ClinVar for MedGen (Select 331388) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663963	NM_001127222.2(CACNA1A):c.3641C>T (p.Pro1214Leu)	CACNA1A (P1214L +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 2584600	NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)	CACNA1A (R1006L +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GUncertain significance
Select item 2571634	NM_001127222.2(CACNA1A):c.6091G>C (p.Val2031Leu)	CACNA1A (V2031L +3 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 2505538	NM_001127222.2(CACNA1A):c.816T>A (p.Cys272Ter)	CACNA1A (C272*)	Single nucleotide variant (nonsense)	Migraine, familial hemiplegic, 1	GLikely pathogenic
Select item 2505092	GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1	CACNA1A	Copy number loss	Developmental and epileptic encephalopathy, 42 +3 more	Gnot provided
Select item 2505064	NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)	CACNA1A (E1979A +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +3 more	Gnot provided
Select item 2504617	NM_001029896.2(WDR45):c.988G>A (p.Gly330Arg)	WDR45 (G330R +1 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 2502284	NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)	CACNA1A (Q413*)	Single nucleotide variant (nonsense)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2502280	NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)	CACNA1A (L1804F +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +2 more	Gnot provided
Select item 2500274	NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)	CACNA1A (T1512A +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GLikely pathogenic
Select item 2500116	NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)	CACNA1A (R1029G +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +4 more	GUncertain significance
Select item 2500115	NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)	CACNA1A (A2091T +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +3 more	GUncertain significance
Select item 1805843	NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)	CACNA1A (R2370Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 1709810	NM_001127222.2(CACNA1A):c.4702G>A (p.Glu1568Lys)	CACNA1A (E1568K +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 1707523	NM_001127222.2(CACNA1A):c.3990-2A>C	CACNA1A	Single nucleotide variant (splice acceptor variant)	Migraine, familial hemiplegic, 1	GPathogenic
Select item 1695896	NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu)	CACNA1A (F1505L +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +2 more	Gnot provided
Select item 1679533	NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)	CACNA1A (Q1673fs +3 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 52 +3 more	GPathogenic
Select item 1679532	NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)	CACNA1A (I1707T +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679531	NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)	CACNA1A (S218P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679530	NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)	CACNA1A (L617S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679529	NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)	CACNA1A	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679528	NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)	CACNA1A (G700E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679527	NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)	CACNA1A (V713M +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GPathogenic/Likely pathogenic
Select item 1679526	NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)	CACNA1A, LOC126862865 (D1316E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679525	NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)	CACNA1A (V1806A +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679524	NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)	CACNA1A (L1344P +2 more)	Single nucleotide variant (missense variant)	CACNA1A-associated disorder +4 more	GPathogenic/Likely pathogenic
Select item 1679523	NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	CACNA1A (A1507T +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GPathogenic
Select item 1526165	NM_001127222.2(CACNA1A):c.978+1G>C	CACNA1A	Single nucleotide variant (splice donor variant)	Migraine, familial hemiplegic, 1	GLikely pathogenic
Select item 1514441	NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn)	CACNA1A (D2190N +3 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +2 more	GUncertain significance
Select item 1460493	NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)	CACNA1A (G1002R +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1447682	NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)	CACNA1A (N283S)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +5 more	GConflicting classifications of pathogenicity
Select item 1441063	NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)	CACNA1A (K771* +2 more)	Single nucleotide variant (nonsense)	Migraine, familial hemiplegic, 1 +4 more	GPathogenic
Select item 1421109	NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)	CACNA1A (V1811I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +4 more	GPathogenic/Likely pathogenic
Select item 1398258	NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)	CACNA1A (C281fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 52 +4 more	GPathogenic
Select item 1391549	NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)	CACNA1A (G998E +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GUncertain significance
Select item 1345878	NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)	CACNA1A (A44T)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1338921	NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	CACNA1A (R1779* +3 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 1299251	NM_001127222.2(CACNA1A):c.2488A>G (p.Asn830Asp)	CACNA1A (N830D +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +1 more	GUncertain significance
Select item 1295862	NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)	CACNA1A, LOC108663985 (Q2325del +1 more)	Microsatellite (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 1 +4 more	GBenign
Select item 1285153	NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	Episodic ataxia type 2 +4 more	GBenign/Likely benign
Select item 1256312	NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)	CACNA1A (A2443V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 6 +4 more	GBenign/Likely benign
Select item 1249720	NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +4 more	GBenign
Select item 1207373	NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)	CACNA1A (P2421L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Migraine, familial hemiplegic, 1 +4 more	GLikely benign
Select item 1192677	NM_001127222.2(CACNA1A):c.1199-31A>G	CACNA1A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1192676	NM_001127222.2(CACNA1A):c.1987-98C>T	CACNA1A	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 6 +4 more	GBenign
Select item 1192599	NM_001127222.2(CACNA1A):c.4950+96A>C	CACNA1A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1192598	NM_001127222.2(CACNA1A):c.5625+50CTT[4]	CACNA1A	Microsatellite (intron variant)	not provided +4 more	GBenign
Select item 1192597	NM_001127222.2(CACNA1A):c.5941-205T>C	CACNA1A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1192557	NM_001127222.2(CACNA1A):c.6303+94del	CACNA1A	Deletion (intron variant)	Spinocerebellar ataxia type 6 +4 more	GBenign
Select item 1192556	NM_001127222.2(CACNA1A):c.6526+124G>C	CACNA1A	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 6 +4 more	GBenign
Select item 1192555	NM_001127222.2(CACNA1A):c.6526+137A>G	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GBenign
