Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)	SNV Germline	Chr2:151880879	Conflicting classifications of pathogenicity	Epilepsy, idiopathic generalized, susceptibility to, 9 Episodic ataxia type 5 Condition: not provided Juvenile myoclonic epilepsy Idiopathic generalized epilepsy CACNB4-related disorder	Criteria Provided Conflicting Classifications	CA118923	rs_1805031	10 SubmittersRCV000008046 RCV000008047 RCV000487686 RCV000298698 RCV001081010 RCV004532307
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)	SNV Germline	Chr19:13371744	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Familial hemiplegic migraine Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254415	rs_121908211	6 SubmittersRCV000009008 RCV002512926 RCV001533156 RCV003231095
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.5425A>C (p.Ile1809Leu)	SNV Germline	Chr19:13230185	Pathogenic	Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Familial hemiplegic migraine Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254421	rs_121908214	5 SubmittersRCV000009012 RCV001390440 RCV001533163 RCV004791199
NM_001127222.2(CACNA1A):c.3989+1G>A	SNV Germline	Chr19:13275849	Pathogenic	Episodic ataxia type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254429	rs_587776693	4 SubmittersRCV000009014 RCV001781208
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.4466T>C (p.Phe1489Ser)	SNV Germline	Chr19:13257474	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA254443	rs_121908233	3 SubmittersRCV000009021
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys)	SNV Germline	Chr19:13231847	Pathogenic	Episodic ataxia type 2	No Assertion Criteria Provided	CA254457	rs_121908226	2 SubmittersRCV000009023
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)	SNV Germline	Chr19:13365448	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Condition: not provided Familial hemiplegic migraine Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA254473	rs_121908225	10 SubmittersRCV000009027 RCV000502832 RCV002272012 RCV001533157 RCV001390632 RCV003150928
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.3829C>T (p.Arg1277Ter)	SNV Germline	Chr19:13277122	Pathogenic	Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA254476	rs_121909323	5 SubmittersRCV000009031 RCV001851752 RCV004700208 RCV004786248
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.4205T>G (p.Phe1402Cys)	SNV Germline	Chr19:13261495	Pathogenic	Episodic ataxia type 2	No Assertion Criteria Provided	CA254482	rs_121908227	2 SubmittersRCV000009033
NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter)	SNV Germline	Chr19:13230158	Pathogenic	Episodic ataxia, type 2, and epilepsy Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA119656	rs_267606696	3 SubmittersRCV000009034 RCV001836705 RCV005222675
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.860G>A (p.Cys287Tyr)	SNV Germline	Chr19:13359724	Pathogenic	Episodic ataxia type 2	No Assertion Criteria Provided	CA254492	rs_121908236	2 SubmittersRCV000009037
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_004172.5(SLC1A3):c.869C>G (p.Pro290Arg)	SNV Germline	Chr5:36679635	Pathogenic	Episodic ataxia type 6	No Assertion Criteria Provided	CA254816	rs_137852619	1 SubmittersRCV000010048
NM_004172.5(SLC1A3):c.556T>A (p.Cys186Ser)	SNV Germline	Chr5:36674080	Pathogenic	Episodic ataxia type 6	No Assertion Criteria Provided	CA254817	rs_137852620	1 SubmittersRCV000010049
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)	SNV Germline	Chr2:165344666	Pathogenic/Likely pathogenic	Seizures, benign familial infantile, 3 Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11	Criteria Provided Multiple Submitters No Conflicts	CA122770	rs_121917751	9 SubmittersRCV000013738 RCV000189121 RCV000527590 RCV003224096 RCV005208119
NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala)	SNV Germline	Chr12:4912601	Pathogenic	Episodic ataxia type 1	No Assertion Criteria Provided	CA341286	rs_104894352	2 SubmittersRCV000014424
NM_000217.3(KCNA1):c.715C>A (p.Arg239Ser)	SNV Germline	Chr12:4912093	Pathogenic	Episodic ataxia type 1	No Assertion Criteria Provided	CA256875	rs_104894348	1 SubmittersRCV000014425
NM_000217.3(KCNA1):c.520G>T (p.Val174Phe)	SNV Germline	Chr12:4911898	Pathogenic	Episodic ataxia type 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA256876	rs_104894349	3 SubmittersRCV000014426 RCV001265691
NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile)	SNV Germline	Chr12:4912123	Pathogenic	Episodic ataxia type 1	Criteria Provided Single Submitter	CA256877	rs_104894356	2 SubmittersRCV000014427
NM_000217.3(KCNA1):c.551T>G (p.Phe184Cys)	SNV Germline	Chr12:4911929	Pathogenic	Episodic ataxia type 1	No Assertion Criteria Provided	CA256878	rs_104894357	1 SubmittersRCV000014428
NM_000217.3(KCNA1):c.975G>C (p.Glu325Asp)	SNV Germline	Chr12:4912353	Pathogenic	Episodic ataxia type 1	No Assertion Criteria Provided	CA256879	rs_104894353	1 SubmittersRCV000014429
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala)	SNV Germline	Chr12:4912054	Pathogenic	Episodic ataxia type 1 Condition: not provided	Criteria Provided Single Submitter	CA341287	rs_104894354	3 SubmittersRCV000014430 RCV003221784
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)	SNV Germline	Chr12:4912588	Pathogenic	Episodic ataxia type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256880	rs_104894355	5 SubmittersRCV000014431 RCV002509157
NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn)	SNV Germline	Chr12:4911908	Pathogenic	Episodic ataxia type 1	No Assertion Criteria Provided	CA256881	rs_267607195	1 SubmittersRCV000014432
NM_000217.3(KCNA1):c.1249C>T (p.Arg417Ter)	SNV Germline	Chr12:4912627	Pathogenic	Episodic ataxia type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341288	rs_104894358	3 SubmittersRCV000014435 RCV005621850
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg)	SNV Germline	Chr12:4912055	Pathogenic	Episodic ataxia type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341290	rs_28933383	5 SubmittersRCV000014436 RCV001785451
NM_000217.3(KCNA1):c.677C>T (p.Thr226Met)	SNV Germline	Chr12:4912055	Pathogenic	Episodic ataxia type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341655	rs_28933383	3 SubmittersRCV000020219 RCV004786276
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)	SNV Germline	Chr2:165297053	Pathogenic	Developmental and epileptic encephalopathy, 11 Complex neurodevelopmental disorder Episodic ataxia, type 9 Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3	Criteria Provided Multiple Submitters No Conflicts	CA128706	rs_387906683	8 SubmittersRCV000022766 RCV001265266 RCV003987329 RCV000713071 RCV003764629
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SNV Germline	Chr2:165310413	Pathogenic	Episodic ataxia, type 9 Seizures, benign familial infantile, 3 Epileptic encephalopathy Condition: not provided Developmental and epileptic encephalopathy, 11 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Complex neurodevelopmental disorder Infantile spasms SCN2A-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA128711	rs_387906686	20 SubmittersRCV000022769 RCV000118251 RCV000416960 RCV000189193 RCV001200935 RCV001035869 RCV001265272 RCV003155911 RCV003985263 RCV004955258
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)	SNV Germline	Chr19:13317168	Pathogenic	Episodic ataxia type 2 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Hereditary episodic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA266034	rs_121908240	6 SubmittersRCV000059291 RCV001092223 RCV002513778 RCV003398649
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)	SNV Germline	Chr19:13298946	Conflicting classifications of pathogenicity	Episodic ataxia type 2 not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA233571	rs_121908242	10 SubmittersRCV000059295 RCV000152897 RCV000513873 RCV001080277 RCV002426621 RCV003985266
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.4996C>T (p.Arg1666Trp)	SNV Germline	Chr19:13235685	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 1 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA266053	rs_121908220	5 SubmittersRCV000059303 RCV000991674 RCV005222736
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)	SNV Germline	Chr19:13235649	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266056	rs_121908243	5 SubmittersRCV001212963 RCV000059304 RCV003144120
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys)	SNV Germline	Chr19:13371735	Pathogenic	Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA266071	rs_121908222	2 SubmittersRCV000059309 RCV002514302
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.757C>T (p.His253Tyr)	SNV Germline	Chr19:13365344	Likely pathogenic	Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA266080	rs_121908228	3 SubmittersRCV000059312 RCV001215900
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.1623G>A (p.Gly541=)	SNV Germline	Chr19:13312714	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA221491	rs_375628894	7 SubmittersRCV000079476 RCV000723660 RCV002313755 RCV001083894 RCV003985267
NM_001127222.2(CACNA1A):c.1038C>T (p.Ile346=)	SNV Germline	Chr19:13335850	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA230928	rs_527246699	2 SubmittersRCV000116513 RCV005222755
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)	SNV Germline	Chr2:165313994	Conflicting classifications of pathogenicity	Condition: not provided Seizures, benign familial infantile, 3 not specified Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA289013	rs_139815570	7 SubmittersRCV000118245 RCV000267564 RCV000212987 RCV001079874 RCV003224154 RCV002312490
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)	SNV Germline	Chr19:13209344	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233565	rs_727503832	6 SubmittersRCV000693394 RCV000723815 RCV002362804
NM_001127222.2(CACNA1A):c.631+5G>A	SNV Germline	Chr19:13371683	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA274488	rs_786200963	9 SubmittersRCV000169641 RCV001052102 RCV000996802 RCV003985284
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)	SNV Germline	Chr13:101083752	Pathogenic/Likely pathogenic	Intellectual disability with episodic ataxia and congenital arthrogryposis Congenital contractures of the limbs and face, hypotonia, and developmental delay Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212642	rs_786201003	9 SubmittersRCV000167764 RCV000224736 RCV001267339 RCV001390781
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)	SNV Germline	Chr2:152099007	Conflicting classifications of pathogenicity	Juvenile myoclonic epilepsy not specified Epilepsy, idiopathic generalized, susceptibility to, 9 Idiopathic generalized epilepsy CACNB4-related disorder Episodic ataxia type 5 Epilepsy, idiopathic generalized, susceptibility to, 9 Episodic ataxia type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA209568	rs_200092211	12 SubmittersRCV000341315 RCV000195021 RCV000660363 RCV001079683 RCV004535183 RCV000286296 RCV000515346 RCV000724000
NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=)	SNV Germline	Chr19:13506066	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA238677	rs_767892925	2 SubmittersRCV000173215 RCV001466366
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	SNV Germline	Chr19:13298593	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Intellectual disability CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA241161	rs_16024	15 SubmittersRCV000175409 RCV000210670 RCV000432960 RCV000660566 RCV001080527 RCV001251922 RCV003985285
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)	SNV Germline	Chr19:13286620	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA241908	rs_376365775	5 SubmittersRCV000176046 RCV000724751 RCV001048020
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)	SNV Germline	Chr19:13286747	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA241914	rs_374749004	6 SubmittersRCV000723917 RCV001080024 RCV000176048 RCV002453620
NM_001127222.2(CACNA1A):c.3822+1G>A	SNV Germline	Chr19:13283266	Pathogenic	Condition: not provided Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA275109	rs_794727355	7 SubmittersRCV000176279 RCV001266258 RCV001852172 RCV003152690 RCV003233483
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.5014C>T (p.Arg1672Cys)	SNV Germline	Chr19:13235667	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA244130	rs_794727558	3 SubmittersRCV000177634 RCV001852195 RCV002298504
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)	SNV Germline	Chr19:13224713	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA244920	rs_757291476	6 SubmittersRCV000724441 RCV001089248 RCV002317042 RCV003985288
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)	SNV Germline	Chr19:13209440	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA245719	rs_779044548	5 SubmittersRCV000178567 RCV000816451 RCV004965299 RCV004734795
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)	SNV Germline	Chr2:151839327	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic generalized epilepsy Epilepsy, idiopathic generalized, susceptibility to, 9 Episodic ataxia type 5	Criteria Provided Conflicting Classifications	CA313397	rs_762394421	4 SubmittersRCV000186839 RCV000459626 RCV003233493
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)	SNV Germline	Chr2:152098968	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 5 Juvenile myoclonic epilepsy Idiopathic generalized epilepsy Epilepsy, idiopathic generalized, susceptibility to, 9 Episodic ataxia type 5 Condition: not provided CACNB4-related disorder	Criteria Provided Conflicting Classifications	CA313404	rs_200662010	10 SubmittersRCV000186843 RCV000271279 RCV000384411 RCV000471900 RCV000515246 RCV002054189 RCV004537572
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)	SNV Germline	Chr2:152099004	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 5 Idiopathic generalized epilepsy Juvenile myoclonic epilepsy not specified	Criteria Provided Conflicting Classifications	CA313402	rs_542973906	6 SubmittersRCV000186842 RCV000376086 RCV000526121 RCV000321619 RCV004020261
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)	SNV Germline	Chr2:165344688	Conflicting classifications of pathogenicity	Condition: not provided Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11	Criteria Provided Conflicting Classifications	CA317895	rs_796053121	3 SubmittersRCV001721217 RCV001852499 RCV002492872
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)	SNV Germline	Chr2:165354232	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizure Hereditary episodic ataxia Vertigo Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA209995	rs_796053124	4 SubmittersRCV000189127 RCV000195526 RCV000417104 RCV002433854
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)	SNV Germline	Chr2:165365200	Conflicting classifications of pathogenicity	not specified Seizures, benign familial infantile, 3 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Self-limited epilepsy with centrotemporal spikes Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9 SCN2A-related disorder	Criteria Provided Conflicting Classifications	CA317927	rs_200138205	11 SubmittersRCV000189136 RCV000302248 RCV000463410 RCV000655981 RCV000725887 RCV001329197 RCV003224211 RCV003985294
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val)	SNV Germline	Chr2:165365228	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia, type 9 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11	Criteria Provided Conflicting Classifications	CA317930	rs_201124054	3 SubmittersRCV000189137 RCV002288794 RCV000795173
NM_001040142.2(SCN2A):c.4901G>A (p.Gly1634Asp)	SNV Germline	Chr2:165388707	Pathogenic	Episodic ataxia, type 9	No Assertion Criteria Provided	CA318024	rs_1553463427	1 SubmittersRCV001200928
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_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)	SNV Germline	Chr5:36686136	Conflicting classifications of pathogenicity	Episodic ataxia type 6 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3235696	rs_138085358	8 SubmittersRCV000234998 RCV000500491 RCV000727383
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.6473G>A (p.Arg2158His)	SNV Germline	Chr19:13209365	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239352	rs_375859889	2 SubmittersRCV000254914 RCV001318521
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)	SNV Germline	Chr19:13286701	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240354	rs_199745070	6 SubmittersRCV000726478 RCV001088856 RCV004999189 RCV002321939
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter)	SNV Germline	Chr19:13317307	Pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA10588685	rs_886039668	3 SubmittersRCV000256093 RCV001383649
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg)	SNV Germline	Chr19:13261598	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA10603345	rs_886041909	2 SubmittersRCV000317331 RCV000802158
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_000217.3(KCNA1):c.144C>T (p.Phe48=)	SNV Germline	Chr12:4911522	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA10604074	rs_886042316	2 SubmittersRCV000286605 RCV002521876
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)	SNV Germline	Chr2:165389558	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Inborn genetic diseases SCN2A-related disorder Complex neurodevelopmental disorder Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9	Criteria Provided Conflicting Classifications	CA1940421	rs_139899756	9 SubmittersRCV000509344 RCV001034485 RCV002317801 RCV003985312 RCV001265283 RCV003224250
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)	SNV Germline	Chr19:13212149	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239420	rs_765051582	5 SubmittersRCV000344424 RCV001040372 RCV004734922 RCV004965367
NM_001127222.2(CACNA1A):c.5133+10G>A	SNV Germline	Chr19:13235199	Conflicting classifications of pathogenicity	not specified Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239826	rs_369033909	3 SubmittersRCV000333600 RCV000725222 RCV001080437
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)	SNV Germline	Chr19:13259662	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240038	rs_555959123	3 SubmittersRCV000367118 RCV003105846
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)	SNV Germline	Chr19:13261479	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240062	rs_201200430	7 SubmittersRCV000274808 RCV000725223 RCV001085613 RCV003985313 RCV002314000
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)	SNV Germline	Chr19:13286525	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240294	rs_184723350	5 SubmittersRCV000374998 RCV001083052 RCV000725282 RCV002338835
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)	SNV Germline	Chr19:13224746	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239625	rs_17846921	4 SubmittersRCV000725399 RCV001080386 RCV002317808
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)	SNV Germline	Chr19:13298957	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240504	rs_780515850	5 SubmittersRCV000725442 RCV001085198 RCV002429219 RCV003985314
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)	SNV Germline	Chr19:13332891	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240874	rs_764453012	3 SubmittersRCV000334292 RCV001454207
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)	SNV Germline	Chr19:13235000	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239805	rs_371595464	4 SubmittersRCV000725882 RCV001069865
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)	SNV Germline	Chr19:13285142	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240256	rs_201236364	10 SubmittersRCV000351406 RCV001087304 RCV003985316 RCV000415907 RCV002450820
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)	SNV Germline	Chr19:13212507	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA10605673	rs_886043571	2 SubmittersRCV000406663 RCV001439136
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)	SNV Germline	Chr19:13231794	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10605746	rs_886043622	4 SubmittersRCV000291792 RCV001441403 RCV001660551 RCV002348012
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)	SNV Germline	Chr19:13317278	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA10605791	rs_886043657	2 SubmittersRCV000269310 RCV001088343
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)	SNV Germline	Chr19:13317272	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240820	rs_374307014	6 SubmittersRCV000290103 RCV000726034 RCV001086862 RCV002317818
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.978+9T>C	SNV Germline	Chr19:13359597	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240940	rs_111366222	4 SubmittersRCV000357921 RCV000726240 RCV001087586 RCV003985318
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)	SNV Germline	Chr19:13209374	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239357	rs_572722130	8 SubmittersRCV000345600 RCV000726322 RCV000556625 RCV004734944 RCV002314030
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=)	SNV Germline	Chr19:13455176	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9241062	rs_375486960	2 SubmittersRCV000291104 RCV001441087
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)	SNV Germline	Chr19:13286531	Conflicting classifications of pathogenicity	Condition: not provided CACNA1A-related disorder Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA10606760	rs_886044439	3 SubmittersRCV000320967 RCV003985320 RCV001458213
NM_000217.3(KCNA1):c.611G>A (p.Arg204His)	SNV Germline	Chr12:4911989	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA6399405	rs_2229000	3 SubmittersRCV000358778 RCV001088859
NM_000726.5(CACNB4):c.*5433A>G	SNV Germline	Chr2:151833686	Conflicting classifications of pathogenicity	Juvenile myoclonic epilepsy Episodic ataxia type 5	Criteria Provided Conflicting Classifications	CA10610982	rs_563567053	1 SubmittersRCV000350046 RCV000396360
NM_000726.5(CACNB4):c.*4081G>A	SNV Germline	Chr2:151835038	Conflicting classifications of pathogenicity	Episodic ataxia type 5 Juvenile myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA10610998	rs_148903851	1 SubmittersRCV000327366 RCV000381909
NM_000726.5(CACNB4):c.*624A>T	SNV Germline	Chr2:151838495	Conflicting classifications of pathogenicity	Episodic ataxia type 5 Juvenile myoclonic epilepsy Condition: not provided	Criteria Provided Conflicting Classifications	CA10611040	rs_755272601	2 SubmittersRCV000306401 RCV000363450 RCV002274985
NM_000726.5(CACNB4):c.*4131A>G	SNV Germline	Chr2:151834988	Conflicting classifications of pathogenicity	Juvenile myoclonic epilepsy Episodic ataxia type 5	Criteria Provided Conflicting Classifications	CA10611379	rs_373381936	1 SubmittersRCV000291139 RCV000386227
NM_000726.5(CACNB4):c.*3668T>C	SNV Germline	Chr2:151835451	Conflicting classifications of pathogenicity	Episodic ataxia type 5 Juvenile myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA10611381	rs_543493236	1 SubmittersRCV000340073 RCV000396193
NM_000726.5(CACNB4):c.*2188T>G	SNV Germline	Chr2:151836931	Conflicting classifications of pathogenicity	Juvenile myoclonic epilepsy Episodic ataxia type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10611390	rs_548234328	2 SubmittersRCV000324254 RCV000360268 RCV003430835
NM_000726.5(CACNB4):c.*737C>T	SNV Germline	Chr2:151838382	Conflicting classifications of pathogenicity	Episodic ataxia type 5 Juvenile myoclonic epilepsy Condition: not provided	Criteria Provided Conflicting Classifications	CA10611413	rs_558590558	2 SubmittersRCV000312395 RCV000406529 RCV003311762
NM_000726.5(CACNB4):c.*6183A>G	SNV Germline	Chr2:151832936	Conflicting classifications of pathogenicity	Episodic ataxia type 5 Juvenile myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA10612315	rs_185830609	1 SubmittersRCV000315311 RCV000353759
NM_000726.5(CACNB4):c.*5022A>G	SNV Germline	Chr2:151834097	Conflicting classifications of pathogenicity	Episodic ataxia type 5 Juvenile myoclonic epilepsy Condition: not provided	Criteria Provided Conflicting Classifications	CA10612506	rs_548177540	2 SubmittersRCV000278076 RCV000372614 RCV003430834
NM_000726.5(CACNB4):c.*3475A>T	SNV Germline	Chr2:151835644	Conflicting classifications of pathogenicity	Juvenile myoclonic epilepsy Episodic ataxia type 5	Criteria Provided Conflicting Classifications	CA10612547	rs_567549082	1 SubmittersRCV000354973 RCV000300093
NM_000726.5(CACNB4):c.*1110C>A	SNV Germline	Chr2:151838009	Conflicting classifications of pathogenicity	Juvenile myoclonic epilepsy Episodic ataxia type 5	Criteria Provided Conflicting Classifications	CA10612585	rs_147608603	1 SubmittersRCV000274937 RCV000327764
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=)	SNV Germline	Chr2:165377602	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Seizures, benign familial infantile, 3	Criteria Provided Conflicting Classifications	CA1940250	rs_138241682	3 SubmittersRCV002057578 RCV003224263 RCV000374111
NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln)	SNV Germline	Chr5:36629495	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA3235398	rs_148490778	2 SubmittersRCV000340195 RCV002472994
NM_004172.5(SLC1A3):c.825C>T (p.Asn275=)	SNV Germline	Chr5:36677149	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA3235541	rs_201765665	2 SubmittersRCV000398221 RCV002058529
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr)	SNV Germline	Chr5:36679751	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3235588	rs_200243548	4 SubmittersRCV000298676 RCV000927291 RCV001662328
NM_004172.5(SLC1A3):c.1284A>C (p.Thr428=)	SNV Germline	Chr5:36680584	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA3235636	rs_200947079	3 SubmittersRCV000378138 RCV003430907
NM_004172.5(SLC1A3):c.*761G>A	SNV Germline	Chr5:36687030	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10621705	rs_182371422	2 SubmittersRCV000358018 RCV003430908
NM_004172.5(SLC1A3):c.*1206G>A	SNV Germline	Chr5:36687475	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10621710	rs_530235885	2 SubmittersRCV000292416 RCV003221954
NM_004172.5(SLC1A3):c.79C>T (p.Leu27Phe)	SNV Germline	Chr5:36608502	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA3235322	rs_146939026	2 SubmittersRCV000315656 RCV002520369
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)	SNV Germline	Chr12:4912842	Conflicting classifications of pathogenicity	Hereditary episodic ataxia Episodic ataxia type 1 KCNA1-related disorder not specified	Criteria Provided Conflicting Classifications	CA6399516	rs_147828649	4 SubmittersRCV000320846 RCV000531086 RCV004549669 RCV004586677
NM_000217.3(KCNA1):c.*1469G>A	SNV Germline	Chr12:4914335	Conflicting classifications of pathogenicity	Hereditary episodic ataxia Episodic ataxia type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10632972	rs_536746031	2 SubmittersRCV000285843 RCV000324447 RCV002262965
NM_000217.3(KCNA1):c.*592C>A	SNV Germline	Chr12:4913458	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Myokymia	Criteria Provided Conflicting Classifications	CA10637699	rs_144000949	1 SubmittersRCV000277526 RCV000388642
NM_000217.3(KCNA1):c.*2245C>G	SNV Germline	Chr12:4915111	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Hereditary episodic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA10637709	rs_76258625	2 SubmittersRCV000293908 RCV000337229 RCV002510844
NM_000217.3(KCNA1):c.*5212C>T	SNV Germline	Chr12:4918078	Conflicting classifications of pathogenicity	Hereditary episodic ataxia Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA10637747	rs_139521962	1 SubmittersRCV000308858 RCV000402044
NM_000217.3(KCNA1):c.*1308C>T	SNV Germline	Chr12:4914174	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Hereditary episodic ataxia	Criteria Provided Conflicting Classifications	CA10641557	rs_575443810	1 SubmittersRCV000273627 RCV000330999
NM_000217.3(KCNA1):c.*2987G>A	SNV Germline	Chr12:4915853	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Hereditary episodic ataxia	Criteria Provided Conflicting Classifications	CA10641592	rs_547570693	1 SubmittersRCV000390883 RCV000345331
NM_000217.3(KCNA1):c.*3588T>C	SNV Germline	Chr12:4916454	Conflicting classifications of pathogenicity	Hereditary episodic ataxia Episodic ataxia type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10641594	rs_535813845	2 SubmittersRCV000294129 RCV000400828 RCV003326403
NM_000217.3(KCNA1):c.-157T>A	SNV Germline	Chr12:4911222	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Hereditary episodic ataxia	Criteria Provided Conflicting Classifications	CA10642489	rs_534276633	1 SubmittersRCV000307305 RCV000390912
NM_000217.3(KCNA1):c.*4957C>A	SNV Germline	Chr12:4917823	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Hereditary episodic ataxia	Criteria Provided Conflicting Classifications	CA10642553	rs_549454829	1 SubmittersRCV000306951 RCV000366237
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg)	SNV Germline	Chr19:13299150	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240545	rs_753196787	2 SubmittersRCV000414678 RCV001861436
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)	SNV Germline	Chr19:13212736	Conflicting classifications of pathogenicity	not specified Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239519	rs_745775887	5 SubmittersRCV000413632 RCV000727526 RCV000791501 RCV002524653 RCV002275037
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)	SNV Germline	Chr19:13235015	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239810	rs_368257155	4 SubmittersRCV000413582 RCV001216305 RCV000996784 RCV002318368
NM_001127222.2(CACNA1A):c.1198+1G>A	SNV Germline	Chr19:13334377	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA16043177	rs_1057518513	3 SubmittersRCV000413224 RCV001850999
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)	SNV Germline	Chr19:13371745	Conflicting classifications of pathogenicity	Cerebellar ataxia Dysarthria Spastic paraparesis Mild global developmental delay Intention tremor Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA16043551	rs_1057518779	4 SubmittersRCV000415249 RCV000803741 RCV001753849 RCV004725204
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.1782G>A (p.Lys594=)	SNV Germline	Chr19:13308251	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified	Criteria Provided Conflicting Classifications	CA9240719	rs_756972061	4 SubmittersRCV000435231 RCV001039593 RCV003317206
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)	SNV Germline	Chr2:165373331	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 11 Complex neurodevelopmental disorder Developmental and epileptic encephalopathy Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA16603920	rs_121917753	6 SubmittersRCV000444205 RCV001252614 RCV001265495 RCV001848749 RCV003989530
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu)	SNV Germline	Chr19:13208874	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239296	rs_778551911	3 SubmittersRCV001368839 RCV001704385
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.3531C>G (p.Pro1177=)	SNV Germline	Chr19:13286525	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Condition: not provided not specified CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240295	rs_184723350	7 SubmittersRCV001089018 RCV002451016 RCV000727896 RCV005239002 RCV003985345
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)	SNV Germline	Chr19:13286791	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240371	rs_201311000	9 SubmittersRCV000710948 RCV001080177 RCV001643142 RCV002446750 RCV003985352
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.539+9C>T	SNV Germline	Chr19:13452867	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9241020	rs_369146237	3 SubmittersRCV001214068 RCV001662384
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)	SNV Germline	Chr19:13212694	Conflicting classifications of pathogenicity	Condition: not provided not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239512	rs_778274864	5 SubmittersRCV000440064 RCV000791047 RCV001068298 RCV005532646
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)	SNV Germline	Chr19:13214276	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239549	rs_199886234	7 SubmittersRCV000439336 RCV000653359 RCV000990165 RCV001083556 RCV002318412
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.3822C>T (p.Asn1274=)	SNV Germline	Chr19:13283267	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240192	rs_201230929	4 SubmittersRCV000697189 RCV000710954 RCV005306010
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=)	SNV Germline	Chr19:13298879	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240488	rs_371757002	2 SubmittersRCV000432692 RCV000691135
NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His)	SNV Germline	Chr19:13208805	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA16608108	rs_1057521565	2 SubmittersRCV000444802 RCV001224501
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)	SNV Germline	Chr19:13209466	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239371	rs_760994682	4 SubmittersRCV000731092 RCV001411308
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn)	SNV Germline	Chr19:13212413	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239460	rs_761560224	3 SubmittersRCV000418343 RCV001299494 RCV002356582
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.5940+18C>G	SNV Germline	Chr19:13214215	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA16608118	rs_1057522421	3 SubmittersRCV000428422 RCV002059624 RCV001336212
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys)	SNV Germline	Chr19:13286890	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240398	rs_187393245	3 SubmittersRCV000553097 RCV000440421 RCV002318456
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu)	SNV Germline	Chr19:13286937	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240407	rs_776628272	3 SubmittersRCV000434119 RCV004965460 RCV002522708
