Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	SNV Germline	Chr19:13303877	Pathogenic	Migraine, familial hemiplegic, 1 Migraine, sporadic hemiplegic, with progressive cerebellar ataxia Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 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.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.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.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.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.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.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.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.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_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.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.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.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.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.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.680T>G (p.Leu227Arg)	SNV Germline	Chr19:13365421	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 6	Criteria Provided Conflicting Classifications	CA16608957	rs_1057522420	3 SubmittersRCV000418581 RCV001333788
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)	SNV Germline	Chr19:13209333	Conflicting classifications of pathogenicity	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.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.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.1984C>T (p.Gln662Ter)	SNV Germline	Chr19:13307784	Pathogenic	Condition: not provided Spinocerebellar ataxia type 6	Criteria Provided Multiple Submitters No Conflicts	CA16620796	rs_1064795856	2 SubmittersRCV000478900 RCV003228937
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)	SNV Germline	Chr19:13286646	Conflicting classifications of pathogenicity	Condition: not provided 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.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.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.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.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.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_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.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.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.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.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_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.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.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.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.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.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.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.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.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.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.826G>T (p.Glu276Ter)	SNV Germline	Chr19:13359758	Pathogenic	Spinocerebellar ataxia type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2059069286	2 SubmittersRCV001328549 RCV002293523
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.519C>A (p.Asp173Glu)	SNV Germline	Chr19:13452896	Likely pathogenic	Spinocerebellar ataxia type 6	No Assertion Criteria Provided		rs_2144936093	1 SubmittersRCV001542500
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)	SNV Unknown	Chr19:13299288	Likely pathogenic	Spinocerebellar ataxia type 6	No Assertion Criteria Provided		rs_1233611505	1 SubmittersRCV001849210
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.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.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.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.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.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.1870A>T (p.Ile624Phe)	SNV Germline	Chr19:13308163	Likely pathogenic	Developmental and epileptic encephalopathy, 42 Spinocerebellar ataxia type 6	Criteria Provided Single Submitter		rs_2145004096	1 SubmittersRCV002273848
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)	SNV Germline	Chr19:13308228	Pathogenic	Spinocerebellar ataxia type 6	No Assertion Criteria Provided			1 SubmittersRCV002508177
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)	SNV Germline	Chr19:13332887	Pathogenic	Episodic ataxia type 2 Spinocerebellar ataxia type 6 Migraine, familial hemiplegic, 1 Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Single Submitter			2 SubmittersRCV003228702 RCV003779827
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)	SNV Germline	Chr19:13231846	Likely pathogenic	Spinocerebellar ataxia type 6	Criteria Provided Single Submitter			1 SubmittersRCV003989026

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

SNV
Germline

Chr19:13303877

Pathogenic

Migraine, familial hemiplegic, 1
Migraine, sporadic hemiplegic, with progressive cerebellar ataxia
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
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.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.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.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.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.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.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.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.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_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.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.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.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.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.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.680T>G (p.Leu227Arg)

SNV
Germline

Chr19:13365421

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 6

Criteria Provided
Conflicting Classifications

CA16608957

rs_1057522420

3 SubmittersRCV000418581 RCV001333788

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

SNV
Germline

Chr19:13209333

Conflicting classifications of pathogenicity

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.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.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.1984C>T (p.Gln662Ter)

SNV
Germline

Chr19:13307784

Pathogenic

Condition: not provided
Spinocerebellar ataxia type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16620796

rs_1064795856

2 SubmittersRCV000478900 RCV003228937

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

SNV
Germline

Chr19:13286646

Conflicting classifications of pathogenicity

Condition: not provided
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.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.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.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.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.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_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.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.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.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.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_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.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.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.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.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.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.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.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.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.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.826G>T (p.Glu276Ter)

SNV
Germline

Chr19:13359758

Pathogenic

Spinocerebellar ataxia type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2059069286

2 SubmittersRCV001328549 RCV002293523

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.519C>A (p.Asp173Glu)

SNV
Germline

Chr19:13452896

Likely pathogenic

Spinocerebellar ataxia type 6

No Assertion Criteria Provided

rs_2144936093

1 SubmittersRCV001542500

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

SNV
Unknown

Chr19:13299288

Likely pathogenic

Spinocerebellar ataxia type 6

No Assertion Criteria Provided

rs_1233611505

1 SubmittersRCV001849210

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.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.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.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.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.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.1870A>T (p.Ile624Phe)

SNV
Germline

Chr19:13308163

Likely pathogenic

Developmental and epileptic encephalopathy, 42
Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

rs_2145004096

1 SubmittersRCV002273848

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

SNV
Germline

Chr19:13308228

Pathogenic

Spinocerebellar ataxia type 6

No Assertion Criteria Provided

1 SubmittersRCV002508177

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

SNV
Germline

Chr19:13332887

Pathogenic

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

Criteria Provided
Single Submitter

2 SubmittersRCV003228702 RCV003779827

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

SNV
Germline

Chr19:13231846

Likely pathogenic

Spinocerebellar ataxia type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003989026