ClinVar for Gene (Select 8911) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3067637	NM_021096.4(CACNA1I):c.3800T>A (p.Ile1267Asn)	CACNA1I (I1232N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067364	NM_021096.4(CACNA1I):c.327C>G (p.Ser109=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3060116	NM_021096.4(CACNA1I):c.99C>T (p.Ser33=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GBenign
Select item 3059427	NM_021096.4(CACNA1I):c.2859T>C (p.Ser953=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GBenign
Select item 3059171	NM_021096.4(CACNA1I):c.5344G>A (p.Gly1782Arg)	CACNA1I (G1747R +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GBenign
Select item 3058856	NM_021096.4(CACNA1I):c.3118A>G (p.Ile1040Val)	CACNA1I (I1005V +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GBenign
Select item 3055495	NM_021096.4(CACNA1I):c.20C>T (p.Pro7Leu)	CACNA1I (P7L)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GBenign
Select item 3055014	NM_021096.4(CACNA1I):c.3143A>G (p.His1048Arg)	CACNA1I (H1013R +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3054475	NM_021096.4(CACNA1I):c.2376G>A (p.Thr792=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3053551	NM_021096.4(CACNA1I):c.1463-3C>T	CACNA1I	Single nucleotide variant (intron variant)	CACNA1I-related disorder	GLikely benign
Select item 3050760	NM_021096.4(CACNA1I):c.763C>G (p.Pro255Ala)	CACNA1I (P255A)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3050629	NM_021096.4(CACNA1I):c.1416G>T (p.Pro472=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3050202	NM_021096.4(CACNA1I):c.2695G>A (p.Gly899Arg)	CACNA1I (G864R +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GBenign
Select item 3049959	NM_021096.4(CACNA1I):c.5475G>A (p.Ser1825=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3049035	NM_021096.4(CACNA1I):c.3086C>T (p.Ala1029Val)	CACNA1I (A1029V +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3048231	NM_021096.4(CACNA1I):c.4739A>G (p.Asn1580Ser)	CACNA1I (N1545S +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3047945	NM_021096.4(CACNA1I):c.5853G>A (p.Pro1951=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GBenign
Select item 3047003	NM_021096.4(CACNA1I):c.699C>T (p.Gly233=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3046971	NM_021096.4(CACNA1I):c.1993-6C>T	CACNA1I	Single nucleotide variant (intron variant)	CACNA1I-related disorder	GLikely benign
Select item 3046693	NM_021096.4(CACNA1I):c.1710C>T (p.Thr570=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3045400	NM_021096.4(CACNA1I):c.*6G>A	CACNA1I	Single nucleotide variant (3 prime UTR variant)	CACNA1I-related disorder	GLikely benign
Select item 3043370	NM_021096.4(CACNA1I):c.5220G>T (p.Ala1740=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3040784	NM_021096.4(CACNA1I):c.349-8C>T	CACNA1I	Single nucleotide variant (intron variant)	CACNA1I-related disorder	GLikely benign
Select item 3040258	NM_021096.4(CACNA1I):c.2628G>A (p.Ser876=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3039658	NM_021096.4(CACNA1I):c.1510C>T (p.Arg504Trp)	CACNA1I (R504W)	Single nucleotide variant (missense variant +1 more)	CACNA1I-related disorder	GLikely benign
Select item 3039285	NM_021096.4(CACNA1I):c.696G>A (p.Ala232=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3038737	NM_021096.4(CACNA1I):c.1545T>C (p.Pro515=)	CACNA1I	Single nucleotide variant (synonymous variant +1 more)	CACNA1I-related disorder	GLikely benign
Select item 3038539	NM_021096.4(CACNA1I):c.1287C>T (p.Ala429=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3038436	NM_021096.4(CACNA1I):c.6327G>A (p.Glu2109=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3037874	NM_021096.4(CACNA1I):c.6061C>T (p.Pro2021Ser)	CACNA1I (P1986S +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GLikely benign
