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 Juvenile myoclonic epilepsy Condition: not provided Idiopathic generalized epilepsy CACNB4-related disorder	Criteria Provided Conflicting Classifications	CA118923	rs_1805031	10 SubmittersRCV000008046 RCV000008047 RCV000298698 RCV000487686 RCV001081010 RCV004532307
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)	SNV Germline	Chr19:13371744	Pathogenic	Migraine, familial hemiplegic, 1 Familial hemiplegic migraine Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254415	rs_121908211	5 SubmittersRCV000009008 RCV001533156 RCV002512926 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 Condition: not provided Familial hemiplegic migraine Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA119650	rs_121908212	18 SubmittersRCV000009009 RCV000009010 RCV000504541 RCV000802118 RCV000516650 RCV001533159 RCV002051776 RCV002415406 RCV003233067
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)	SNV Germline	Chr19:13230185	Pathogenic	Migraine, familial hemiplegic, 1 Familial hemiplegic migraine Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA254421	rs_121908214	4 SubmittersRCV000009012 RCV001533163 RCV001390440
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	3 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 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA254430	rs_121908216	14 SubmittersRCV000009017 RCV000517293 RCV001542800 RCV001381850
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)	SNV Germline	Chr19:13359707	Pathogenic	Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA254437	rs_121908215	3 SubmittersRCV000009018 RCV000009019 RCV001388786
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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Familial hemiplegic migraine Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254473	rs_121908225	9 SubmittersRCV000009027 RCV000502832 RCV001390632 RCV001533157 RCV003150928 RCV002272012
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 Familial hemiplegic migraine Developmental and epileptic encephalopathy, 52 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA119653	rs_121908217	13 SubmittersRCV000009028 RCV000009029 RCV000009030 RCV000517519 RCV001533158 RCV002227018 RCV001380080
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter)	SNV Germline	Chr19:13277122	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA254476	rs_121909323	3 SubmittersRCV000009031 RCV001851752
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	SNV Germline	Chr19:13255217	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA254479	rs_121909324	9 SubmittersRCV000009032 RCV000622947 RCV000763032 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	Criteria Provided Single Submitter	CA119656	rs_267606696	2 SubmittersRCV000009034 RCV001836705
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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA254489	rs_121909326	6 SubmittersRCV000009035 RCV000009036 RCV000157056 RCV001049766 RCV001804718 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_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 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	6 SubmittersRCV000013738 RCV000189121 RCV000527590 RCV003224096
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 Single Submitter	CA256876	rs_104894349	2 SubmittersRCV000014426 RCV001265691
NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile)	SNV Germline	Chr12:4912123	Pathogenic	Episodic ataxia type 1	No Assertion Criteria Provided	CA256877	rs_104894356	1 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	4 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	Criteria Provided Single Submitter	CA341288	rs_104894358	2 SubmittersRCV000014435
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	4 SubmittersRCV000014436 RCV001785451
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)	SNV Germline	Chr2:165297053	Pathogenic	Developmental and epileptic encephalopathy, 11 Condition: not provided Complex neurodevelopmental disorder Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA128706	rs_387906683	8 SubmittersRCV000022766 RCV000713071 RCV001265266 RCV003764629 RCV003987329
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SNV Germline	Chr2:165310413	Pathogenic	Episodic ataxia, type 9 Seizures, benign familial infantile, 3 Condition: not provided Epileptic encephalopathy Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Complex neurodevelopmental disorder SCN2A-related disorder Infantile spasms	Criteria Provided Multiple Submitters No Conflicts	CA128711	rs_387906686	18 SubmittersRCV000022769 RCV000118251 RCV000189193 RCV000416960 RCV001200935 RCV001035869 RCV001265272 RCV003985263 RCV003155911
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)	SNV Germline	Chr19:13317168	Pathogenic	Episodic ataxia type 2 Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Hereditary episodic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA266034	rs_121908240	5 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 Condition: not provided Enlarged cisterna magna Global developmental delay Ataxia _ Neurologic (child onset) Non-progressive congenital cerebellar ataxia Neurodevelopmental delay Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA185906	rs_121908247	16 SubmittersRCV000059302 RCV000157057 RCV000406556 RCV000415457 RCV000755049 RCV002273953 RCV002311540 RCV003152591 RCV000653331 RCV000679889
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)	SNV Germline	Chr19:13235649	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266056	rs_121908243	5 SubmittersRCV000059304 RCV001212963 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 Condition: not provided Cerebellar ataxia Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 not specified Tip-toe gait Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA266074	rs_121908235	13 SubmittersRCV000059310 RCV000710089 RCV000788079 RCV000653342 RCV001849176 RCV001174863 RCV003319317 RCV002362698
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	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_267605294	3 SubmittersRCV000692683 RCV001289290 RCV002345374
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)	SNV Germline	Chr19:13312714	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA221491	rs_375628894	7 SubmittersRCV000079476 RCV000723660 RCV001083894 RCV002313755 RCV003985267
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)	SNV Germline	Chr2:165313994	Conflicting classifications of pathogenicity	Condition: not provided not specified Seizures, benign familial infantile, 3 Inborn genetic diseases Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9 Seizures, benign familial infantile, 3	Criteria Provided Conflicting Classifications	CA289013	rs_139815570	7 SubmittersRCV000118245 RCV000212987 RCV000267564 RCV002312490 RCV001079874 RCV003224154
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)	SNV Germline	Chr19:13209344	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233565	rs_727503832	6 SubmittersRCV000723815 RCV000693394 RCV002362804
NM_001127222.2(CACNA1A):c.631+5G>A	SNV Germline	Chr19:13371683	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA274488	rs_786200963	6 SubmittersRCV000169641 RCV000996802 RCV001052102 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	not specified Juvenile myoclonic epilepsy Episodic ataxia type 5 Epilepsy, idiopathic generalized, susceptibility to, 9 Epilepsy, idiopathic generalized, susceptibility to, 9 Episodic ataxia type 5 Idiopathic generalized epilepsy Condition: not provided CACNB4-related disorder	Criteria Provided Conflicting Classifications	CA209568	rs_200092211	12 SubmittersRCV000195021 RCV000341315 RCV000286296 RCV000660363 RCV000515346 RCV001079683 RCV000724000 RCV004535183
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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA241914	rs_374749004	6 SubmittersRCV000176048 RCV000723917 RCV001080024 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	6 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 Inborn genetic diseases Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Migraine Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts	CA242642	rs_794727411	17 SubmittersRCV000176622 RCV000415108 RCV000623848 RCV000662178 RCV000662179 RCV000604986 RCV000662176 RCV002227083 RCV000662177 RCV001061471
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)	SNV Germline	Chr19:13235667	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	CA244130	rs_794727558	3 SubmittersRCV000177634 RCV002298504 RCV001852195
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	Criteria Provided Conflicting Classifications	CA245719	rs_779044548	3 SubmittersRCV000178567 RCV000816451
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 Episodic ataxia type 5 Epilepsy, idiopathic generalized, susceptibility to, 9 Idiopathic generalized epilepsy Condition: not provided CACNB4-related disorder	Criteria Provided Conflicting Classifications	CA313404	rs_200662010	10 SubmittersRCV000186843 RCV000271279 RCV000384411 RCV000515246 RCV000471900 RCV002054189 RCV004537572
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)	SNV Germline	Chr2:152099004	Conflicting classifications of pathogenicity	Condition: not provided Juvenile myoclonic epilepsy Episodic ataxia type 5 Idiopathic generalized epilepsy not specified	Criteria Provided Conflicting Classifications	CA313402	rs_542973906	5 SubmittersRCV000186842 RCV000321619 RCV000376086 RCV000526121 RCV004020261
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)	SNV Germline	Chr2:165344688	Conflicting classifications of pathogenicity	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	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 Hereditary episodic ataxia Vertigo Seizure Developmental and epileptic encephalopathy, 11 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA209995	rs_796053124	4 SubmittersRCV000189127 RCV000417104 RCV000195526 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 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Childhood epilepsy with centrotemporal spikes Condition: not provided Developmental and epileptic encephalopathy, 11 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 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 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9	Criteria Provided Conflicting Classifications	CA317930	rs_201124054	3 SubmittersRCV000189137 RCV000795173 RCV002288794
NM_001040142.2(SCN2A):c.4901G>A (p.Gly1634Asp)	SNV Germline	Chr2:165388707	Pathogenic	Episodic ataxia, type 9	No Assertion Criteria Provided		rs_1553463427	1 SubmittersRCV001200928
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)	SNV Germline	Chr2:165389450	Pathogenic	Condition: not provided Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Seizures, benign familial infantile, 3 Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA318045	rs_796053166	8 SubmittersRCV000189180 RCV001200926 RCV001281369 RCV001387542 RCV001374453 RCV002319457
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)	SNV Germline	Chr19:13371726	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA207980	rs_797045424	4 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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278969	rs_863224852	5 SubmittersRCV000197857 RCV001248022 RCV001281644
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	7 SubmittersRCV000234998 RCV000500491 RCV000727383
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	SNV Germline	Chr19:13303584	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Familial hemiplegic migraine Developmental and epileptic encephalopathy, 52 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Abnormality of the nervous system	Criteria Provided Multiple Submitters No Conflicts	CA10586394		13 SubmittersRCV000240888 RCV000255263 RCV000623106 RCV000763034 RCV001380078 RCV002274954 RCV002227102 RCV001814128
NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His)	SNV Germline	Chr19:13209365	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240354	rs_199745070	5 SubmittersRCV001088856 RCV000726478 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	Criteria Provided Conflicting Classifications	CA10603434	rs_886041654	2 SubmittersRCV000404656 RCV003765579
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 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3	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	Criteria Provided Conflicting Classifications	CA9239420	rs_765051582	3 SubmittersRCV000344424 RCV001040372
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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240294	rs_184723350	5 SubmittersRCV000374998 RCV000725282 RCV001083052 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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9240256	rs_201236364	10 SubmittersRCV000351406 RCV000415907 RCV001087304 RCV002450820 RCV003985316
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)	SNV Germline	Chr19:13212507	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239268	rs_755099305	4 SubmittersRCV000260147 RCV001044457 RCV003235180 RCV004021263
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239357	rs_572722130	7 SubmittersRCV000345600 RCV000726322 RCV000556625 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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA10606760	rs_886044439	3 SubmittersRCV000320967 RCV001458213 RCV003985320
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	Episodic ataxia type 5 Juvenile myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA10612547	rs_567549082	1 SubmittersRCV000300093 RCV000354973
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 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3	Criteria Provided Conflicting Classifications	CA1940250	rs_138241682	3 SubmittersRCV003224263 RCV000374111 RCV002057578
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	2 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	Criteria Provided Conflicting Classifications	CA6399516	rs_147828649	3 SubmittersRCV000320846 RCV000531086 RCV004549669
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	Hereditary episodic ataxia Episodic ataxia type 1	Criteria Provided Conflicting Classifications	CA10641592	rs_547570693	1 SubmittersRCV000345331 RCV000390883
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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	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 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239519	rs_745775887	5 SubmittersRCV000413632 RCV000727526 RCV000791501 RCV002275037 RCV002524653
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)	SNV Germline	Chr19:13235015	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	CA9239810	rs_368257155	4 SubmittersRCV000413582 RCV000996784 RCV001216305 RCV002318368
NM_001127222.2(CACNA1A):c.1198+1G>A	SNV Germline	Chr19:13334377	Pathogenic/Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	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 Spastic paraparesis Mild global developmental delay Intention tremor Dysarthria Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA16043551	rs_1057518779	3 SubmittersRCV000415249 RCV000803741 RCV001753849
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 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Single Submitter	CA16044236	rs_1057519429	3 SubmittersRCV000416438 RCV000556499 RCV002227158
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 Early infantile epileptic encephalopathy with suppression bursts Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA16603920	rs_121917753	6 SubmittersRCV000444205 RCV001252614 RCV001265495 RCV001848749 RCV003989530
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	SNV Germline	Chr2:165310406	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Episodic ataxia, type 9 Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder Benign Neonatal Epilepsy Seizures, benign familial infantile, 3 unclassified developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 11	Criteria Provided Multiple Submitters No Conflicts	CA16604008	rs_1057520413	11 SubmittersRCV000436956 RCV001042388 RCV002281573 RCV001848747 RCV002319492 RCV001848748 RCV002267611 RCV003155938 RCV003441147
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)	SNV Germline	Chr19:13212666	Conflicting classifications of pathogenicity	not specified Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239503	rs_369675855	3 SubmittersRCV000424948 RCV000996779 RCV001458103
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	SNV Germline	Chr19:13262780	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Multiple Submitters No Conflicts	CA16607714	rs_1057520918	19 SubmittersRCV000435974 RCV000624902 RCV000787277 RCV000763033 RCV001078138 RCV001251039 RCV003223404 RCV003333066 RCV002227161
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)	SNV Germline	Chr19:13286525	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240295	rs_184723350	6 SubmittersRCV000727896 RCV001089018 RCV003985345 RCV002451016
