ClinVar for Gene (Select 8911) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366697	NM_021096.4(CACNA1I):c.4366C>T (p.Arg1456Cys)	CACNA1I (R1421C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366081	NM_021096.4(CACNA1I):c.1408G>T (p.Glu470Ter)	CACNA1I (E470*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3365739	NM_021096.4(CACNA1I):c.664A>T (p.Ile222Phe)	CACNA1I (I222F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365658	NM_021096.4(CACNA1I):c.577C>T (p.Pro193Ser)	CACNA1I (P193S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365459	NM_021096.4(CACNA1I):c.1805C>T (p.Ser602Phe)	CACNA1I (S567F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365431	NM_021096.4(CACNA1I):c.5264C>A (p.Ala1755Asp)	CACNA1I (A1720D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364646	NM_021096.4(CACNA1I):c.4155C>G (p.Ile1385Met)	CACNA1I (I1350M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364579	NM_021096.4(CACNA1I):c.4950C>A (p.Asn1650Lys)	CACNA1I (N1615K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364489	NM_021096.4(CACNA1I):c.5836C>T (p.Pro1946Ser)	CACNA1I (P1911S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364308	NM_021096.4(CACNA1I):c.6350_6355dup (p.Gly2118_Ala2119insGlyGly)	CACNA1I	Duplication	not provided	GUncertain significance
Select item 3364300	NM_021096.4(CACNA1I):c.1000del (p.His334fs)	CACNA1I (H334fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364222	NM_021096.4(CACNA1I):c.4898A>T (p.Tyr1633Phe)	CACNA1I (Y1598F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363982	NM_021096.4(CACNA1I):c.494A>G (p.Tyr165Cys)	CACNA1I (Y165C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362850	NM_021096.4(CACNA1I):c.1322A>T (p.Tyr441Phe)	CACNA1I (Y441F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and with or without seizures	GLikely pathogenic
Select item 3362757	NM_021096.4(CACNA1I):c.3145C>T (p.Arg1049Cys)	CACNA1I (R1014C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and with or without seizures	GUncertain significance
Select item 3361650	NM_021096.4(CACNA1I):c.6616C>G (p.Gln2206Glu)	CACNA1I (Q2171E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361262	NM_021096.4(CACNA1I):c.2348T>G (p.Ile783Ser)	CACNA1I (I748S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361155	NM_021096.4(CACNA1I):c.5111T>A (p.Phe1704Tyr)	CACNA1I (F1669Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360906	NM_021096.4(CACNA1I):c.3664A>G (p.Lys1222Glu)	CACNA1I (K1187E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360362	NM_021096.4(CACNA1I):c.572G>A (p.Arg191His)	CACNA1I (R191H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360046	NM_021096.4(CACNA1I):c.3499A>G (p.Ile1167Val)	CACNA1I (I1132V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359746	NM_021096.4(CACNA1I):c.3655A>G (p.Met1219Val)	CACNA1I (M1184V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359708	NM_021096.4(CACNA1I):c.341T>C (p.Ile114Thr)	CACNA1I (I114T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358895	NM_021096.4(CACNA1I):c.3427G>A (p.Glu1143Lys)	CACNA1I (E1108K +1 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	GUncertain significance
Select item 3356379	NM_021096.4(CACNA1I):c.1574G>A (p.Cys525Tyr)	CACNA1I (C490Y +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3355914	NM_021096.4(CACNA1I):c.5232C>G (p.Ala1744=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GBenign
Select item 3355704	NM_021096.4(CACNA1I):c.1422C>T (p.Pro474=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3352631	NM_021096.4(CACNA1I):c.1513C>A (p.His505Asn)	CACNA1I (H505N)	Single nucleotide variant (missense variant +1 more)	CACNA1I-related disorder	GBenign
Select item 3351782	NM_021096.4(CACNA1I):c.5745G>A (p.Ser1915=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3351274	NM_021096.4(CACNA1I):c.3724G>A (p.Val1242Met)	CACNA1I (V1207M +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3349969	NM_021096.4(CACNA1I):c.5220G>A (p.Ala1740=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3347642	NM_021096.4(CACNA1I):c.2108C>G (p.Pro703Arg)	CACNA1I (P668R +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3344937	NM_021096.4(CACNA1I):c.6331C>G (p.Arg2111Gly)	CACNA1I (R2076G +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3344782	NM_021096.4(CACNA1I):c.82C>T (p.Pro28Ser)	CACNA1I (P28S)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3344749	NM_021096.4(CACNA1I):c.3614C>G (p.Thr1205Ser)	CACNA1I (T1170S +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3343378	NM_021096.4(CACNA1I):c.2734G>T (p.Gly912Trp)	CACNA1I (G877W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343373	