"Ambry Genetics"[submitter] AND "CACNA1I"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2480003	NM_021096.4(CACNA1I):c.49G>A (p.Ala17Thr)	CACNA1I (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136441	NM_021096.4(CACNA1I):c.68C>T (p.Thr23Met)	CACNA1I (T23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136442	NM_021096.4(CACNA1I):c.73C>G (p.Gln25Glu)	CACNA1I (Q25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136408	NM_021096.4(CACNA1I):c.122C>A (p.Pro41His)	CACNA1I (P41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136421	NM_021096.4(CACNA1I):c.206G>A (p.Arg69Gln)	CACNA1I (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374676	NM_021096.4(CACNA1I):c.721C>A (p.Leu241Met)	CACNA1I (L241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382589	NM_021096.4(CACNA1I):c.746G>A (p.Gly249Glu)	CACNA1I (G249E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360366	NM_021096.4(CACNA1I):c.784G>T (p.Asp262Tyr)	CACNA1I (D262Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556713	NM_021096.4(CACNA1I):c.835G>C (p.Gly279Arg)	CACNA1I (G279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136443	NM_021096.4(CACNA1I):c.872G>A (p.Arg291His)	CACNA1I (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136444	NM_021096.4(CACNA1I):c.898G>A (p.Val300Ile)	CACNA1I (V300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587951	NM_021096.4(CACNA1I):c.983C>T (p.Thr328Met)	CACNA1I (T328M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529122	NM_021096.4(CACNA1I):c.1027A>G (p.Ile343Val)	CACNA1I (I343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136409	NM_021096.4(CACNA1I):c.1246C>T (p.Arg416Trp)	CACNA1I (R416W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236404	NM_021096.4(CACNA1I):c.1271C>G (p.Thr424Arg)	CACNA1I (T424R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619499	NM_021096.4(CACNA1I):c.1277C>T (p.Ala426Val)	CACNA1I (A426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409807	NM_021096.4(CACNA1I):c.1285G>A (p.Ala429Thr)	CACNA1I (A429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370250	NM_021096.4(CACNA1I):c.1297G>A (p.Asp433Asn)	CACNA1I (D433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338858	NM_021096.4(CACNA1I):c.1311G>C (p.Glu437Asp)	CACNA1I (E437D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136410	NM_021096.4(CACNA1I):c.1364G>A (p.Gly455Asp)	CACNA1I (G455D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339866	NM_021096.4(CACNA1I):c.1387C>T (p.Arg463Trp)	CACNA1I (R463W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136411	NM_021096.4(CACNA1I):c.1388G>A (p.Arg463Gln)	CACNA1I (R463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136412	NM_021096.4(CACNA1I):c.1453C>T (p.Arg485Trp)	CACNA1I (R485W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602180	NM_021096.4(CACNA1I):c.1454G>A (p.Arg485Gln)	CACNA1I (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136413	NM_021096.4(CACNA1I):c.1478G>A (p.Gly493Asp)	CACNA1I (G493D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136414	NM_021096.4(CACNA1I):c.1498C>T (p.His500Tyr)	CACNA1I (H500Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136415	NM_021096.4(CACNA1I):c.1508G>A (p.Ser503Asn)	CACNA1I (S503N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399593	NM_021096.4(CACNA1I):c.1613T>C (p.Leu538Pro)	CACNA1I (L503P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284852	NM_021096.4(CACNA1I):c.1647T>A (p.Asp549Glu)	CACNA1I (D549E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136416	NM_021096.4(CACNA1I):c.1651G>T (p.Ala551Ser)	CACNA1I (A551S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136417	NM_021096.4(CACNA1I):c.1665C>G (p.Cys555Trp)	CACNA1I (C520W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136418	NM_021096.4(CACNA1I):c.1684C>T (p.Arg562Trp)	CACNA1I (R562W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210628	NM_021096.4(CACNA1I):c.1687C>T (p.Arg563Trp)	CACNA1I (R528W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467412	NM_021096.4(CACNA1I):c.1711G>A (p.Asp571Asn)	CACNA1I (D536N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215721	NM_021096.4(CACNA1I):c.1715C>T (p.Ser572Leu)	CACNA1I (S537L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480574	NM_021096.4(CACNA1I):c.1742G>A (p.Ser581Asn)	CACNA1I (S546N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563374	NM_021096.4(CACNA1I):c.1777G>A (p.Gly593Arg)	CACNA1I (G558R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136419	NM_021096.4(CACNA1I):c.1784G>A (p.Arg595Gln)	CACNA1I (R595Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218800	NM_021096.4(CACNA1I):c.1798G>A (p.Gly600Arg)	CACNA1I (G565R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136420	NM_021096.4(CACNA1I):c.1903G>C (p.Gly635Arg)	CACNA1I (G600R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136422	NM_021096.4(CACNA1I):c.2372G>A (p.Arg791His)	CACNA1I (R791H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530391	NM_021096.4(CACNA1I):c.2806C>T (p.Leu936Phe)	CACNA1I (L901F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272945	NM_021096.4(CACNA1I):c.2843G>A (p.Gly948Asp)	CACNA1I (G913D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136423	NM_021096.4(CACNA1I):c.2864T>C (p.Met955Thr)	CACNA1I (M920T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388312	NM_021096.4(CACNA1I):c.2909C>G (p.Ser970Cys)	CACNA1I (S935C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393358	NM_021096.4(CACNA1I):c.2996C>T (p.Pro999Leu)	CACNA1I (P999L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522823	NM_021096.4(CACNA1I):c.3031C>A (p.Arg1011Ser)	CACNA1I (R1011S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136424	NM_021096.4(CACNA1I):c.3043G>C (p.Ala1015Pro)	CACNA1I (A1015P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468434	NM_021096.4(CACNA1I):c.3046C>G (p.Arg1016Gly)	CACNA1I (R1016G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136425	NM_021096.4(CACNA1I):c.3047G>A (p.Arg1016Gln)	CACNA1I (R981Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490651	NM_021096.4(CACNA1I):c.3052T>A (p.Cys1018Ser)	CACNA1I (C1018S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226887	NM_021096.4(CACNA1I):c.3146G>A (p.Arg1049His)	CACNA1I (R1049H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136426	NM_021096.4(CACNA1I):c.3150C>A (p.His1050Gln)	CACNA1I (H1015Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263007	NM_021096.4(CACNA1I):c.3218C>G (p.Ala1073Gly)	CACNA1I (A1073G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410279	NM_021096.4(CACNA1I):c.3221T>G (p.Val1074Gly)	CACNA1I (V1074G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136427	NM_021096.4(CACNA1I):c.3230A>C (p.His1077Pro)	CACNA1I (H1042P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222383	NM_021096.4(CACNA1I):c.3241G>C (p.Ala1081Pro)	CACNA1I (A1046P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405245	NM_021096.4(CACNA1I):c.3251C>G (p.Ala1084Gly)	CACNA1I (A1049G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136428	NM_021096.4(CACNA1I):c.3344G>A (p.Arg1115His)	CACNA1I (R1115H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536612	NM_021096.4(CACNA1I):c.3392G>T (p.Arg1131Leu)	CACNA1I (R1131L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3136430	NM_021096.4(CACNA1I):c.3526G>A (p.Val1176Ile)	CACNA1I (V1141I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622101	NM_021096.4(CACNA1I):c.3589G>A (p.Gly1197Ser)	CACNA1I (G1197S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604006	NM_021096.4(CACNA1I):c.3635C>T (p.Thr1212Met)	CACNA1I (T1177M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537217	NM_021096.4(CACNA1I):c.3965T>C (p.Ile1322Thr)	CACNA1I (I1322T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136431	NM_021096.4(CACNA1I):c.4012G>A (p.Val1338Met)	CACNA1I (V1338M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243148	NM_021096.4(CACNA1I):c.4274T>C (p.Met1425Thr)	CACNA1I (M1390T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2239718	NM_021096.4(CACNA1I):c.4504G>A (p.Val1502Ile)	CACNA1I (V1502I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210302	