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)	SNV Germline	Chr19:13286791	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 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 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 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	Criteria Provided Conflicting Classifications	CA9239512	rs_778274864	4 SubmittersRCV000440064 RCV000791047 RCV001068298
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 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239626	rs_201836062	7 SubmittersRCV000726584 RCV001088540 RCV001706630 RCV003224276 RCV003985336 RCV002318439
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	Criteria Provided Conflicting Classifications	CA9240192	rs_201230929	3 SubmittersRCV000697189 RCV000710954
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=)	SNV Germline	Chr19:13298879	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 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 12 conditions Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 CACNA1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239469	rs_563345694	8 SubmittersRCV000541910 RCV000710970 RCV000735340 RCV000764178 RCV003985342 RCV002356583
NM_001127222.2(CACNA1A):c.5940+18C>G	SNV Germline	Chr19:13214215	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA16608118	rs_1057522421	3 SubmittersRCV000428422 RCV001336212 RCV002059624
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys)	SNV Germline	Chr19:13286890	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240398	rs_187393245	3 SubmittersRCV000440421 RCV000553097 RCV002318456
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu)	SNV Germline	Chr19:13286937	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240407	rs_776628272	2 SubmittersRCV000434119 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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases Tip-toe gait	Criteria Provided Conflicting Classifications	CA9240830	rs_561858384	9 SubmittersRCV000420690 RCV000658823 RCV000795075 RCV002311506 RCV003319199
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)	SNV Germline	Chr19:13208767	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA16608876	rs_1057523197	3 SubmittersRCV000427955 RCV002522456 RCV003144262
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	Criteria Provided Conflicting Classifications	CA16608878	rs_1006425986	2 SubmittersRCV000424906 RCV001861596
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	Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	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	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9239269	rs_779063280	4 SubmittersRCV000484344 RCV001049031 RCV002525881 RCV003985360
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	Criteria Provided Conflicting Classifications	CA9239290	rs_751926317	4 SubmittersRCV000727072 RCV001364178
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)	SNV Germline	Chr19:13209333	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9239341	rs_375354077	7 SubmittersRCV000764175 RCV000732133 RCV001087818 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 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications	CA9239356	rs_554393704	6 SubmittersRCV000482338 RCV000764176 RCV001487619 RCV002367642 RCV003985361
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)	SNV Germline	Chr19:13209374	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA16620771	rs_572722130	5 SubmittersRCV000761991 RCV002318579 RCV002525898
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)	SNV Germline	Chr19:13212171	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239421	rs_752513542	3 SubmittersRCV000762254 RCV001865468
NM_001127222.2(CACNA1A):c.6190-2A>C	SNV Germline	Chr19:13212218	Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA16620773	rs_1064796709	2 SubmittersRCV000483754 RCV001379725
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)	SNV Germline	Chr19:13214572	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239590	rs_771636070	2 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 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 52	Criteria Provided Multiple Submitters No Conflicts	CA16620778	rs_1064794261	6 SubmittersRCV000485872 RCV000853325 RCV001851179 RCV002227166
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)	SNV Germline	Chr19:13245205	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 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 Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications	CA16620781	rs_1064795531	9 SubmittersRCV000480159 RCV001264726 RCV001643203 RCV001856860 RCV002227168 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 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 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	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240245	rs_372017604	3 SubmittersRCV000483313 RCV001070658
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	3 SubmittersRCV000479702 RCV001205704 RCV002341143
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)	SNV Germline	Chr19:13298766	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240457	rs_551380805	4 SubmittersRCV000710087 RCV001431438
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)	SNV Germline	Chr19:13298821	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240470	rs_771423362	3 SubmittersRCV000710942 RCV001337615
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu)	SNV Germline	Chr19:13298868	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 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	Criteria Provided Conflicting Classifications	CA9240557	rs_760816963	6 SubmittersRCV000481834 RCV000703860 RCV001253380 RCV002489171 RCV002318582
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	5 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	Criteria Provided Conflicting Classifications	CA9240876	rs_187259531	4 SubmittersRCV000479522 RCV000687506 RCV004023139
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)	SNV Germline	Chr19:13286509	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240285	rs_373224251	5 SubmittersRCV000488137 RCV000818299 RCV001262317 RCV002525994
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	3 SubmittersRCV000489690 RCV001782976
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)	SNV Germline	Chr19:13212203	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9239431	rs_769040794	5 SubmittersRCV000488982 RCV000624453 RCV001364368
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)	SNV Germline	Chr19:13298754	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	CA9240455	rs_762396014	3 SubmittersRCV000489666 RCV001823144 RCV001237622
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	Criteria Provided Conflicting Classifications	CA9239355	rs_755749925	4 SubmittersRCV000493640 RCV000692582 RCV002318598
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)	SNV Germline	Chr19:13286646	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240329	rs_200333359	7 SubmittersRCV000494232 RCV000764180 RCV001212290 RCV004023314
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)	SNV Germline	Chr19:13286830	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240385	rs_554091859	5 SubmittersRCV000494033 RCV000707375 RCV002323856
NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser)	SNV Unknown	Chr12:4912561	Likely pathogenic	Episodic ataxia type 1	Criteria Provided Single Submitter	CA383456228	rs_1135401950	1 SubmittersRCV000496443
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)	SNV Germline	Chr19:13208877	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA305547478	rs_16052	3 SubmittersRCV000653344 RCV001707709 RCV002367677
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)	SNV Germline	Chr19:13285126	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 6 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA305506421	rs_953766694	3 SubmittersRCV000497473 RCV001046824
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)	SNV Germline	Chr19:13334435	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9240910	rs_773593740	4 SubmittersRCV000504059 RCV001301380 RCV002524161 RCV003456403
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_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	not specified Spinocerebellar ataxia type 6 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9239365	rs_750077868	4 SubmittersRCV000517121 RCV000764177 RCV001302457 RCV002316467
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)	SNV Germline	Chr19:13212668	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9239505	rs_374063403	4 SubmittersRCV000518729 RCV000807225 RCV001528226
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)	SNV Germline	Chr19:13235013	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	CA9239809	rs_758409135	5 SubmittersRCV000517347 RCV000951188 RCV001078798 RCV002341204
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)	SNV Germline	Chr19:13253050	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA404338184	rs_943715197	2 SubmittersRCV000516355 RCV002527458
NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro)	SNV Germline	Chr19:13275928	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240146	rs_755279579	2 SubmittersRCV000518770 RCV001059864
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu)	SNV Germline	Chr19:13286673	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	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 Inborn genetic diseases Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240397	rs_200850308	4 SubmittersRCV000518167 RCV002323878 RCV000810178
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)	SNV Germline	Chr19:13299242	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA9240559	rs_370746809	2 SubmittersRCV000517699 RCV003766909
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=)	SNV Germline	Chr19:13300564	Conflicting classifications of pathogenicity	not specified Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA9240881	rs_529977616	3 SubmittersRCV000517959 RCV000904927 RCV001576544
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.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	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications	CA9239507	rs_751947412	6 SubmittersRCV000658820 RCV001069420 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 Developmental and epileptic encephalopathy, 52 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404337971	rs_1555740805	5 SubmittersRCV000518921 RCV000624265 RCV001644622 RCV002227176 RCV003985374
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=)	SNV Germline	Chr19:13262776	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA305506396	rs_368081042	2 SubmittersRCV000522662 RCV000653339
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)	SNV Germline	Chr19:13303585	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications	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 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	CA9240625	rs_190471428	3 SubmittersRCV000520969 RCV000764183 RCV002060279
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp)	SNV Germline	Chr2:165367225	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1940130	rs_115231482	4 SubmittersRCV000551875 RCV001556515 RCV002265794 RCV002456120
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	Criteria Provided Single Submitter	CA404346656	rs_1272886269	1 SubmittersRCV000544536
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9240286	rs_369742607	5 SubmittersRCV000525516 RCV000710950 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	Criteria Provided Conflicting Classifications	CA305506122	rs_1038705410	2 SubmittersRCV000529094 RCV003327421
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_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 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications	CA305564510	rs_976595665	3 SubmittersRCV000593263 RCV001462762 RCV002265814
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	Criteria Provided Conflicting Classifications	CA9240973	rs_749587119	3 SubmittersRCV000710977 RCV001439451
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)	SNV Germline	Chr19:13230191	Pathogenic/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	CA404333762	rs_1555736565	7 SubmittersRCV000593477 RCV000818527 RCV002272299
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)	SNV Germline	Chr19:13365468	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	CA9240981	rs_202216404	5 SubmittersRCV000727523 RCV001082686 RCV002311954 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.2619C>T (p.Gly873=)	SNV Germline	Chr19:13299014	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240518	rs_761874927	2 SubmittersRCV000609280 RCV001344520
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.4987C>T (p.Arg1663Ter)	SNV Germline	Chr19:13235694	Pathogenic	Condition: not provided Spinocerebellar ataxia type 6 Episodic ataxia type 2 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts	CA404336960	rs_1555738369	5 SubmittersRCV000627239 RCV001542799 RCV002468594 RCV002529808
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter)	SNV Germline	Chr19:13300638	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404344014	rs_1555756737	1 SubmittersRCV000653332
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter)	SNV Germline	Chr19:13298878	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	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	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9239362	rs_751044309	3 SubmittersRCV000653326 RCV002532006 RCV003411551
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys)	SNV Germline	Chr19:13283302	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter	CA404340598	rs_1555751762	1 SubmittersRCV000653321
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	2 SubmittersRCV000653335 RCV001288482
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	SNV Germline	Chr19:13359749	Pathogenic/Likely pathogenic	Epileptic encephalopathy Episodic ataxia type 2 Gait ataxia Condition: not provided 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, 52 Spinocerebellar ataxia type 6 Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts		rs_1555773764	10 SubmittersRCV000656726 RCV000991686 RCV001035721 RCV002227194 RCV001849186 RCV004025995 RCV003230272 RCV003233795
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp)	SNV Germline	Chr19:13298845	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_367882437	4 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		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		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	Criteria Provided Conflicting Classifications		rs_751754026	2 SubmittersRCV000687371 RCV001136144
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)	SNV Germline	Chr19:13208821	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_759576380	4 SubmittersRCV000687354 RCV000996772 RCV002360723
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)	SNV Germline	Chr19:13209390	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided CACNA1A-related disorder	Criteria Provided Conflicting Classifications		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		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		rs_1013100046	4 SubmittersRCV000691097 RCV001174531 RCV001731893
NM_001127222.2(CACNA1A):c.4950+1G>T	SNV Germline	Chr19:13245181	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		rs_1568457080	1 SubmittersRCV000687889
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)	SNV Germline	Chr19:13208785	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		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		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		rs_1568447557	1 SubmittersRCV000706124
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter)	SNV Germline	Chr19:13259661	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts		rs_1568470104	2 SubmittersRCV000685695 RCV002274087
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn)	SNV Germline	Chr19:13285138	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		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		rs_762288499	3 SubmittersRCV000702556 RCV004026599 RCV003480790
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro)	SNV Germline	Chr19:13298616	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1268938831	2 SubmittersRCV000688501 RCV001592872
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)	SNV Germline	Chr19:13298617	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_757026025	4 SubmittersRCV000696771 RCV000732666 RCV002533462
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)	SNV Germline	Chr19:13298695	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_778978325	2 SubmittersRCV000689874 RCV003238802
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)	SNV Germline	Chr19:13298941	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases Migraine, familial hemiplegic, 1 CACNA1A-related disorder	Criteria Provided Conflicting Classifications		rs_751726770	5 SubmittersRCV000694253 RCV000841214 RCV002424647 RCV002267622 RCV003985411