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro)	SNV Germline	Chr19:13298673	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified	Criteria Provided Conflicting Classifications	CA16608158	rs_955869211	3 SubmittersRCV000418250 RCV001058158 RCV003993961
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)	SNV Germline	Chr19:13317306	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Tip-toe gait	Criteria Provided Conflicting Classifications	CA9240830	rs_561858384	9 SubmittersRCV000420690 RCV000658823 RCV000795075 RCV002311506 RCV003319199
NM_001127222.2(CACNA1A):c.1083-11T>C	SNV Germline	Chr19:13334504	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240913	rs_777235021	2 SubmittersRCV000417525 RCV002522471
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)	SNV Germline	Chr19:13208767	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16608876	rs_1057523197	4 SubmittersRCV000427955 RCV002522456 RCV003144262 RCV004601169
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln)	SNV Germline	Chr19:13208906	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16608878	rs_1006425986	3 SubmittersRCV000424906 RCV001861596 RCV005532647
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)	SNV Germline	Chr19:13208935	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16608886	rs_1032588483	5 SubmittersRCV000443580 RCV000990164 RCV001219860 RCV003168640
NM_001127222.2(CACNA1A):c.6190-3C>A	SNV Germline	Chr19:13212219	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239436	rs_368480650	4 SubmittersRCV001283515 RCV001865355
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)	SNV Germline	Chr19:13255188	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239969	rs_182161386	3 SubmittersRCV000419668 RCV001233140 RCV003362783
NM_001127222.2(CACNA1A):c.3990-2A>G	SNV Germline	Chr19:13262835	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA16608917	rs_1057524483	2 SubmittersRCV000427802 RCV001377005
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)	SNV Germline	Chr19:13298590	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240437	rs_190551509	6 SubmittersRCV000440429 RCV000706830 RCV003168701
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)	SNV Germline	Chr2:165373330	Pathogenic/Likely pathogenic	Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11 Developmental and epileptic encephalopathy, 11	Criteria Provided Multiple Submitters No Conflicts	CA1940198	rs_190111194	3 SubmittersRCV000469153 RCV001270400 RCV002510575
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln)	SNV Germline	Chr19:13208776	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239269	rs_779063280	4 SubmittersRCV001049031 RCV000484344 RCV003985360 RCV002525881
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp)	SNV Germline	Chr19:13208842	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239290	rs_751926317	5 SubmittersRCV000727072 RCV001364178 RCV005532667
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)	SNV Germline	Chr19:13208856	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16620769	rs_1064793075	5 SubmittersRCV000481930 RCV001232171 RCV003323560 RCV005532665
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys)	SNV Germline	Chr19:13208857	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239291	rs_757715357	3 SubmittersRCV000478540 RCV001241367
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.6464G>A (p.Arg2155His)	SNV Germline	Chr19:13209374	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16620771	rs_572722130	5 SubmittersRCV000761991 RCV002525898 RCV002318579
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)	SNV Germline	Chr19:13212171	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239421	rs_752513542	3 SubmittersRCV001865468 RCV000762254
NM_001127222.2(CACNA1A):c.6190-2A>C	SNV Germline	Chr19:13212218	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA16620773	rs_1064796709	3 SubmittersRCV000483754 RCV004965497 RCV001379725
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)	SNV Germline	Chr19:13214572	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239590	rs_771636070	3 SubmittersRCV000485620 RCV003766705
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.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.4042C>T (p.Arg1348Trp)	SNV Germline	Chr19:13262781	Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA16620787	rs_1064794858	2 SubmittersRCV000486810 RCV003766687
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)	SNV Germline	Chr19:13285111	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240245	rs_372017604	3 SubmittersRCV001070658 RCV000483313
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)	SNV Germline	Chr19:13286526	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240297	rs_201789073	4 SubmittersRCV000479702 RCV001205704 RCV002341143
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)	SNV Germline	Chr19:13298766	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240457	rs_551380805	4 SubmittersRCV001431438 RCV000710087
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)	SNV Germline	Chr19:13298821	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240470	rs_771423362	3 SubmittersRCV001337615 RCV000710942
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu)	SNV Germline	Chr19:13298868	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16620791	rs_752824390	3 SubmittersRCV000481089 RCV001342665 RCV002436540
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.1594G>A (p.Glu532Lys)	SNV Germline	Chr19:13312743	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA16620797	rs_1064794263	6 SubmittersRCV000487043 RCV002526562 RCV002470870
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)	SNV Germline	Chr19:13332899	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240876	rs_187259531	6 SubmittersRCV000479522 RCV000687506 RCV004023139 RCV004735559
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val)	SNV Germline	Chr19:13506220	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16620804	rs_927310190	3 SubmittersRCV001362235 RCV001704643 RCV004965495
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)	SNV Germline	Chr19:13286509	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Developmental and epileptic encephalopathy, 42 not specified	Criteria Provided Conflicting Classifications	CA9240285	rs_373224251	6 SubmittersRCV000488137 RCV000818299 RCV002525994 RCV001262317 RCV005434966
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr)	SNV Germline	Chr12:4912319	Likely pathogenic	Condition: not provided Episodic ataxia type 1	Criteria Provided Multiple Submitters No Conflicts	CA383455679	rs_1085308020	4 SubmittersRCV000489690 RCV001782976
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)	SNV Germline	Chr19:13212203	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239431	rs_769040794	5 SubmittersRCV000624453 RCV001364368 RCV000488982
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)	SNV Germline	Chr19:13298754	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240455	rs_762396014	3 SubmittersRCV000489666 RCV001237622 RCV001823144
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)	SNV Germline	Chr19:13452889	Conflicting classifications of pathogenicity	Condition: not provided CACNA1A-related disorder Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404967427	rs_1057521920	4 SubmittersRCV000489287 RCV003313959 RCV005213303
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)	SNV Germline	Chr19:13209371	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA9239355	rs_755749925	5 SubmittersRCV000493640 RCV000692582 RCV002318598 RCV004782403
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.3226G>A (p.Ala1076Thr)	SNV Germline	Chr19:13286830	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA9240385	rs_554091859	5 SubmittersRCV000494033 RCV000707375 RCV002323856 RCV004999538
NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser)	SNV Germline	Chr12:4912561	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA383456228	rs_1135401950	2 SubmittersRCV000496443 RCV004783794
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)	SNV Germline	Chr19:13208877	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases Condition: not provided Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA305547478	rs_16052	4 SubmittersRCV000653344 RCV002367677 RCV001707709 RCV005208140
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.2729T>G (p.Leu910Arg)	SNV Germline	Chr19:13298904	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305506421	rs_953766694	4 SubmittersRCV000497473 RCV001046824 RCV005306044
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)	SNV Germline	Chr19:13334435	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240910	rs_773593740	5 SubmittersRCV000504059 RCV002524161 RCV003456403 RCV001301380
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser)	SNV Germline	Chr19:13335849	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Tip-toe gait	Criteria Provided Conflicting Classifications	CA305541029	rs_977960069	3 SubmittersRCV000501045 RCV001042082 RCV002051861
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)	SNV Germline	Chr2:152098386	Conflicting classifications of pathogenicity	Idiopathic generalized epilepsy Episodic ataxia type 5 Epilepsy, idiopathic generalized, susceptibility to, 9 not specified CACNB4-related disorder	Criteria Provided Conflicting Classifications	CA1912737	rs_773391545	4 SubmittersRCV000685212 RCV000764271 RCV000516317 RCV004535669
NM_000217.3(KCNA1):c.60G>C (p.Gln20His)	SNV Germline	Chr12:4911438	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA6399336	rs_201504073	4 SubmittersRCV000517963 RCV000639376
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe)	SNV Germline	Chr12:4912291	Likely pathogenic	Condition: not provided Episodic ataxia type 1	Criteria Provided Multiple Submitters No Conflicts	CA383455619	rs_1555085761	2 SubmittersRCV000517456 RCV001775128
NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu)	SNV Germline	Chr12:4912592	Pathogenic	Condition: not provided Episodic ataxia type 1	Criteria Provided Multiple Submitters No Conflicts	CA383456286	rs_1555085798	2 SubmittersRCV000516981 RCV001857907
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.6013G>A (p.Ala2005Thr)	SNV Germline	Chr19:13212668	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9239505	rs_374063403	4 SubmittersRCV000807225 RCV001528226 RCV000518729
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)	SNV Germline	Chr19:13235013	Conflicting classifications of pathogenicity	Inborn genetic diseases CACNA1A-related disorder not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239809	rs_758409135	6 SubmittersRCV002341204 RCV004735585 RCV000517347 RCV000951188 RCV001078798
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)	SNV Germline	Chr19:13253050	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA404338184	rs_943715197	3 SubmittersRCV000516355 RCV002527458 RCV004767318
NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro)	SNV Germline	Chr19:13275928	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9240146	rs_755279579	3 SubmittersRCV001059864 RCV005051789 RCV000518770
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu)	SNV Germline	Chr19:13286673	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240341	rs_754208553	2 SubmittersRCV000517393 RCV002525020
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)	SNV Germline	Chr19:13286889	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240397	rs_200850308	4 SubmittersRCV000518167 RCV000810178 RCV002323878
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)	SNV Germline	Chr19:13299242	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240559	rs_370746809	2 SubmittersRCV003766909 RCV000517699
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=)	SNV Germline	Chr19:13300564	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA505660774	rs_1382705855	2 SubmittersRCV000518538 RCV001500248
NM_001127222.2(CACNA1A):c.1199-9C>T	SNV Germline	Chr19:13332934	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240881	rs_529977616	3 SubmittersRCV000517959 RCV000904927 RCV001576544
NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg)	SNV Germline	Chr12:4912504	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA383456100	rs_1555085786	3 SubmittersRCV000522746 RCV000709846
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)	SNV Germline	Chr19:13208961	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Episodic ataxia type 2 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications	CA404330599	rs_1325697290	3 SubmittersRCV000521823 RCV001858044 RCV003458453
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.6346T>G (p.Ser2116Ala)	SNV Germline	Chr19:13209492	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239372	rs_576057388	3 SubmittersRCV000520739 RCV001070996
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.5986A>G (p.Thr1996Ala)	SNV Germline	Chr19:13212695	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239514	rs_141963371	5 SubmittersRCV000694727 RCV000991680 RCV002525162
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.4047G>T (p.Val1349=)	SNV Germline	Chr19:13262776	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA505660157	rs_1265632174	2 SubmittersRCV000522319 RCV003766969
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly)	SNV Germline	Chr19:13286536	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA305564013	rs_996509493	2 SubmittersRCV000519991 RCV001236106
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys)	SNV Germline	Chr19:13298884	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA305506396	rs_368081042	2 SubmittersRCV000522662 RCV000653339
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_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp)	SNV Germline	Chr2:165367225	Conflicting classifications of pathogenicity	Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Condition: not provided Inborn genetic diseases Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9 Genetic developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA1940130	rs_115231482	5 SubmittersRCV000551875 RCV001556515 RCV002456120 RCV002265794 RCV005625673
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met)	SNV Germline	Chr19:13209459	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239369	rs_368183370	2 SubmittersRCV000532320 RCV002315037
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg)	SNV Germline	Chr19:13231850	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404334921	rs_1555737113	3 SubmittersRCV000547039 RCV000622365 RCV001731780
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)	SNV Germline	Chr19:13231851	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239766	rs_376684786	4 SubmittersRCV000534550 RCV001505365 RCV002341460
NM_001127222.2(CACNA1A):c.1082+1G>A	SNV Germline	Chr19:13335805	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404346656	rs_1272886269	2 SubmittersRCV000544536 RCV004722917
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter)	SNV Germline	Chr19:13257514	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404339094	rs_1555743942	1 SubmittersRCV000552285
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=)	SNV Germline	Chr19:13455161	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9241058	rs_747917423	2 SubmittersRCV000548010 RCV001591298
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)	SNV Germline	Chr19:13286512	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240286	rs_369742607	6 SubmittersRCV000525516 RCV000710950 RCV005431763 RCV002456255
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu)	SNV Germline	Chr19:13298570	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305506122	rs_1038705410	3 SubmittersRCV000529094 RCV003327421 RCV004965575
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter)	SNV Germline	Chr19:13308496	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404345184	rs_1555759066	1 SubmittersRCV000528779
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)	SNV Germline	Chr19:13365413	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404348567	rs_1555774859	2 SubmittersRCV000553225 RCV002289769
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	SNV Germline	Chr2:165342455	Pathogenic/Likely pathogenic	Condition: not provided Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 See cases Autism spectrum disorder Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA349012892	rs_1553578503	6 SubmittersRCV000585495 RCV001055515 RCV002252172 RCV003126828 RCV004783819
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)	SNV Germline	Chr19:13285123	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240247	rs_767000559	3 SubmittersRCV000594032 RCV001528103 RCV001854006
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)	SNV Germline	Chr19:13230159	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239731	rs_188863534	3 SubmittersRCV000726754 RCV001400635
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.6613C>T (p.Arg2205Trp)	SNV Germline	Chr19:13208923	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305547622	rs_780467849	4 SubmittersRCV000594367 RCV000653324 RCV002368016
NM_001127222.2(CACNA1A):c.1782-6C>T	SNV Germline	Chr19:13308257	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240720	rs_201350764	5 SubmittersRCV000710932 RCV001079776 RCV003985384
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)	SNV Germline	Chr19:13365402	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified	Criteria Provided Conflicting Classifications	CA9240973	rs_749587119	3 SubmittersRCV000710977 RCV001439451 RCV005000370
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)	SNV Germline	Chr19:13230191	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404333762	rs_1555736565	8 SubmittersRCV000593477 RCV000818527 RCV002272299 RCV004791617
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)	SNV Germline	Chr19:13365468	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases not specified CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240981	rs_202216404	6 SubmittersRCV000727523 RCV001082686 RCV002311954 RCV004782468 RCV003985385
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)	SNV Germline	Chr19:13214305	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239552	rs_371972266	4 SubmittersRCV000727910 RCV001411719 RCV002358731
NM_001127222.2(CACNA1A):c.399+3G>A	SNV Germline	Chr19:13455104	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA658799170	rs_1275496281	2 SubmittersRCV000603579 RCV002528531
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=)	SNV Germline	Chr19:13212172	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239422	rs_758320697	2 SubmittersRCV000611064 RCV000819435
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)	SNV Germline	Chr19:13230191	Likely pathogenic	Generalized hypotonia Global developmental delay Strabismus Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404333760	rs_1555736565	2 SubmittersRCV000626755 RCV005213366
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.2191G>T (p.Glu731Ter)	SNV Germline	Chr19:13300638	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404344014	rs_1555756737	1 SubmittersRCV000653332
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter)	SNV Germline	Chr19:13298878	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404342778	rs_1555756130	1 SubmittersRCV000653333
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln)	SNV Germline	Chr19:13209389	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239362	rs_751044309	3 SubmittersRCV003411551 RCV000653326 RCV002532006
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys)	SNV Germline	Chr19:13283302	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404340598	rs_1555751762	3 SubmittersRCV000653321 RCV004702253 RCV005253026
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr)	SNV Germline	Chr19:13330262	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA305535638	rs_866479368	3 SubmittersRCV000653335 RCV001288482
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.2788C>T (p.Arg930Trp)	SNV Germline	Chr19:13298845	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240480	rs_367882437	5 SubmittersRCV000658469 RCV000821861 RCV004026033
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter)	SNV Germline	Chr19:13299094	Pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404343230	rs_1420078244	2 SubmittersRCV000657995 RCV001382612
NM_001127222.2(CACNA1A):c.3692+1G>T	SNV Germline	Chr19:13285067	Pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404340819	rs_1315533129	1 SubmittersRCV000681661
NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln)	SNV Germline	Chr2:151839372	Conflicting classifications of pathogenicity	Idiopathic generalized epilepsy Episodic ataxia type 5 not specified	Criteria Provided Conflicting Classifications	CA1912359	rs_751754026	3 SubmittersRCV000687371 RCV001136144 RCV004897654
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)	SNV Germline	Chr19:13208821	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239285	rs_759576380	4 SubmittersRCV000687354 RCV000996772 RCV002360723
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)	SNV Germline	Chr19:13209390	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9239363	rs_756780624	4 SubmittersRCV000705442 RCV001091781 RCV003985413
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)	SNV Germline	Chr19:13359695	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA404347198	rs_1168625480	3 SubmittersRCV000686079 RCV000710984
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)	SNV Germline	Chr19:13359752	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA404347329	rs_1013100046	4 SubmittersRCV000691097 RCV001174531 RCV001731893
NM_001127222.2(CACNA1A):c.4950+1G>T	SNV Germline	Chr19:13245181	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404337849	rs_1568457080	1 SubmittersRCV000687889
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)	SNV Germline	Chr19:13208785	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239271	rs_758625682	2 SubmittersRCV000703120 RCV001561162
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter)	SNV Germline	Chr19:13212204	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9239432	rs_779221807	2 SubmittersRCV000707561 RCV001092214
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)	SNV Germline	Chr19:13235621	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404336552	rs_1568447557	1 SubmittersRCV000706124
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter)	SNV Germline	Chr19:13259661	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA404339415	rs_1568470104	2 SubmittersRCV000685695 RCV002274087
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn)	SNV Germline	Chr19:13285138	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240254	rs_750231498	5 SubmittersRCV000691224 RCV000996787 RCV003985410 RCV004025081
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)	SNV Germline	Chr19:13298580	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9240433	rs_762288499	3 SubmittersRCV000702556 RCV004026599 RCV003480790
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro)	SNV Germline	Chr19:13298616	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA404342242	rs_1268938831	2 SubmittersRCV000688501 RCV001592872
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)	SNV Germline	Chr19:13298617	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240440	rs_757026025	4 SubmittersRCV000696771 RCV000732666 RCV002533462
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)	SNV Germline	Chr19:13298695	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA404342406	rs_778978325	3 SubmittersRCV000689874 RCV003238802
NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu)	SNV Germline	Chr19:13208838	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA404329647	rs_1317740666	2 SubmittersRCV000703398 RCV005318493
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)	SNV Germline	Chr19:13298941	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Migraine, familial hemiplegic, 1 Inborn genetic diseases CACNA1A-related disorder not specified Intellectual disability	Criteria Provided Conflicting Classifications	CA9240500	rs_751726770	7 SubmittersRCV000694253 RCV000841214 RCV002267622 RCV002424647 RCV003985411 RCV004702335 RCV005622006
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)	SNV Germline	Chr19:13299132	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240542	rs_201666606	6 SubmittersRCV000710938 RCV000707156 RCV003987676 RCV002317926
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter)	SNV Germline	Chr19:13317198	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404345739	rs_1568528144	1 SubmittersRCV000694800
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)	SNV Germline	Chr19:13262772	Pathogenic	Episodic ataxia type 2 Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404339987	rs_1568473171	8 SubmittersRCV000709715 RCV002325439 RCV003492153 RCV001784349 RCV005223132
NM_000217.3(KCNA1):c.1311T>G (p.Ser437=)	SNV Germline	Chr12:4912689	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA478094645	rs_1565433583	2 SubmittersRCV000712100 RCV003626636
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)	SNV Germline	Chr19:13212140	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305550452	rs_1033214914	6 SubmittersRCV000710973 RCV001053349 RCV004026793
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)	SNV Germline	Chr19:13212496	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239478	rs_771768635	4 SubmittersRCV000710969 RCV001333786 RCV001458329
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)	SNV Germline	Chr19:13212637	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239498	rs_772988279	3 SubmittersRCV000710967 RCV001868324 RCV002352230
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)	SNV Germline	Chr19:13214600	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239596	rs_371957992	2 SubmittersRCV000821878 RCV000710966
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)	SNV Germline	Chr19:13262790	Pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 See cases	Criteria Provided Multiple Submitters No Conflicts	CA404340018	rs_1568473233	6 SubmittersRCV000710958 RCV000815552 RCV002289992 RCV003128416
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn)	SNV Germline	Chr19:13275893	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA404340223	rs_1568485068	4 SubmittersRCV000710957 RCV001861955 RCV003985414
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.3532C>A (p.Leu1178Ile)	SNV Germline	Chr19:13286524	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240293	rs_556266465	4 SubmittersRCV000710949 RCV005532748 RCV002534489
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)	SNV Germline	Chr19:13286881	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240395	rs_775079932	5 SubmittersRCV000710947 RCV000796725 RCV002325440
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys)	SNV Germline	Chr19:13452976	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404967630	rs_1568659847	3 SubmittersRCV000710961 RCV001390633
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)	SNV Germline	Chr2:165389559	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Inborn genetic diseases Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9 Seizures, benign familial infantile, 3	Criteria Provided Conflicting Classifications	CA1940422	rs_201718767	7 SubmittersRCV000997270 RCV000822218 RCV001329202 RCV002318864 RCV003224383
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)	SNV Germline	Chr19:13208880	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Intellectual disability Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9239307	rs_772789381	4 SubmittersRCV001348039 RCV001251915 RCV002316052 RCV004692207
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser)	SNV Germline	Chr19:13286809	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240377	rs_753077104	2 SubmittersRCV001862067 RCV002316705
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser)	SNV Germline	Chr19:13214545	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA404334430	rs_1205866071	2 SubmittersRCV001314944 RCV002318698
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln)	SNV Germline	Chr19:13259660	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240036	rs_369440853	3 SubmittersRCV001574395 RCV001868348 RCV002313517
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)	SNV Germline	Chr19:13317121	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9240792	rs_185034915	4 SubmittersRCV001248296 RCV002315423 RCV003482301
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)	SNV Germline	Chr19:13208820	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239284	rs_753798870	3 SubmittersRCV002313558 RCV001868349 RCV004569408
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=)	SNV Germline	Chr19:13208867	Conflicting classifications of pathogenicity	Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA305547440	rs_2304094	2 SubmittersRCV002312479 RCV002532995
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)	SNV Germline	Chr19:13286635	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240322	rs_780535727	3 SubmittersRCV000791955 RCV000991671 RCV002318274
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)	SNV Germline	Chr19:13286791	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240372	rs_201311000	5 SubmittersRCV001577172 RCV001053950 RCV002318203 RCV005055368
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)	SNV Germline	Chr19:13208871	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA404329803	rs_1336146310	2 SubmittersRCV001343264 RCV002316118
NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro)	SNV Germline	Chr19:13335821	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404346689	rs_1568546568	2 SubmittersRCV000728587 RCV001862154
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)	SNV Germline	Chr19:13212432	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified	Criteria Provided Conflicting Classifications	CA9239463	rs_760682283	3 SubmittersRCV000733903 RCV001087917 RCV004997260
NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter)	SNV Germline	Chr19:13277108	Pathogenic	Episodic ataxia type 2	No Assertion Criteria Provided	CA404340467	rs_774224202	1 SubmittersRCV000754874
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)	SNV Germline	Chr19:13212175	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Tip-toe gait See cases	Criteria Provided Conflicting Classifications	CA9239424	rs_751515136	6 SubmittersRCV000762255 RCV000822815 RCV003320369 RCV002252233
NM_001371246.1(SCN2A):c.687T>C (p.Ser229=)	SNV Germline	Chr2:165309246	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Condition: not provided Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9 Seizures, benign familial infantile, 3	Criteria Provided Conflicting Classifications	CA1939657	rs_746904068	2 SubmittersRCV000768307 RCV001797139 RCV003224451
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)	SNV Germline	Chr19:13259581	Conflicting classifications of pathogenicity	Condition: not provided Seizure Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240028	rs_368100270	3 SubmittersRCV001759476 RCV000781966 RCV001214082
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_001040142.2(SCN2A):c.1561G>C (p.Asp521His)	SNV Germline	Chr2:165315648	Conflicting classifications of pathogenicity	Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11 Developmental and epileptic encephalopathy, 11	Criteria Provided Conflicting Classifications	CA349023598	rs_1574572514	2 SubmittersRCV000801483 RCV001836891 RCV001844237
NM_000217.3(KCNA1):c.136C>A (p.Leu46Met)	SNV Germline	Chr12:4911514	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Condition: not provided Inborn genetic diseases not specified KCNA1-related disorder	Criteria Provided Conflicting Classifications	CA6399349	rs_149959487	5 SubmittersRCV000792773 RCV001289073 RCV003362939 RCV004997317 RCV004549866
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)	SNV Germline	Chr19:13208856	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA404329734	rs_1064793075	4 SubmittersRCV000796030 RCV001578054 RCV002537017
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)	SNV Germline	Chr19:13209354	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239346	rs_17846928	5 SubmittersRCV000796072 RCV001531292 RCV002534592 RCV003768490
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)	SNV Germline	Chr19:13210640	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239389	rs_771030765	4 SubmittersRCV001507934 RCV000797445
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter)	SNV Germline	Chr19:13235227	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404335836	rs_1600139005	1 SubmittersRCV000799538
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter)	SNV Germline	Chr19:13235625	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404336577	rs_1600139781	2 SubmittersRCV000817571 RCV001706710
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val)	SNV Germline	Chr19:13286524	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240292	rs_556266465	2 SubmittersRCV000824333 RCV004029175
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser)	SNV Germline	Chr19:13286592	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA404341317	rs_992828062	2 SubmittersRCV000823191 RCV003232129
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)	SNV Germline	Chr19:13286688	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240348	rs_769497214	2 SubmittersRCV000800578 RCV003332257
NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr)	SNV Germline	Chr19:13286818	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240381	rs_577581172	2 SubmittersRCV000819064 RCV004761821