Select item 1183554	NM_001127222.2(CACNA1A):c.6189+74A>C	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GBenign
Select item 1061497	NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)	CACNA1A (R2123P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +3 more	GConflicting classifications of pathogenicity
Select item 1039348	NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)	CACNA1A (H2218P +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1016912	NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)	CACNA1A (G1135S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +3 more	GConflicting classifications of pathogenicity
Select item 1012929	NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)	CACNA1A (G2481R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 6 +4 more	GUncertain significance
Select item 1000651	NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)	CACNA1A (I1602V +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 1000333	NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)	CACNA1A (T1355I +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +5 more	GConflicting classifications of pathogenicity
Select item 995995	NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	CACNA1A (S615R +1 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +4 more	GConflicting classifications of pathogenicity
Select item 992630	NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)	CACNA1A (S1343P +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity
Select item 976736	NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)	CACNA1A (T1355N +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GPathogenic/Likely pathogenic
Select item 976218	NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)	CACNA1A (S1343Y +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GConflicting classifications of pathogenicity
Select item 976099	NM_001127222.2(CACNA1A):c.4103G>C (p.Cys1368Ser)	CACNA1A, LOC126862864 (C1368S +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 971813	NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	CACNA1A (R1355Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 935554	NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)	CACNA1A (R1756W +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GConflicting classifications of pathogenicity
Select item 934341	NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)	CACNA1A (E512K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 931951	NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)	CACNA1A (L389P)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +2 more	GUncertain significance
Select item 931950	NM_001127222.2(CACNA1A):c.4089+18T>G	CACNA1A	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 931816	NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)	CACNA1A (H2216P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931618	NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)	CACNA1A (R936Q +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +3 more	GConflicting classifications of pathogenicity
Select item 931418	NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)	CACNA1A (E1212* +2 more)	Single nucleotide variant (nonsense)	Migraine, familial hemiplegic, 1	GLikely pathogenic
Select item 931379	NM_001127222.2(CACNA1A):c.1555+3_1555+6del	CACNA1A	Deletion (splice donor variant)	Migraine, familial hemiplegic, 1 +2 more	GUncertain significance
Select item 930351	NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)	CACNA1A, LOC126862865 (V1305I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 847841	NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys)	CACNA1A (E436K +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GUncertain significance
Select item 837522	NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)	CACNA1A (F550fs +1 more)	Deletion (frameshift variant)	Episodic ataxia type 2 +3 more	GPathogenic/Likely pathogenic
Select item 835237	NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)	CACNA1A (Y546* +1 more)	Single nucleotide variant (nonsense)	Episodic ataxia type 2 +4 more	GPathogenic
Select item 808483	NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg)	CACNA1A (L231R)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 803534	NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met)	CACNA1A, LOC126862866 (I345M)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GUncertain significance
Select item 774390	NM_001127222.2(CACNA1A):c.979-10C>A	CACNA1A, LOC126862866	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +6 more	GBenign/Likely benign
Select item 692001	NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)	CACNA1A (I613M +1 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +3 more	GLikely pathogenic
Select item 684467	NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val)	CACNA1A (E400V)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +3 more	Gnot provided
Select item 680125	NM_001127222.2(CACNA1A):c.4756-97G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +4 more	GBenign
Select item 680057	NM_001127222.2(CACNA1A):c.2280-68C>A	CACNA1A	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 6 +4 more	GBenign
Select item 678193	NM_001127222.2(CACNA1A):c.5731+49C>T	CACNA1A	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 1 +4 more	GBenign
Select item 678179	NM_001127222.2(CACNA1A):c.4867-71A>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +4 more	GBenign
Select item 678175	NM_001127222.2(CACNA1A):c.4089+71T>C	CACNA1A	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 1 +4 more	GBenign
Select item 678170	NM_001127222.2(CACNA1A):c.1198+48G>A	CACNA1A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 678168	NM_001127222.2(CACNA1A):c.293+53G>A	CACNA1A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 640253	NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)	CACNA1A (I108V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely pathogenic
Select item 638582	NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	CACNA1A (R1667P +3 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +6 more	GPathogenic/Likely pathogenic
Select item 598990	NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)	CACNA1A	Deletion (3 prime UTR variant +1 more)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 585567	NM_001127222.2(CACNA1A):c.3692+1G>A	CACNA1A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 42 +3 more	GConflicting classifications of pathogenicity
Select item 572781	NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)	CACNA1A (G899S +2 more)	Single nucleotide variant (missense variant)	CACNA1A-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 560966	NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val)	CACNA1A (G230V)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 545691	NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	CACNA1A (R279C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 542832	NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)	CACNA1A (R1558H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +4 more	GUncertain significance
Select item 515030	NM_001127222.2(CACNA1A):c.1199-17G>C	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GBenign/Likely benign
Select item 499409	NM_001127222.2(CACNA1A):c.3090-5C>T	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GConflicting classifications of pathogenicity
Select item 476244	NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)	CACNA1A (P969fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 453002	NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)	CACNA1A (R976L +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GUncertain significance

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