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)	SNV Germline	Chr19:13299132	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications		rs_201666606	6 SubmittersRCV000707156 RCV000710938 RCV002317926 RCV003987676
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter)	SNV Germline	Chr19:13317198	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		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 Condition: not provided Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		rs_1568473171	7 SubmittersRCV000709715 RCV002325439 RCV001784349 RCV003492153
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		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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications		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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_772988279	3 SubmittersRCV000710967 RCV001868324 RCV002352230
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)	SNV Germline	Chr19:13214600	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_371957992	2 SubmittersRCV000710966 RCV000821878
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		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		rs_1568485068	4 SubmittersRCV000710957 RCV001861955 RCV003985414
NM_001127222.2(CACNA1A):c.3692+1G>A	SNV Germline	Chr19:13285067	Pathogenic/Likely pathogenic	Condition: not provided Migraine, familial hemiplegic, 1 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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts		rs_1315533129	10 SubmittersRCV000710953 RCV001197888 RCV001264752 RCV001328546 RCV003458325 RCV003768098
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)	SNV Germline	Chr19:13286524	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_556266465	3 SubmittersRCV000710949 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		rs_775079932	5 SubmittersRCV000710947 RCV000796725 RCV002325440
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys)	SNV Germline	Chr19:13452976	Pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		rs_1568659847	2 SubmittersRCV000710961 RCV001390633
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)	SNV Germline	Chr2:165389559	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Condition: not provided 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		rs_201718767	7 SubmittersRCV000822218 RCV000997270 RCV001329202 RCV002318864 RCV003224383
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser)	SNV Germline	Chr19:13286809	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_753077104	2 SubmittersRCV001862067 RCV002316705
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser)	SNV Germline	Chr19:13214545	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1205866071	2 SubmittersRCV001314944 RCV002318698
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln)	SNV Germline	Chr19:13259660	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369440853	3 SubmittersRCV001868348 RCV001574395 RCV002313517
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)	SNV Germline	Chr19:13317121	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_185034915	3 SubmittersRCV001248296 RCV002315423 RCV003482301
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)	SNV Germline	Chr19:13208820	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_753798870	3 SubmittersRCV001868349 RCV002313558 RCV004569408
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=)	SNV Germline	Chr19:13208867	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications		rs_2304094	2 SubmittersRCV002312479 RCV002532995
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)	SNV Germline	Chr19:13286635	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_780535727	3 SubmittersRCV000791955 RCV000991671 RCV002318274
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)	SNV Germline	Chr19:13286791	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201311000	4 SubmittersRCV001053950 RCV001577172 RCV002318203
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)	SNV Germline	Chr19:13208871	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		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		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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications		rs_760682283	2 SubmittersRCV000733903 RCV001087917
NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter)	SNV Germline	Chr19:13277108	Pathogenic	Episodic ataxia type 2	No Assertion Criteria Provided		rs_774224202	1 SubmittersRCV000754874
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)	SNV Germline	Chr19:13212175	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 See cases Tip-toe gait	Criteria Provided Conflicting Classifications		rs_751515136	5 SubmittersRCV000762255 RCV000822815 RCV002252233 RCV003320369
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 Seizures, benign familial infantile, 3 Episodic ataxia, type 9	Criteria Provided Conflicting Classifications		rs_746904068	2 SubmittersRCV000768307 RCV001797139 RCV003224451
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)	SNV Germline	Chr19:13259581	Conflicting classifications of pathogenicity	Seizure Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_368100270	3 SubmittersRCV000781966 RCV001214082 RCV001759476
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	SNV Germline	Chr19:13235684	Pathogenic/Likely pathogenic	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 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1568447650	4 SubmittersRCV001869248 RCV002227217 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 Episodic ataxia, type 9 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Developmental and epileptic encephalopathy, 11	Criteria Provided Conflicting Classifications		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 KCNA1-related disorder	Criteria Provided Conflicting Classifications		rs_149959487	5 SubmittersRCV000792773 RCV001289073 RCV003362939 RCV004549866
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)	SNV Germline	Chr19:13208856	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1064793075	4 SubmittersRCV000796030 RCV001578054 RCV002537017
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)	SNV Germline	Chr19:13209354	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_17846928	5 SubmittersRCV000796072 RCV001531292 RCV002534592 RCV003768490
NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys)	SNV Germline	Chr19:13209366	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Conflicting Classifications		rs_774289573	2 SubmittersRCV000823294 RCV003985431
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)	SNV Germline	Chr19:13210640	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_771030765	3 SubmittersRCV000797445 RCV001507934
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter)	SNV Germline	Chr19:13235227	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		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		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		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		rs_992828062	2 SubmittersRCV000823191 RCV003232129
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)	SNV Germline	Chr19:13286688	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_769497214	2 SubmittersRCV000800578 RCV003332257
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)	SNV Germline	Chr19:13286823	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_748935741	3 SubmittersRCV000807271 RCV001507936
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu)	SNV Germline	Chr19:13298850	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_754998423	3 SubmittersRCV000797425 RCV002508258 RCV002537045
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		rs_1600274038	1 SubmittersRCV000806243
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter)	SNV Germline	Chr19:13303849	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter		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	Criteria Provided Conflicting Classifications		rs_1600292507	2 SubmittersRCV000793441 RCV001031011
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		rs_767432719	1 SubmittersRCV000814263
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)	SNV Germline	Chr19:13371727	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		rs_886042230	3 SubmittersRCV000805379 RCV000991679 RCV001727802
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)	SNV Germline	Chr19:13455184	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 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	Criteria Provided Multiple Submitters No Conflicts		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		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		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		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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts		rs_374686479	2 SubmittersRCV000853265 RCV003224808
NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln)	SNV Germline	Chr19:13330327	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_752902118	2 SubmittersRCV000908328 RCV003145234
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)	SNV Germline	Chr19:13208052	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Conflicting Classifications		rs_751364653	3 SubmittersRCV000923208 RCV001485194 RCV003985459
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)	SNV Germline	Chr19:13208867	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications		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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1599276914	2 SubmittersRCV000939153 RCV003151824
NM_001127222.2(CACNA1A):c.2172+8C>T	SNV Germline	Chr19:13303538	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		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		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		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		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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		rs_1568514116	3 SubmittersRCV000990168 RCV001267553 RCV001368840
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys)	SNV Unknown	Chr19:13335829	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter		rs_1568546593	1 SubmittersRCV000990170
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)	SNV Unknown	Chr19:13365448	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter		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		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		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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Episodic ataxia type 2	Criteria Provided Conflicting Classifications		rs_768567834	3 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		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		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		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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 EEG with focal epileptiform discharges	Criteria Provided Conflicting Classifications		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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_771104002	5 SubmittersRCV000996781 RCV001038105 RCV001823176 RCV002354907
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)	SNV Germline	Chr19:13298653	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1600271575	5 SubmittersRCV001029965 RCV000996790 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		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		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 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_1599292506	3 SubmittersRCV000996800 RCV001706714 RCV003769357
NM_001127222.2(CACNA1A):c.4591-2A>G	SNV Germline	Chr19:13255261	Likely pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter		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		rs_573977862	2 SubmittersRCV001044614 RCV001131841
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp)	SNV Germline	Chr19:13210625	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1162464868	2 SubmittersRCV001072009 RCV001819797
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser)	SNV Germline	Chr19:13212195	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_370514102	2 SubmittersRCV001041193 RCV003886470
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)	SNV Germline	Chr19:13212411	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_539347883	3 SubmittersRCV001066054 RCV002554480 RCV003222214
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		rs_369555957	2 SubmittersRCV001062812 RCV001552668
NM_001127222.2(CACNA1A):c.5529-1231C>T	SNV Germline	Chr19:13228758	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1296262946	3 SubmittersRCV001664653 RCV001063625 RCV003985479
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)	SNV Germline	Chr19:13235648	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Intellectual disability	Criteria Provided Single Submitter		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		rs_2056733130	2 SubmittersRCV001069607 RCV001664659
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu)	SNV Germline	Chr19:13286646	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		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		rs_775079497	2 SubmittersRCV001044974 RCV002286803
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys)	SNV Germline	Chr19:13298598	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_573941336	2 SubmittersRCV001049225 RCV002436596
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)	SNV Germline	Chr19:13298616	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		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		rs_2057953268	2 SubmittersRCV001052581 RCV001567380
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)	SNV Germline	Chr19:13312702	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1	Criteria Provided Multiple Submitters No Conflicts		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		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		rs_576141199	2 SubmittersRCV001042668 RCV001538109
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)	SNV Germline	Chr2:165388755	Pathogenic	Condition: not provided Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11 Complex neurodevelopmental disorder	Criteria Provided Single Submitter		rs_1702008435	3 SubmittersRCV001090355 RCV001200929 RCV001260973 RCV001265319
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)	SNV Germline	Chr19:13210639	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications		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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications		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 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_774203605	3 SubmittersRCV001092224 RCV001862706 RCV003283970
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		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		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		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 Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_768048563	3 SubmittersRCV001198374 RCV001751363 RCV001859203
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)	SNV Germline	Chr2:165310468	Pathogenic	Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV001217698 RCV001270381 RCV003238322
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)	SNV Germline	Chr19:13208786	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_375958273	2 SubmittersRCV001218404 RCV001586061
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		rs_2054721635	3 SubmittersRCV001216762 RCV002274151 RCV003414012
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)	SNV Germline	Chr19:13255136	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Episodic ataxia type 2	Criteria Provided Conflicting Classifications		rs_2056510928	4 SubmittersRCV001216392 RCV001586058 RCV002249808
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met)	SNV Germline	Chr19:13259589	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		rs_121908237	1 SubmittersRCV001217912
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp)	SNV Germline	Chr19:13298956	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1262547488	2 SubmittersRCV001220274 RCV002436848
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		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		rs_769503871	2 SubmittersRCV001207392 RCV003985485
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)	SNV Germline	Chr19:13234922	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications		rs_1568446845	5 SubmittersRCV001204177 RCV001289289 RCV002463365
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)	SNV Germline	Chr19:13286950	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_762343454	2 SubmittersRCV001210979 RCV001760183
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro)	SNV Germline	Chr19:13299033	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_754326939	2 SubmittersRCV001206934 RCV002436797
