"Eurofins Ntd Llc (ga)"[submitter] AND "CACNA1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288783	NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)	CACNA1A, LOC130063717 (A2258V +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 197539	NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe)	CACNA1A, LOC130063717 (S2247F +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 422068	NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp)	CACNA1A (R2233W +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 210557	NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)	CACNA1A	Insertion (inframe_insertion)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 197540	NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)	CACNA1A	Microsatellite (inframe_insertion)	Episodic ataxia type 2 +2 more	GUncertain significance
Select item 418101	NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del)	CACNA1A	Deletion (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 592749	NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)	CACNA1A	Indel (inframe_insertion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 419931	NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)	CACNA1A	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93562	NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +6 more	GBenign/Likely benign
Select item 422030	NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)	CACNA1A	Microsatellite (inframe_deletion)	CACNA1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 500186	NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp)	CACNA1A (R2206W +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 421988	NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)	CACNA1A (R2170C +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +5 more	GConflicting classifications of pathogenicity
Select item 166765	NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)	CACNA1A (R2165H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 289416	NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)	CACNA1A (R2156L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 197514	NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)	CACNA1A (R2134Q +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +2 more	GConflicting classifications of pathogenicity
Select item 128558	NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 384949	NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +2 more	GConflicting classifications of pathogenicity
Select item 128557	NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 497422	NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys)	CACNA1A (R2103K +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GUncertain significance
Select item 282735	NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)	CACNA1A (G2087V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 597706	NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287124	NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +2 more	GConflicting classifications of pathogenicity
Select item 451126	NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)	CACNA1A (P2002S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 373509	NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)	CACNA1A (R1983Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 381583	NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)	CACNA1A (R1967Q +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GConflicting classifications of pathogenicity
Select item 515383	NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285526	NM_001127222.2(CACNA1A):c.5732-6T>C	CACNA1A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 197028	NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284158	NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 384036	NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)	CACNA1A (V1885I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +6 more	GConflicting classifications of pathogenicity
Select item 497993	NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity
Select item 500851	NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)	CACNA1A (A1808T +3 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +3 more	GPathogenic/Likely pathogenic
Select item 287330	NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +4 more	GConflicting classifications of pathogenicity
Select item 286691	NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)	CACNA1A (D1725N +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +2 more	GConflicting classifications of pathogenicity
Select item 283174	NM_001127222.2(CACNA1A):c.5133+10G>A	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 196860	NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr)	CACNA1A (A1700T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 598607	NM_001127222.2(CACNA1A):c.5048C>T (p.Thr1683Ile)	CACNA1A (T1684I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196769	NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)	CACNA1A (R1673C +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GLikely pathogenic
Select item 166766	NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 283175	NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity
Select item 500602	NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu)	CACNA1A, LOC126862864 (K1411E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 283176	NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +4 more	GConflicting classifications of pathogenicity
Select item 195935	NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	CACNA1A, LOC126862864 (V1393M +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +7 more	GPathogenic/Likely pathogenic
Select item 290399	NM_001127222.2(CACNA1A):c.4089+3G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +2 more	GUncertain significance
Select item 195663	NM_001127222.2(CACNA1A):c.3822+1G>A	CACNA1A	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 511871	NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +3 more	GBenign/Likely benign
Select item 497421	NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)	CACNA1A (G1214S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286734	NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 195574	NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)	CACNA1A (E1207del +2 more)	Microsatellite (inframe_deletion)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 195573	NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)	CACNA1A (K1203del +2 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 93561	NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign
Select item 387224	NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 283514	NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 290394	NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity
Select item 383231	NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)	CACNA1A (Q1154E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +4 more	GBenign/Likely benign
Select item 195470	NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)	CACNA1A (V1147I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 195471	NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)	CACNA1A (P1138A +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 265064	NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)	CACNA1A (A1120T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 68428	NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)	CACNA1A (G1105S +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 195472	NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 128552	NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 288544	NM_001127222.2(CACNA1A):c.3092A>G (p.Glu1031Gly)	CACNA1A (E1032G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 128551	NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 194928	NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	CACNA1A (E1015K +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 574756	NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)	CACNA1A (R1007W +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 421524	NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])	CACNA1A	Microsatellite (inframe_insertion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 68427	NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)	CACNA1A (E993V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign
Select item 422571	NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)	CACNA1A (R957L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500995	NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val)	CACNA1A (A952V +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GUncertain significance
Select item 68426	NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)	CACNA1A (E918D +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 287919	NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser)	CACNA1A (P914S +2 more)	Indel (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 128549	NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 128548	NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)	CACNA1A (P914S +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 68425	NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)	CACNA1A (P897R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 283510	NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)	CACNA1A (R894Q +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 284367	NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 597345	NM_001127222.2(CACNA1A):c.2481G>A (p.Pro827=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594687	NM_001127222.2(CACNA1A):c.2131A>T (p.Ile711Phe)	CACNA1A (I712F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194720	NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 500377	NM_001127222.2(CACNA1A):c.1782-6C>T	CACNA1A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194023	NM_001127222.2(CACNA1A):c.1668+9T>C	CACNA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 93560	NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 380908	NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 282732	NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 193833	NM_001127222.2(CACNA1A):c.1555+10A>C	CACNA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 257508	NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)	CACNA1A	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 6 +6 more	GBenign/Likely benign
Select item 287562	NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 287542	NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392083	NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)	CACNA1A (R455Q +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 68420	NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	CACNA1A (A454T +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +6 more	GBenign/Likely benign
Select item 497888	NM_001127222.2(CACNA1A):c.1320T>C (p.Asp440=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 286279	NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93559	NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)	CACNA1A	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 6 +6 more	GBenign
Select item 286277	NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)	CACNA1A (N390K)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GUncertain significance
Select item 507510	NM_001127222.2(CACNA1A):c.1083-4C>G	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GBenign/Likely benign
Select item 593523	NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro)	CACNA1A, LOC126862866 (L356P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288880	NM_001127222.2(CACNA1A):c.978+9T>C	CACNA1A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 287410	NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser)	CACNA1A (G266S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 500577	NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

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