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)	SNV Germline	Chr19:13286823	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9240382	rs_748935741	4 SubmittersRCV000807271 RCV001507936 RCV005418356
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu)	SNV Germline	Chr19:13298850	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9240481	rs_754998423	3 SubmittersRCV000797425 RCV002537045 RCV002508258
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter)	SNV Germline	Chr19:13299225	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404343518	rs_1600274038	1 SubmittersRCV000806243
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter)	SNV Germline	Chr19:13303849	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404344434	rs_940460024	1 SubmittersRCV000796048
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)	SNV Germline	Chr19:13308150	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA404344774	rs_1600292507	3 SubmittersRCV000793441 RCV001031011 RCV005367559
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter)	SNV Germline	Chr19:13317233	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404345815	rs_767432719	1 SubmittersRCV000814263
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)	SNV Germline	Chr19:13371727	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA404350907	rs_886042230	5 SubmittersRCV000805379 RCV001727802 RCV000991679 RCV004789205
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.5940+5G>A	SNV Germline	Chr19:13214228	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239539	rs_780060495	3 SubmittersRCV000816712 RCV001576675 RCV002352434
NM_001127222.2(CACNA1A):c.6303+1G>A	SNV Germline	Chr19:13212102	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404332053	rs_1600088360	1 SubmittersRCV000826158
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)	SNV Germline	Chr19:13214329	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239559	rs_368203745	3 SubmittersRCV000841634 RCV001372792
NM_001127222.2(CACNA1A):c.2172+14G>A	SNV Germline	Chr19:13303532	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA505660834	rs_1195908031	3 SubmittersRCV000841941 RCV001809859 RCV002536143
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.1262G>A (p.Arg421Gln)	SNV Germline	Chr19:13330327	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240853	rs_752902118	2 SubmittersRCV000908328 RCV003145234
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)	SNV Germline	Chr19:13208867	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239293	rs_2304094	4 SubmittersRCV000940459 RCV001523752 RCV002363438
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=)	SNV Germline	Chr19:13359660	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240942	rs_754935637	2 SubmittersRCV000935937 RCV001498044
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=)	SNV Germline	Chr19:13359671	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA505660918	rs_1599276914	3 SubmittersRCV000939153 RCV004735899 RCV003151824
NM_001127222.2(CACNA1A):c.2172+8C>T	SNV Germline	Chr19:13303538	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240619	rs_200277127	2 SubmittersRCV001452950 RCV002544534
NM_001127222.2(CACNA1A):c.4389-5T>C	SNV Germline	Chr19:13257556	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305537447	rs_896214992	2 SubmittersRCV001405152 RCV002332904
NM_001040142.2(SCN2A):c.1384-2A>G	SNV Germline	Chr2:165315469	Likely pathogenic	Seizures, benign familial infantile, 3 Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA349022622	rs_1574571769	2 SubmittersRCV000986852 RCV002468609
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met)	SNV Unknown	Chr19:13262778	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404339999	rs_1600198481	1 SubmittersRCV000990166
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)	SNV Germline	Chr19:13303587	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404344184	rs_1568514116	3 SubmittersRCV000990168 RCV001267553 RCV001368840
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys)	SNV Germline	Chr19:13335829	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA404346704	rs_1568546593	3 SubmittersRCV000990170 RCV005213418 RCV004777914
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)	SNV Unknown	Chr19:13365448	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404348657	rs_121908225	1 SubmittersRCV000990172
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala)	SNV Unknown	Chr19:13365457	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404348674	rs_1599292631	1 SubmittersRCV000990173
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=)	SNV Germline	Chr5:36629547	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 6	Criteria Provided Conflicting Classifications	CA3235407	rs_375527461	4 SubmittersRCV000993020 RCV001154684
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile)	SNV Germline	Chr19:13286754	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240367	rs_768567834	4 SubmittersRCV000991670 RCV001339446 RCV003333114
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)	SNV Germline	Chr19:13286828	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240383	rs_373678395	5 SubmittersRCV000991669 RCV001417455 RCV002320203 RCV003985474
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu)	SNV Germline	Chr19:13359683	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA404347149	rs_1599276954	2 SubmittersRCV000991687 RCV002550629
NM_001127222.2(CACNA1A):c.2105-2A>G	SNV Germline	Chr19:13303615	Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA305508429	rs_906086634	2 SubmittersRCV000991663 RCV003769308
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)	SNV Germline	Chr19:13209372	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 EEG with focal epileptiform discharges	Criteria Provided Conflicting Classifications	CA305548115	rs_554393704	5 SubmittersRCV000996776 RCV001057739 RCV001537639
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)	SNV Germline	Chr19:13214530	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239584	rs_771104002	5 SubmittersRCV000996781 RCV001038105 RCV002354907 RCV001823176
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)	SNV Germline	Chr19:13298653	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404342322	rs_1600271575	5 SubmittersRCV000996790 RCV001029965 RCV002549952 RCV004554843
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter)	SNV Germline	Chr19:13299082	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404343205	rs_1600273534	2 SubmittersRCV000996792 RCV001050623
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)	SNV Germline	Chr19:13308157	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404344790	rs_1346036017	5 SubmittersRCV000996793 RCV002409326 RCV002550702 RCV003314656
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg)	SNV Germline	Chr19:13365409	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications	CA404348545	rs_1599292506	3 SubmittersRCV000996800 RCV003769357 RCV001706714
NM_001127222.2(CACNA1A):c.4591-2A>G	SNV Germline	Chr19:13255261	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404338695	rs_1600180659	1 SubmittersRCV000995711
NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg)	SNV Germline	Chr2:152098972	Conflicting classifications of pathogenicity	Idiopathic generalized epilepsy Episodic ataxia type 5	Criteria Provided Conflicting Classifications	CA1912792	rs_573977862	2 SubmittersRCV001044614 RCV001131841
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly)	SNV Germline	Chr19:13208923	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239322	rs_780467849	2 SubmittersRCV001043760 RCV003117719
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp)	SNV Germline	Chr19:13210625	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA404331287	rs_1162464868	2 SubmittersRCV001072009 RCV001819797
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser)	SNV Germline	Chr19:13212195	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9239430	rs_370514102	4 SubmittersRCV001041193 RCV004735933 RCV003886470 RCV004702595
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)	SNV Germline	Chr19:13212411	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239459	rs_774164327	2 SubmittersRCV001041789 RCV002552503
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu)	SNV Germline	Chr19:13212433	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239464	rs_539347883	3 SubmittersRCV001066054 RCV003222214 RCV002554480
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)	SNV Germline	Chr19:13212472	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239472	rs_369555957	2 SubmittersRCV001062812 RCV001552668
NM_001127221.2(CACNA1A):c.5569C>T (p.Arg1857Ter)	SNV Germline	Chr19:13228758	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404331536	rs_1296262946	3 SubmittersRCV001063625 RCV001664653 RCV003985479
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)	SNV Germline	Chr19:13230133	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404333515	rs_2055610097	3 SubmittersRCV001066982 RCV001759838 RCV002250722
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)	SNV Germline	Chr19:13235648	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Intellectual disability	Criteria Provided Single Submitter	CA404336679	rs_2055849544	2 SubmittersRCV001039877 RCV001251920
NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter)	SNV Germline	Chr19:13261451	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404339522	rs_2056733130	2 SubmittersRCV001069607 RCV001664659
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu)	SNV Germline	Chr19:13286646	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240330	rs_200333359	2 SubmittersRCV001044375 RCV003405242
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp)	SNV Germline	Chr19:13286689	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240349	rs_775079497	2 SubmittersRCV001044974 RCV002286803
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys)	SNV Germline	Chr19:13298598	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240438	rs_573941336	2 SubmittersRCV001049225 RCV002436596
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)	SNV Germline	Chr19:13298616	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA404342241	rs_1268938831	2 SubmittersRCV001039699 RCV002305562
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter)	SNV Germline	Chr19:13308453	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404345093	rs_2057953268	3 SubmittersRCV001052581 RCV001567380
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.1427G>A (p.Arg476His)	SNV Germline	Chr19:13317240	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240814	rs_755107633	3 SubmittersRCV001048359 RCV001570122
NM_001127222.2(CACNA1A):c.5134-3C>T	SNV Germline	Chr19:13235039	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239812	rs_576141199	2 SubmittersRCV001042668 RCV001538109
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)	SNV Germline	Chr2:165388755	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia, type 9 Complex neurodevelopmental disorder Developmental and epileptic encephalopathy, 11	Criteria Provided Multiple Submitters No Conflicts	CA349037848	rs_1702008435	4 SubmittersRCV001090355 RCV001200929 RCV001265319 RCV001260973
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)	SNV Germline	Chr19:13210639	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239388	rs_373229577	2 SubmittersRCV001091782 RCV001862700
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)	SNV Germline	Chr19:13286559	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240304	rs_746222908	2 SubmittersRCV001092217 RCV003769023
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)	SNV Germline	Chr19:13317298	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified	Criteria Provided Conflicting Classifications	CA9240828	rs_774203605	4 SubmittersRCV001092224 RCV003283970 RCV001862706 RCV005436985
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=)	SNV Germline	Chr12:4912464	Conflicting classifications of pathogenicity	Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA478094739	rs_1264032724	2 SubmittersRCV001109177
NM_004172.5(SLC1A3):c.650T>C (p.Val217Ala)	SNV Germline	Chr5:36676974	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA3235513	rs_772789166	2 SubmittersRCV001155516 RCV001882488
NM_004172.5(SLC1A3):c.921G>T (p.Met307Ile)	SNV Germline	Chr5:36679687	Conflicting classifications of pathogenicity	Episodic ataxia type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA3235574	rs_761842691	2 SubmittersRCV001157201 RCV002558372
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)	SNV Germline	Chr19:13298829	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240473	rs_768048563	3 SubmittersRCV001198374 RCV001859203 RCV001751363
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)	SNV Germline	Chr19:13317229	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404345805	rs_1189054127	3 SubmittersRCV001200624 RCV003770232 RCV004819239
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)	SNV Germline	Chr2:165310468	Pathogenic	Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349018333	rs_1553567991	4 SubmittersRCV001217698 RCV001270381 RCV005057111 RCV003238322
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)	SNV Germline	Chr19:13208786	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239272	rs_375958273	2 SubmittersRCV001586061 RCV001218404
NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys)	SNV Germline	Chr19:13209375	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239358	rs_766661019	2 SubmittersRCV004820181 RCV001218332
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)	SNV Germline	Chr19:13209480	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA404331134	rs_2054721635	3 SubmittersRCV001216762 RCV002274151 RCV003414012
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)	SNV Germline	Chr19:13255136	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA404338409	rs_2056510928	4 SubmittersRCV001216392 RCV001586058 RCV002249808
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met)	SNV Germline	Chr19:13259589	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Seizure	Criteria Provided Multiple Submitters No Conflicts	CA404339250	rs_121908237	2 SubmittersRCV001217912 RCV004587073
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp)	SNV Germline	Chr19:13298956	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA404342942	rs_1262547488	2 SubmittersRCV002436848 RCV001220274
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr)	SNV Germline	Chr19:13308521	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240753	rs_767207007	2 SubmittersRCV001218393 RCV004822325
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter)	SNV Germline	Chr19:13317129	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404345590	rs_2058143736	2 SubmittersRCV001223292 RCV002471049
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His)	SNV Germline	Chr19:13209356	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9239348	rs_769503871	2 SubmittersRCV001207392 RCV003985485
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.3574G>A (p.Asp1192Asn)	SNV Germline	Chr19:13285186	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240265	rs_773649403	2 SubmittersRCV001209978 RCV004768922
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)	SNV Germline	Chr19:13286950	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240414	rs_762343454	2 SubmittersRCV001210979 RCV001760183
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro)	SNV Germline	Chr19:13299033	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305506494	rs_754326939	2 SubmittersRCV001206934 RCV002436797
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_000217.3(KCNA1):c.520G>A (p.Val174Ile)	SNV Germline	Chr12:4911898	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA383454742	rs_104894349	2 SubmittersRCV001232347 RCV004809540
NM_001127221.2(CACNA1A):c.5532C>A (p.Cys1844Ter)	SNV Germline	Chr19:13228795	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404331965	rs_765557914	2 SubmittersRCV001226545 RCV001819923
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn)	SNV Germline	Chr19:13299329	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240572	rs_771905201	2 SubmittersRCV001236844 RCV004570599
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.3122G>T (p.Gly1041Val)	SNV Germline	Chr19:13286934	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9240405	rs_370396470	3 SubmittersRCV001247951 RCV002322162 RCV004769966
NM_001127222.2(CACNA1A):c.2813G>T (p.Gly938Val)	SNV Germline	Chr19:13298820	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240469	rs_747413278	2 SubmittersRCV001248018 RCV004800753
NM_001127222.2(CACNA1A):c.4389-1G>C	SNV Germline	Chr19:13257552	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404339183	rs_1360397142	1 SubmittersRCV001226222
NM_001127222.2(CACNA1A):c.3089+1G>A	SNV Germline	Chr19:13298543	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404342090	rs_2057717676	1 SubmittersRCV001234689
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)	SNV Germline	Chr2:165309366	Likely pathogenic	Seizures, benign familial infantile, 3 Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA349017330	rs_1064796691	2 SubmittersRCV001253523 RCV003989658
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.3989+1G>C	SNV Germline	Chr19:13275849	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404340125	rs_587776693	1 SubmittersRCV001260992
NM_001127222.2(CACNA1A):c.4089+2T>G	SNV Unknown	Chr19:13262732	Pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404339902	rs_1600198365	1 SubmittersRCV001261167
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)	SNV Germline	Chr2:165308782	Likely pathogenic	Complex neurodevelopmental disorder Seizures, benign familial infantile, 3 Complex neurodevelopmental disorder Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9	No Assertion Criteria Provided	CA349016760	rs_1697272829	2 SubmittersRCV001265268 RCV003313202
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)	SNV Germline	Chr2:165323303	Pathogenic	Inborn genetic diseases Complex neurodevelopmental disorder Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Condition: not provided Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA1939874	rs_746060762	6 SubmittersRCV001266046 RCV001265488 RCV001390103 RCV001780218 RCV002499455
NM_000217.3(KCNA1):c.1213C>G (p.Pro405Ala)	SNV Germline	Chr12:4912591	Likely pathogenic	Inborn genetic diseases Episodic ataxia type 1	Criteria Provided Multiple Submitters No Conflicts	CA383456282	rs_1947358808	2 SubmittersRCV001266903 RCV002290674
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter)	SNV Germline	Chr19:13299109	Pathogenic	Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404343264	rs_767534576	2 SubmittersRCV001266453 RCV001880119
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys)	SNV Germline	Chr19:13303872	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404344495	rs_2057842904	3 SubmittersRCV001268015 RCV001380079
NM_001040142.2(SCN2A):c.4822+1G>A	SNV Germline	Chr2:165387017	Likely pathogenic	Episodic ataxia, type 9 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11	No Assertion Criteria Provided	CA349036979	rs_2468150265	1 SubmittersRCV001270369
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)	SNV Germline	Chr19:13262796	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404340029	rs_2056768058	2 SubmittersRCV001281101 RCV001368887
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met)	SNV Germline	Chr19:13235012	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239808	rs_537982877	3 SubmittersRCV001289288 RCV001436395
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)	SNV Germline	Chr19:13308248	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404344990	rs_2057948502	3 SubmittersRCV001288484 RCV003294188 RCV001871718
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.6460C>T (p.Arg2154Trp)	SNV Germline	Chr19:13209378	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA404330835	rs_1374160355	3 SubmittersRCV001304925 RCV001815537 RCV002543117
NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp)	SNV Germline	Chr19:13259628	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404339333	rs_2056674737	1 SubmittersRCV001308810
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.2872C>A (p.His958Asn)	SNV Germline	Chr19:13298761	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305506243	rs_923472334	3 SubmittersRCV001298659 RCV002305593 RCV002437014
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His)	SNV Germline	Chr19:13317225	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240810	rs_763944721	2 SubmittersRCV001299627 RCV002393709
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg)	SNV Germline	Chr19:13365413	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404348566	rs_1555774859	1 SubmittersRCV001301264
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln)	SNV Germline	Chr19:13208814	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239281	rs_773057074	2 SubmittersRCV001316387 RCV002276688
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)	SNV Germline	Chr19:13230184	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404333747	rs_2055612479	1 SubmittersRCV001319286
NM_001127222.2(CACNA1A):c.5401-3C>T	SNV Germline	Chr19:13230212	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239737	rs_375947967	2 SubmittersRCV001314022 RCV001540441
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.905A>G (p.Asp302Gly)	SNV Germline	Chr19:13359679	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA404347135	rs_2059067761	2 SubmittersRCV001318930 RCV003318680
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)	SNV Germline	Chr19:13506022	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9241087	rs_576099495	3 SubmittersRCV001312855 RCV001531295
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu)	SNV Germline	Chr19:13286526	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240299	rs_201789073	2 SubmittersRCV001328545 RCV001863186
NM_001127222.2(CACNA1A):c.3039C>G (p.Tyr1013Ter)	SNV Germline	Chr19:13298594	Pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter	CA404342198	rs_1568507151	1 SubmittersRCV001328544
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.6771G>A (p.Ala2257=)	SNV Germline	Chr19:13208765	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA505659167	rs_753884600	2 SubmittersRCV001333787 RCV002546650
NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter)	SNV Germline	Chr19:13299151	Pathogenic	Episodic ataxia type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404343358	rs_2057736834	2 SubmittersRCV001336208 RCV004800979
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys)	SNV Germline	Chr19:13283389	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9240206	rs_781738239	4 SubmittersRCV001342238 RCV002546954 RCV004727168
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His)	SNV Germline	Chr19:13285134	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240252	rs_374286965	2 SubmittersRCV001347887 RCV002456508
NM_001040142.2(SCN2A):c.3530G>A (p.Arg1177Gln)	SNV Germline	Chr2:165367226	Conflicting classifications of pathogenicity	Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA1940131	rs_773202451	3 SubmittersRCV001369282 RCV004762131 RCV001820072
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_001127221.2(CACNA1A):c.5555T>C (p.Met1852Thr)	SNV Germline	Chr19:13228772	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239690	rs_368791169	2 SubmittersRCV001369302 RCV002285480
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met)	SNV Germline	Chr19:13286685	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240347	rs_374720207	4 SubmittersRCV001361891 RCV003482367 RCV005532978
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His)	SNV Germline	Chr19:13298937	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA404342904	rs_1290079536	2 SubmittersRCV001373706 RCV004601485
NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr)	SNV Germline	Chr19:13308151	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA9240707	rs_577006493	1 SubmittersRCV001359986
NM_001127222.2(CACNA1A):c.5840-2A>T	SNV Germline	Chr19:13214335	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404334223	rs_2144536202	1 SubmittersRCV001378180
NM_001127222.2(CACNA1A):c.4866+1G>T	SNV Germline	Chr19:13252990	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404338052	rs_2144725957	2 SubmittersRCV001377850 RCV003322621
NM_001127222.2(CACNA1A):c.540-1G>C	SNV Germline	Chr19:13371780	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404351408	rs_2144559526	1 SubmittersRCV001379527
NM_001127222.2(CACNA1A):c.399+1G>A	SNV Germline	Chr19:13455106	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 CACNA1A-related disorder	Criteria Provided Single Submitter	CA404967737	rs_2060983144	2 SubmittersRCV001377033 RCV004734160
NM_001040142.2(SCN2A):c.4543C>T (p.Arg1515Ter)	SNV Germline	Chr2:165381189	Pathogenic	Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA349034969	rs_1365774406	2 SubmittersRCV001387540 RCV005410934
NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter)	SNV Germline	Chr19:13209467	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404331086	rs_2144506487	1 SubmittersRCV001388667
NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser)	SNV Germline	Chr19:13257426	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404338889	rs_2144748340	1 SubmittersRCV001380077
NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter)	SNV Germline	Chr19:13299232	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404343529	rs_1231997862	1 SubmittersRCV001388196
NM_001127222.2(CACNA1A):c.4756-4C>T	SNV Germline	Chr19:13253105	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified	Criteria Provided Conflicting Classifications	CA9239936	rs_199841998	2 SubmittersRCV001393578 RCV005237778
NM_001127222.2(CACNA1A):c.1256-9T>C	SNV Germline	Chr19:13330342	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240854	rs_758786727	2 SubmittersRCV001410143 RCV001751758
NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val)	SNV Germline	Chr12:4912565	Pathogenic/Likely pathogenic	Episodic kinesigenic dyskinesia Episodic ataxia type 1	Criteria Provided Multiple Submitters No Conflicts	CA383456234	rs_2137673958	3 SubmittersRCV001449664 RCV001859333
NM_001127222.2(CACNA1A):c.5839+10G>A	SNV Germline	Chr19:13214491	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9239579	rs_371733571	3 SubmittersRCV001664880 RCV001440062 RCV003985497
NM_001127222.2(CACNA1A):c.1914-5T>C	SNV Germline	Chr19:13307859	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2499225391	rs_2145002415	2 SubmittersRCV001433973 RCV004998895
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=)	SNV Germline	Chr19:13506063	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9241089	rs_762262807	2 SubmittersRCV001443407 RCV001786485
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)	SNV Germline	Chr19:13300631	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA404343998	rs_1335209785	5 SubmittersRCV001468691 RCV001762691 RCV004734203
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)	SNV Germline	Chr19:13455205	Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404967957	rs_886037944	2 SubmittersRCV001544846 RCV001882616
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp)	SNV Germline	Chr19:13298670	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404342360	rs_1271411894	2 SubmittersRCV001551158 RCV002032584
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)	SNV Germline	Chr19:13286691	Conflicting classifications of pathogenicity	Condition: not provided SUDDEN INFANT DEATH SYNDROME Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240350	rs_201647627	3 SubmittersRCV001564629 RCV001788589 RCV001882665
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)	SNV Germline	Chr19:13298820	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA305506307	rs_747413278	3 SubmittersRCV001574150 RCV001839050 RCV002573226
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu)	SNV Germline	Chr19:13371714	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA404350845	rs_2144559262	2 SubmittersRCV001575419 RCV002246439
NM_001127222.2(CACNA1A):c.5401-13G>A	SNV Germline	Chr19:13230222	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA2499225384	rs_2144622540	2 SubmittersRCV001583892 RCV001866176
NM_001127222.2(CACNA1A):c.6340-7C>A	SNV Germline	Chr19:13209505	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9239374	rs_765609971	3 SubmittersRCV001663405 RCV001859423
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)	SNV Germline	Chr19:13261526	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404339701	rs_794727411	2 SubmittersRCV001706925 RCV003771862
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=)	SNV Germline	Chr19:13505955	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9241078	rs_371957971	2 SubmittersRCV001758072 RCV002074002
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)	SNV Germline	Chr19:13303845	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA404344424	rs_2144980758	5 SubmittersRCV001758187 RCV001882838 RCV004555884
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)	SNV Germline	Chr19:13235703	Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA9239858	rs_779576853	3 SubmittersRCV001763278 RCV002034491 RCV004584441
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His)	SNV Germline	Chr19:13235666	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA404336785	rs_1057519429	3 SubmittersRCV001766896 RCV001810309 RCV005213566
NM_001127222.2(CACNA1A):c.6051-9C>G	SNV Germline	Chr19:13212531	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA783415444	rs_1268738297	2 SubmittersRCV001767154 RCV005225465
NM_001127222.2(CACNA1A):c.6051-7C>G	SNV Germline	Chr19:13212529	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA993704827	rs_776664699	2 SubmittersRCV001772627 RCV003771969
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg)	SNV Germline	Chr19:13298824	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240472	rs_746428515	2 SubmittersRCV001756812 RCV001882896
NM_001127221.2(CACNA1A):c.5578T>C (p.Ser1860Pro)	SNV Germline	Chr19:13228749	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239689	rs_374688464	2 SubmittersRCV001752610 RCV002539145
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)	SNV Germline	Chr19:13300574	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA305507065	rs_535900273	3 SubmittersRCV001815092 RCV002542463 RCV003146244
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_001040142.2(SCN2A):c.5589G>C (p.Lys1863Asn)	SNV Germline	Chr2:165389395	Conflicting classifications of pathogenicity	Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Inborn genetic diseases Episodic ataxia, type 9 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11	Criteria Provided Conflicting Classifications	CA1940405	rs_760733246	3 SubmittersRCV001920581 RCV004043326 RCV004796681
NM_000217.3(KCNA1):c.1126G>A (p.Gly376Ser)	SNV Germline	Chr12:4912504	Pathogenic	Episodic ataxia type 1	Criteria Provided Single Submitter	CA383456101	rs_1555085786	1 SubmittersRCV001918958
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)	SNV Germline	Chr19:13209369	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA305548082	rs_1042634748	3 SubmittersRCV001965187 RCV002285518
NM_001127222.2(CACNA1A):c.5839+1G>C	SNV Germline	Chr19:13214500	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter	CA404334247	rs_951196653	1 SubmittersRCV001991990
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.4175T>C (p.Val1392Ala)	SNV Germline	Chr19:13261525	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404339699	rs_2144767386	2 SubmittersRCV002034426 RCV002466277
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)	SNV Germline	Chr19:13235220	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404335822	rs_2144647855	1 SubmittersRCV001964248
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser)	SNV Germline	Chr19:13506016	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9241086	rs_749526415	2 SubmittersRCV001901839 RCV002422915
NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp)	SNV Germline	Chr19:13214277	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA404334088	rs_1269205597	2 SubmittersRCV002019267 RCV004763300
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)	SNV Germline	Chr19:13298752	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA404342531	rs_1406066197	3 SubmittersRCV001911086 RCV002266051 RCV005603748
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=)	SNV Germline	Chr19:13208975	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA505659351	rs_371116746	2 SubmittersRCV001977562 RCV002361329
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg)	SNV Germline	Chr19:13312722	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA404345394	rs_2145030587	3 SubmittersRCV002008523 RCV003313258 RCV004785433
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)	SNV Germline	Chr19:13224762	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA305559041	rs_1010331313	2 SubmittersRCV001964303 RCV003229078
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_000217.3(KCNA1):c.1201G>A (p.Ala401Thr)	SNV Germline	Chr12:4912579	Conflicting classifications of pathogenicity	Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA383456261	rs_2137673966	2 SubmittersRCV002007815
NM_000217.3(KCNA1):c.631A>G (p.Ile211Val)	SNV Germline	Chr12:4912009	Conflicting classifications of pathogenicity	Episodic ataxia type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6399407	rs_775789299	3 SubmittersRCV001920018 RCV004631801

NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)

SNV
Germline

Chr2:151880879

Conflicting classifications of pathogenicity

Epilepsy, idiopathic generalized, susceptibility to, 9
Episodic ataxia type 5
Condition: not provided
Juvenile myoclonic epilepsy
Idiopathic generalized epilepsy
CACNB4-related disorder

Criteria Provided
Conflicting Classifications

CA118923

rs_1805031

10 SubmittersRCV000008046 RCV000008047 RCV000487686 RCV000298698 RCV001081010 RCV004532307

NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)

SNV
Germline

Chr19:13371744

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254415

rs_121908211

6 SubmittersRCV000009008 RCV002512926 RCV001533156 RCV003231095

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.5425A>C (p.Ile1809Leu)

SNV
Germline

Chr19:13230185

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254421

rs_121908214

5 SubmittersRCV000009012 RCV001390440 RCV001533163 RCV004791199

NM_001127222.2(CACNA1A):c.3989+1G>A

SNV
Germline

Chr19:13275849

Pathogenic

Episodic ataxia type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254429

rs_587776693

4 SubmittersRCV000009014 RCV001781208

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.4466T>C (p.Phe1489Ser)

SNV
Germline

Chr19:13257474

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA254443

rs_121908233

3 SubmittersRCV000009021

NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys)

SNV
Germline

Chr19:13231847

Pathogenic

Episodic ataxia type 2

No Assertion Criteria Provided

CA254457

rs_121908226

2 SubmittersRCV000009023

NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)

SNV
Germline

Chr19:13365448

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254473

rs_121908225

10 SubmittersRCV000009027 RCV000502832 RCV002272012 RCV001533157 RCV001390632 RCV003150928

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.3829C>T (p.Arg1277Ter)

SNV
Germline

Chr19:13277122

Pathogenic

Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
CACNA1A-related complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA254476

rs_121909323

5 SubmittersRCV000009031 RCV001851752 RCV004700208 RCV004786248

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.4205T>G (p.Phe1402Cys)

SNV
Germline

Chr19:13261495

Pathogenic

Episodic ataxia type 2

No Assertion Criteria Provided

CA254482

rs_121908227

2 SubmittersRCV000009033

NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter)

SNV
Germline

Chr19:13230158

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119656

rs_267606696

3 SubmittersRCV000009034 RCV001836705 RCV005222675

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.860G>A (p.Cys287Tyr)

SNV
Germline

Chr19:13359724

Pathogenic

Episodic ataxia type 2

No Assertion Criteria Provided

CA254492

rs_121908236

2 SubmittersRCV000009037

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_004172.5(SLC1A3):c.869C>G (p.Pro290Arg)

SNV
Germline

Chr5:36679635

Pathogenic

Episodic ataxia type 6

No Assertion Criteria Provided

CA254816

rs_137852619

1 SubmittersRCV000010048

NM_004172.5(SLC1A3):c.556T>A (p.Cys186Ser)

SNV
Germline

Chr5:36674080

Pathogenic

Episodic ataxia type 6

No Assertion Criteria Provided

CA254817

rs_137852620

1 SubmittersRCV000010049

NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)

SNV
Germline

Chr2:165344666

Pathogenic/Likely pathogenic

Seizures, benign familial infantile, 3
Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11

Criteria Provided
Multiple Submitters
No Conflicts

CA122770

rs_121917751

9 SubmittersRCV000013738 RCV000189121 RCV000527590 RCV003224096 RCV005208119

NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala)

SNV
Germline

Chr12:4912601

Pathogenic

Episodic ataxia type 1

No Assertion Criteria Provided

CA341286

rs_104894352

2 SubmittersRCV000014424

NM_000217.3(KCNA1):c.715C>A (p.Arg239Ser)

SNV
Germline

Chr12:4912093

Pathogenic

Episodic ataxia type 1

No Assertion Criteria Provided

CA256875

rs_104894348

1 SubmittersRCV000014425

NM_000217.3(KCNA1):c.520G>T (p.Val174Phe)

SNV
Germline

Chr12:4911898

Pathogenic

Episodic ataxia type 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA256876

rs_104894349

3 SubmittersRCV000014426 RCV001265691

NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile)

SNV
Germline

Chr12:4912123

Pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA256877

rs_104894356

2 SubmittersRCV000014427

NM_000217.3(KCNA1):c.551T>G (p.Phe184Cys)

SNV
Germline

Chr12:4911929

Pathogenic

Episodic ataxia type 1

No Assertion Criteria Provided

CA256878

rs_104894357

1 SubmittersRCV000014428

NM_000217.3(KCNA1):c.975G>C (p.Glu325Asp)

SNV
Germline

Chr12:4912353

Pathogenic

Episodic ataxia type 1

No Assertion Criteria Provided

CA256879

rs_104894353

1 SubmittersRCV000014429

NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala)

SNV
Germline

Chr12:4912054

Pathogenic

Episodic ataxia type 1
Condition: not provided

Criteria Provided
Single Submitter

CA341287

rs_104894354

3 SubmittersRCV000014430 RCV003221784

NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)

SNV
Germline

Chr12:4912588

Pathogenic

Episodic ataxia type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256880

rs_104894355

5 SubmittersRCV000014431 RCV002509157

NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn)

SNV
Germline

Chr12:4911908

Pathogenic

Episodic ataxia type 1

No Assertion Criteria Provided

CA256881

rs_267607195

1 SubmittersRCV000014432

NM_000217.3(KCNA1):c.1249C>T (p.Arg417Ter)

SNV
Germline

Chr12:4912627

Pathogenic

Episodic ataxia type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341288

rs_104894358

3 SubmittersRCV000014435 RCV005621850

NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg)

SNV
Germline

Chr12:4912055

Pathogenic

Episodic ataxia type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341290

rs_28933383

5 SubmittersRCV000014436 RCV001785451

NM_000217.3(KCNA1):c.677C>T (p.Thr226Met)

SNV
Germline

Chr12:4912055

Pathogenic

Episodic ataxia type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341655

rs_28933383

3 SubmittersRCV000020219 RCV004786276

NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)

SNV
Germline

Chr2:165297053

Pathogenic

Developmental and epileptic encephalopathy, 11
Complex neurodevelopmental disorder
Episodic ataxia, type 9
Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA128706

rs_387906683

8 SubmittersRCV000022766 RCV001265266 RCV003987329 RCV000713071 RCV003764629

NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)

SNV
Germline

Chr2:165310413

Pathogenic

Episodic ataxia, type 9
Seizures, benign familial infantile, 3
Epileptic encephalopathy
Condition: not provided
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Complex neurodevelopmental disorder
Infantile spasms
SCN2A-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA128711

rs_387906686

20 SubmittersRCV000022769 RCV000118251 RCV000416960 RCV000189193 RCV001200935 RCV001035869 RCV001265272 RCV003155911 RCV003985263 RCV004955258

NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)

SNV
Germline

Chr19:13317168

Pathogenic

Episodic ataxia type 2
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Hereditary episodic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA266034

rs_121908240

6 SubmittersRCV000059291 RCV001092223 RCV002513778 RCV003398649

NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)

SNV
Germline

Chr19:13298946

Conflicting classifications of pathogenicity

Episodic ataxia type 2
not specified
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA233571

rs_121908242

10 SubmittersRCV000059295 RCV000152897 RCV000513873 RCV001080277 RCV002426621 RCV003985266

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.4996C>T (p.Arg1666Trp)

SNV
Germline

Chr19:13235685

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA266053

rs_121908220

5 SubmittersRCV000059303 RCV000991674 RCV005222736

NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)

SNV
Germline

Chr19:13235649

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA266056

rs_121908243

5 SubmittersRCV001212963 RCV000059304 RCV003144120

NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys)

SNV
Germline

Chr19:13371735

Pathogenic

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

Criteria Provided
Single Submitter

CA266071

rs_121908222

2 SubmittersRCV000059309 RCV002514302

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.757C>T (p.His253Tyr)

SNV
Germline

Chr19:13365344

Likely pathogenic

Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA266080

rs_121908228

3 SubmittersRCV000059312 RCV001215900

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.1623G>A (p.Gly541=)

SNV
Germline

Chr19:13312714

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA221491

rs_375628894

7 SubmittersRCV000079476 RCV000723660 RCV002313755 RCV001083894 RCV003985267

NM_001127222.2(CACNA1A):c.1038C>T (p.Ile346=)

SNV
Germline

Chr19:13335850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA230928

rs_527246699

2 SubmittersRCV000116513 RCV005222755

NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)

SNV
Germline

Chr2:165313994

Conflicting classifications of pathogenicity

Condition: not provided
Seizures, benign familial infantile, 3
not specified
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA289013

rs_139815570

7 SubmittersRCV000118245 RCV000267564 RCV000212987 RCV001079874 RCV003224154 RCV002312490

NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)

SNV
Germline

Chr19:13209344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233565

rs_727503832

6 SubmittersRCV000693394 RCV000723815 RCV002362804

NM_001127222.2(CACNA1A):c.631+5G>A

SNV
Germline

Chr19:13371683

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA274488

rs_786200963

9 SubmittersRCV000169641 RCV001052102 RCV000996802 RCV003985284

NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)

SNV
Germline

Chr13:101083752

Pathogenic/Likely pathogenic

Intellectual disability with episodic ataxia and congenital arthrogryposis
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212642

rs_786201003

9 SubmittersRCV000167764 RCV000224736 RCV001267339 RCV001390781

NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)