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)	SNV Germline	Chr19:13317133	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications		rs_375210532	4 SubmittersRCV001202706 RCV001664748 RCV002484087
NM_001127222.2(CACNA1A):c.5529-1268C>A	SNV Germline	Chr19:13228795	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_765557914	2 SubmittersRCV001226545 RCV001819923
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	SNV Germline	Chr19:13262771	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Condition: not provided Developmental and epileptic encephalopathy, 42 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1555745467	6 SubmittersRCV001247687 RCV001542498 RCV002227258 RCV003322872 RCV002272428 RCV003246815
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	Criteria Provided Conflicting Classifications		rs_370396470	2 SubmittersRCV001247951 RCV002322162
NM_001127222.2(CACNA1A):c.4389-1G>C	SNV Germline	Chr19:13257552	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter		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		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		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 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 52	Criteria Provided Conflicting Classifications		rs_2056767982	2 SubmittersRCV001253443 RCV002227259
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 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts		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		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		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 Developmental and epileptic encephalopathy, 11 Complex neurodevelopmental disorder Episodic ataxia, type 9	No Assertion Criteria Provided		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 Episodic ataxia, type 9 Developmental and epileptic encephalopathy, 11	Criteria Provided Multiple Submitters No Conflicts		rs_746060762	5 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		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		rs_767534576	2 SubmittersRCV001266453 RCV001880119
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys)	SNV Germline	Chr19:13303872	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2057842904	3 SubmittersRCV001380079 RCV001268015
NM_001040142.2(SCN2A):c.4822+1G>A	SNV Germline	Chr2:165387017	Likely pathogenic	Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Episodic ataxia, type 9	No Assertion Criteria Provided			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		rs_2056768058	2 SubmittersRCV001281101 RCV001368887
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)	SNV Germline	Chr19:13308248	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Episodic ataxia type 2	Criteria Provided Multiple Submitters No Conflicts		rs_2057948502	3 SubmittersRCV001288484 RCV001871718 RCV003294188
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	SNV Germline	Chr19:13308190	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications		rs_2057947681	3 SubmittersRCV001290255 RCV001863157 RCV002227266
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		rs_2056674737	1 SubmittersRCV001308810
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)	SNV Germline	Chr19:13262759	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 52 Migraine, familial hemiplegic, 1 Condition: not provided Spinocerebellar ataxia type 6 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications		rs_2056767062	4 SubmittersRCV001296448 RCV002227269 RCV003145516 RCV003883173
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		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		rs_763944721	2 SubmittersRCV001299627 RCV002393709
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg)	SNV Germline	Chr19:13365413	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter		rs_1555774859	1 SubmittersRCV001301264
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln)	SNV Germline	Chr19:13208814	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_773057074	2 SubmittersRCV001316387 RCV002276688
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)	SNV Germline	Chr19:13230184	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter		rs_2055612479	1 SubmittersRCV001319286
NM_001127222.2(CACNA1A):c.5401-3C>T	SNV Germline	Chr19:13230212	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_375947967	2 SubmittersRCV001314022 RCV001540441
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)	SNV Germline	Chr19:13286653	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications		rs_762006290	2 SubmittersRCV001315986 RCV002476470
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly)	SNV Germline	Chr19:13359679	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2059067761	2 SubmittersRCV001318930 RCV003318680
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)	SNV Germline	Chr19:13506022	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		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		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		rs_1568507151	1 SubmittersRCV001328544
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)	SNV Germline	Chr19:13208765	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_753884600	2 SubmittersRCV001333787 RCV002546650
NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter)	SNV Germline	Chr19:13299151	Pathogenic	Episodic ataxia type 2	Criteria Provided Single Submitter		rs_2057736834	1 SubmittersRCV001336208
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	Criteria Provided Conflicting Classifications		rs_781738239	2 SubmittersRCV001342238 RCV002546954
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His)	SNV Germline	Chr19:13285134	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_374286965	2 SubmittersRCV001347887 RCV002456508
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)	SNV Germline	Chr19:13209470	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications		rs_1220294928	3 SubmittersRCV001371088 RCV003322889 RCV003444848 RCV004546643
NM_001127222.2(CACNA1A):c.5529-1245T>C	SNV Germline	Chr19:13228772	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_368791169	2 SubmittersRCV001369302 RCV002285480
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		rs_577006493	1 SubmittersRCV001359986
NM_001127222.2(CACNA1A):c.5840-2A>T	SNV Germline	Chr19:13214335	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		rs_2144536202	1 SubmittersRCV001378180
NM_001127222.2(CACNA1A):c.4866+1G>T	SNV Germline	Chr19:13252990	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		rs_2144725957	2 SubmittersRCV001377850 RCV003322621
NM_001127222.2(CACNA1A):c.540-1G>C	SNV Germline	Chr19:13371780	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter		rs_2144559526	1 SubmittersRCV001379527
NM_001127222.2(CACNA1A):c.399+1G>A	SNV Germline	Chr19:13455106	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		rs_2060983144	1 SubmittersRCV001377033
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		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		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		rs_1231997862	1 SubmittersRCV001388196
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		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		rs_2137673958	2 SubmittersRCV001449664 RCV001859333
NM_001127222.2(CACNA1A):c.5839+10G>A	SNV Germline	Chr19:13214491	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided CACNA1A-related disorder	Criteria Provided Conflicting Classifications		rs_371733571	3 SubmittersRCV001440062 RCV001664880 RCV003985497
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=)	SNV Germline	Chr19:13506063	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_762262807	2 SubmittersRCV001786485 RCV001443407
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)	SNV Germline	Chr19:13300631	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1335209785	4 SubmittersRCV001468691 RCV001762691
NM_001127222.2(CACNA1A):c.979-7C>T	SNV Germline	Chr19:13335916	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 not specified	Criteria Provided Conflicting Classifications		rs_1375150525	2 SubmittersRCV001476551 RCV003323888
NM_001127222.2(CACNA1A):c.632-8C>G	SNV Germline	Chr19:13365477	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 not specified	Criteria Provided Conflicting Classifications		rs_762951690	2 SubmittersRCV001495053 RCV003155412
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)	SNV Germline	Chr19:13455205	Likely pathogenic	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		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		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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		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		rs_2144559262	2 SubmittersRCV001575419 RCV002246439
NM_001127222.2(CACNA1A):c.6340-7C>A	SNV Germline	Chr19:13209505	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		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		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 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		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		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		rs_779576853	3 SubmittersRCV001763278 RCV002034491 RCV004584441
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		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		rs_746428515	2 SubmittersRCV001756812 RCV001882896
NM_001127222.2(CACNA1A):c.5529-1222T>C	SNV Germline	Chr19:13228749	Conflicting classifications of pathogenicity	Condition: not provided Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		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		rs_535900273	3 SubmittersRCV001815092 RCV002542463 RCV003146244
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	SNV Germline	Chr19:13231775	Pathogenic	Condition: not provided Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Developmental and epileptic encephalopathy, 52	Criteria Provided Multiple Submitters No Conflicts		rs_2144629622	2 SubmittersRCV001823375 RCV002227282
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		rs_1042634748	3 SubmittersRCV001965187 RCV002285518
NM_001127222.2(CACNA1A):c.5839+1G>C	SNV Germline	Chr19:13214500	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter		rs_951196653	1 SubmittersRCV001991990
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)	SNV Germline	Chr19:13299322	Pathogenic	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, 52	Criteria Provided Multiple Submitters No Conflicts		rs_2144958410	2 SubmittersRCV001979015 RCV002227289
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)	SNV Germline	Chr19:13261525	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		rs_2144767386	2 SubmittersRCV002034426 RCV002466277
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)	SNV Germline	Chr19:13235220	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		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		rs_749526415	2 SubmittersRCV001901839 RCV002422915
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)	SNV Germline	Chr19:13298752	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_1406066197	2 SubmittersRCV001911086 RCV002266051
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		rs_371116746	2 SubmittersRCV001977562 RCV002361329
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg)	SNV Germline	Chr19:13312722	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2145030587	2 SubmittersRCV002008523 RCV003313258
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)	SNV Germline	Chr19:13224762	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1010331313	2 SubmittersRCV001964303 RCV003229078
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)	SNV Germline	Chr19:13230188	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1	Criteria Provided Multiple Submitters No Conflicts		rs_1296629000	2 SubmittersRCV001916764 RCV002227288
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)	SNV Germline	Chr19:13359736	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Inborn genetic diseases Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1212952550	4 SubmittersRCV002484767 RCV002407156 RCV001996862 RCV002563499
NM_001127222.2(CACNA1A):c.6526+6C>T	SNV Germline	Chr19:13209306	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Inborn genetic diseases CACNA1A-related disorder	Criteria Provided Conflicting Classifications		rs_1366998583	3 SubmittersRCV001924443 RCV002560491 RCV003985531
NM_000217.3(KCNA1):c.850C>T (p.Gln284Ter)	SNV Germline	Chr12:4912228	Pathogenic	Episodic ataxia type 1	Criteria Provided Single Submitter		rs_2137673640	1 SubmittersRCV001994622
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr)	SNV Germline	Chr19:13359769	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 CACNA1A-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_771682941	2 SubmittersRCV001942154 RCV002291304
NM_001127222.2(CACNA1A):c.5529-1215C>T	SNV Germline	Chr19:13228742	Likely pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		rs_2144616690	1 SubmittersRCV002037295
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)	SNV Germline	Chr19:13506095	Conflicting classifications of pathogenicity	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42 Migraine, familial hemiplegic, 1	Criteria Provided Conflicting Classifications		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		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		rs_2144646626	2 SubmittersRCV001993488 RCV003314713
NM_001127222.2(CACNA1A):c.3989+1G>T	SNV Germline	Chr19:13275849	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		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		rs_2144535495	1 SubmittersRCV002000901
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln)	SNV Germline	Chr19:13298555	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Condition: not provided	Criteria Provided Conflicting Classifications		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		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	Criteria Provided Conflicting Classifications		rs_1198604369	2 SubmittersRCV002361210 RCV001935221
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		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		rs_369084322	2 SubmittersRCV001899161 RCV003238877
NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter)	SNV Germline	Chr19:13255251	Pathogenic	Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Single Submitter		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	Criteria Provided Conflicting Classifications		rs_753467037	2 SubmittersRCV001889698 RCV003985529
NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter)	SNV Germline	Chr19:13312760	Pathogenic	Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter		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 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		rs_781006387	2 SubmittersRCV001951627 RCV002479592
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		rs_2144648058	1 SubmittersRCV002038382
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	SNV Germline	Chr19:13257421	Pathogenic	Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		rs_886037946	2 SubmittersRCV002227402 RCV003774680
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)	SNV Germline	Chr19:13262792	Pathogenic/Likely pathogenic	Spinocerebellar ataxia type 6 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 CACNA1A-associated disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2144773045	3 SubmittersRCV002227403 RCV003234171 RCV003314034
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		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		rs_2144833336	1 SubmittersRCV002227405
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)	SNV Germline	Chr19:13303581	Pathogenic/Likely pathogenic	Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Developmental and epileptic encephalopathy, 52 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Multiple Submitters No Conflicts		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		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		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		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		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		rs_2144524396	2 SubmittersRCV002244485 RCV003774696
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		rs_1025376971	2 SubmittersRCV002252518 RCV003094149
NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys)	SNV Germline	Chr12:4912225	Pathogenic/Likely pathogenic	Episodic ataxia type 1	Criteria Provided Multiple Submitters No Conflicts		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		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			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			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			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			2 SubmittersRCV002322693 RCV003099264
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)	SNV Germline	Chr19:13212141	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications			3 SubmittersRCV002368640 RCV003408248 RCV003098184

