002274954 RCV000763034 RCV001380078 RCV002227102

NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe)

SNV
Germline

Chr19:13303591

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Episodic ataxia type 2
CACNA1A-related complex neurodevelopmental disorder
Lennox-Gastaut syndrome

Criteria Provided
Conflicting Classifications

CA10603434

rs_886041654

3 SubmittersRCV000404656 RCV003765579 RCV005429010

NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)

SNV
Germline

Chr19:13208766

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
not specified
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA9239268

rs_755099305

6 SubmittersRCV000260147 RCV001044457 RCV004021263 RCV003235180 RCV005355609

NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)

SNV
Germline

Chr19:13235666

Likely pathogenic

Cerebellar ataxia
Intellectual disability
Cerebellar ataxia
Cerebellar atrophy
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
CACNA1A-related disorder

Criteria Provided
Single Submitter

CA16044236

rs_1057519429

4 SubmittersRCV000416438 RCV000556499 RCV002227158 RCV004725207

NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)

SNV
Germline

Chr19:13262780

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 42
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Inborn genetic diseases
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16607714

rs_1057520918

21 SubmittersRCV000435974 RCV000787277 RCV000763033 RCV001078138 RCV001251039 RCV000624902 RCV003333066 RCV002227161 RCV003223404

NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)

SNV
Germline

Chr19:13286829

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42
Condition: not provided
Inborn genetic diseases
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240384

rs_199512932

8 SubmittersRCV000559097 RCV001253187 RCV000996789 RCV002318451 RCV003224277 RCV003985339

NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)

SNV
Germline

Chr19:13224748

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
not specified
Inborn genetic diseases
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Migraine, familial hemiplegic, 1
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9239626

rs_201836062

8 SubmittersRCV000726584 RCV001088540 RCV001706630 RCV002318439 RCV003224276 RCV003985336

NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)

SNV
Germline

Chr19:13212448

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
CACNA1A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239469

rs_563345694

8 SubmittersRCV000541910 RCV000710970 RCV000764178 RCV003985342 RCV002356583

NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)

SNV
Germline

Chr19:13365421

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 6

Criteria Provided
Conflicting Classifications

CA16608957

rs_1057522420

3 SubmittersRCV000418581 RCV001333788

NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)

SNV
Germline

Chr19:13209333

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9239341

rs_375354077

7 SubmittersRCV000732133 RCV001087818 RCV000764175 RCV002311805 RCV003985362

NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)

SNV
Germline

Chr19:13209372

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9239356

rs_554393704

7 SubmittersRCV000482338 RCV000764176 RCV001487619 RCV002367642 RCV003985361 RCV005431695

NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)

SNV
Germline

Chr19:13231717

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16620778

rs_1064794261

7 SubmittersRCV000485872 RCV000853325 RCV001851179 RCV002227166

NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)

SNV
Germline

Chr19:13245205

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 52
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6

Criteria Provided
Conflicting Classifications

CA16620781

rs_1064795531

10 SubmittersRCV000480159 RCV001643203 RCV001856860 RCV002227168 RCV001264726 RCV001542801

NM_001127222.2(CACNA1A):c.4079C>A (p.Pro1360Gln)

SNV
Germline

Chr19:13262744

Likely pathogenic

Condition: not provided
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA16620785

rs_1064795800

2 SubmittersRCV000479097 RCV005409657

NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)

SNV
Germline

Chr19:13262768

Pathogenic

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA16620786

rs_1064794808

3 SubmittersRCV000486354 RCV000679938 RCV002227167 RCV003152605

NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)

SNV
Germline

Chr19:13299229

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1

Criteria Provided
Conflicting Classifications

CA9240557

rs_760816963

7 SubmittersRCV000481834 RCV001253380 RCV000703860 RCV002318582 RCV002489171

NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr19:13307784

Pathogenic

Condition: not provided
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16620796

rs_1064795856

2 SubmittersRCV000478900 RCV003228937

NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)

SNV
Germline

Chr19:13286646

Conflicting classifications of pathogenicity

Condition: not provided
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
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA9240329

rs_200333359

7 SubmittersRCV000494232 RCV000764180 RCV001212290 RCV004023314 RCV004999540

NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)

SNV
Germline

Chr19:13285126

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA305563164

rs_201269793

4 SubmittersRCV000497966 RCV000764179 RCV001851379 RCV002318605

NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)

SNV
Germline

Chr19:13209407

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
not specified
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239365

rs_750077868

5 SubmittersRCV001302457 RCV000517121 RCV000764177 RCV004591458 RCV002316467

NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)