SNV
Germline

Chr2:152099007

Conflicting classifications of pathogenicity

Juvenile myoclonic epilepsy
not specified
Epilepsy, idiopathic generalized, susceptibility to, 9
Idiopathic generalized epilepsy
CACNB4-related disorder
Episodic ataxia type 5
Epilepsy, idiopathic generalized, susceptibility to, 9
Episodic ataxia type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209568

rs_200092211

12 SubmittersRCV000341315 RCV000195021 RCV000660363 RCV001079683 RCV004535183 RCV000286296 RCV000515346 RCV000724000

NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=)

SNV
Germline

Chr19:13506066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA238677

rs_767892925

2 SubmittersRCV000173215 RCV001466366

NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)

SNV
Germline

Chr19:13298593

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Intellectual disability
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA241161

rs_16024

15 SubmittersRCV000175409 RCV000210670 RCV000432960 RCV000660566 RCV001080527 RCV001251922 RCV003985285

NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)

SNV
Germline

Chr19:13286620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241908

rs_376365775

5 SubmittersRCV000176046 RCV000724751 RCV001048020

NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)

SNV
Germline

Chr19:13286747

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241914

rs_374749004

6 SubmittersRCV000723917 RCV001080024 RCV000176048 RCV002453620

NM_001127222.2(CACNA1A):c.3822+1G>A

SNV
Germline

Chr19:13283266

Pathogenic

Condition: not provided
Inborn genetic diseases
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275109

rs_794727355

7 SubmittersRCV000176279 RCV001266258 RCV001852172 RCV003152690 RCV003233483

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.5014C>T (p.Arg1672Cys)

SNV
Germline

Chr19:13235667

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA244130

rs_794727558

3 SubmittersRCV000177634 RCV001852195 RCV002298504

NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)

SNV
Germline

Chr19:13224713

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA244920

rs_757291476

6 SubmittersRCV000724441 RCV001089248 RCV002317042 RCV003985288

NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)

SNV
Germline

Chr19:13209440

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA245719

rs_779044548

5 SubmittersRCV000178567 RCV000816451 RCV004965299 RCV004734795

NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)

SNV
Germline

Chr2:151839327

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic generalized epilepsy
Epilepsy, idiopathic generalized, susceptibility to, 9
Episodic ataxia type 5

Criteria Provided
Conflicting Classifications

CA313397

rs_762394421

4 SubmittersRCV000186839 RCV000459626 RCV003233493

NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)

SNV
Germline

Chr2:152098968

Conflicting classifications of pathogenicity

not specified
Episodic ataxia type 5
Juvenile myoclonic epilepsy
Idiopathic generalized epilepsy
Epilepsy, idiopathic generalized, susceptibility to, 9
Episodic ataxia type 5
Condition: not provided
CACNB4-related disorder

Criteria Provided
Conflicting Classifications

CA313404

rs_200662010

10 SubmittersRCV000186843 RCV000271279 RCV000384411 RCV000471900 RCV000515246 RCV002054189 RCV004537572

NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)

SNV
Germline

Chr2:152099004

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 5
Idiopathic generalized epilepsy
Juvenile myoclonic epilepsy
not specified

Criteria Provided
Conflicting Classifications

CA313402

rs_542973906

6 SubmittersRCV000186842 RCV000376086 RCV000526121 RCV000321619 RCV004020261

NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)

SNV
Germline

Chr2:165344688

Conflicting classifications of pathogenicity

Condition: not provided
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11

Criteria Provided
Conflicting Classifications

CA317895

rs_796053121

3 SubmittersRCV001721217 RCV001852499 RCV002492872

NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)

SNV
Germline

Chr2:165354232

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizure
Hereditary episodic ataxia
Vertigo
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA209995

rs_796053124

4 SubmittersRCV000189127 RCV000195526 RCV000417104 RCV002433854

NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)

SNV
Germline

Chr2:165365200

Conflicting classifications of pathogenicity

not specified
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Self-limited epilepsy with centrotemporal spikes
Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9
SCN2A-related disorder

Criteria Provided
Conflicting Classifications

CA317927

rs_200138205

11 SubmittersRCV000189136 RCV000302248 RCV000463410 RCV000655981 RCV000725887 RCV001329197 RCV003224211 RCV003985294

NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val)

SNV
Germline

Chr2:165365228

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia, type 9
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11

Criteria Provided
Conflicting Classifications

CA317930

rs_201124054

3 SubmittersRCV000189137 RCV002288794 RCV000795173

NM_001040142.2(SCN2A):c.4901G>A (p.Gly1634Asp)

SNV
Germline

Chr2:165388707

Pathogenic

Episodic ataxia, type 9

No Assertion Criteria Provided

CA318024

rs_1553463427

1 SubmittersRCV001200928

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_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)

SNV
Germline

Chr5:36686136

Conflicting classifications of pathogenicity

Episodic ataxia type 6
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3235696

rs_138085358

8 SubmittersRCV000234998 RCV000500491 RCV000727383

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.6473G>A (p.Arg2158His)

SNV
Germline

Chr19:13209365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239352

rs_375859889

2 SubmittersRCV000254914 RCV001318521

NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)

SNV
Germline

Chr19:13286701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240354

rs_199745070

6 SubmittersRCV000726478 RCV001088856 RCV004999189 RCV002321939

NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter)

SNV
Germline

Chr19:13317307

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588685

rs_886039668

3 SubmittersRCV000256093 RCV001383649

NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg)

SNV
Germline

Chr19:13261598

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10603345

rs_886041909

2 SubmittersRCV000317331 RCV000802158

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_000217.3(KCNA1):c.144C>T (p.Phe48=)

SNV
Germline

Chr12:4911522

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA10604074

rs_886042316

2 SubmittersRCV000286605 RCV002521876

NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)

SNV
Germline

Chr2:165389558

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Inborn genetic diseases
SCN2A-related disorder
Complex neurodevelopmental disorder
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9

Criteria Provided
Conflicting Classifications

CA1940421

rs_139899756

9 SubmittersRCV000509344 RCV001034485 RCV002317801 RCV003985312 RCV001265283 RCV003224250

NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)

SNV
Germline

Chr19:13212149

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
CACNA1A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239420

rs_765051582

5 SubmittersRCV000344424 RCV001040372 RCV004734922 RCV004965367

NM_001127222.2(CACNA1A):c.5133+10G>A

SNV
Germline

Chr19:13235199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239826

rs_369033909

3 SubmittersRCV000333600 RCV000725222 RCV001080437

NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)

SNV
Germline

Chr19:13259662

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240038

rs_555959123

3 SubmittersRCV000367118 RCV003105846

NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)

SNV
Germline

Chr19:13261479

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240062

rs_201200430

7 SubmittersRCV000274808 RCV000725223 RCV001085613 RCV003985313 RCV002314000

NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)

SNV
Germline

Chr19:13286525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240294

rs_184723350

5 SubmittersRCV000374998 RCV001083052 RCV000725282 RCV002338835

NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)

SNV
Germline

Chr19:13224746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239625

rs_17846921

4 SubmittersRCV000725399 RCV001080386 RCV002317808

NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)

SNV
Germline

Chr19:13298957

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240504

rs_780515850

5 SubmittersRCV000725442 RCV001085198 RCV002429219 RCV003985314

NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)

SNV
Germline

Chr19:13332891

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240874

rs_764453012

3 SubmittersRCV000334292 RCV001454207

NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)

SNV
Germline

Chr19:13235000

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239805

rs_371595464

4 SubmittersRCV000725882 RCV001069865

NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)

SNV
Germline

Chr19:13285142

Conflicting classifications of pathogenicity

not specified
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240256

rs_201236364

10 SubmittersRCV000351406 RCV001087304 RCV003985316 RCV000415907 RCV002450820

NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)

SNV
Germline

Chr19:13212507

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10605673

rs_886043571

2 SubmittersRCV000406663 RCV001439136

NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)

SNV
Germline

Chr19:13231794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10605746

rs_886043622

4 SubmittersRCV000291792 RCV001441403 RCV001660551 RCV002348012

NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)

SNV
Germline

Chr19:13317278

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10605791

rs_886043657

2 SubmittersRCV000269310 RCV001088343

NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)

SNV
Germline

Chr19:13317272

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240820

rs_374307014

6 SubmittersRCV000290103 RCV000726034 RCV001086862 RCV002317818

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.978+9T>C

SNV
Germline

Chr19:13359597

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240940

rs_111366222

4 SubmittersRCV000357921 RCV000726240 RCV001087586 RCV003985318

NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)

SNV
Germline

Chr19:13209374

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239357

rs_572722130

8 SubmittersRCV000345600 RCV000726322 RCV000556625 RCV004734944 RCV002314030

NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=)

SNV
Germline

Chr19:13455176

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9241062

rs_375486960

2 SubmittersRCV000291104 RCV001441087

NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)

SNV
Germline

Chr19:13286531

Conflicting classifications of pathogenicity

Condition: not provided
CACNA1A-related disorder
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA10606760

rs_886044439

3 SubmittersRCV000320967 RCV003985320 RCV001458213

NM_000217.3(KCNA1):c.611G>A (p.Arg204His)

SNV
Germline

Chr12:4911989

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA6399405

rs_2229000

3 SubmittersRCV000358778 RCV001088859

NM_000726.5(CACNB4):c.*5433A>G

SNV
Germline

Chr2:151833686

Conflicting classifications of pathogenicity

Juvenile myoclonic epilepsy
Episodic ataxia type 5

Criteria Provided
Conflicting Classifications

CA10610982

rs_563567053

1 SubmittersRCV000350046 RCV000396360

NM_000726.5(CACNB4):c.*4081G>A

SNV
Germline

Chr2:151835038

Conflicting classifications of pathogenicity

Episodic ataxia type 5
Juvenile myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA10610998

rs_148903851

1 SubmittersRCV000327366 RCV000381909

NM_000726.5(CACNB4):c.*624A>T

SNV
Germline

Chr2:151838495

Conflicting classifications of pathogenicity

Episodic ataxia type 5
Juvenile myoclonic epilepsy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611040

rs_755272601

2 SubmittersRCV000306401 RCV000363450 RCV002274985

NM_000726.5(CACNB4):c.*4131A>G

SNV
Germline

Chr2:151834988

Conflicting classifications of pathogenicity

Juvenile myoclonic epilepsy
Episodic ataxia type 5

Criteria Provided
Conflicting Classifications

CA10611379

rs_373381936

1 SubmittersRCV000291139 RCV000386227

NM_000726.5(CACNB4):c.*3668T>C

SNV
Germline

Chr2:151835451

Conflicting classifications of pathogenicity

Episodic ataxia type 5
Juvenile myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA10611381

rs_543493236

1 SubmittersRCV000340073 RCV000396193

NM_000726.5(CACNB4):c.*2188T>G

SNV
Germline

Chr2:151836931

Conflicting classifications of pathogenicity

Juvenile myoclonic epilepsy
Episodic ataxia type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611390

rs_548234328

2 SubmittersRCV000324254 RCV000360268 RCV003430835

NM_000726.5(CACNB4):c.*737C>T

SNV
Germline

Chr2:151838382

Conflicting classifications of pathogenicity

Episodic ataxia type 5
Juvenile myoclonic epilepsy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611413

rs_558590558

2 SubmittersRCV000312395 RCV000406529 RCV003311762

NM_000726.5(CACNB4):c.*6183A>G

SNV
Germline

Chr2:151832936

Conflicting classifications of pathogenicity

Episodic ataxia type 5
Juvenile myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA10612315

rs_185830609

1 SubmittersRCV000315311 RCV000353759

NM_000726.5(CACNB4):c.*5022A>G

SNV
Germline

Chr2:151834097

Conflicting classifications of pathogenicity

Episodic ataxia type 5
Juvenile myoclonic epilepsy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10612506

rs_548177540

2 SubmittersRCV000278076 RCV000372614 RCV003430834

NM_000726.5(CACNB4):c.*3475A>T

SNV
Germline

Chr2:151835644

Conflicting classifications of pathogenicity

Juvenile myoclonic epilepsy
Episodic ataxia type 5

Criteria Provided
Conflicting Classifications

CA10612547

rs_567549082

1 SubmittersRCV000354973 RCV000300093

NM_000726.5(CACNB4):c.*1110C>A

SNV
Germline

Chr2:151838009

Conflicting classifications of pathogenicity

Juvenile myoclonic epilepsy
Episodic ataxia type 5

Criteria Provided
Conflicting Classifications

CA10612585

rs_147608603

1 SubmittersRCV000274937 RCV000327764

NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=)

SNV
Germline

Chr2:165377602

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 3

Criteria Provided
Conflicting Classifications

CA1940250

rs_138241682

3 SubmittersRCV002057578 RCV003224263 RCV000374111

NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln)

SNV
Germline

Chr5:36629495

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3235398

rs_148490778

2 SubmittersRCV000340195 RCV002472994

NM_004172.5(SLC1A3):c.825C>T (p.Asn275=)

SNV
Germline

Chr5:36677149

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3235541

rs_201765665

2 SubmittersRCV000398221 RCV002058529

NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr)

SNV
Germline

Chr5:36679751

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3235588

rs_200243548

4 SubmittersRCV000298676 RCV000927291 RCV001662328

NM_004172.5(SLC1A3):c.1284A>C (p.Thr428=)

SNV
Germline

Chr5:36680584

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3235636

rs_200947079

3 SubmittersRCV000378138 RCV003430907

NM_004172.5(SLC1A3):c.*761G>A

SNV
Germline

Chr5:36687030

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10621705

rs_182371422

2 SubmittersRCV000358018 RCV003430908

NM_004172.5(SLC1A3):c.*1206G>A

SNV
Germline

Chr5:36687475

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10621710

rs_530235885

2 SubmittersRCV000292416 RCV003221954

NM_004172.5(SLC1A3):c.79C>T (p.Leu27Phe)

SNV
Germline

Chr5:36608502

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3235322

rs_146939026

2 SubmittersRCV000315656 RCV002520369

NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)

SNV
Germline

Chr12:4912842

Conflicting classifications of pathogenicity

Hereditary episodic ataxia
Episodic ataxia type 1
KCNA1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6399516

rs_147828649

4 SubmittersRCV000320846 RCV000531086 RCV004549669 RCV004586677

NM_000217.3(KCNA1):c.*1469G>A

SNV
Germline

Chr12:4914335

Conflicting classifications of pathogenicity

Hereditary episodic ataxia
Episodic ataxia type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632972

rs_536746031

2 SubmittersRCV000285843 RCV000324447 RCV002262965

NM_000217.3(KCNA1):c.*592C>A

SNV
Germline

Chr12:4913458

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Myokymia

Criteria Provided
Conflicting Classifications

CA10637699

rs_144000949

1 SubmittersRCV000277526 RCV000388642

NM_000217.3(KCNA1):c.*2245C>G

SNV
Germline

Chr12:4915111

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Hereditary episodic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10637709

rs_76258625

2 SubmittersRCV000293908 RCV000337229 RCV002510844

NM_000217.3(KCNA1):c.*5212C>T

SNV
Germline

Chr12:4918078

Conflicting classifications of pathogenicity

Hereditary episodic ataxia
Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA10637747

rs_139521962

1 SubmittersRCV000308858 RCV000402044

NM_000217.3(KCNA1):c.*1308C>T

SNV
Germline

Chr12:4914174

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Hereditary episodic ataxia

Criteria Provided
Conflicting Classifications

CA10641557

rs_575443810

1 SubmittersRCV000273627 RCV000330999

NM_000217.3(KCNA1):c.*2987G>A

SNV
Germline

Chr12:4915853

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Hereditary episodic ataxia

Criteria Provided
Conflicting Classifications

CA10641592

rs_547570693

1 SubmittersRCV000390883 RCV000345331

NM_000217.3(KCNA1):c.*3588T>C

SNV
Germline

Chr12:4916454

Conflicting classifications of pathogenicity

Hereditary episodic ataxia
Episodic ataxia type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641594

rs_535813845

2 SubmittersRCV000294129 RCV000400828 RCV003326403

NM_000217.3(KCNA1):c.-157T>A

SNV
Germline

Chr12:4911222

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Hereditary episodic ataxia

Criteria Provided
Conflicting Classifications

CA10642489

rs_534276633

1 SubmittersRCV000307305 RCV000390912

NM_000217.3(KCNA1):c.*4957C>A

SNV
Germline

Chr12:4917823

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Hereditary episodic ataxia

Criteria Provided
Conflicting Classifications

CA10642553

rs_549454829

1 SubmittersRCV000306951 RCV000366237

NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg)

SNV
Germline

Chr19:13299150

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA9240545

rs_753196787

2 SubmittersRCV000414678 RCV001861436

NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)

SNV
Germline

Chr19:13212736

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239519

rs_745775887

5 SubmittersRCV000413632 RCV000727526 RCV000791501 RCV002524653 RCV002275037

NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)

SNV
Germline

Chr19:13235015

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239810

rs_368257155

4 SubmittersRCV000413582 RCV001216305 RCV000996784 RCV002318368

NM_001127222.2(CACNA1A):c.1198+1G>A

SNV
Germline

Chr19:13334377

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043177

rs_1057518513

3 SubmittersRCV000413224 RCV001850999

NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)

SNV
Germline

Chr19:13371745

Conflicting classifications of pathogenicity

Cerebellar ataxia
Dysarthria
Spastic paraparesis
Mild global developmental delay
Intention tremor
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Condition: not provided
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA16043551

rs_1057518779

4 SubmittersRCV000415249 RCV000803741 RCV001753849 RCV004725204

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.1782G>A (p.Lys594=)

SNV
Germline

Chr19:13308251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240719

rs_756972061

4 SubmittersRCV000435231 RCV001039593 RCV003317206

NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)

SNV
Germline

Chr2:165373331

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 11
Complex neurodevelopmental disorder
Developmental and epileptic encephalopathy
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA16603920

rs_121917753

6 SubmittersRCV000444205 RCV001252614 RCV001265495 RCV001848749 RCV003989530

NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu)

SNV
Germline

Chr19:13208874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239296

rs_778551911

3 SubmittersRCV001368839 RCV001704385

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.3531C>G (p.Pro1177=)

SNV
Germline

Chr19:13286525

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
Condition: not provided
not specified
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240295

rs_184723350

7 SubmittersRCV001089018 RCV002451016 RCV000727896 RCV005239002 RCV003985345

NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)

SNV
Germline

Chr19:13286791

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240371

rs_201311000

9 SubmittersRCV000710948 RCV001080177 RCV001643142 RCV002446750 RCV003985352

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.539+9C>T

SNV
Germline

Chr19:13452867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9241020

rs_369146237

3 SubmittersRCV001214068 RCV001662384

NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)

SNV
Germline

Chr19:13212694

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239512

rs_778274864

5 SubmittersRCV000440064 RCV000791047 RCV001068298 RCV005532646

NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)

SNV
Germline

Chr19:13214276

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239549

rs_199886234

7 SubmittersRCV000439336 RCV000653359 RCV000990165 RCV001083556 RCV002318412

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.3822C>T (p.Asn1274=)

SNV
Germline

Chr19:13283267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240192

rs_201230929

4 SubmittersRCV000697189 RCV000710954 RCV005306010

NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=)

SNV
Germline

Chr19:13298879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240488

rs_371757002

2 SubmittersRCV000432692 RCV000691135

NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His)

SNV
Germline

Chr19:13208805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608108

rs_1057521565

2 SubmittersRCV000444802 RCV001224501

NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)

SNV
Germline

Chr19:13209466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239371

rs_760994682

4 SubmittersRCV000731092 RCV001411308

NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn)

SNV
Germline

Chr19:13212413

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239460

rs_761560224

3 SubmittersRCV000418343 RCV001299494 RCV002356582

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.5940+18C>G

SNV
Germline

Chr19:13214215

Conflicting classifications of pathogenicity

not specified
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA16608118

rs_1057522421

3 SubmittersRCV000428422 RCV002059624 RCV001336212

NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys)

SNV
Germline

Chr19:13286890

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240398

rs_187393245

3 SubmittersRCV000553097 RCV000440421 RCV002318456

NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu)

SNV
Germline

Chr19:13286937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240407

rs_776628272

3 SubmittersRCV000434119 RCV004965460 RCV002522708

NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro)

SNV
Germline

Chr19:13298673

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608158

rs_955869211

3 SubmittersRCV000418250 RCV001058158 RCV003993961

NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)

SNV
Germline

Chr19:13317306

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240830

rs_561858384

9 SubmittersRCV000420690 RCV000658823 RCV000795075 RCV002311506 RCV003319199

NM_001127222.2(CACNA1A):c.1083-11T>C

SNV
Germline

Chr19:13334504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240913

rs_777235021

2 SubmittersRCV000417525 RCV002522471

NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)

SNV
Germline

Chr19:13208767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608876

rs_1057523197

4 SubmittersRCV000427955 RCV002522456 RCV003144262 RCV004601169

NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln)

SNV
Germline

Chr19:13208906

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608878

rs_1006425986

3 SubmittersRCV000424906 RCV001861596 RCV005532647

NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)

SNV
Germline

Chr19:13208935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608886

rs_1032588483

5 SubmittersRCV000443580 RCV000990164 RCV001219860 RCV003168640

NM_001127222.2(CACNA1A):c.6190-3C>A

SNV
Germline

Chr19:13212219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239436

rs_368480650

4 SubmittersRCV001283515 RCV001865355

NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)

SNV
Germline

Chr19:13255188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239969

rs_182161386

3 SubmittersRCV000419668 RCV001233140 RCV003362783

NM_001127222.2(CACNA1A):c.3990-2A>G

SNV
Germline

Chr19:13262835

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16608917

rs_1057524483

2 SubmittersRCV000427802 RCV001377005

NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)

SNV
Germline

Chr19:13298590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240437

rs_190551509

6 SubmittersRCV000440429 RCV000706830 RCV003168701

NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)

SNV
Germline

Chr2:165373330

Pathogenic/Likely pathogenic

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 11

Criteria Provided
Multiple Submitters
No Conflicts

CA1940198

rs_190111194

3 SubmittersRCV000469153 RCV001270400 RCV002510575

NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln)

SNV
Germline

Chr19:13208776

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Condition: not provided
CACNA1A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239269

rs_779063280

4 SubmittersRCV001049031 RCV000484344 RCV003985360 RCV002525881

NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp)

SNV
Germline

Chr19:13208842

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239290

rs_751926317

5 SubmittersRCV000727072 RCV001364178 RCV005532667

NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)

SNV
Germline

Chr19:13208856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620769

rs_1064793075

5 SubmittersRCV000481930 RCV001232171 RCV003323560 RCV005532665

NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys)

SNV
Germline

Chr19:13208857

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239291

rs_757715357

3 SubmittersRCV000478540 RCV001241367

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.6464G>A (p.Arg2155His)

SNV
Germline

Chr19:13209374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620771

rs_572722130

5 SubmittersRCV000761991 RCV002525898 RCV002318579

NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)