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
Juvenile myoclonic epilepsy
Condition: not provided
Idiopathic generalized epilepsy
CACNB4-related disorder

Criteria Provided
Conflicting Classifications

CA118923

rs_1805031

10 SubmittersRCV000008046 RCV000008047 RCV000298698 RCV000487686 RCV001081010 RCV004532307

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

SNV
Germline

Chr19:13371744

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254415

rs_121908211

5 SubmittersRCV000009008 RCV001533156 RCV002512926 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
Condition: not provided
Familial hemiplegic migraine
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA119650

rs_121908212

18 SubmittersRCV000009009 RCV000009010 RCV000504541 RCV000802118 RCV000516650 RCV001533159 RCV002051776 RCV002415406 RCV003233067

NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)

SNV
Germline

Chr19:13230185

Pathogenic

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

Criteria Provided
Single Submitter

CA254421

rs_121908214

4 SubmittersRCV000009012 RCV001533163 RCV001390440

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

3 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
Spinocerebellar ataxia type 6
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA254430

rs_121908216

14 SubmittersRCV000009017 RCV000517293 RCV001542800 RCV001381850

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

SNV
Germline

Chr19:13359707

Pathogenic

Spinocerebellar ataxia type 6
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA254437

rs_121908215

3 SubmittersRCV000009018 RCV000009019 RCV001388786

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254473

rs_121908225

9 SubmittersRCV000009027 RCV000502832 RCV001390632 RCV001533157 RCV003150928 RCV002272012

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119653

rs_121908217

13 SubmittersRCV000009028 RCV000009029 RCV000009030 RCV000517519 RCV001533158 RCV002227018 RCV001380080

NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter)

SNV
Germline

Chr19:13277122

Pathogenic

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

Criteria Provided
Single Submitter

CA254476

rs_121909323

3 SubmittersRCV000009031 RCV001851752

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

SNV
Germline

Chr19:13255217

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254479

rs_121909324

9 SubmittersRCV000009032 RCV000622947 RCV000763032 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

Criteria Provided
Single Submitter

CA119656

rs_267606696

2 SubmittersRCV000009034 RCV001836705

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254489

rs_121909326

6 SubmittersRCV000009035 RCV000009036 RCV000157056 RCV001049766 RCV001804718 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_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
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

6 SubmittersRCV000013738 RCV000189121 RCV000527590 RCV003224096

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
Single Submitter

CA256876

rs_104894349

2 SubmittersRCV000014426 RCV001265691

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

SNV
Germline

Chr12:4912123

Pathogenic

Episodic ataxia type 1

No Assertion Criteria Provided

CA256877

rs_104894356

1 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

4 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

Criteria Provided
Single Submitter

CA341288

rs_104894358

2 SubmittersRCV000014435

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

4 SubmittersRCV000014436 RCV001785451

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

SNV
Germline

Chr2:165297053

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA128706

rs_387906683

8 SubmittersRCV000022766 RCV000713071 RCV001265266 RCV003764629 RCV003987329

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

SNV
Germline

Chr2:165310413

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA128711

rs_387906686

18 SubmittersRCV000022769 RCV000118251 RCV000189193 RCV000416960 RCV001200935 RCV001035869 RCV001265272 RCV003985263 RCV003155911

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

SNV
Germline

Chr19:13317168

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA266034

rs_121908240

5 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
Condition: not provided
Enlarged cisterna magna
Global developmental delay
Ataxia _ Neurologic (child onset)
Non-progressive congenital cerebellar ataxia
Neurodevelopmental delay
Inborn genetic diseases
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA185906

rs_121908247

16 SubmittersRCV000059302 RCV000157057 RCV000406556 RCV000415457 RCV000755049 RCV002273953 RCV002311540 RCV003152591 RCV000653331 RCV000679889

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

SNV
Germline

Chr19:13235649

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA266056

rs_121908243

5 SubmittersRCV000059304 RCV001212963 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
Condition: not provided
Cerebellar ataxia
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6
not specified
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266074

rs_121908235

13 SubmittersRCV000059310 RCV000710089 RCV000788079 RCV000653342 RCV001849176 RCV001174863 RCV003319317 RCV002362698

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

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

Criteria Provided
Conflicting Classifications

rs_267605294

3 SubmittersRCV000692683 RCV001289290 RCV002345374

NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)

SNV
Germline

Chr19:13312714

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221491

rs_375628894

7 SubmittersRCV000079476 RCV000723660 RCV001083894 RCV002313755 RCV003985267

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

SNV
Germline

Chr2:165313994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289013

rs_139815570

7 SubmittersRCV000118245 RCV000212987 RCV000267564 RCV002312490 RCV001079874 RCV003224154

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

SNV
Germline

Chr19:13209344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233565

rs_727503832

6 SubmittersRCV000723815 RCV000693394 RCV002362804

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

SNV
Germline

Chr19:13371683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA274488

rs_786200963

6 SubmittersRCV000169641 RCV000996802 RCV001052102 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

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

Criteria Provided
Conflicting Classifications

CA209568

rs_200092211

12 SubmittersRCV000195021 RCV000341315 RCV000286296 RCV000660363 RCV000515346 RCV001079683 RCV000724000 RCV004535183

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

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

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

Criteria Provided
Conflicting Classifications

CA241914

rs_374749004

6 SubmittersRCV000176048 RCV000723917 RCV001080024 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA242642

rs_794727411

17 SubmittersRCV000176622 RCV000415108 RCV000623848 RCV000662178 RCV000662179 RCV000604986 RCV000662176 RCV002227083 RCV000662177 RCV001061471

NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)

SNV
Germline

Chr19:13235667

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

CA244130

rs_794727558

3 SubmittersRCV000177634 RCV002298504 RCV001852195

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

Criteria Provided
Conflicting Classifications

CA245719

rs_779044548

3 SubmittersRCV000178567 RCV000816451

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

Criteria Provided
Conflicting Classifications

CA313404

rs_200662010

10 SubmittersRCV000186843 RCV000271279 RCV000384411 RCV000515246 RCV000471900 RCV002054189 RCV004537572

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

SNV
Germline

Chr2:152099004

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA313402

rs_542973906

5 SubmittersRCV000186842 RCV000321619 RCV000376086 RCV000526121 RCV004020261

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

SNV
Germline

Chr2:165344688

Conflicting classifications of pathogenicity

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

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
Hereditary episodic ataxia
Vertigo
Seizure
Developmental and epileptic encephalopathy, 11
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA209995

rs_796053124

4 SubmittersRCV000189127 RCV000417104 RCV000195526 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
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Childhood epilepsy with centrotemporal spikes
Condition: not provided
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
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
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9

Criteria Provided
Conflicting Classifications

CA317930

rs_201124054

3 SubmittersRCV000189137 RCV000795173 RCV002288794

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

SNV
Germline

Chr2:165388707

Pathogenic

Episodic ataxia, type 9

No Assertion Criteria Provided

rs_1553463427

1 SubmittersRCV001200928

NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)

SNV
Germline

Chr2:165389450

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA318045

rs_796053166

8 SubmittersRCV000189180 RCV001200926 RCV001281369 RCV001387542 RCV001374453 RCV002319457

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

SNV
Germline

Chr19:13371726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207980

rs_797045424

4 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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278969

rs_863224852

5 SubmittersRCV000197857 RCV001248022 RCV001281644

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

7 SubmittersRCV000234998 RCV000500491 RCV000727383

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

SNV
Germline

Chr19:13303584

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10586394

13 SubmittersRCV000240888 RCV000255263 RCV000623106 RCV000763034 RCV001380078 RCV002274954 RCV002227102 RCV001814128

NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His)

SNV
Germline

Chr19:13209365

Conflicting classifications of pathogenicity

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

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

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

Criteria Provided
Conflicting Classifications

CA9240354

rs_199745070

5 SubmittersRCV001088856 RCV000726478 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

Criteria Provided
Conflicting Classifications

CA10603434

rs_886041654

2 SubmittersRCV000404656 RCV003765579

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

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

Criteria Provided
Conflicting Classifications

CA9239420

rs_765051582

3 SubmittersRCV000344424 RCV001040372

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

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

Criteria Provided
Conflicting Classifications

CA9240294

rs_184723350

5 SubmittersRCV000374998 RCV000725282 RCV001083052 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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

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

Criteria Provided
Conflicting Classifications

CA9240256

rs_201236364

10 SubmittersRCV000351406 RCV000415907 RCV001087304 RCV002450820 RCV003985316

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

SNV
Germline

Chr19:13212507

Conflicting classifications of pathogenicity

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

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

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
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239268

rs_755099305

4 SubmittersRCV000260147 RCV001044457 RCV003235180 RCV004021263

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239357

rs_572722130

7 SubmittersRCV000345600 RCV000726322 RCV000556625 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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA10606760

rs_886044439

3 SubmittersRCV000320967 RCV001458213 RCV003985320

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

Episodic ataxia type 5
Juvenile myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA10612547

rs_567549082

1 SubmittersRCV000300093 RCV000354973

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
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3

Criteria Provided
Conflicting Classifications

CA1940250

rs_138241682

3 SubmittersRCV003224263 RCV000374111 RCV002057578

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

2 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

Criteria Provided
Conflicting Classifications

CA6399516

rs_147828649

3 SubmittersRCV000320846 RCV000531086 RCV004549669

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

Hereditary episodic ataxia
Episodic ataxia type 1

Criteria Provided
Conflicting Classifications

CA10641592

rs_547570693

1 SubmittersRCV000345331 RCV000390883

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

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
Developmental and epileptic encephalopathy, 42
Migraine, familial hemiplegic, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9239519

rs_745775887

5 SubmittersRCV000413632 RCV000727526 RCV000791501 RCV002275037 RCV002524653

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

SNV
Germline

Chr19:13235015

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

CA9239810

rs_368257155

4 SubmittersRCV000413582 RCV000996784 RCV001216305 RCV002318368

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

SNV
Germline

Chr19:13334377

Pathogenic/Likely pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA16043551

rs_1057518779

3 SubmittersRCV000415249 RCV000803741 RCV001753849

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
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1