Select item 3035803	NM_021096.4(CACNA1I):c.5493C>T (p.His1831=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GBenign
Select item 3035682	NM_021096.4(CACNA1I):c.3852-6C>T	CACNA1I	Single nucleotide variant (intron variant)	CACNA1I-related disorder	GBenign
Select item 3035266	NM_021096.4(CACNA1I):c.1057-8C>T	CACNA1I	Single nucleotide variant (intron variant)	CACNA1I-related disorder	GLikely benign
Select item 3034398	NM_021096.4(CACNA1I):c.1630G>A (p.Ala544Thr)	CACNA1I (A509T +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GLikely benign
Select item 3034304	NM_021096.4(CACNA1I):c.1902C>T (p.Arg634=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 3033771	NM_021096.4(CACNA1I):c.6118G>T (p.Asp2040Tyr)	CACNA1I (D2005Y +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GLikely benign
Select item 3033273	NM_021096.4(CACNA1I):c.3557C>A (p.Thr1186Asn)	CACNA1I (T1151N +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3032724	NM_021096.4(CACNA1I):c.2400C>A (p.Asp800Glu)	CACNA1I (D765E +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3030906	NM_021096.4(CACNA1I):c.3692G>C (p.Gly1231Ala)	CACNA1I (G1196A +1 more)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3027006	NM_021096.4(CACNA1I):c.3027G>C (p.Ala1009=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026442	NM_021096.4(CACNA1I):c.914C>T (p.Ala305Val)	CACNA1I (A305V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2688705	NM_021096.4(CACNA1I):c.3023C>T (p.Ser1008Phe)	CACNA1I (S1008F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and with or without seizures	GUncertain significance
Select item 2688704	NM_021096.4(CACNA1I):c.1306GAG[1] (p.Glu437del)	CACNA1I (E437del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with speech impairment and with or without seizures	GUncertain significance
Select item 2681692	NM_021096.4(CACNA1I):c.1314C>A (p.Ile438=)	CACNA1I	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672910	NM_021096.4(CACNA1I):c.905A>G (p.Asp302Gly)	CACNA1I (D302G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2665028	NM_021096.4(CACNA1I):c.2926G>C (p.Gly976Arg)	CACNA1I (G941R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and with or without seizures	GUncertain significance
Select item 2664762	NM_021096.4(CACNA1I):c.854C>T (p.Pro285Leu)	CACNA1I (P285L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and with or without seizures	GUncertain significance
Select item 2663734	NM_021096.4(CACNA1I):c.5536C>T (p.Gln1846Ter)	CACNA1I (Q1811* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2663676	NM_021096.4(CACNA1I):c.2531C>A (p.Ala844Asp)	CACNA1I (A809D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663349	NM_021096.4(CACNA1I):c.2893C>T (p.Arg965Cys)	CACNA1I (R930C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663206	NM_021096.4(CACNA1I):c.5624A>G (p.Glu1875Gly)	CACNA1I (E1840G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663086	NM_021096.4(CACNA1I):c.3095T>G (p.Leu1032Arg)	CACNA1I (L1032R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662858	NM_021096.4(CACNA1I):c.389T>G (p.Met130Arg)	CACNA1I (M130R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662720	NM_021096.4(CACNA1I):c.5119C>T (p.Pro1707Ser)	CACNA1I (P1672S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653165	NM_021096.4(CACNA1I):c.5970G>T (p.Leu1990=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653164	NM_021096.4(CACNA1I):c.5401C>A (p.Leu1801Met)	CACNA1I (L1766M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2653163	NM_021096.4(CACNA1I):c.5350G>A (p.Asp1784Asn)	CACNA1I (D1749N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653162	NM_021096.4(CACNA1I):c.5307G>A (p.Pro1769=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653161	NM_021096.4(CACNA1I):c.5229C>T (p.Asp1743=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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