SNV
Germline

Chr19:13212171

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239421

rs_752513542

3 SubmittersRCV001865468 RCV000762254

NM_001127222.2(CACNA1A):c.6190-2A>C

SNV
Germline

Chr19:13212218

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620773

rs_1064796709

3 SubmittersRCV000483754 RCV004965497 RCV001379725

NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)

SNV
Germline

Chr19:13214572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239590

rs_771636070

3 SubmittersRCV000485620 RCV003766705

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.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.4042C>T (p.Arg1348Trp)

SNV
Germline

Chr19:13262781

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620787

rs_1064794858

2 SubmittersRCV000486810 RCV003766687

NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)

SNV
Germline

Chr19:13285111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240245

rs_372017604

3 SubmittersRCV001070658 RCV000483313

NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)

SNV
Germline

Chr19:13286526

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240297

rs_201789073

4 SubmittersRCV000479702 RCV001205704 RCV002341143

NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)

SNV
Germline

Chr19:13298766

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240457

rs_551380805

4 SubmittersRCV001431438 RCV000710087

NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)

SNV
Germline

Chr19:13298821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240470

rs_771423362

3 SubmittersRCV001337615 RCV000710942

NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu)

SNV
Germline

Chr19:13298868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620791

rs_752824390

3 SubmittersRCV000481089 RCV001342665 RCV002436540

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.1594G>A (p.Glu532Lys)

SNV
Germline

Chr19:13312743

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620797

rs_1064794263

6 SubmittersRCV000487043 RCV002526562 RCV002470870

NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)

SNV
Germline

Chr19:13332899

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240876

rs_187259531

6 SubmittersRCV000479522 RCV000687506 RCV004023139 RCV004735559

NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val)

SNV
Germline

Chr19:13506220

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620804

rs_927310190

3 SubmittersRCV001362235 RCV001704643 RCV004965495

NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)

SNV
Germline

Chr19:13286509

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240285

rs_373224251

6 SubmittersRCV000488137 RCV000818299 RCV002525994 RCV001262317 RCV005434966

NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr)

SNV
Germline

Chr12:4912319

Likely pathogenic

Condition: not provided
Episodic ataxia type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA383455679

rs_1085308020

4 SubmittersRCV000489690 RCV001782976

NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)

SNV
Germline

Chr19:13212203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239431

rs_769040794

5 SubmittersRCV000624453 RCV001364368 RCV000488982

NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)

SNV
Germline

Chr19:13298754

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240455

rs_762396014

3 SubmittersRCV000489666 RCV001237622 RCV001823144

NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)

SNV
Germline

Chr19:13452889

Conflicting classifications of pathogenicity

Condition: not provided
CACNA1A-related disorder
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA404967427

rs_1057521920

4 SubmittersRCV000489287 RCV003313959 RCV005213303

NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)

SNV
Germline

Chr19:13209371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239355

rs_755749925

5 SubmittersRCV000493640 RCV000692582 RCV002318598 RCV004782403

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.3226G>A (p.Ala1076Thr)

SNV
Germline

Chr19:13286830

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240385

rs_554091859

5 SubmittersRCV000494033 RCV000707375 RCV002323856 RCV004999538

NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser)

SNV
Germline

Chr12:4912561

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA383456228

rs_1135401950

2 SubmittersRCV000496443 RCV004783794

NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)

SNV
Germline

Chr19:13208877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305547478

rs_16052

4 SubmittersRCV000653344 RCV002367677 RCV001707709 RCV005208140

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.2729T>G (p.Leu910Arg)

SNV
Germline

Chr19:13298904

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305506421

rs_953766694

4 SubmittersRCV000497473 RCV001046824 RCV005306044

NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)

SNV
Germline

Chr19:13334435

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240910

rs_773593740

5 SubmittersRCV000504059 RCV002524161 RCV003456403 RCV001301380

NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser)

SNV
Germline

Chr19:13335849

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA305541029

rs_977960069

3 SubmittersRCV000501045 RCV001042082 RCV002051861

NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)

SNV
Germline

Chr2:152098386

Conflicting classifications of pathogenicity

Idiopathic generalized epilepsy
Episodic ataxia type 5
Epilepsy, idiopathic generalized, susceptibility to, 9
not specified
CACNB4-related disorder

Criteria Provided
Conflicting Classifications

CA1912737

rs_773391545

4 SubmittersRCV000685212 RCV000764271 RCV000516317 RCV004535669

NM_000217.3(KCNA1):c.60G>C (p.Gln20His)

SNV
Germline

Chr12:4911438

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA6399336

rs_201504073

4 SubmittersRCV000517963 RCV000639376

NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe)

SNV
Germline

Chr12:4912291

Likely pathogenic

Condition: not provided
Episodic ataxia type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA383455619

rs_1555085761

2 SubmittersRCV000517456 RCV001775128

NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu)

SNV
Germline

Chr12:4912592

Pathogenic

Condition: not provided
Episodic ataxia type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA383456286

rs_1555085798

2 SubmittersRCV000516981 RCV001857907

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.6013G>A (p.Ala2005Thr)

SNV
Germline

Chr19:13212668

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239505

rs_374063403

4 SubmittersRCV000807225 RCV001528226 RCV000518729

NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)

SNV
Germline

Chr19:13235013

Conflicting classifications of pathogenicity

Inborn genetic diseases
CACNA1A-related disorder
not specified
Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA9239809

rs_758409135

6 SubmittersRCV002341204 RCV004735585 RCV000517347 RCV000951188 RCV001078798

NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)

SNV
Germline

Chr19:13253050

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404338184

rs_943715197

3 SubmittersRCV000516355 RCV002527458 RCV004767318

NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro)

SNV
Germline

Chr19:13275928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240146

rs_755279579

3 SubmittersRCV001059864 RCV005051789 RCV000518770

NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu)

SNV
Germline

Chr19:13286673

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA9240341

rs_754208553

2 SubmittersRCV000517393 RCV002525020

NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)

SNV
Germline

Chr19:13286889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240397

rs_200850308

4 SubmittersRCV000518167 RCV000810178 RCV002323878

NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)

SNV
Germline

Chr19:13299242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240559

rs_370746809

2 SubmittersRCV003766909 RCV000517699

NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=)

SNV
Germline

Chr19:13300564

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA505660774

rs_1382705855

2 SubmittersRCV000518538 RCV001500248

NM_001127222.2(CACNA1A):c.1199-9C>T

SNV
Germline

Chr19:13332934

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240881

rs_529977616

3 SubmittersRCV000517959 RCV000904927 RCV001576544

NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg)

SNV
Germline

Chr12:4912504

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA383456100

rs_1555085786

3 SubmittersRCV000522746 RCV000709846

NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)

SNV
Germline

Chr19:13208961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404330599

rs_1325697290

3 SubmittersRCV000521823 RCV001858044 RCV003458453

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.6346T>G (p.Ser2116Ala)

SNV
Germline

Chr19:13209492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239372

rs_576057388

3 SubmittersRCV000520739 RCV001070996

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.5986A>G (p.Thr1996Ala)

SNV
Germline

Chr19:13212695

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239514

rs_141963371

5 SubmittersRCV000694727 RCV000991680 RCV002525162

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.4047G>T (p.Val1349=)

SNV
Germline

Chr19:13262776

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA505660157

rs_1265632174

2 SubmittersRCV000522319 RCV003766969

NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly)

SNV
Germline

Chr19:13286536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305564013

rs_996509493

2 SubmittersRCV000519991 RCV001236106

NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys)

SNV
Germline

Chr19:13298884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305506396

rs_368081042

2 SubmittersRCV000522662 RCV000653339

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_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp)

SNV
Germline

Chr2:165367225

Conflicting classifications of pathogenicity

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Condition: not provided
Inborn genetic diseases
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9
Genetic developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA1940130

rs_115231482

5 SubmittersRCV000551875 RCV001556515 RCV002456120 RCV002265794 RCV005625673

NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met)

SNV
Germline

Chr19:13209459

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239369

rs_368183370

2 SubmittersRCV000532320 RCV002315037

NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg)

SNV
Germline

Chr19:13231850

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404334921

rs_1555737113

3 SubmittersRCV000547039 RCV000622365 RCV001731780

NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)

SNV
Germline

Chr19:13231851

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239766

rs_376684786

4 SubmittersRCV000534550 RCV001505365 RCV002341460

NM_001127222.2(CACNA1A):c.1082+1G>A

SNV
Germline

Chr19:13335805

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404346656

rs_1272886269

2 SubmittersRCV000544536 RCV004722917

NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter)

SNV
Germline

Chr19:13257514

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404339094

rs_1555743942

1 SubmittersRCV000552285

NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=)

SNV
Germline

Chr19:13455161

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9241058

rs_747917423

2 SubmittersRCV000548010 RCV001591298

NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)

SNV
Germline

Chr19:13286512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240286

rs_369742607

6 SubmittersRCV000525516 RCV000710950 RCV005431763 RCV002456255

NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu)

SNV
Germline

Chr19:13298570

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305506122

rs_1038705410

3 SubmittersRCV000529094 RCV003327421 RCV004965575

NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter)

SNV
Germline

Chr19:13308496

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404345184

rs_1555759066

1 SubmittersRCV000528779

NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)

SNV
Germline

Chr19:13365413

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA404348567

rs_1555774859

2 SubmittersRCV000553225 RCV002289769

NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)

SNV
Germline

Chr2:165342455

Pathogenic/Likely pathogenic

Condition: not provided
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
See cases
Autism spectrum disorder
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA349012892

rs_1553578503

6 SubmittersRCV000585495 RCV001055515 RCV002252172 RCV003126828 RCV004783819

NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)

SNV
Germline

Chr19:13285123

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240247

rs_767000559

3 SubmittersRCV000594032 RCV001528103 RCV001854006

NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)

SNV
Germline

Chr19:13230159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239731

rs_188863534

3 SubmittersRCV000726754 RCV001400635

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.6613C>T (p.Arg2205Trp)

SNV
Germline

Chr19:13208923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305547622

rs_780467849

4 SubmittersRCV000594367 RCV000653324 RCV002368016

NM_001127222.2(CACNA1A):c.1782-6C>T

SNV
Germline

Chr19:13308257

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240720

rs_201350764

5 SubmittersRCV000710932 RCV001079776 RCV003985384

NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)

SNV
Germline

Chr19:13365402

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240973

rs_749587119

3 SubmittersRCV000710977 RCV001439451 RCV005000370

NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)

SNV
Germline

Chr19:13230191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404333762

rs_1555736565

8 SubmittersRCV000593477 RCV000818527 RCV002272299 RCV004791617

NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)

SNV
Germline

Chr19:13365468

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases
not specified
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240981

rs_202216404

6 SubmittersRCV000727523 RCV001082686 RCV002311954 RCV004782468 RCV003985385

NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)

SNV
Germline

Chr19:13214305

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239552

rs_371972266

4 SubmittersRCV000727910 RCV001411719 RCV002358731

NM_001127222.2(CACNA1A):c.399+3G>A

SNV
Germline

Chr19:13455104

Conflicting classifications of pathogenicity

not specified
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA658799170

rs_1275496281

2 SubmittersRCV000603579 RCV002528531

NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=)

SNV
Germline

Chr19:13212172

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA9239422

rs_758320697

2 SubmittersRCV000611064 RCV000819435

NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)

SNV
Germline

Chr19:13230191

Likely pathogenic

Generalized hypotonia
Global developmental delay
Strabismus
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404333760

rs_1555736565

2 SubmittersRCV000626755 RCV005213366

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.2191G>T (p.Glu731Ter)

SNV
Germline

Chr19:13300638

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404344014

rs_1555756737

1 SubmittersRCV000653332

NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter)

SNV
Germline

Chr19:13298878

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404342778

rs_1555756130

1 SubmittersRCV000653333

NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln)

SNV
Germline

Chr19:13209389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239362

rs_751044309

3 SubmittersRCV003411551 RCV000653326 RCV002532006

NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys)

SNV
Germline

Chr19:13283302

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404340598

rs_1555751762

3 SubmittersRCV000653321 RCV004702253 RCV005253026

NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr)

SNV
Germline

Chr19:13330262

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305535638

rs_866479368

3 SubmittersRCV000653335 RCV001288482

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.2788C>T (p.Arg930Trp)

SNV
Germline

Chr19:13298845

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240480

rs_367882437

5 SubmittersRCV000658469 RCV000821861 RCV004026033

NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter)

SNV
Germline

Chr19:13299094

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404343230

rs_1420078244

2 SubmittersRCV000657995 RCV001382612

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

SNV
Germline

Chr19:13285067

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404340819

rs_1315533129

1 SubmittersRCV000681661

NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln)

SNV
Germline

Chr2:151839372

Conflicting classifications of pathogenicity

Idiopathic generalized epilepsy
Episodic ataxia type 5
not specified

Criteria Provided
Conflicting Classifications

CA1912359

rs_751754026

3 SubmittersRCV000687371 RCV001136144 RCV004897654

NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)

SNV
Germline

Chr19:13208821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239285

rs_759576380

4 SubmittersRCV000687354 RCV000996772 RCV002360723

NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)

SNV
Germline

Chr19:13209390

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9239363

rs_756780624

4 SubmittersRCV000705442 RCV001091781 RCV003985413

NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)

SNV
Germline

Chr19:13359695

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404347198

rs_1168625480

3 SubmittersRCV000686079 RCV000710984

NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)

SNV
Germline

Chr19:13359752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404347329

rs_1013100046

4 SubmittersRCV000691097 RCV001174531 RCV001731893

NM_001127222.2(CACNA1A):c.4950+1G>T

SNV
Germline

Chr19:13245181

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404337849

rs_1568457080

1 SubmittersRCV000687889

NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)

SNV
Germline

Chr19:13208785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239271

rs_758625682

2 SubmittersRCV000703120 RCV001561162

NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter)

SNV
Germline

Chr19:13212204

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9239432

rs_779221807

2 SubmittersRCV000707561 RCV001092214

NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)

SNV
Germline

Chr19:13235621

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404336552

rs_1568447557

1 SubmittersRCV000706124

NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter)

SNV
Germline

Chr19:13259661

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA404339415

rs_1568470104

2 SubmittersRCV000685695 RCV002274087

NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn)

SNV
Germline

Chr19:13285138

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
CACNA1A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240254

rs_750231498

5 SubmittersRCV000691224 RCV000996787 RCV003985410 RCV004025081

NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)

SNV
Germline

Chr19:13298580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240433

rs_762288499

3 SubmittersRCV000702556 RCV004026599 RCV003480790

NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro)

SNV
Germline

Chr19:13298616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404342242

rs_1268938831

2 SubmittersRCV000688501 RCV001592872

NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)

SNV
Germline

Chr19:13298617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240440

rs_757026025

4 SubmittersRCV000696771 RCV000732666 RCV002533462

NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)

SNV
Germline

Chr19:13298695

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404342406

rs_778978325

3 SubmittersRCV000689874 RCV003238802

NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu)

SNV
Germline

Chr19:13208838

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA404329647

rs_1317740666

2 SubmittersRCV000703398 RCV005318493

NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)

SNV
Germline

Chr19:13298941

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240500

rs_751726770

7 SubmittersRCV000694253 RCV000841214 RCV002267622 RCV002424647 RCV003985411 RCV004702335 RCV005622006

NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)

SNV
Germline

Chr19:13299132

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240542

rs_201666606

6 SubmittersRCV000710938 RCV000707156 RCV003987676 RCV002317926

NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter)

SNV
Germline

Chr19:13317198

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404345739

rs_1568528144

1 SubmittersRCV000694800

NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)

SNV
Germline

Chr19:13262772

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404339987

rs_1568473171

8 SubmittersRCV000709715 RCV002325439 RCV003492153 RCV001784349 RCV005223132

NM_000217.3(KCNA1):c.1311T>G (p.Ser437=)

SNV
Germline

Chr12:4912689

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA478094645

rs_1565433583

2 SubmittersRCV000712100 RCV003626636

NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)

SNV
Germline

Chr19:13212140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305550452

rs_1033214914

6 SubmittersRCV000710973 RCV001053349 RCV004026793

NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)

SNV
Germline

Chr19:13212496

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239478

rs_771768635

4 SubmittersRCV000710969 RCV001333786 RCV001458329

NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)

SNV
Germline

Chr19:13212637

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239498

rs_772988279

3 SubmittersRCV000710967 RCV001868324 RCV002352230

NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)

SNV
Germline

Chr19:13214600

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239596

rs_371957992

2 SubmittersRCV000821878 RCV000710966

NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)

SNV
Germline

Chr19:13262790

Pathogenic

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA404340018

rs_1568473233

6 SubmittersRCV000710958 RCV000815552 RCV002289992 RCV003128416

NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn)

SNV
Germline

Chr19:13275893

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA404340223

rs_1568485068

4 SubmittersRCV000710957 RCV001861955 RCV003985414

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.3532C>A (p.Leu1178Ile)

SNV
Germline

Chr19:13286524

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240293

rs_556266465

4 SubmittersRCV000710949 RCV005532748 RCV002534489

NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)

SNV
Germline

Chr19:13286881

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240395

rs_775079932

5 SubmittersRCV000710947 RCV000796725 RCV002325440

NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys)

SNV
Germline

Chr19:13452976

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404967630

rs_1568659847

3 SubmittersRCV000710961 RCV001390633

NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)

SNV
Germline

Chr2:165389559

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Inborn genetic diseases
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9
Seizures, benign familial infantile, 3

Criteria Provided
Conflicting Classifications

CA1940422

rs_201718767

7 SubmittersRCV000997270 RCV000822218 RCV001329202 RCV002318864 RCV003224383

NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)

SNV
Germline

Chr19:13208880

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239307

rs_772789381

4 SubmittersRCV001348039 RCV001251915 RCV002316052 RCV004692207

NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser)

SNV
Germline

Chr19:13286809

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240377

rs_753077104

2 SubmittersRCV001862067 RCV002316705

NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser)

SNV
Germline

Chr19:13214545

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA404334430

rs_1205866071

2 SubmittersRCV001314944 RCV002318698

NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln)

SNV
Germline

Chr19:13259660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240036

rs_369440853

3 SubmittersRCV001574395 RCV001868348 RCV002313517

NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)

SNV
Germline

Chr19:13317121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240792

rs_185034915

4 SubmittersRCV001248296 RCV002315423 RCV003482301

NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)

SNV
Germline

Chr19:13208820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239284

rs_753798870

3 SubmittersRCV002313558 RCV001868349 RCV004569408

NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=)

SNV
Germline

Chr19:13208867

Conflicting classifications of pathogenicity

Inborn genetic diseases
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA305547440

rs_2304094

2 SubmittersRCV002312479 RCV002532995

NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)

SNV
Germline

Chr19:13286635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240322

rs_780535727

3 SubmittersRCV000791955 RCV000991671 RCV002318274

NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)

SNV
Germline

Chr19:13286791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240372

rs_201311000

5 SubmittersRCV001577172 RCV001053950 RCV002318203 RCV005055368

NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)

SNV
Germline

Chr19:13208871

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA404329803

rs_1336146310

2 SubmittersRCV001343264 RCV002316118

NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro)

SNV
Germline

Chr19:13335821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404346689

rs_1568546568

2 SubmittersRCV000728587 RCV001862154

NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)

SNV
Germline

Chr19:13212432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239463

rs_760682283

3 SubmittersRCV000733903 RCV001087917 RCV004997260

NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter)

SNV
Germline

Chr19:13277108

Pathogenic

Episodic ataxia type 2

No Assertion Criteria Provided

CA404340467

rs_774224202

1 SubmittersRCV000754874

NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)

SNV
Germline

Chr19:13212175

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Tip-toe gait
See cases

Criteria Provided
Conflicting Classifications

CA9239424

rs_751515136

6 SubmittersRCV000762255 RCV000822815 RCV003320369 RCV002252233

NM_001371246.1(SCN2A):c.687T>C (p.Ser229=)

SNV
Germline

Chr2:165309246

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Condition: not provided
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9
Seizures, benign familial infantile, 3

Criteria Provided
Conflicting Classifications

CA1939657

rs_746904068

2 SubmittersRCV000768307 RCV001797139 RCV003224451

NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)

SNV
Germline

Chr19:13259581

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240028

rs_368100270

3 SubmittersRCV001759476 RCV000781966 RCV001214082

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_001040142.2(SCN2A):c.1561G>C (p.Asp521His)

SNV
Germline

Chr2:165315648

Conflicting classifications of pathogenicity

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 11

Criteria Provided
Conflicting Classifications

CA349023598

rs_1574572514

2 SubmittersRCV000801483 RCV001836891 RCV001844237

NM_000217.3(KCNA1):c.136C>A (p.Leu46Met)

SNV
Germline

Chr12:4911514

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Condition: not provided
Inborn genetic diseases
not specified
KCNA1-related disorder

Criteria Provided
Conflicting Classifications

CA6399349

rs_149959487

5 SubmittersRCV000792773 RCV001289073 RCV003362939 RCV004997317 RCV004549866

NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)

SNV
Germline

Chr19:13208856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404329734

rs_1064793075

4 SubmittersRCV000796030 RCV001578054 RCV002537017

NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)

SNV
Germline

Chr19:13209354

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239346

rs_17846928

5 SubmittersRCV000796072 RCV001531292 RCV002534592 RCV003768490

NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)

SNV
Germline

Chr19:13210640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239389

rs_771030765

4 SubmittersRCV001507934 RCV000797445

NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter)

SNV
Germline

Chr19:13235227

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404335836

rs_1600139005

1 SubmittersRCV000799538

NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter)

SNV
Germline

Chr19:13235625

Pathogenic/Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404336577

rs_1600139781

2 SubmittersRCV000817571 RCV001706710

NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val)

SNV
Germline

Chr19:13286524

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240292

rs_556266465

2 SubmittersRCV000824333 RCV004029175

NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser)

SNV
Germline

Chr19:13286592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404341317

rs_992828062

2 SubmittersRCV000823191 RCV003232129

NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)

SNV
Germline

Chr19:13286688

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240348

rs_769497214

2 SubmittersRCV000800578 RCV003332257

NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr)

SNV
Germline

Chr19:13286818

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240381

rs_577581172

2 SubmittersRCV000819064 RCV004761821

NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)

SNV
Germline

Chr19:13286823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240382

rs_748935741

4 SubmittersRCV000807271 RCV001507936 RCV005418356

NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu)

SNV
Germline

Chr19:13298850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240481

rs_754998423

3 SubmittersRCV000797425 RCV002537045 RCV002508258

NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter)

SNV
Germline

Chr19:13299225

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404343518

rs_1600274038

1 SubmittersRCV000806243

NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter)

SNV
Germline

Chr19:13303849

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404344434

rs_940460024

1 SubmittersRCV000796048

NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)