Criteria Provided
Single Submitter

CA16044236

rs_1057519429

3 SubmittersRCV000416438 RCV000556499 RCV002227158

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
Early infantile epileptic encephalopathy with suppression bursts
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA16603920

rs_121917753

6 SubmittersRCV000444205 RCV001252614 RCV001265495 RCV001848749 RCV003989530

NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)

SNV
Germline

Chr2:165310406

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Episodic ataxia, type 9
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder
Benign Neonatal Epilepsy
Seizures, benign familial infantile, 3
unclassified developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 11

Criteria Provided
Multiple Submitters
No Conflicts

CA16604008

rs_1057520413

11 SubmittersRCV000436956 RCV001042388 RCV002281573 RCV001848747 RCV002319492 RCV001848748 RCV002267611 RCV003155938 RCV003441147

NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)

SNV
Germline

Chr19:13212666

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239503

rs_369675855

3 SubmittersRCV000424948 RCV000996779 RCV001458103

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

SNV
Germline

Chr19:13262780

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607714

rs_1057520918

19 SubmittersRCV000435974 RCV000624902 RCV000787277 RCV000763033 RCV001078138 RCV001251039 RCV003223404 RCV003333066 RCV002227161

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

SNV
Germline

Chr19:13286525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240295

rs_184723350

6 SubmittersRCV000727896 RCV001089018 RCV003985345 RCV002451016

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

SNV
Germline

Chr19:13286791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239512

rs_778274864

4 SubmittersRCV000440064 RCV000791047 RCV001068298

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

Criteria Provided
Conflicting Classifications

CA9239626

rs_201836062

7 SubmittersRCV000726584 RCV001088540 RCV001706630 RCV003224276 RCV003985336 RCV002318439

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

Criteria Provided
Conflicting Classifications

CA9240192

rs_201230929

3 SubmittersRCV000697189 RCV000710954

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

SNV
Germline

Chr19:13298879

Conflicting classifications of pathogenicity

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

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

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

Criteria Provided
Conflicting Classifications

CA9239469

rs_563345694

8 SubmittersRCV000541910 RCV000710970 RCV000735340 RCV000764178 RCV003985342 RCV002356583

NM_001127222.2(CACNA1A):c.5940+18C>G

SNV
Germline

Chr19:13214215

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608118

rs_1057522421

3 SubmittersRCV000428422 RCV001336212 RCV002059624

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

SNV
Germline

Chr19:13286890

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240398

rs_187393245

3 SubmittersRCV000440421 RCV000553097 RCV002318456

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

SNV
Germline

Chr19:13286937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240407

rs_776628272

2 SubmittersRCV000434119 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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Inborn genetic diseases
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA9240830

rs_561858384

9 SubmittersRCV000420690 RCV000658823 RCV000795075 RCV002311506 RCV003319199

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

SNV
Germline

Chr19:13208767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608876

rs_1057523197

3 SubmittersRCV000427955 RCV002522456 RCV003144262

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

Criteria Provided
Conflicting Classifications

CA16608878

rs_1006425986

2 SubmittersRCV000424906 RCV001861596

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

Likely pathogenic

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

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

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

Criteria Provided
Conflicting Classifications

CA9239269

rs_779063280

4 SubmittersRCV000484344 RCV001049031 RCV002525881 RCV003985360

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

Criteria Provided
Conflicting Classifications

CA9239290

rs_751926317

4 SubmittersRCV000727072 RCV001364178

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

SNV
Germline

Chr19:13209333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239341

rs_375354077

7 SubmittersRCV000764175 RCV000732133 RCV001087818 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
Spinocerebellar ataxia type 6
Migraine, familial hemiplegic, 1
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Conflicting Classifications

CA9239356

rs_554393704

6 SubmittersRCV000482338 RCV000764176 RCV001487619 RCV002367642 RCV003985361

NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)

SNV
Germline

Chr19:13209374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620771

rs_572722130

5 SubmittersRCV000761991 RCV002318579 RCV002525898

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

SNV
Germline

Chr19:13212171

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239421

rs_752513542

3 SubmittersRCV000762254 RCV001865468

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

SNV
Germline

Chr19:13212218

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620773

rs_1064796709

2 SubmittersRCV000483754 RCV001379725

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

SNV
Germline

Chr19:13214572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239590

rs_771636070

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620778

rs_1064794261

6 SubmittersRCV000485872 RCV000853325 RCV001851179 RCV002227166

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

SNV
Germline

Chr19:13245205

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620781

rs_1064795531

9 SubmittersRCV000480159 RCV001264726 RCV001643203 RCV001856860 RCV002227168 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
Migraine, familial hemiplegic, 1
Episodic ataxia type 2
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

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

Criteria Provided
Conflicting Classifications

CA9240245

rs_372017604

3 SubmittersRCV000483313 RCV001070658

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

3 SubmittersRCV000479702 RCV001205704 RCV002341143

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

SNV
Germline

Chr19:13298766

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240457

rs_551380805

4 SubmittersRCV000710087 RCV001431438

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

SNV
Germline

Chr19:13298821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240470

rs_771423362

3 SubmittersRCV000710942 RCV001337615

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

SNV
Germline

Chr19:13298868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240557

rs_760816963

6 SubmittersRCV000481834 RCV000703860 RCV001253380 RCV002489171 RCV002318582

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

5 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

Criteria Provided
Conflicting Classifications

CA9240876

rs_187259531

4 SubmittersRCV000479522 RCV000687506 RCV004023139

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

SNV
Germline

Chr19:13286509

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240285

rs_373224251

5 SubmittersRCV000488137 RCV000818299 RCV001262317 RCV002525994

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

3 SubmittersRCV000489690 RCV001782976

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

SNV
Germline

Chr19:13212203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239431

rs_769040794

5 SubmittersRCV000488982 RCV000624453 RCV001364368

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

SNV
Germline

Chr19:13298754

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

CA9240455

rs_762396014

3 SubmittersRCV000489666 RCV001823144 RCV001237622

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

Criteria Provided
Conflicting Classifications

CA9239355

rs_755749925

4 SubmittersRCV000493640 RCV000692582 RCV002318598

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

SNV
Germline

Chr19:13286646

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240329

rs_200333359

7 SubmittersRCV000494232 RCV000764180 RCV001212290 RCV004023314

NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)

SNV
Germline

Chr19:13286830

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240385

rs_554091859

5 SubmittersRCV000494033 RCV000707375 RCV002323856

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

SNV
Unknown

Chr12:4912561

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

CA383456228

rs_1135401950

1 SubmittersRCV000496443

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

SNV
Germline

Chr19:13208877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305547478

rs_16052

3 SubmittersRCV000653344 RCV001707709 RCV002367677

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

SNV
Germline

Chr19:13285126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA305506421

rs_953766694

3 SubmittersRCV000497473 RCV001046824

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

SNV
Germline

Chr19:13334435

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240910

rs_773593740

4 SubmittersRCV000504059 RCV001301380 RCV002524161 RCV003456403

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_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

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

Criteria Provided
Conflicting Classifications

CA9239365

rs_750077868

4 SubmittersRCV000517121 RCV000764177 RCV001302457 RCV002316467

NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)

SNV
Germline

Chr19:13212668

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9239505

rs_374063403

4 SubmittersRCV000518729 RCV000807225 RCV001528226

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

SNV
Germline

Chr19:13235013

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

CA9239809

rs_758409135

5 SubmittersRCV000517347 RCV000951188 RCV001078798 RCV002341204

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

SNV
Germline

Chr19:13253050

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA404338184

rs_943715197

2 SubmittersRCV000516355 RCV002527458

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

SNV
Germline

Chr19:13275928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240146

rs_755279579

2 SubmittersRCV000518770 RCV001059864

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

SNV
Germline

Chr19:13286673

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA9240397

rs_200850308

4 SubmittersRCV000518167 RCV002323878 RCV000810178

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

SNV
Germline

Chr19:13299242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240559

rs_370746809

2 SubmittersRCV000517699 RCV003766909

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

SNV
Germline

Chr19:13300564

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA9240881

rs_529977616

3 SubmittersRCV000517959 RCV000904927 RCV001576544

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.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

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

Criteria Provided
Conflicting Classifications

CA9239507

rs_751947412

6 SubmittersRCV000658820 RCV001069420 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
Developmental and epileptic encephalopathy, 52
Spinocerebellar ataxia type 6
Episodic ataxia type 2
Migraine, familial hemiplegic, 1
CACNA1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404337971

rs_1555740805

5 SubmittersRCV000518921 RCV000624265 RCV001644622 RCV002227176 RCV003985374

NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=)

SNV
Germline

Chr19:13262776

Conflicting classifications of pathogenicity

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

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

CA305506396

rs_368081042

2 SubmittersRCV000522662 RCV000653339

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

SNV
Germline

Chr19:13303585

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
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

CA9240625

rs_190471428

3 SubmittersRCV000520969 RCV000764183 RCV002060279

NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp)

SNV
Germline

Chr2:165367225

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1940130

rs_115231482

4 SubmittersRCV000551875 RCV001556515 RCV002265794 RCV002456120

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

Criteria Provided
Single Submitter

CA404346656

rs_1272886269

1 SubmittersRCV000544536

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9240286

rs_369742607

5 SubmittersRCV000525516 RCV000710950 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

Criteria Provided
Conflicting Classifications

CA305506122

rs_1038705410

2 SubmittersRCV000529094 RCV003327421

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

Criteria Provided
Conflicting Classifications

CA305564510

rs_976595665

3 SubmittersRCV000593263 RCV001462762 RCV002265814

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

Criteria Provided
Conflicting Classifications

CA9240973

rs_749587119

3 SubmittersRCV000710977 RCV001439451

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

SNV
Germline

Chr19:13230191

Pathogenic/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

CA404333762

rs_1555736565

7 SubmittersRCV000593477 RCV000818527 RCV002272299

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

SNV
Germline

Chr19:13365468

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

CA9240981

rs_202216404

5 SubmittersRCV000727523 RCV001082686 RCV002311954 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.2619C>T (p.Gly873=)

SNV
Germline

Chr19:13299014

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9240518

rs_761874927

2 SubmittersRCV000609280 RCV001344520

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.4987C>T (p.Arg1663Ter)

SNV
Germline

Chr19:13235694

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA404336960

rs_1555738369

5 SubmittersRCV000627239 RCV001542799 RCV002468594 RCV002529808

NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter)

SNV
Germline

Chr19:13300638

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404344014

rs_1555756737

1 SubmittersRCV000653332

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

SNV
Germline

Chr19:13298878

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

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

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

Criteria Provided
Conflicting Classifications

CA9239362

rs_751044309

3 SubmittersRCV000653326 RCV002532006 RCV003411551

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

SNV
Germline

Chr19:13283302

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

CA404340598

rs_1555751762

1 SubmittersRCV000653321

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

2 SubmittersRCV000653335 RCV001288482

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

SNV
Germline

Chr19:13359749

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555773764

10 SubmittersRCV000656726 RCV000991686 RCV001035721 RCV002227194 RCV001849186 RCV004025995 RCV003230272 RCV003233795

NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp)