NM_021096.4(CACNA1I):c.4549A>G (p.Thr1517Ala)	CACNA1I (T1482A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557670	NM_021096.4(CACNA1I):c.4583C>T (p.Thr1528Ile)	CACNA1I (T1493I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347178	NM_021096.4(CACNA1I):c.4603G>T (p.Val1535Leu)	CACNA1I (V1500L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557713	NM_021096.4(CACNA1I):c.4771C>T (p.Arg1591Cys)	CACNA1I (R1591C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262327	NM_021096.4(CACNA1I):c.4925G>A (p.Gly1642Glu)	CACNA1I (G1642E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570013	NM_021096.4(CACNA1I):c.4946A>C (p.Glu1649Ala)	CACNA1I (E1614A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136432	NM_021096.4(CACNA1I):c.4984G>A (p.Glu1662Lys)	CACNA1I (E1627K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346580	NM_021096.4(CACNA1I):c.5251G>A (p.Glu1751Lys)	CACNA1I (E1716K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136433	NM_021096.4(CACNA1I):c.5321G>A (p.Arg1774Gln)	CACNA1I (R1774Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268104	NM_021096.4(CACNA1I):c.5362G>A (p.Gly1788Ser)	CACNA1I (G1788S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598184	NM_021096.4(CACNA1I):c.5363G>A (p.Gly1788Asp)	CACNA1I (G1788D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518041	NM_021096.4(CACNA1I):c.5374C>T (p.Arg1792Cys)	CACNA1I (R1792C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336346	NM_021096.4(CACNA1I):c.5390C>T (p.Ala1797Val)	CACNA1I (A1762V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136435	NM_021096.4(CACNA1I):c.5402T>A (p.Leu1801Gln)	CACNA1I (L1801Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254402	NM_021096.4(CACNA1I):c.5620C>T (p.Leu1874Phe)	CACNA1I (L1839F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136436	NM_021096.4(CACNA1I):c.5691G>A (p.Met1897Ile)	CACNA1I (M1862I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212372	NM_021096.4(CACNA1I):c.5692C>T (p.Arg1898Cys)	CACNA1I (R1898C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136437	NM_021096.4(CACNA1I):c.5710G>A (p.Glu1904Lys)	CACNA1I (E1869K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274831	NM_021096.4(CACNA1I):c.5717T>G (p.Phe1906Cys)	CACNA1I (F1871C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460532	NM_021096.4(CACNA1I):c.5744C>T (p.Ser1915Leu)	CACNA1I (S1880L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599604	NM_021096.4(CACNA1I):c.5747C>T (p.Pro1916Leu)	CACNA1I (P1881L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594569	NM_021096.4(CACNA1I):c.5801G>A (p.Arg1934Gln)	CACNA1I (R1934Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136438	NM_021096.4(CACNA1I):c.5878A>G (p.Met1960Val)	CACNA1I (M1925V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351695	NM_021096.4(CACNA1I):c.5887G>A (p.Glu1963Lys)	CACNA1I (E1928K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291029	NM_021096.4(CACNA1I):c.5948G>C (p.Gly1983Ala)	CACNA1I (G1983A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554564	NM_021096.4(CACNA1I):c.5983G>T (p.Ala1995Ser)	CACNA1I (A1960S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351251	NM_021096.4(CACNA1I):c.5992C>T (p.Arg1998Trp)	CACNA1I (R1963W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615247	NM_021096.4(CACNA1I):c.5993G>A (p.Arg1998Gln)	CACNA1I (R1963Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568602	NM_021096.4(CACNA1I):c.6061C>A (p.Pro2021Thr)	CACNA1I (P2021T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332135	NM_021096.4(CACNA1I):c.6322G>C (p.Glu2108Gln)	CACNA1I (E2108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136439	NM_021096.4(CACNA1I):c.6356C>G (p.Ala2119Gly)	CACNA1I (A2084G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612448	NM_021096.4(CACNA1I):c.6451A>G (p.Arg2151Gly)	CACNA1I (R2116G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394572	NM_021096.4(CACNA1I):c.6515A>C (p.His2172Pro)	CACNA1I (H2172P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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