SNV
Germline

Chr19:13308150

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404344774

rs_1600292507

3 SubmittersRCV000793441 RCV001031011 RCV005367559

NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter)

SNV
Germline

Chr19:13317233

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404345815

rs_767432719

1 SubmittersRCV000814263

NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)

SNV
Germline

Chr19:13371727

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
CACNA1A-related complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404350907

rs_886042230

5 SubmittersRCV000805379 RCV001727802 RCV000991679 RCV004789205

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.5940+5G>A

SNV
Germline

Chr19:13214228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239539

rs_780060495

3 SubmittersRCV000816712 RCV001576675 RCV002352434

NM_001127222.2(CACNA1A):c.6303+1G>A

SNV
Germline

Chr19:13212102

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404332053

rs_1600088360

1 SubmittersRCV000826158

NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)

SNV
Germline

Chr19:13214329

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239559

rs_368203745

3 SubmittersRCV000841634 RCV001372792

NM_001127222.2(CACNA1A):c.2172+14G>A

SNV
Germline

Chr19:13303532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA505660834

rs_1195908031

3 SubmittersRCV000841941 RCV001809859 RCV002536143

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.1262G>A (p.Arg421Gln)

SNV
Germline

Chr19:13330327

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240853

rs_752902118

2 SubmittersRCV000908328 RCV003145234

NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)

SNV
Germline

Chr19:13208867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239293

rs_2304094

4 SubmittersRCV000940459 RCV001523752 RCV002363438

NM_001127222.2(CACNA1A):c.924G>A (p.Val308=)

SNV
Germline

Chr19:13359660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240942

rs_754935637

2 SubmittersRCV000935937 RCV001498044

NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=)

SNV
Germline

Chr19:13359671

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA505660918

rs_1599276914

3 SubmittersRCV000939153 RCV004735899 RCV003151824

NM_001127222.2(CACNA1A):c.2172+8C>T

SNV
Germline

Chr19:13303538

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240619

rs_200277127

2 SubmittersRCV001452950 RCV002544534

NM_001127222.2(CACNA1A):c.4389-5T>C

SNV
Germline

Chr19:13257556

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA305537447

rs_896214992

2 SubmittersRCV001405152 RCV002332904

NM_001040142.2(SCN2A):c.1384-2A>G

SNV
Germline

Chr2:165315469

Likely pathogenic

Seizures, benign familial infantile, 3
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA349022622

rs_1574571769

2 SubmittersRCV000986852 RCV002468609

NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met)

SNV
Unknown

Chr19:13262778

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404339999

rs_1600198481

1 SubmittersRCV000990166

NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)

SNV
Germline

Chr19:13303587

Pathogenic/Likely pathogenic

Episodic ataxia type 2
Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404344184

rs_1568514116

3 SubmittersRCV000990168 RCV001267553 RCV001368840

NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys)

SNV
Germline

Chr19:13335829

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404346704

rs_1568546593

3 SubmittersRCV000990170 RCV005213418 RCV004777914

NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)

SNV
Unknown

Chr19:13365448

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404348657

rs_121908225

1 SubmittersRCV000990172

NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala)

SNV
Unknown

Chr19:13365457

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404348674

rs_1599292631

1 SubmittersRCV000990173

NM_004172.5(SLC1A3):c.279G>A (p.Gln93=)

SNV
Germline

Chr5:36629547

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 6

Criteria Provided
Conflicting Classifications

CA3235407

rs_375527461

4 SubmittersRCV000993020 RCV001154684

NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile)

SNV
Germline

Chr19:13286754

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240367

rs_768567834

4 SubmittersRCV000991670 RCV001339446 RCV003333114

NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)

SNV
Germline

Chr19:13286828

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9240383

rs_373678395

5 SubmittersRCV000991669 RCV001417455 RCV002320203 RCV003985474

NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu)

SNV
Germline

Chr19:13359683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404347149

rs_1599276954

2 SubmittersRCV000991687 RCV002550629

NM_001127222.2(CACNA1A):c.2105-2A>G

SNV
Germline

Chr19:13303615

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA305508429

rs_906086634

2 SubmittersRCV000991663 RCV003769308

NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)

SNV
Germline

Chr19:13209372

Conflicting classifications of pathogenicity

Condition: not provided
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
EEG with focal epileptiform discharges

Criteria Provided
Conflicting Classifications

CA305548115

rs_554393704

5 SubmittersRCV000996776 RCV001057739 RCV001537639

NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)

SNV
Germline

Chr19:13214530

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239584

rs_771104002

5 SubmittersRCV000996781 RCV001038105 RCV002354907 RCV001823176

NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)

SNV
Germline

Chr19:13298653

Pathogenic/Likely pathogenic

Condition: not provided
Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404342322

rs_1600271575

5 SubmittersRCV000996790 RCV001029965 RCV002549952 RCV004554843

NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter)

SNV
Germline

Chr19:13299082

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404343205

rs_1600273534

2 SubmittersRCV000996792 RCV001050623

NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)

SNV
Germline

Chr19:13308157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404344790

rs_1346036017

5 SubmittersRCV000996793 RCV002409326 RCV002550702 RCV003314656

NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg)

SNV
Germline

Chr19:13365409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404348545

rs_1599292506

3 SubmittersRCV000996800 RCV003769357 RCV001706714

NM_001127222.2(CACNA1A):c.4591-2A>G

SNV
Germline

Chr19:13255261

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404338695

rs_1600180659

1 SubmittersRCV000995711

NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg)

SNV
Germline

Chr2:152098972

Conflicting classifications of pathogenicity

Idiopathic generalized epilepsy
Episodic ataxia type 5

Criteria Provided
Conflicting Classifications

CA1912792

rs_573977862

2 SubmittersRCV001044614 RCV001131841

NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly)

SNV
Germline

Chr19:13208923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239322

rs_780467849

2 SubmittersRCV001043760 RCV003117719

NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp)

SNV
Germline

Chr19:13210625

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404331287

rs_1162464868

2 SubmittersRCV001072009 RCV001819797

NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser)

SNV
Germline

Chr19:13212195

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9239430

rs_370514102

4 SubmittersRCV001041193 RCV004735933 RCV003886470 RCV004702595

NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)

SNV
Germline

Chr19:13212411

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239459

rs_774164327

2 SubmittersRCV001041789 RCV002552503

NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu)

SNV
Germline

Chr19:13212433

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239464

rs_539347883

3 SubmittersRCV001066054 RCV003222214 RCV002554480

NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)

SNV
Germline

Chr19:13212472

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239472

rs_369555957

2 SubmittersRCV001062812 RCV001552668

NM_001127221.2(CACNA1A):c.5569C>T (p.Arg1857Ter)

SNV
Germline

Chr19:13228758

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
CACNA1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404331536

rs_1296262946

3 SubmittersRCV001063625 RCV001664653 RCV003985479

NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)

SNV
Germline

Chr19:13230133

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404333515

rs_2055610097

3 SubmittersRCV001066982 RCV001759838 RCV002250722

NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)

SNV
Germline

Chr19:13235648

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Intellectual disability

Criteria Provided
Single Submitter

CA404336679

rs_2055849544

2 SubmittersRCV001039877 RCV001251920

NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter)

SNV
Germline

Chr19:13261451

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404339522

rs_2056733130

2 SubmittersRCV001069607 RCV001664659

NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu)

SNV
Germline

Chr19:13286646

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240330

rs_200333359

2 SubmittersRCV001044375 RCV003405242

NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp)

SNV
Germline

Chr19:13286689

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240349

rs_775079497

2 SubmittersRCV001044974 RCV002286803

NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys)

SNV
Germline

Chr19:13298598

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240438

rs_573941336

2 SubmittersRCV001049225 RCV002436596

NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)

SNV
Germline

Chr19:13298616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404342241

rs_1268938831

2 SubmittersRCV001039699 RCV002305562

NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter)

SNV
Germline

Chr19:13308453

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404345093

rs_2057953268

3 SubmittersRCV001052581 RCV001567380

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.1427G>A (p.Arg476His)

SNV
Germline

Chr19:13317240

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240814

rs_755107633

3 SubmittersRCV001048359 RCV001570122

NM_001127222.2(CACNA1A):c.5134-3C>T

SNV
Germline

Chr19:13235039

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239812

rs_576141199

2 SubmittersRCV001042668 RCV001538109

NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)

SNV
Germline

Chr2:165388755

Pathogenic/Likely pathogenic

Condition: not provided
Episodic ataxia, type 9
Complex neurodevelopmental disorder
Developmental and epileptic encephalopathy, 11

Criteria Provided
Multiple Submitters
No Conflicts

CA349037848

rs_1702008435

4 SubmittersRCV001090355 RCV001200929 RCV001265319 RCV001260973

NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)

SNV
Germline

Chr19:13210639

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239388

rs_373229577

2 SubmittersRCV001091782 RCV001862700

NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)

SNV
Germline

Chr19:13286559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240304

rs_746222908

2 SubmittersRCV001092217 RCV003769023

NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)

SNV
Germline

Chr19:13317298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240828

rs_774203605

4 SubmittersRCV001092224 RCV003283970 RCV001862706 RCV005436985

NM_000217.3(KCNA1):c.1086T>C (p.Ala362=)

SNV
Germline

Chr12:4912464

Conflicting classifications of pathogenicity

Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA478094739

rs_1264032724

2 SubmittersRCV001109177

NM_004172.5(SLC1A3):c.650T>C (p.Val217Ala)

SNV
Germline

Chr5:36676974

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3235513

rs_772789166

2 SubmittersRCV001155516 RCV001882488

NM_004172.5(SLC1A3):c.921G>T (p.Met307Ile)

SNV
Germline

Chr5:36679687

Conflicting classifications of pathogenicity

Episodic ataxia type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3235574

rs_761842691

2 SubmittersRCV001157201 RCV002558372

NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)

SNV
Germline

Chr19:13298829

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240473

rs_768048563

3 SubmittersRCV001198374 RCV001859203 RCV001751363

NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)

SNV
Germline

Chr19:13317229

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404345805

rs_1189054127

3 SubmittersRCV001200624 RCV003770232 RCV004819239

NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)

SNV
Germline

Chr2:165310468

Pathogenic

Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349018333

rs_1553567991

4 SubmittersRCV001217698 RCV001270381 RCV005057111 RCV003238322

NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)

SNV
Germline

Chr19:13208786

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239272

rs_375958273

2 SubmittersRCV001586061 RCV001218404

NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys)

SNV
Germline

Chr19:13209375

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239358

rs_766661019

2 SubmittersRCV004820181 RCV001218332

NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)

SNV
Germline

Chr19:13209480

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404331134

rs_2054721635

3 SubmittersRCV001216762 RCV002274151 RCV003414012

NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)

SNV
Germline

Chr19:13255136

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404338409

rs_2056510928

4 SubmittersRCV001216392 RCV001586058 RCV002249808

NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met)

SNV
Germline

Chr19:13259589

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA404339250

rs_121908237

2 SubmittersRCV001217912 RCV004587073

NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp)

SNV
Germline

Chr19:13298956

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA404342942

rs_1262547488

2 SubmittersRCV002436848 RCV001220274

NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr)

SNV
Germline

Chr19:13308521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240753

rs_767207007

2 SubmittersRCV001218393 RCV004822325

NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter)

SNV
Germline

Chr19:13317129

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404345590

rs_2058143736

2 SubmittersRCV001223292 RCV002471049

NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His)

SNV
Germline

Chr19:13209356

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9239348

rs_769503871

2 SubmittersRCV001207392 RCV003985485

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.3574G>A (p.Asp1192Asn)

SNV
Germline

Chr19:13285186

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240265

rs_773649403

2 SubmittersRCV001209978 RCV004768922

NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)

SNV
Germline

Chr19:13286950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240414

rs_762343454

2 SubmittersRCV001210979 RCV001760183

NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro)

SNV
Germline

Chr19:13299033

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA305506494

rs_754326939

2 SubmittersRCV001206934 RCV002436797

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_000217.3(KCNA1):c.520G>A (p.Val174Ile)

SNV
Germline

Chr12:4911898

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA383454742

rs_104894349

2 SubmittersRCV001232347 RCV004809540

NM_001127221.2(CACNA1A):c.5532C>A (p.Cys1844Ter)

SNV
Germline

Chr19:13228795

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404331965

rs_765557914

2 SubmittersRCV001226545 RCV001819923

NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn)

SNV
Germline

Chr19:13299329

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240572

rs_771905201

2 SubmittersRCV001236844 RCV004570599

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.3122G>T (p.Gly1041Val)

SNV
Germline

Chr19:13286934

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240405

rs_370396470

3 SubmittersRCV001247951 RCV002322162 RCV004769966

NM_001127222.2(CACNA1A):c.2813G>T (p.Gly938Val)

SNV
Germline

Chr19:13298820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240469

rs_747413278

2 SubmittersRCV001248018 RCV004800753

NM_001127222.2(CACNA1A):c.4389-1G>C

SNV
Germline

Chr19:13257552

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404339183

rs_1360397142

1 SubmittersRCV001226222

NM_001127222.2(CACNA1A):c.3089+1G>A

SNV
Germline

Chr19:13298543

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404342090

rs_2057717676

1 SubmittersRCV001234689

NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)

SNV
Germline

Chr2:165309366

Likely pathogenic

Seizures, benign familial infantile, 3
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA349017330

rs_1064796691

2 SubmittersRCV001253523 RCV003989658

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.3989+1G>C

SNV
Germline

Chr19:13275849

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404340125

rs_587776693

1 SubmittersRCV001260992

NM_001127222.2(CACNA1A):c.4089+2T>G

SNV
Unknown

Chr19:13262732

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404339902

rs_1600198365

1 SubmittersRCV001261167

NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)

SNV
Germline

Chr2:165308782

Likely pathogenic

Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3
Complex neurodevelopmental disorder
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9

No Assertion Criteria Provided

CA349016760

rs_1697272829

2 SubmittersRCV001265268 RCV003313202

NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)

SNV
Germline

Chr2:165323303

Pathogenic

Inborn genetic diseases
Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Condition: not provided
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA1939874

rs_746060762

6 SubmittersRCV001266046 RCV001265488 RCV001390103 RCV001780218 RCV002499455

NM_000217.3(KCNA1):c.1213C>G (p.Pro405Ala)

SNV
Germline

Chr12:4912591

Likely pathogenic

Inborn genetic diseases
Episodic ataxia type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA383456282

rs_1947358808

2 SubmittersRCV001266903 RCV002290674

NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter)

SNV
Germline

Chr19:13299109

Pathogenic

Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404343264

rs_767534576

2 SubmittersRCV001266453 RCV001880119

NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys)

SNV
Germline

Chr19:13303872

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404344495

rs_2057842904

3 SubmittersRCV001268015 RCV001380079

NM_001040142.2(SCN2A):c.4822+1G>A

SNV
Germline

Chr2:165387017

Likely pathogenic

Episodic ataxia, type 9
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11

No Assertion Criteria Provided

CA349036979

rs_2468150265

1 SubmittersRCV001270369

NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)

SNV
Germline

Chr19:13262796

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404340029

rs_2056768058

2 SubmittersRCV001281101 RCV001368887

NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met)

SNV
Germline

Chr19:13235012

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239808

rs_537982877

3 SubmittersRCV001289288 RCV001436395

NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)

SNV
Germline

Chr19:13308248

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404344990

rs_2057948502

3 SubmittersRCV001288484 RCV003294188 RCV001871718

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.6460C>T (p.Arg2154Trp)

SNV
Germline

Chr19:13209378

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404330835

rs_1374160355

3 SubmittersRCV001304925 RCV001815537 RCV002543117

NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp)

SNV
Germline

Chr19:13259628

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404339333

rs_2056674737

1 SubmittersRCV001308810

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.2872C>A (p.His958Asn)

SNV
Germline

Chr19:13298761

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305506243

rs_923472334

3 SubmittersRCV001298659 RCV002305593 RCV002437014

NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His)

SNV
Germline

Chr19:13317225

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240810

rs_763944721

2 SubmittersRCV001299627 RCV002393709

NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg)

SNV
Germline

Chr19:13365413

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404348566

rs_1555774859

1 SubmittersRCV001301264

NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln)

SNV
Germline

Chr19:13208814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239281

rs_773057074

2 SubmittersRCV001316387 RCV002276688

NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)

SNV
Germline

Chr19:13230184

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404333747

rs_2055612479

1 SubmittersRCV001319286

NM_001127222.2(CACNA1A):c.5401-3C>T

SNV
Germline

Chr19:13230212

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239737

rs_375947967

2 SubmittersRCV001314022 RCV001540441

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.905A>G (p.Asp302Gly)

SNV
Germline

Chr19:13359679

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404347135

rs_2059067761

2 SubmittersRCV001318930 RCV003318680

NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)

SNV
Germline

Chr19:13506022

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9241087

rs_576099495

3 SubmittersRCV001312855 RCV001531295

NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu)

SNV
Germline

Chr19:13286526

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA9240299

rs_201789073

2 SubmittersRCV001328545 RCV001863186

NM_001127222.2(CACNA1A):c.3039C>G (p.Tyr1013Ter)

SNV
Germline

Chr19:13298594

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404342198

rs_1568507151

1 SubmittersRCV001328544

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.6771G>A (p.Ala2257=)

SNV
Germline

Chr19:13208765

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA505659167

rs_753884600

2 SubmittersRCV001333787 RCV002546650

NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter)

SNV
Germline

Chr19:13299151

Pathogenic

Episodic ataxia type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404343358

rs_2057736834

2 SubmittersRCV001336208 RCV004800979

NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys)

SNV
Germline

Chr19:13283389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240206

rs_781738239

4 SubmittersRCV001342238 RCV002546954 RCV004727168

NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His)

SNV
Germline

Chr19:13285134

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240252

rs_374286965

2 SubmittersRCV001347887 RCV002456508

NM_001040142.2(SCN2A):c.3530G>A (p.Arg1177Gln)

SNV
Germline

Chr2:165367226

Conflicting classifications of pathogenicity

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1940131

rs_773202451

3 SubmittersRCV001369282 RCV004762131 RCV001820072

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_001127221.2(CACNA1A):c.5555T>C (p.Met1852Thr)

SNV
Germline

Chr19:13228772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239690

rs_368791169

2 SubmittersRCV001369302 RCV002285480

NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met)

SNV
Germline

Chr19:13286685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240347

rs_374720207

4 SubmittersRCV001361891 RCV003482367 RCV005532978

NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His)

SNV
Germline

Chr19:13298937

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA404342904

rs_1290079536

2 SubmittersRCV001373706 RCV004601485

NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr)

SNV
Germline

Chr19:13308151

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA9240707

rs_577006493

1 SubmittersRCV001359986

NM_001127222.2(CACNA1A):c.5840-2A>T

SNV
Germline

Chr19:13214335

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404334223

rs_2144536202

1 SubmittersRCV001378180

NM_001127222.2(CACNA1A):c.4866+1G>T

SNV
Germline

Chr19:13252990

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404338052

rs_2144725957

2 SubmittersRCV001377850 RCV003322621

NM_001127222.2(CACNA1A):c.540-1G>C

SNV
Germline

Chr19:13371780

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404351408

rs_2144559526

1 SubmittersRCV001379527

NM_001127222.2(CACNA1A):c.399+1G>A

SNV
Germline

Chr19:13455106

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
CACNA1A-related disorder

Criteria Provided
Single Submitter

CA404967737

rs_2060983144

2 SubmittersRCV001377033 RCV004734160

NM_001040142.2(SCN2A):c.4543C>T (p.Arg1515Ter)

SNV
Germline

Chr2:165381189

Pathogenic

Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA349034969

rs_1365774406

2 SubmittersRCV001387540 RCV005410934

NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter)

SNV
Germline

Chr19:13209467

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404331086

rs_2144506487

1 SubmittersRCV001388667

NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser)

SNV
Germline

Chr19:13257426

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404338889

rs_2144748340

1 SubmittersRCV001380077

NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter)

SNV
Germline

Chr19:13299232

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404343529

rs_1231997862

1 SubmittersRCV001388196

NM_001127222.2(CACNA1A):c.4756-4C>T

SNV
Germline

Chr19:13253105

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
not specified

Criteria Provided
Conflicting Classifications

CA9239936

rs_199841998

2 SubmittersRCV001393578 RCV005237778

NM_001127222.2(CACNA1A):c.1256-9T>C

SNV
Germline

Chr19:13330342

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240854

rs_758786727

2 SubmittersRCV001410143 RCV001751758

NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val)

SNV
Germline

Chr12:4912565

Pathogenic/Likely pathogenic

Episodic kinesigenic dyskinesia
Episodic ataxia type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA383456234

rs_2137673958

3 SubmittersRCV001449664 RCV001859333

NM_001127222.2(CACNA1A):c.5839+10G>A

SNV
Germline

Chr19:13214491

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9239579

rs_371733571

3 SubmittersRCV001664880 RCV001440062 RCV003985497

NM_001127222.2(CACNA1A):c.1914-5T>C

SNV
Germline

Chr19:13307859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2499225391

rs_2145002415

2 SubmittersRCV001433973 RCV004998895

NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=)

SNV
Germline

Chr19:13506063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9241089

rs_762262807

2 SubmittersRCV001443407 RCV001786485

NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)

SNV
Germline

Chr19:13300631

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA404343998

rs_1335209785

5 SubmittersRCV001468691 RCV001762691 RCV004734203

NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)

SNV
Germline

Chr19:13455205

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404967957

rs_886037944

2 SubmittersRCV001544846 RCV001882616

NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp)

SNV
Germline

Chr19:13298670

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404342360

rs_1271411894

2 SubmittersRCV001551158 RCV002032584

NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)

SNV
Germline

Chr19:13286691

Conflicting classifications of pathogenicity

Condition: not provided
SUDDEN INFANT DEATH SYNDROME
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA9240350

rs_201647627

3 SubmittersRCV001564629 RCV001788589 RCV001882665

NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)

SNV
Germline

Chr19:13298820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305506307

rs_747413278

3 SubmittersRCV001574150 RCV001839050 RCV002573226

NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu)

SNV
Germline

Chr19:13371714

Pathogenic/Likely pathogenic

Condition: not provided
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404350845

rs_2144559262

2 SubmittersRCV001575419 RCV002246439

NM_001127222.2(CACNA1A):c.5401-13G>A

SNV
Germline

Chr19:13230222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2499225384

rs_2144622540

2 SubmittersRCV001583892 RCV001866176

NM_001127222.2(CACNA1A):c.6340-7C>A

SNV
Germline

Chr19:13209505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239374

rs_765609971

3 SubmittersRCV001663405 RCV001859423

NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)

SNV
Germline

Chr19:13261526

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA404339701

rs_794727411

2 SubmittersRCV001706925 RCV003771862

NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=)