SNV
Germline

Chr19:13298845

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_367882437

4 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

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

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

Criteria Provided
Conflicting Classifications

rs_751754026

2 SubmittersRCV000687371 RCV001136144

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

SNV
Germline

Chr19:13208821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_759576380

4 SubmittersRCV000687354 RCV000996772 RCV002360723

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

SNV
Germline

Chr19:13209390

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

rs_1013100046

4 SubmittersRCV000691097 RCV001174531 RCV001731893

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

SNV
Germline

Chr19:13245181

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

rs_1568457080

1 SubmittersRCV000687889

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

SNV
Germline

Chr19:13208785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

rs_1568447557

1 SubmittersRCV000706124

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

SNV
Germline

Chr19:13259661

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568470104

2 SubmittersRCV000685695 RCV002274087

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

SNV
Germline

Chr19:13285138

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

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

rs_762288499

3 SubmittersRCV000702556 RCV004026599 RCV003480790

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

SNV
Germline

Chr19:13298616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1268938831

2 SubmittersRCV000688501 RCV001592872

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

SNV
Germline

Chr19:13298617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_757026025

4 SubmittersRCV000696771 RCV000732666 RCV002533462

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

SNV
Germline

Chr19:13298695

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_778978325

2 SubmittersRCV000689874 RCV003238802

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

SNV
Germline

Chr19:13298941

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_751726770

5 SubmittersRCV000694253 RCV000841214 RCV002424647 RCV002267622 RCV003985411

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

SNV
Germline

Chr19:13299132

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201666606

6 SubmittersRCV000707156 RCV000710938 RCV002317926 RCV003987676

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

SNV
Germline

Chr19:13317198

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

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
Condition: not provided
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568473171

7 SubmittersRCV000709715 RCV002325439 RCV001784349 RCV003492153

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

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

Criteria Provided
Conflicting Classifications

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_772988279

3 SubmittersRCV000710967 RCV001868324 RCV002352230

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

SNV
Germline

Chr19:13214600

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_371957992

2 SubmittersRCV000710966 RCV000821878

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

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

rs_1568485068

4 SubmittersRCV000710957 RCV001861955 RCV003985414

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

SNV
Germline

Chr19:13285067

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1315533129

10 SubmittersRCV000710953 RCV001197888 RCV001264752 RCV001328546 RCV003458325 RCV003768098

NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)

SNV
Germline

Chr19:13286524

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_556266465

3 SubmittersRCV000710949 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

rs_775079932

5 SubmittersRCV000710947 RCV000796725 RCV002325440

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

SNV
Germline

Chr19:13452976

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568659847

2 SubmittersRCV000710961 RCV001390633

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

SNV
Germline

Chr2:165389559

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Condition: not provided
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

rs_201718767

7 SubmittersRCV000822218 RCV000997270 RCV001329202 RCV002318864 RCV003224383

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

SNV
Germline

Chr19:13286809

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_753077104

2 SubmittersRCV001862067 RCV002316705

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

SNV
Germline

Chr19:13214545

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1205866071

2 SubmittersRCV001314944 RCV002318698

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

SNV
Germline

Chr19:13259660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_369440853

3 SubmittersRCV001868348 RCV001574395 RCV002313517

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

SNV
Germline

Chr19:13317121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_185034915

3 SubmittersRCV001248296 RCV002315423 RCV003482301

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

SNV
Germline

Chr19:13208820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_753798870

3 SubmittersRCV001868349 RCV002313558 RCV004569408

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

SNV
Germline

Chr19:13208867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2304094

2 SubmittersRCV002312479 RCV002532995

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

SNV
Germline

Chr19:13286635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_780535727

3 SubmittersRCV000791955 RCV000991671 RCV002318274

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

SNV
Germline

Chr19:13286791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201311000

4 SubmittersRCV001053950 RCV001577172 RCV002318203

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

SNV
Germline

Chr19:13208871

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

rs_760682283

2 SubmittersRCV000733903 RCV001087917

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

SNV
Germline

Chr19:13277108

Pathogenic

Episodic ataxia type 2

No Assertion Criteria Provided

rs_774224202

1 SubmittersRCV000754874

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

SNV
Germline

Chr19:13212175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_751515136

5 SubmittersRCV000762255 RCV000822815 RCV002252233 RCV003320369

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

Criteria Provided
Conflicting Classifications

rs_746904068

2 SubmittersRCV000768307 RCV001797139 RCV003224451

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

SNV
Germline

Chr19:13259581

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_368100270

3 SubmittersRCV000781966 RCV001214082 RCV001759476

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

SNV
Germline

Chr19:13235684

Pathogenic/Likely pathogenic

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
Inborn genetic diseases
CACNA1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568447650

4 SubmittersRCV001869248 RCV002227217 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
Episodic ataxia, type 9
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 11

Criteria Provided
Conflicting Classifications

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
KCNA1-related disorder

Criteria Provided
Conflicting Classifications

rs_149959487

5 SubmittersRCV000792773 RCV001289073 RCV003362939 RCV004549866

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

SNV
Germline

Chr19:13208856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1064793075

4 SubmittersRCV000796030 RCV001578054 RCV002537017

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

SNV
Germline

Chr19:13209354

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_17846928

5 SubmittersRCV000796072 RCV001531292 RCV002534592 RCV003768490

NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys)

SNV
Germline

Chr19:13209366

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774289573

2 SubmittersRCV000823294 RCV003985431

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

SNV
Germline

Chr19:13210640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_771030765

3 SubmittersRCV000797445 RCV001507934

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

SNV
Germline

Chr19:13235227

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

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

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

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

rs_992828062

2 SubmittersRCV000823191 RCV003232129

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

SNV
Germline

Chr19:13286688

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_769497214

2 SubmittersRCV000800578 RCV003332257

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

SNV
Germline

Chr19:13286823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_748935741

3 SubmittersRCV000807271 RCV001507936

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

SNV
Germline

Chr19:13298850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_754998423

3 SubmittersRCV000797425 RCV002508258 RCV002537045

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

rs_1600274038

1 SubmittersRCV000806243

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

SNV
Germline

Chr19:13303849

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_1600292507

2 SubmittersRCV000793441 RCV001031011

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

rs_767432719

1 SubmittersRCV000814263

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

SNV
Germline

Chr19:13371727

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_886042230

3 SubmittersRCV000805379 RCV000991679 RCV001727802

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

SNV
Germline

Chr19:13455184

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_374686479

2 SubmittersRCV000853265 RCV003224808

NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln)

SNV
Germline

Chr19:13330327

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752902118

2 SubmittersRCV000908328 RCV003145234

NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)

SNV
Germline

Chr19:13208052

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_751364653

3 SubmittersRCV000923208 RCV001485194 RCV003985459

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

SNV
Germline

Chr19:13208867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1599276914

2 SubmittersRCV000939153 RCV003151824

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

SNV
Germline

Chr19:13303538

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

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

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568514116

3 SubmittersRCV000990168 RCV001267553 RCV001368840

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

SNV
Unknown

Chr19:13335829

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

rs_1568546593

1 SubmittersRCV000990170

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

SNV
Unknown

Chr19:13365448

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

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

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

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

Criteria Provided
Conflicting Classifications

rs_768567834

3 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

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

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

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
EEG with focal epileptiform discharges

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_771104002

5 SubmittersRCV000996781 RCV001038105 RCV001823176 RCV002354907

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

SNV
Germline

Chr19:13298653

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1600271575

5 SubmittersRCV001029965 RCV000996790 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

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

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

Criteria Provided
Conflicting Classifications

rs_1599292506

3 SubmittersRCV000996800 RCV001706714 RCV003769357

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

SNV
Germline

Chr19:13255261

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

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

rs_573977862

2 SubmittersRCV001044614 RCV001131841

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

SNV
Germline

Chr19:13210625

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1162464868

2 SubmittersRCV001072009 RCV001819797

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

SNV
Germline

Chr19:13212195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370514102

2 SubmittersRCV001041193 RCV003886470

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

SNV
Germline

Chr19:13212411

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_539347883

3 SubmittersRCV001066054 RCV002554480 RCV003222214

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

rs_369555957

2 SubmittersRCV001062812 RCV001552668

NM_001127222.2(CACNA1A):c.5529-1231C>T

SNV
Germline

Chr19:13228758

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1296262946

3 SubmittersRCV001664653 RCV001063625 RCV003985479

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

SNV
Germline

Chr19:13235648

Likely pathogenic

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

Criteria Provided
Single Submitter

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

rs_2056733130

2 SubmittersRCV001069607 RCV001664659

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

SNV
Germline

Chr19:13286646

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_775079497

2 SubmittersRCV001044974 RCV002286803

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

SNV
Germline

Chr19:13298598

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_573941336

2 SubmittersRCV001049225 RCV002436596

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

SNV
Germline

Chr19:13298616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_2057953268

2 SubmittersRCV001052581 RCV001567380

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

SNV
Germline

Chr19:13312702

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_576141199

2 SubmittersRCV001042668 RCV001538109

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

SNV
Germline

Chr2:165388755

Pathogenic

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

Criteria Provided
Single Submitter

rs_1702008435

3 SubmittersRCV001090355 RCV001200929 RCV001260973 RCV001265319

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

SNV
Germline

Chr19:13210639

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_774203605

3 SubmittersRCV001092224 RCV001862706 RCV003283970

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_768048563

3 SubmittersRCV001198374 RCV001751363 RCV001859203

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

SNV
Germline

Chr2:165310468

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001217698 RCV001270381 RCV003238322

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

SNV
Germline

Chr19:13208786

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_375958273

2 SubmittersRCV001218404 RCV001586061

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

rs_2054721635

3 SubmittersRCV001216762 RCV002274151 RCV003414012

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

SNV
Germline

Chr19:13255136

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2056510928

4 SubmittersRCV001216392 RCV001586058 RCV002249808

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

SNV
Germline

Chr19:13259589

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

rs_121908237

1 SubmittersRCV001217912

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

SNV
Germline

Chr19:13298956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1262547488

2 SubmittersRCV001220274 RCV002436848

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

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

rs_769503871

2 SubmittersRCV001207392 RCV003985485

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

SNV
Germline

Chr19:13234922

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1568446845

5 SubmittersRCV001204177 RCV001289289 RCV002463365

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

SNV
Germline

Chr19:13286950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762343454

2 SubmittersRCV001210979 RCV001760183

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

SNV
Germline

Chr19:13299033

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_754326939

2 SubmittersRCV001206934 RCV002436797

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

SNV
Germline

Chr19:13317133

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_375210532

4 SubmittersRCV001202706 RCV001664748 RCV002484087

NM_001127222.2(CACNA1A):c.5529-1268C>A

SNV
Germline

Chr19:13228795

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_765557914

2 SubmittersRCV001226545 RCV001819923

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

SNV
Germline

Chr19:13262771

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555745467

6 SubmittersRCV001247687 RCV001542498 RCV002227258 RCV003322872 RCV002272428 RCV003246815

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

Criteria Provided
Conflicting Classifications

rs_370396470

2 SubmittersRCV001247951 RCV002322162

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

SNV
Germline

Chr19:13257552

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

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

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

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

Criteria Provided
Conflicting Classifications

rs_2056767982

2 SubmittersRCV001253443 RCV002227259

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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
Developmental and epileptic encephalopathy, 11
Complex neurodevelopmental disorder
Episodic ataxia, type 9