SNV
Germline

Chr19:13209441

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404331011

rs_1555730878

3 SubmittersRCV000522787 RCV002271522 RCV005625670

NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)

SNV
Germline

Chr19:13212680

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
Spinocerebellar ataxia type 6

Criteria Provided
Conflicting Classifications

CA9239507

rs_751947412

6 SubmittersRCV001069420 RCV000658820 RCV001333785

NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)

SNV
Germline

Chr19:13245235

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
CACNA1A-related disorder
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404337971

rs_1555740805

6 SubmittersRCV000518921 RCV000624265 RCV001644622 RCV002227176 RCV003985374 RCV005625668

NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)

SNV
Germline

Chr19:13303585

Pathogenic/Likely pathogenic

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA404344180

rs_764839814

4 SubmittersRCV000519829 RCV001853632 RCV002227178 RCV003492089

NM_001127222.2(CACNA1A):c.2105-15C>T

SNV
Germline

Chr19:13303628

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA9240625

rs_190471428

3 SubmittersRCV000520969 RCV000764183 RCV002060279

NM_001127222.2(CACNA1A):c.3090-5C>T

SNV
Germline

Chr19:13286971

Conflicting classifications of pathogenicity

Condition: not provided
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, 42

Criteria Provided
Conflicting Classifications

CA305564510

rs_976595665

3 SubmittersRCV000593263 RCV001462762 RCV002265814

NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)

SNV
Germline

Chr19:13235694

Pathogenic

Condition: not provided
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA404336960

rs_1555738369

6 SubmittersRCV000627239 RCV001542799 RCV002529808 RCV002468594 RCV004601224

NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)

SNV
Germline

Chr19:13359749

Pathogenic/Likely pathogenic

Episodic ataxia type 2
Epileptic encephalopathy
Gait ataxia
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA404347323

rs_1555773764

10 SubmittersRCV000656726 RCV000991686 RCV001035721 RCV001849186 RCV002227194 RCV003230272 RCV003233795 RCV004025995

NM_001127222.2(CACNA1A):c.3692+1G>A

SNV
Germline

Chr19:13285067

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404340821

rs_1315533129

10 SubmittersRCV000710953 RCV001264752 RCV001328546 RCV001197888 RCV003458325 RCV003768098

NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr)

SNV
Germline

Chr19:13262814

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA404340071

rs_1568473283

2 SubmittersRCV000755738 RCV004588163

NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)

SNV
Germline

Chr19:13235684

Pathogenic/Likely pathogenic

Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404336903

rs_1568447650

4 SubmittersRCV002227217 RCV001869248 RCV002535839 RCV003985429

NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)

SNV
Germline

Chr19:13455184

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404967909

rs_1599294284

5 SubmittersRCV000793236 RCV001089748 RCV002290431 RCV003987706

NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)

SNV
Germline

Chr19:13308194

Likely pathogenic

Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404344874

rs_374686479

2 SubmittersRCV000853265 RCV003224808

NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)

SNV
Germline

Chr19:13312702

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Migraine, familial hemiplegic, 1
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404345355

rs_1427473572

2 SubmittersRCV001036072 RCV002227240

NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)

SNV
Germline

Chr19:13234922

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Hereditary episodic ataxia

Criteria Provided
Conflicting Classifications

CA404335516

rs_1568446845

6 SubmittersRCV001204177 RCV001289289 RCV002463365 RCV005236682

NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)

SNV
Germline

Chr19:13317133

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9240794

rs_375210532

4 SubmittersRCV001202706 RCV002484087 RCV001664748

NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)

SNV
Germline

Chr19:13262771

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Condition: not provided
Spinocerebellar ataxia type 6
Episodic ataxia type 2
CACNA1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404339986

rs_1555745467

9 SubmittersRCV001247687 RCV002272428 RCV003246815 RCV002227258 RCV003322872 RCV001542498 RCV005253767 RCV005232218

NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)

SNV
Germline

Chr19:13262795

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

CA404340027

rs_2056767982

2 SubmittersRCV001253443 RCV002227259 RCV004762026

NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)

SNV
Germline

Chr19:13262759

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 52

Criteria Provided
Multiple Submitters
No Conflicts

CA404339960

rs_2056767062

2 SubmittersRCV001254122 RCV002227260

NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)

SNV
Germline

Chr19:13308190

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA404344866

rs_2057947681

3 SubmittersRCV001290255 RCV001863157 RCV002227266

NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)

