ClinVar for Gene (Select 773) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068936	NM_001127222.2(CACNA1A):c.5820G>A (p.Leu1940=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3067775	NM_001127222.2(CACNA1A):c.3735dup (p.Glu1246Ter)	CACNA1A (E1246* +2 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 3067643	NM_001127222.2(CACNA1A):c.1507G>C (p.Val503Leu)	CACNA1A (V503L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067628	NM_001127222.2(CACNA1A):c.2484G>C (p.Gln828His)	CACNA1A (Q828H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067328	NM_001127222.2(CACNA1A):c.1191A>C (p.Ser397=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066035	NM_001127222.2(CACNA1A):c.3091_3094del	CACNA1A	Microsatellite (splice acceptor variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3064486	NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)	CACNA1A (E1755G +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6	GLikely pathogenic
Select item 3062223	NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)	CACNA1A (R1025fs +2 more)	Duplication (frameshift variant)	Episodic ataxia type 2	GPathogenic
Select item 3062038	NM_001127222.2(CACNA1A):c.4115C>T (p.Ser1372Leu)	CACNA1A, LOC126862864 (S1372L +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 3062027	NM_001127222.2(CACNA1A):c.6128G>T (p.Gly2043Val)	CACNA1A (G2043V +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 3061177	NM_001127222.2(CACNA1A):c.4470C>A (p.Tyr1490Ter)	CACNA1A (Y1490* +2 more)	Single nucleotide variant (nonsense)	CACNA1A-related disorder	GLikely pathogenic
Select item 3061076	NM_001127222.2(CACNA1A):c.6962A>G (p.Gln2321Arg)	CACNA1A, LOC108663985 (Q2321R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance
Select item 3055704	NM_001127222.2(CACNA1A):c.2883C>T (p.His961=)	CACNA1A	Single nucleotide variant (synonymous variant)	CACNA1A-related disorder	GLikely benign
Select item 3051490	NM_001127222.2(CACNA1A):c.6696G>T (p.Arg2232=)	CACNA1A	Single nucleotide variant (synonymous variant)	CACNA1A-related disorder	GLikely benign
Select item 3051432	NM_001127222.2(CACNA1A):c.4827T>G (p.Ser1609=)	CACNA1A	Single nucleotide variant (synonymous variant)	CACNA1A-related disorder	GLikely benign
Select item 3050207	NM_001127222.2(CACNA1A):c.7293C>A (p.Ala2431=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 3049770	NM_001127222.2(CACNA1A):c.7440C>T (p.His2480=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 3047239	NM_001127222.2(CACNA1A):c.1362A>T (p.Arg454=)	CACNA1A	Single nucleotide variant (synonymous variant)	CACNA1A-related disorder	GLikely benign
Select item 3046604	NM_001127222.2(CACNA1A):c.7251G>A (p.Glu2417=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 3045790	NM_001127222.2(CACNA1A):c.7257T>C (p.Asp2419=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 3045015	NM_001127222.2(CACNA1A):c.3789G>A (p.Glu1263=)	CACNA1A	Single nucleotide variant (synonymous variant)	CACNA1A-related disorder	GLikely benign
Select item 3044623	NM_001127222.2(CACNA1A):c.7310C>A (p.Pro2437Gln)	CACNA1A (P2437Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance
Select item 3034831	NM_001127222.2(CACNA1A):c.5406G>A (p.Leu1802=)	CACNA1A	Single nucleotide variant (synonymous variant)	CACNA1A-related disorder	GLikely benign
Select item 3030884	NM_001127222.2(CACNA1A):c.6025A>C (p.Thr2009Pro)	CACNA1A (T2009P +3 more)	Single nucleotide variant (missense variant)	CACNA1A-related disorder	GUncertain significance
Select item 3027248	NM_001127222.2(CACNA1A):c.6778C>T (p.Gln2260Ter)	CACNA1A, LOC130063717 (Q2260* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3027173	NM_001127222.2(CACNA1A):c.4956C>T (p.Asn1652=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3026943	NM_001127222.2(CACNA1A):c.4247G>T (p.Cys1416Phe)	CACNA1A, LOC126862864 (C1416F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026825	NM_001127222.2(CACNA1A):c.1198+8C>T	CACNA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026066	NM_001127222.2(CACNA1A):c.7301A>G (p.Tyr2434Cys)	CACNA1A (Y2434C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3025686	NM_001127222.2(CACNA1A):c.6937CAG[18] (p.Gln2325_Ala2326insGlnGlnGlnGlnGln)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	CACNA1A-related disorder +1 more	GLikely benign
Select item 2954544	NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)	CACNA1A (G156V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2954540	NM_001127222.2(CACNA1A):c.3036G>C (p.Thr1012=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2954469	NM_001127222.2(CACNA1A):c.936C>T (p.Phe312=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2954336	NM_001127222.2(CACNA1A):c.400-4C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2954213	NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs)	CACNA1A (D927fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2954006	NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)	CACNA1A (D1535E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953679	NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)	CACNA1A (I1724M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953642	NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)	CACNA1A (E982K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953382	NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)	CACNA1A (E463K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953327	NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)	CACNA1A (M59del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953049	NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)	CACNA1A (F1685S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2953036	NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)	CACNA1A (G2071fs +3 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2953028	NM_001127222.2(CACNA1A):c.4089+19G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952974	NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)	CACNA1A (R279S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952956	NM_001127222.2(CACNA1A):c.5529-1219C>A	CACNA1A (P1861T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952955	NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)	