ClinVar for MedGen (Select 314039) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258095	NM_001127222.2(CACNA1A):c.3515dup (p.Ala1173fs)	CACNA1A (A1173fs +2 more)	Duplication (frameshift variant)	Episodic ataxia type 2	GLikely pathogenic
Select item 3248508	NC_000019.9:g.(?_13474954)_(13476240_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GLikely pathogenic
Select item 3248507	NC_000019.9:g.(?_13318860)_(13325442_?)dup	CACNA1A	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248504	NC_000019.9:g.(?_13249921)_(13318882_?)dup	CACNA1A, IER2 +2 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248503	NC_000019.9:g.(?_13470400)_(13482613_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3248502	NC_000019.9:g.(?_13335461)_(13342694_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3248500	NC_000019.9:g.(?_13370358)_(13373667_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3248499	NC_000019.9:g.(?_13409338)_(13411490_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3248498	NC_000019.9:g.(?_13414350)_(13418678_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3248497	NC_000019.9:g.(?_13363785)_(13363935_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248496	NC_000019.9:g.(?_13368144)_(13368385_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3248495	NC_000019.9:g.(?_13386644)_(13386790_?)del	CACNA1A	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3236096	NM_001127222.2(CACNA1A):c.5089dup (p.Leu1697fs)	CACNA1A (L1697fs +3 more)	Duplication (frameshift variant)	Episodic ataxia type 2	GLikely pathogenic
Select item 3236016	NM_001127222.2(CACNA1A):c.5000del (p.Leu1667fs)	CACNA1A (L1667fs +3 more)	Deletion (frameshift variant)	Episodic ataxia type 2	GPathogenic
Select item 3066035	NM_001127222.2(CACNA1A):c.3091_3094del	CACNA1A	Microsatellite (splice acceptor variant)	Episodic ataxia type 2 +1 more	GPathogenic
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 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 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)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2953327	NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)	CACNA1A (M59del)	Deletion (inframe_deletion)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +2 more	GUncertain significance
Select item 2953036	NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)	CACNA1A (G2071fs +3 more)	Deletion (frameshift variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2953028	NM_001127222.2(CACNA1A):c.4089+19G>A	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2952974	NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)	CACNA1A (R279S)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2952956	NM_001127221.2(CACNA1A):c.5581C>A (p.Pro1861Thr)	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)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2952938	NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)	CACNA1A	Duplication (inframe_insertion)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2952935	NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2952768	NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)	CACNA1A (C1248del +2 more)	Deletion (inframe_deletion)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2952614	NM_001127222.2(CACNA1A):c.1556-9C>T	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2952588	NM_001127222.2(CACNA1A):c.5626-12G>T	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2952549	NM_001127222.2(CACNA1A):c.2279+12T>G	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2952173	NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)	CACNA1A (R803fs +2 more)	Duplication (frameshift variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2952056	NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2951959	NM_001127222.2(CACNA1A):c.4388+6T>C	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2951792	NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2951629	NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)	CACNA1A (F453fs +1 more)	Deletion (frameshift variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2951553	NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)	CACNA1A (A841P +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2951551	NM_001127222.2(CACNA1A):c.539+12G>C	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2951536	NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GBenign
Select item 2951534	NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2951390	NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2951332	NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)	CACNA1A (L324fs)	Duplication (frameshift variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2951331	NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)	CACNA1A (E96*)	Single nucleotide variant (nonsense)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2951299	NM_001127222.2(CACNA1A):c.4389-2A>C	CACNA1A	Single nucleotide variant (splice acceptor variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2951227	NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)	CACNA1A (F146fs)	Insertion (frameshift variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2951220	NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)	CACNA1A (A747E +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2950982	NM_001127222.2(CACNA1A):c.4866+11C>T	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2950842	NM_001127222.2(CACNA1A):c.4590+5C>G	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2950704	NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)	CACNA1A	Deletion (inframe_deletion)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2950559	NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)	CACNA1A (P128L)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +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)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2950375	NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2950343	NM_001127222.2(CACNA1A):c.4314T>C (p.Tyr1438=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2950268	NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)	CACNA1A (M1584del +2 more)	Microsatellite (inframe_deletion)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2950000	NM_001127222.2(CACNA1A):c.1669-7G>C	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2949721	NM_001127222.2(CACNA1A):c.1914-20T>C	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +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
Select item 2948114	NM_001127222.2(CACNA1A):c.4867-13G>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2948054	NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)	CACNA1A (D2136E +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947984	NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)	CACNA1A (A1981D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +2 more	GUncertain significance
Select item 2947977	NM_001127222.2(CACNA1A):c.3267C>T (p.Gly1089=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2947821	NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)	CACNA1A (E267G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947592	NM_001127222.2(CACNA1A):c.5133+2T>A	CACNA1A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely pathogenic
Select item 2947565	NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)	CACNA1A (T1937S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947543	NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer)	CACNA1A	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2947516	NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)	CACNA1A (G2179D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947460	NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)	CACNA1A (V1807I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2947396	NM_001127222.2(CACNA1A):c.632-3C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance

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