NM_021096.4(CACNA1I):c.842A>T (p.His281Leu)	CACNA1I (H281L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341054	NM_021096.4(CACNA1I):c.3456C>G (p.Leu1152=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339103	NM_021096.4(CACNA1I):c.3070G>T (p.Glu1024Ter)	CACNA1I (E1024* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3337882	NM_021096.4(CACNA1I):c.3029A>G (p.Glu1010Gly)	CACNA1I (E1010G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336014	NM_021096.4(CACNA1I):c.1228C>T (p.Arg410Trp)	CACNA1I (R410W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262802	NM_021096.4(CACNA1I):c.6003G>T (p.Arg2001Ser)	CACNA1I (R2001S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3262801	NM_021096.4(CACNA1I):c.5841T>G (p.Ser1947Arg)	CACNA1I (S1947R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262799	NM_021096.4(CACNA1I):c.5514C>G (p.Cys1838Trp)	CACNA1I (C1838W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262798	NM_021096.4(CACNA1I):c.2488G>A (p.Gly830Ser)	CACNA1I (G830S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262797	NM_021096.4(CACNA1I):c.6044C>G (p.Thr2015Arg)	CACNA1I (T2015R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262796	NM_021096.4(CACNA1I):c.4249A>G (p.Ile1417Val)	CACNA1I (I1382V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262795	NM_021096.4(CACNA1I):c.5347G>A (p.Gly1783Ser)	CACNA1I (G1748S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262794	NM_021096.4(CACNA1I):c.6431C>T (p.Ala2144Val)	CACNA1I (A2109V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262793	NM_021096.4(CACNA1I):c.529A>G (p.Ile177Val)	CACNA1I (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262792	NM_021096.4(CACNA1I):c.3160C>T (p.Arg1054Cys)	CACNA1I (R1019C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262791	NM_021096.4(CACNA1I):c.5651G>A (p.Arg1884His)	CACNA1I (R1884H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262790	NM_021096.4(CACNA1I):c.3189C>G (p.Asp1063Glu)	CACNA1I (D1028E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262789	NM_021096.4(CACNA1I):c.3037G>A (p.Gly1013Ser)	CACNA1I (G1013S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262788	NM_021096.4(CACNA1I):c.913G>A (p.Ala305Thr)	CACNA1I (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262787	NM_021096.4(CACNA1I):c.1879C>T (p.Arg627Trp)	CACNA1I (R592W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262786	NM_021096.4(CACNA1I):c.4382G>A (p.Arg1461His)	CACNA1I (R1426H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262785	NM_021096.4(CACNA1I):c.1792G>A (p.Glu598Lys)	CACNA1I (E598K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252940	NM_021096.4(CACNA1I):c.6583C>T (p.Pro2195Ser)	CACNA1I (P2160S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252801	NM_021096.4(CACNA1I):c.1333A>G (p.Ile445Val)	CACNA1I (I445V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3239324	NM_021096.4(CACNA1I):c.292A>G (p.Met98Val)	CACNA1I (M98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234671	NM_021096.4(CACNA1I):c.2570del (p.Leu857fs)	CACNA1I (L822fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3234208	NM_021096.4(CACNA1I):c.3691G>A (p.Gly1231Ser)	CACNA1I (G1196S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3136443	NM_021096.4(CACNA1I):c.872G>A (p.Arg291His)	CACNA1I (R291H)	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 3136441	NM_021096.4(CACNA1I):c.68C>T (p.Thr23Met)	CACNA1I (T23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136440	NM_021096.4(CACNA1I):c.6563C>T (p.Pro2188Leu)	CACNA1I (P2188L +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3136421	NM_021096.4(CACNA1I):c.206G>A (p.Arg69Gln)	CACNA1I (R69Q)	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 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 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 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 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 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 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 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 3136412	NM_021096.4(CACNA1I):c.1453C>T (p.Arg485Trp)	CACNA1I (R485W)	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 3136410	NM_021096.4(CACNA1I):c.1364G>A (p.Gly455Asp)	CACNA1I (G455D)	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 3136408	NM_021096.4(CACNA1I):c.122C>A (p.Pro41His)	CACNA1I (P41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068749	NM_021096.4(CACNA1I):c.3406G>A (p.Val1136Ile)	CACNA1I (V1101I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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