SNV
Germline

Chr19:13505955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9241078

rs_371957971

2 SubmittersRCV001758072 RCV002074002

NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)

SNV
Germline

Chr19:13303845

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404344424

rs_2144980758

5 SubmittersRCV001758187 RCV001882838 RCV004555884

NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)

SNV
Germline

Chr19:13235703

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9239858

rs_779576853

3 SubmittersRCV001763278 RCV002034491 RCV004584441

NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His)

SNV
Germline

Chr19:13235666

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404336785

rs_1057519429

3 SubmittersRCV001766896 RCV001810309 RCV005213566

NM_001127222.2(CACNA1A):c.6051-9C>G

SNV
Germline

Chr19:13212531

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA783415444

rs_1268738297

2 SubmittersRCV001767154 RCV005225465

NM_001127222.2(CACNA1A):c.6051-7C>G

SNV
Germline

Chr19:13212529

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA993704827

rs_776664699

2 SubmittersRCV001772627 RCV003771969

NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg)

SNV
Germline

Chr19:13298824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240472

rs_746428515

2 SubmittersRCV001756812 RCV001882896

NM_001127221.2(CACNA1A):c.5578T>C (p.Ser1860Pro)

SNV
Germline

Chr19:13228749

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239689

rs_374688464

2 SubmittersRCV001752610 RCV002539145

NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)

SNV
Germline

Chr19:13300574

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305507065

rs_535900273

3 SubmittersRCV001815092 RCV002542463 RCV003146244

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_001040142.2(SCN2A):c.5589G>C (p.Lys1863Asn)

SNV
Germline

Chr2:165389395

Conflicting classifications of pathogenicity

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Inborn genetic diseases
Episodic ataxia, type 9
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11

Criteria Provided
Conflicting Classifications

CA1940405

rs_760733246

3 SubmittersRCV001920581 RCV004043326 RCV004796681

NM_000217.3(KCNA1):c.1126G>A (p.Gly376Ser)

SNV
Germline

Chr12:4912504

Pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383456101

rs_1555085786

1 SubmittersRCV001918958

NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)

SNV
Germline

Chr19:13209369

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305548082

rs_1042634748

3 SubmittersRCV001965187 RCV002285518

NM_001127222.2(CACNA1A):c.5839+1G>C

SNV
Germline

Chr19:13214500

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404334247

rs_951196653

1 SubmittersRCV001991990

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.4175T>C (p.Val1392Ala)

SNV
Germline

Chr19:13261525

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

CA404339699

rs_2144767386

2 SubmittersRCV002034426 RCV002466277

NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)

SNV
Germline

Chr19:13235220

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404335822

rs_2144647855

1 SubmittersRCV001964248

NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser)

SNV
Germline

Chr19:13506016

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9241086

rs_749526415

2 SubmittersRCV001901839 RCV002422915

NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp)

SNV
Germline

Chr19:13214277

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404334088

rs_1269205597

2 SubmittersRCV002019267 RCV004763300

NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)

SNV
Germline

Chr19:13298752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404342531

rs_1406066197

3 SubmittersRCV001911086 RCV002266051 RCV005603748

NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=)

SNV
Germline

Chr19:13208975

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA505659351

rs_371116746

2 SubmittersRCV001977562 RCV002361329

NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg)

SNV
Germline

Chr19:13312722

Pathogenic/Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided
CACNA1A-related complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404345394

rs_2145030587

3 SubmittersRCV002008523 RCV003313258 RCV004785433

NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)

SNV
Germline

Chr19:13224762

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305559041

rs_1010331313

2 SubmittersRCV001964303 RCV003229078

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_000217.3(KCNA1):c.1201G>A (p.Ala401Thr)

SNV
Germline

Chr12:4912579

Conflicting classifications of pathogenicity

Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA383456261

rs_2137673966

2 SubmittersRCV002007815

NM_000217.3(KCNA1):c.631A>G (p.Ile211Val)

SNV
Germline

Chr12:4912009

Conflicting classifications of pathogenicity

Episodic ataxia type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6399407

rs_775789299

3 SubmittersRCV001920018 RCV004631801

NM_000217.3(KCNA1):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr12:4912228

Pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383455485

rs_2137673640

1 SubmittersRCV001994622

NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr)

SNV
Germline

Chr19:13359769

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
CACNA1A-related disorder
Hereditary episodic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA9240955

rs_771682941

3 SubmittersRCV001942154 RCV002291304 RCV004782836

NM_001127221.2(CACNA1A):c.5585C>T (p.Pro1862Leu)

SNV
Germline

Chr19:13228742

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404331501

rs_2144616690

1 SubmittersRCV002037295

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.507G>A (p.Trp169Ter)

SNV
Germline

Chr19:13452908

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404967473

rs_2144936148

2 SubmittersRCV001900649 RCV002473313

NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp)

SNV
Germline

Chr19:13234955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404335590

rs_2144646626

2 SubmittersRCV001993488 RCV003314713

NM_001127222.2(CACNA1A):c.3989+1G>T

SNV
Germline

Chr19:13275849

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404340126

rs_587776693

1 SubmittersRCV001956124

NM_001127222.2(CACNA1A):c.5940+1G>A

SNV
Germline

Chr19:13214232

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404333882

rs_2144535495

1 SubmittersRCV002000901

NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln)

SNV
Germline

Chr19:13298555

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404342116

rs_1202322408

2 SubmittersRCV001930737 RCV002254972

NM_001127222.2(CACNA1A):c.1345+1G>A

SNV
Germline

Chr19:13330243

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404346026

rs_2145114772

1 SubmittersRCV002023157

NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys)

SNV
Germline

Chr19:13209357

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404330797

rs_1198604369

4 SubmittersRCV002361210 RCV001935221 RCV005051928

NM_001127222.2(CACNA1A):c.5840-2A>G

SNV
Germline

Chr19:13214335

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404334224

rs_2144536202

1 SubmittersRCV002048449

NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp)

SNV
Germline

Chr19:13299199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240553

rs_369084322

2 SubmittersRCV001899161 RCV003238877

NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter)

SNV
Germline

Chr19:13255251

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404338671

rs_2144735303

1 SubmittersRCV001935935

NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn)

SNV
Germline

Chr19:13455139

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9241055

rs_753467037

3 SubmittersRCV001889698 RCV003985529 RCV004779174

NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter)

SNV
Germline

Chr19:13312760

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404345483

rs_2145030772

1 SubmittersRCV001958765

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.294-1C>A

SNV
Germline

Chr19:13455213

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404967986

rs_1568662077

1 SubmittersRCV002012394

NM_001127222.2(CACNA1A):c.5068-1G>A

SNV
Germline

Chr19:13235275

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404335948

rs_2144648058

1 SubmittersRCV002038382

NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu)

SNV
Germline

Chr19:13286709

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240356

rs_760744104

2 SubmittersRCV002138583 RCV004603172

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.6189+1G>A

SNV
Germline

Chr19:13212383

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404332597

rs_2144524396

2 SubmittersRCV002244485 RCV003774696

NM_001127222.2(CACNA1A):c.2720A>G (p.Glu907Gly)

SNV
Germline

Chr19:13298913

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA404342853

rs_2144955398

2 SubmittersRCV002247876 RCV005213627

NM_000217.3(KCNA1):c.321C>T (p.Asn107=)

SNV
Germline

Chr12:4911699

Conflicting classifications of pathogenicity

See cases
Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA231855499

rs_1025376971

2 SubmittersRCV002252518 RCV003094149

NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys)

SNV
Germline

Chr12:4912225

Pathogenic

Episodic ataxia type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA383455476

rs_2137673633

2 SubmittersRCV002267675

NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr)

SNV
Germline

Chr12:4912163

Pathogenic/Likely pathogenic

Episodic ataxia type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA383455335

rs_2137673584

2 SubmittersRCV002271791 RCV003482403

NM_001040142.2(SCN2A):c.4789T>C (p.Phe1597Leu)

SNV
Germline

Chr2:165386983

Pathogenic

Episodic ataxia, type 9

No Assertion Criteria Provided

CA349036863

rs_2468150164

1 SubmittersRCV002281616

NM_001127222.2(CACNA1A):c.4314T>G (p.Tyr1438Ter)

SNV
Germline

Chr19:13259638

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404339360

rs_770679527

1 SubmittersRCV002282720

NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu)

SNV
Germline

Chr19:13286691

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA9240351

rs_201647627

2 SubmittersRCV002454816 RCV003099428

NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu)

SNV
Germline

Chr19:13286882

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA9240396

rs_752075131

2 SubmittersRCV002322693 RCV003099264

NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)

SNV
Germline

Chr19:13212141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239418

rs_200093958

3 SubmittersRCV002368640 RCV003098184 RCV003408248

NM_001127221.2(CACNA1A):c.5536C>T (p.Arg1846Trp)

SNV
Germline

Chr19:13228791

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA305511737

rs_561575026

2 SubmittersRCV002351858 RCV003108036

NM_000217.3(KCNA1):c.985C>A (p.Leu329Ile)

SNV
Germline

Chr12:4912363

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383455774

rs_2497353523

1 SubmittersRCV002472214

NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser)

SNV
Germline

Chr19:13334488

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA404346634

rs_2513049302

2 SubmittersRCV004070157 RCV003064563

NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)

SNV
Germline

Chr19:13299085

Conflicting classifications of pathogenicity

not specified
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA404343213

rs_1270399331

2 SubmittersRCV002510298 RCV003775560

NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)

SNV
Germline

Chr19:13371771

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA305562428

rs_866087553

3 SubmittersRCV002735741 RCV003322636 RCV004966071

NM_001127222.2(CACNA1A):c.2350C>T (p.Gln784Ter)

SNV
Germline

Chr19:13299283

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404343644

rs_2512910840

1 SubmittersRCV002760506

NM_001127222.2(CACNA1A):c.6721C>G (p.Arg2241Gly)

SNV
Germline

Chr19:13208815

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239283

rs_760428308

2 SubmittersRCV002800825 RCV005535425

NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)

SNV
Germline

Chr19:13506041

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404971025

rs_2513709042

1 SubmittersRCV002801531

NM_001127222.2(CACNA1A):c.3823-1G>C

SNV
Germline

Chr19:13277129

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404340513

rs_2512816590

1 SubmittersRCV002832888

NM_000217.3(KCNA1):c.985C>T (p.Leu329Phe)

SNV
Germline

Chr12:4912363

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383455776

rs_2497353523

1 SubmittersRCV002791441

NM_001127222.2(CACNA1A):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr19:13365419

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404348590

rs_2513175615

1 SubmittersRCV002856756

NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)

SNV
Germline

Chr19:13506041

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404971026

rs_2513709042

1 SubmittersRCV002853067

NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)

SNV
Germline

Chr19:13235649

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404336682

rs_121908243

1 SubmittersRCV002894624

NM_001127222.2(CACNA1A):c.631+2T>C

SNV
Germline

Chr19:13371686

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404350560

rs_2513200325

2 SubmittersRCV002904136 RCV004812460

NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)

SNV
Germline

Chr19:13506066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA505802687

rs_767892925

2 SubmittersRCV002962039 RCV003443098

NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val)

SNV
Germline

Chr19:13299190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240550

rs_779928926

2 SubmittersRCV002928911 RCV004774765

NM_001127222.2(CACNA1A):c.4089+1G>A

SNV
Germline

Chr19:13262733

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404339907

rs_2056766498

2 SubmittersRCV002995481 RCV004007746

NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys)

SNV
Germline

Chr19:13299148

Conflicting classifications of pathogenicity

Inborn genetic diseases
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA9240544

rs_199850826

2 SubmittersRCV003014990 RCV003045189

NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)

SNV
Germline

Chr19:13230202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404333800

rs_2512618280

3 SubmittersRCV003030221 RCV004763515 RCV003232769

NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)

SNV
Germline

Chr19:13214599

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404334670

rs_1390782540

2 SubmittersRCV003235757 RCV003036311

NM_001127222.2(CACNA1A):c.3530C>A (p.Pro1177His)

SNV
Germline

Chr19:13286526

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240298

rs_201789073

2 SubmittersRCV003056423 RCV005429403

NM_001127222.2(CACNA1A):c.1913+1G>A

SNV
Germline

Chr19:13308119

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404344709

rs_2512947666

1 SubmittersRCV003066191

NM_001127222.2(CACNA1A):c.4131C>T (p.Phe1377=)

SNV
Germline

Chr19:13261569

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA505660047

rs_1353506638

2 SubmittersRCV003143884 RCV005215983

NM_001127222.2(CACNA1A):c.3731A>G (p.Tyr1244Cys)

SNV
Germline

Chr19:13283358

Conflicting classifications of pathogenicity

Episodic ataxia type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA404340731

rs_1164174661

2 SubmittersRCV003148215 RCV003159248

NM_000217.3(KCNA1):c.1102G>C (p.Val368Leu)

SNV
Germline

Chr12:4912480

Pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383456047

rs_2497353747

1 SubmittersRCV003388187

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.185A>G (p.Tyr62Cys)

SNV
Germline

Chr19:13506040

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Focal epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA404971022

rs_2513709034

3 SubmittersRCV003233020 RCV003779849 RCV005623523

NM_001127222.2(CACNA1A):c.2098G>A (p.Gly700Arg)

SNV
Germline

Chr19:13303773

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404344270

rs_2512931242

1 SubmittersRCV003233022

NM_001040142.2(SCN2A):c.477-2A>G

SNV
Unknown

Chr2:165308664

Likely pathogenic

Episodic ataxia, type 9

Criteria Provided
Single Submitter

CA349015815

rs_1415376277

1 SubmittersRCV003314426

NM_000217.3(KCNA1):c.863T>A (p.Leu288Gln)

SNV
Germline

Chr12:4912241

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383455511

rs_2497353297

1 SubmittersRCV003322699

NM_000217.3(KCNA1):c.966T>A (p.Ser322Arg)

SNV
Unknown

Chr12:4912344

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383455733

rs_2497353491

1 SubmittersRCV003325267

NM_001127222.2(CACNA1A):c.203G>T (p.Arg68Leu)

SNV
Unknown

Chr19:13506022

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404970983

rs_576099495

1 SubmittersRCV003333361

NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile)

SNV
Germline

Chr19:13317181

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404345703

rs_2512982859

1 SubmittersRCV003335812

NM_001127222.2(CACNA1A):c.5216G>C (p.Arg1739Pro)

SNV
Germline

Chr19:13234954

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404335589

rs_770276164

1 SubmittersRCV003336686

NM_001127222.2(CACNA1A):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr19:13506134

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404971227

rs_2513709839

1 SubmittersRCV003336697

NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)

SNV
Germline

Chr19:13298793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240461

rs_756038056

4 SubmittersRCV003423366 RCV003778399 RCV003994552

NM_001127222.2(CACNA1A):c.3638G>A (p.Gly1213Asp)

SNV
Germline

Chr19:13285122

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240246

rs_540667475

2 SubmittersRCV003441339 RCV005216108

NM_000217.3(KCNA1):c.745T>C (p.Phe249Leu)

SNV
Germline

Chr12:4912123

Conflicting classifications of pathogenicity

Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA383455235

rs_104894356

2 SubmittersRCV003515368

NM_000217.3(KCNA1):c.974A>G (p.Glu325Gly)

SNV
Germline

Chr12:4912352

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383455756

rs_2497353507

1 SubmittersRCV003515231

NM_000217.3(KCNA1):c.1207C>T (p.Pro403Ser)

SNV
Germline

Chr12:4912585

Pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383456273

rs_1591627924

1 SubmittersRCV003627413

NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)

SNV
Germline

Chr19:13317169

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404345677

rs_2512982816

1 SubmittersRCV003785421

NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter)

SNV
Germline

Chr19:13359647

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404347012

rs_2513151820

1 SubmittersRCV003785554

NM_001127222.2(CACNA1A):c.5080G>T (p.Val1694Phe)

SNV
Germline

Chr19:13235262

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404335916

rs_121908224

1 SubmittersRCV003783732

NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)

SNV
Germline

Chr19:13303871

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404344492

rs_2512931633

1 SubmittersRCV003783734

NM_001127222.2(CACNA1A):c.1708A>G (p.Ile570Val)

SNV
Germline

Chr19:13308489

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240748

rs_776862279

2 SubmittersRCV003782294 RCV005254871

NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter)

SNV
Germline

Chr19:13317197

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404345736

rs_2512982918

1 SubmittersRCV003779401

NM_001127221.2(CACNA1A):c.5532-2A>G

SNV
Germline

Chr19:13228797

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404331981

rs_2512610959

1 SubmittersRCV003787414

NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)

SNV
Germline

Chr19:13262750

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404339942

rs_1202610727

1 SubmittersRCV003788343

NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)

SNV
Germline

Chr19:13230185

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404333750

rs_121908214

1 SubmittersRCV003807838

NM_001127222.2(CACNA1A):c.5962C>T (p.Gln1988Ter)

SNV
Germline

Chr19:13212719

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404333627

rs_2512537287

1 SubmittersRCV003799471

NM_001040142.2(SCN2A):c.4623C>G (p.Ile1541Met)

SNV
Germline

Chr2:165386817

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9

Criteria Provided
Conflicting Classifications

CA349036308

rs_2468149512

2 SubmittersRCV003803429 RCV003989864

NM_001127222.2(CACNA1A):c.5133+2T>A

SNV
Germline

Chr19:13235207

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404335791

rs_2512645497

1 SubmittersRCV003804222

NM_001127222.2(CACNA1A):c.3964G>A (p.Gly1322Arg)

SNV
Germline

Chr19:13275875

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404340181

rs_2512810715

1 SubmittersRCV003802935

NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)

SNV
Germline

Chr19:13359635

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404346980

rs_2513151774

1 SubmittersRCV003800368

NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)

SNV
Germline

Chr19:13303578

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404344168

rs_2512930046

1 SubmittersRCV003801965

NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)

SNV
Germline

Chr19:13452948

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404967568

rs_2513503710

1 SubmittersRCV003815743

NM_001127222.2(CACNA1A):c.4389-2A>C

SNV
Germline

Chr19:13257553

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404339187

rs_2512741435

1 SubmittersRCV003802561

NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)

SNV
Germline

Chr19:13505939

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404970791

rs_2513708527

1 SubmittersRCV003805033

NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)

SNV
Germline

Chr19:13261528

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

CA404339702

rs_2512759377

1 SubmittersRCV003805243

NM_001040142.2(SCN2A):c.4309-2A>G

SNV
Germline

Chr2:165380590

Likely pathogenic

Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3

Criteria Provided
Single Submitter

CA349033552

rs_2468126249

1 SubmittersRCV003883285

NM_001040142.2(SCN2A):c.4952T>G (p.Phe1651Cys)

SNV
Germline

Chr2:165388758

Likely pathogenic

Episodic ataxia, type 9

Criteria Provided
Single Submitter

CA349037856

rs_2468157758

1 SubmittersRCV003990490

NM_001040142.2(SCN2A):c.4481A>G (p.Gln1494Arg)

SNV
Germline

Chr2:165381127

Likely pathogenic

Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9
Seizures, benign familial infantile, 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1432208282

2 SubmittersRCV004566558 RCV005409973

NM_001040142.2(SCN2A):c.605+1G>C

SNV
Germline

Chr2:165308795

Pathogenic

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9

Criteria Provided
Single Submitter

1 SubmittersRCV004771589

NM_001040142.2(SCN2A):c.1267G>A (p.Val423Met)

SNV
Germline

Chr2:165313992

Pathogenic

Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3

Criteria Provided
Single Submitter

1 SubmittersRCV004776560

NM_000217.3(KCNA1):c.730C>T (p.Pro244Ser)

SNV
Unknown

Chr12:4912108

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004787559

NM_000217.3(KCNA1):c.1226C>A (p.Ser409Tyr)

SNV
Germline

Chr12:4912604

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004797403

NM_001040142.2(SCN2A):c.5616G>A (p.Met1872Ile)

SNV
Germline

Chr2:165389422

Likely pathogenic

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9

Criteria Provided
Single Submitter

1 SubmittersRCV004797412

NM_001127222.2(CACNA1A):c.2290C>T (p.Gln764Ter)

SNV
Germline

Chr19:13299343

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004813371

NM_001127222.2(CACNA1A):c.859T>C (p.Cys287Arg)

SNV
Germline

Chr19:13359725

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004819040

NM_001127222.2(CACNA1A):c.506G>A (p.Trp169Ter)

SNV
Germline

Chr19:13452909

Pathogenic

Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004972402 RCV005218384

NM_001127222.2(CACNA1A):c.5400+1G>T

SNV
Germline

Chr19:13231709

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005217741

NM_001127222.2(CACNA1A):c.4886G>A (p.Trp1629Ter)

SNV
Germline

Chr19:13245246

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005217983

NM_001127222.2(CACNA1A):c.4045G>T (p.Val1349Leu)

SNV
Germline

Chr19:13262778

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005221634

NM_001127222.2(CACNA1A):c.4310A>G (p.Lys1437Arg)

SNV
Germline

Chr19:13259642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005219191 RCV005416797

NM_001127222.2(CACNA1A):c.6371C>G (p.Ser2124Ter)

SNV
Germline

Chr19:13209467

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005221496

NM_001127222.2(CACNA1A):c.1841T>A (p.Ile614Asn)

SNV
Germline

Chr19:13308192

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005214720

NM_001127222.2(CACNA1A):c.185A>T (p.Tyr62Phe)

SNV
Germline

Chr19:13506040

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005214727

NM_001127222.2(CACNA1A):c.291G>A (p.Trp97Ter)

SNV
Germline

Chr19:13505934

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005214867

NM_001127222.2(CACNA1A):c.5731+1G>C

SNV
Germline

Chr19:13224666

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005220548

NM_001127222.2(CACNA1A):c.3660T>G (p.Tyr1220Ter)

SNV
Germline

Chr19:13285100

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005220623

NM_001127222.2(CACNA1A):c.3553+1G>A

SNV
Germline

Chr19:13286502

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005212837

NM_001127222.2(CACNA1A):c.5393C>G (p.Ser1798Trp)

SNV
Germline

Chr19:13231717

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005235856

NM_001127222.2(CACNA1A):c.5749C>T (p.Gln1917Ter)

SNV
Germline

Chr19:13214591

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

1 SubmittersRCV005244158

NM_000217.3(KCNA1):c.1241T>C (p.Phe414Ser)

SNV
Unknown

Chr12:4912619

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005257960

NM_001127222.2(CACNA1A):c.3990-1G>T

SNV
Germline

Chr19:13262834

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005415312

NM_000217.3(KCNA1):c.941T>A (p.Ile314Asn)

SNV
Germline

Chr12:4912319

Pathogenic

Episodic ataxia type 1

No Assertion Criteria Provided

1 SubmittersRCV005604864