No Assertion Criteria Provided

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
Episodic ataxia, type 9
Developmental and epileptic encephalopathy, 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_746060762

5 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

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

rs_767534576

2 SubmittersRCV001266453 RCV001880119

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

SNV
Germline

Chr19:13303872

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2057842904

3 SubmittersRCV001380079 RCV001268015

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

SNV
Germline

Chr2:165387017

Likely pathogenic

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

No Assertion Criteria Provided

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

rs_2056768058

2 SubmittersRCV001281101 RCV001368887

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

SNV
Germline

Chr19:13308248

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2057948502

3 SubmittersRCV001288484 RCV001871718 RCV003294188

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

SNV
Germline

Chr19:13308190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2057947681

3 SubmittersRCV001290255 RCV001863157 RCV002227266

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

rs_2056674737

1 SubmittersRCV001308810

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

SNV
Germline

Chr19:13262759

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2056767062

4 SubmittersRCV001296448 RCV002227269 RCV003145516 RCV003883173

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

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

rs_763944721

2 SubmittersRCV001299627 RCV002393709

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

SNV
Germline

Chr19:13365413

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

rs_1555774859

1 SubmittersRCV001301264

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

SNV
Germline

Chr19:13208814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_773057074

2 SubmittersRCV001316387 RCV002276688

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

SNV
Germline

Chr19:13230184

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

rs_2055612479

1 SubmittersRCV001319286

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

SNV
Germline

Chr19:13230212

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_375947967

2 SubmittersRCV001314022 RCV001540441

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

SNV
Germline

Chr19:13286653

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762006290

2 SubmittersRCV001315986 RCV002476470

NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly)

SNV
Germline

Chr19:13359679

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2059067761

2 SubmittersRCV001318930 RCV003318680

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

SNV
Germline

Chr19:13506022

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

rs_1568507151

1 SubmittersRCV001328544

NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)

SNV
Germline

Chr19:13208765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_753884600

2 SubmittersRCV001333787 RCV002546650

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

SNV
Germline

Chr19:13299151

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

rs_2057736834

1 SubmittersRCV001336208

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

Criteria Provided
Conflicting Classifications

rs_781738239

2 SubmittersRCV001342238 RCV002546954

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

SNV
Germline

Chr19:13285134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374286965

2 SubmittersRCV001347887 RCV002456508

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

SNV
Germline

Chr19:13209470

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1220294928

3 SubmittersRCV001371088 RCV003322889 RCV003444848 RCV004546643

NM_001127222.2(CACNA1A):c.5529-1245T>C

SNV
Germline

Chr19:13228772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_368791169

2 SubmittersRCV001369302 RCV002285480

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

rs_577006493

1 SubmittersRCV001359986

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

SNV
Germline

Chr19:13214335

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

rs_2144536202

1 SubmittersRCV001378180

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

SNV
Germline

Chr19:13252990

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144725957

2 SubmittersRCV001377850 RCV003322621

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

SNV
Germline

Chr19:13371780

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

rs_2144559526

1 SubmittersRCV001379527

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

SNV
Germline

Chr19:13455106

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

rs_2060983144

1 SubmittersRCV001377033

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

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

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

rs_1231997862

1 SubmittersRCV001388196

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

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

rs_2137673958

2 SubmittersRCV001449664 RCV001859333

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

SNV
Germline

Chr19:13214491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_371733571

3 SubmittersRCV001440062 RCV001664880 RCV003985497

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

SNV
Germline

Chr19:13506063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762262807

2 SubmittersRCV001786485 RCV001443407

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

SNV
Germline

Chr19:13300631

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1335209785

4 SubmittersRCV001468691 RCV001762691

NM_001127222.2(CACNA1A):c.979-7C>T

SNV
Germline

Chr19:13335916

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1375150525

2 SubmittersRCV001476551 RCV003323888

NM_001127222.2(CACNA1A):c.632-8C>G

SNV
Germline

Chr19:13365477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762951690

2 SubmittersRCV001495053 RCV003155412

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

SNV
Germline

Chr19:13455205

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

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

rs_2144559262

2 SubmittersRCV001575419 RCV002246439

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

SNV
Germline

Chr19:13209505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

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

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

rs_779576853

3 SubmittersRCV001763278 RCV002034491 RCV004584441

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

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

rs_746428515

2 SubmittersRCV001756812 RCV001882896

NM_001127222.2(CACNA1A):c.5529-1222T>C

SNV
Germline

Chr19:13228749

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_535900273

3 SubmittersRCV001815092 RCV002542463 RCV003146244

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

SNV
Germline

Chr19:13231775

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144629622

2 SubmittersRCV001823375 RCV002227282

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

rs_1042634748

3 SubmittersRCV001965187 RCV002285518

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

SNV
Germline

Chr19:13214500

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

rs_951196653

1 SubmittersRCV001991990

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

SNV
Germline

Chr19:13299322

Pathogenic

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, 52

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144958410

2 SubmittersRCV001979015 RCV002227289

NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)

SNV
Germline

Chr19:13261525

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144767386

2 SubmittersRCV002034426 RCV002466277

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

SNV
Germline

Chr19:13235220

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

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

rs_749526415

2 SubmittersRCV001901839 RCV002422915

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

SNV
Germline

Chr19:13298752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1406066197

2 SubmittersRCV001911086 RCV002266051

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

rs_371116746

2 SubmittersRCV001977562 RCV002361329

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

SNV
Germline

Chr19:13312722

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2145030587

2 SubmittersRCV002008523 RCV003313258

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

SNV
Germline

Chr19:13224762

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1010331313

2 SubmittersRCV001964303 RCV003229078

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

SNV
Germline

Chr19:13230188

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1296629000

2 SubmittersRCV001916764 RCV002227288

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

SNV
Germline

Chr19:13359736

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1212952550

4 SubmittersRCV002484767 RCV002407156 RCV001996862 RCV002563499

NM_001127222.2(CACNA1A):c.6526+6C>T

SNV
Germline

Chr19:13209306

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1366998583

3 SubmittersRCV001924443 RCV002560491 RCV003985531

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

SNV
Germline

Chr12:4912228

Pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

rs_2137673640

1 SubmittersRCV001994622

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

SNV
Germline

Chr19:13359769

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_771682941

2 SubmittersRCV001942154 RCV002291304

NM_001127222.2(CACNA1A):c.5529-1215C>T

SNV
Germline

Chr19:13228742

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

rs_2144616690

1 SubmittersRCV002037295

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

SNV
Germline

Chr19:13506095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

rs_2144646626

2 SubmittersRCV001993488 RCV003314713

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

SNV
Germline

Chr19:13275849

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

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

rs_2144535495

1 SubmittersRCV002000901

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

SNV
Germline

Chr19:13298555

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_1198604369

2 SubmittersRCV002361210 RCV001935221

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

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

rs_369084322

2 SubmittersRCV001899161 RCV003238877

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

SNV
Germline

Chr19:13255251

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_753467037

2 SubmittersRCV001889698 RCV003985529

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

SNV
Germline

Chr19:13312760

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_781006387

2 SubmittersRCV001951627 RCV002479592

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

rs_2144648058

1 SubmittersRCV002038382

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

SNV
Germline

Chr19:13257421

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_886037946

2 SubmittersRCV002227402 RCV003774680

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

SNV
Germline

Chr19:13262792

Pathogenic/Likely pathogenic

Spinocerebellar ataxia type 6
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
CACNA1A-associated disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144773045

3 SubmittersRCV002227403 RCV003234171 RCV003314034

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

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

rs_2144833336

1 SubmittersRCV002227405

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

SNV
Germline

Chr19:13303581

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

rs_2144524396

2 SubmittersRCV002244485 RCV003774696

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

rs_1025376971

2 SubmittersRCV002252518 RCV003094149

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

SNV
Germline

Chr12:4912225

Pathogenic/Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

2 SubmittersRCV002322693 RCV003099264

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

SNV
Germline

Chr19:13212141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002368640 RCV003408248 RCV003098184

NM_001127222.2(CACNA1A):c.5529-1264C>T

SNV
Germline

Chr19:13228791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

1 SubmittersRCV002472214

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

SNV
Germline

Chr19:13334488

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003064563 RCV004070157

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

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002735741 RCV003322636

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

1 SubmittersRCV002760506

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

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

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

1 SubmittersRCV002791441

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

SNV
Germline

Chr19:13365419

Pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

1 SubmittersRCV002856756

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

SNV
Germline

Chr19:13506041

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

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

1 SubmittersRCV002894624

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

SNV
Germline

Chr19:13371686

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV002904136

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

SNV
Germline

Chr19:13506066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002962039 RCV003443098

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

2 SubmittersRCV002995481 RCV004007746

NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys)

SNV
Germline

Chr19:13299148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003045189 RCV003014990

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
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003030221 RCV003232769

NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)

SNV
Germline

Chr19:13214599

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003036311 RCV003235757

NM_001127222.2(CACNA1A):c.1913+1G>A

SNV
Germline

Chr19:13308119

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003066191

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

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

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

2 SubmittersRCV003228702 RCV003779827

NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)

SNV
Germline

Chr19:13506040

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003233020 RCV003779849

NM_001127222.2(CACNA1A):c.2098G>A (p.Gly700Arg)

SNV
Germline

Chr19:13303773

Likely pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003233022

NM_001040142.2(SCN2A):c.477-2A>G

SNV
Unknown

Chr2:165308664

Likely pathogenic

Episodic ataxia, type 9

Criteria Provided
Single Submitter

1 SubmittersRCV003314426

NM_000217.3(KCNA1):c.863T>A (p.Leu288Gln)

SNV
Unknown

Chr12:4912241

Likely pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003335812

NM_001127222.2(CACNA1A):c.5216G>C (p.Arg1739Pro)

SNV
Germline

Chr19:13234954

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003336686

NM_001127222.2(CACNA1A):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr19:13506134

Pathogenic

Episodic ataxia type 2

Criteria Provided
Single Submitter

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

3 SubmittersRCV003423366 RCV003778399 RCV003994552

NM_000217.3(KCNA1):c.1207C>T (p.Pro403Ser)

SNV
Germline

Chr12:4912585

Pathogenic

Episodic ataxia type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003627413

NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)

SNV
Germline

Chr19:13317169

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003785421

NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter)

SNV
Germline

Chr19:13359647

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003783734

NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter)

SNV
Germline

Chr19:13317197

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003779401

NM_001127222.2(CACNA1A):c.5529-1270A>G

SNV
Germline

Chr19:13228797

Likely pathogenic

Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

1 SubmittersRCV003801965

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

SNV
Germline

Chr19:13257553

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003802561

NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)

SNV
Germline

Chr19:13505939

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003805033

NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)

SNV
Germline

Chr19:13261528

Pathogenic

Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003990490