SNV
Germline

Chr19:13262759

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA404339961

rs_2056767062

4 SubmittersRCV002227269 RCV001296448 RCV003883173 RCV003145516

NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)

SNV
Germline

Chr19:13286653

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240335

rs_762006290

2 SubmittersRCV001315986 RCV002476470

NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)

SNV
Germline

Chr19:13359758

Pathogenic

Spinocerebellar ataxia type 6
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404347341

rs_2059069286

3 SubmittersRCV001328549 RCV002293523 RCV005213525

NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)

SNV
Germline

Chr19:13209470

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Condition: not provided
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Conflicting Classifications

CA404331095

rs_1220294928

3 SubmittersRCV001371088 RCV003322889 RCV003444848 RCV004546643

NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)

SNV
Germline

Chr19:13452896

Likely pathogenic

Spinocerebellar ataxia type 6

No Assertion Criteria Provided

CA404967443

rs_2144936093

1 SubmittersRCV001542500

NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)

SNV
Unknown

Chr19:13299288

Likely pathogenic

Spinocerebellar ataxia type 6

No Assertion Criteria Provided

CA404343656

rs_1233611505

1 SubmittersRCV001849210

NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)

SNV
Germline

Chr19:13231775

Pathogenic

Condition: not provided
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 52
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA404334539

rs_2144629622

2 SubmittersRCV001823375 RCV002227282

NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)

SNV
Germline

Chr19:13299322

Pathogenic

Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 52
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404343735

rs_2144958410

2 SubmittersRCV002227289 RCV001979015

NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)

SNV
Germline

Chr19:13230188

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 52
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404333756

rs_1296629000

3 SubmittersRCV001916764 RCV002227288 RCV005253939

NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)

SNV
Germline

Chr19:13359736

Conflicting classifications of pathogenicity

Inborn genetic diseases
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, 42
Condition: not provided

Criteria Provided
Conflicting Classifications

CA404347296

rs_1212952550

4 SubmittersRCV002407156 RCV001996862 RCV002484767 RCV002563499

NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)

SNV
Germline

Chr19:13506095

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Spinocerebellar ataxia type 6

Criteria Provided
Conflicting Classifications

CA9241093

rs_201398669

2 SubmittersRCV002049964 RCV002478081

NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)

SNV
Germline

Chr19:13298641

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1

Criteria Provided
Conflicting Classifications

CA9240442

rs_781006387

3 SubmittersRCV001951627 RCV005241484 RCV002479592

NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)

SNV
Germline

Chr19:13257421

Pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404338879

rs_886037946

2 SubmittersRCV002227402 RCV003774680

NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)

SNV
Germline

Chr19:13262792

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
CACNA1A-associated disorder
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA404340020

rs_2144773045

3 SubmittersRCV002227403 RCV003314034 RCV003234171

NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)

SNV
Germline

Chr19:13230193

Likely pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

CA404333764

rs_2144622461

1 SubmittersRCV002227404

NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)

SNV
Germline

Chr19:13275891

Likely pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

CA404340217

rs_2144833336

1 SubmittersRCV002227405

NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)

SNV
Germline

Chr19:13303581

Pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404344172

rs_2144979269

2 SubmittersRCV002227406 RCV003089220

NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)

SNV
Germline

Chr19:13303772

Likely pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

CA404344267

rs_2144980363

1 SubmittersRCV002227407

NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)

SNV
Germline

Chr19:13308183

Likely pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

CA404344850

rs_2145004155

1 SubmittersRCV002227409

NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)

SNV
Germline

Chr19:13365449

Likely pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

CA404348658

rs_2144523407

1 SubmittersRCV002227410

NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)

SNV
Germline

Chr19:13235222

Likely pathogenic

Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

CA404335825

rs_2144647872

1 SubmittersRCV002227411

NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)

SNV
Germline

Chr19:13308163

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

CA404344803

rs_2145004096

1 SubmittersRCV002273848

NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)

SNV
Germline

Chr19:13308228

Pathogenic

Spinocerebellar ataxia type 6

No Assertion Criteria Provided

CA404344947

rs_2057948232

1 SubmittersRCV002508177

NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)

SNV
Germline

Chr19:13332887

Pathogenic

Episodic ataxia type 2
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404346287

rs_2513041499

2 SubmittersRCV003228702 RCV003779827

NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)

SNV
Germline

Chr19:13231846

Likely pathogenic

Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

CA404334897

rs_2512627196

1 SubmittersRCV003989026