CACNA1A (A1786S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952938	NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)	CACNA1A	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952935	NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952768	NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)	CACNA1A (C1248del +2 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952740	NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)	CACNA1A (A1836T +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952614	NM_001127222.2(CACNA1A):c.1556-9C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952588	NM_001127222.2(CACNA1A):c.5626-12G>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952585	NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala)	CACNA1A, LOC130063717 (G2252A +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2952549	NM_001127222.2(CACNA1A):c.2279+12T>G	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2952173	NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)	CACNA1A (R803fs +2 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2952056	NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2951959	NM_001127222.2(CACNA1A):c.4388+6T>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951792	NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2951629	NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)	CACNA1A (F453fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951553	NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)	CACNA1A (A841P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951551	NM_001127222.2(CACNA1A):c.539+12G>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2951541	NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)	CACNA1A, LOC126862864 (A1391V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951536	NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GBenign
Select item 2951534	NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951405	NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)	CACNA1A (P1825S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951390	NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2951352	NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)	CACNA1A (H935R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951332	NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)	CACNA1A (L324fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951331	NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)	CACNA1A (E96*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951299	NM_001127222.2(CACNA1A):c.4389-2A>C	CACNA1A	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951227	NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)	CACNA1A (F146fs)	Insertion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2951220	NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)	CACNA1A (A747E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950982	NM_001127222.2(CACNA1A):c.4866+11C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2950842	NM_001127222.2(CACNA1A):c.4590+5C>G	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950704	NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)	CACNA1A	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950638	NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)	CACNA1A (T844I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950622	NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)	CACNA1A (D517A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950559	NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)	CACNA1A (P128L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950477	NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)	CACNA1A (P1217S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950375	NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2950343	NM_001127222.2(CACNA1A):c.4314T>C (p.Tyr1438=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2950268	NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)	CACNA1A (M1584del +2 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2950000	NM_001127222.2(CACNA1A):c.1669-7G>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949721	NM_001127222.2(CACNA1A):c.1914-20T>C	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949612	NM_001127222.2(CACNA1A):c.978+19G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949372	NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)	CACNA1A (V199A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2949363	NM_001127222.2(CACNA1A):c.978+12T>G	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949239	NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)	CACNA1A (D714H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely pathogenic
Select item 2949205	NM_001127222.2(CACNA1A):c.4278T>C (p.Asn1426=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2949140	NM_001127222.2(CACNA1A):c.3012G>A (p.Arg1004=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948995	NM_001127222.2(CACNA1A):c.1494C>T (p.Leu498=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948766	NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs)	CACNA1A (A885fs +2 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2948701	NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer)	CACNA1A, LOC126862864	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2948619	NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val)	CACNA1A, LOC126862865 (I1315V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2948559	NM_001127222.2(CACNA1A):c.6303+5G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2948540	NM_001127222.2(CACNA1A):c.2046C>A (p.Gly682=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948530	NM_001127222.2(CACNA1A):c.4266C>A (p.Leu1422=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948312	NM_001127222.2(CACNA1A):c.3823-16C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948207	NM_001127222.2(CACNA1A):c.5988G>C (p.Thr1996=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948134	NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly)	CACNA1A (A1664G +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance

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