CACNA1I[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
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 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 3344782	NM_021096.4(CACNA1I):c.82C>T (p.Pro28Ser)	CACNA1I (P28S)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 3060116	NM_021096.4(CACNA1I):c.99C>T (p.Ser33=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GBenign
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 3239324	NM_021096.4(CACNA1I):c.292A>G (p.Met98Val)	CACNA1I (M98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082595	NM_021096.4(CACNA1I):c.309C>G (p.Asp103Glu)	CACNA1I (D103E)	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 3040784	NM_021096.4(CACNA1I):c.349-8C>T	CACNA1I	Single nucleotide variant (intron variant)	CACNA1I-related disorder	GLikely benign
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 1310307	NM_021096.4(CACNA1I):c.470T>A (p.Ile157Asn)	CACNA1I (I157N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716254	NM_021096.4(CACNA1I):c.489C>T (p.Val163=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3262793	NM_021096.4(CACNA1I):c.529A>G (p.Ile177Val)	CACNA1I (I177V)	Single nucleotide variant (missense variant)	not specified	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 1301215	NM_021096.4(CACNA1I):c.580+4A>G	CACNA1I	Single nucleotide variant (intron variant)	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 3039285	NM_021096.4(CACNA1I):c.696G>A (p.Ala232=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
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 1699635	NM_021096.4(CACNA1I):c.720C>G (p.Phe240Leu)	CACNA1I (F240L)	Single nucleotide variant (missense variant)	not provided	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 1077145	NM_021096.4(CACNA1I):c.725A>C (p.Glu242Ala)	CACNA1I (E242A)	Single nucleotide variant (missense variant)	Ventriculomegaly +1 more	GUncertain significance
Select item 2429399	NM_021096.4(CACNA1I):c.739A>G (p.Ile247Val)	CACNA1I (I247V)	Single nucleotide variant (missense variant)	not provided	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 3050760	NM_021096.4(CACNA1I):c.763C>G (p.Pro255Ala)	CACNA1I (P255A)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 777740	NM_021096.4(CACNA1I):c.777G>A (p.Pro259=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 717747	NM_021096.4(CACNA1I):c.819C>T (p.Gly273=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3343373	NM_021096.4(CACNA1I):c.842A>T (p.His281Leu)	CACNA1I (H281L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378037	NM_021096.4(CACNA1I):c.845A>G (p.Glu282Gly)	CACNA1I (E282G)	Single nucleotide variant (missense variant)	not provided	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 3136443	NM_021096.4(CACNA1I):c.872G>A (p.Arg291His)	CACNA1I (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653150	NM_021096.4(CACNA1I):c.897C>T (p.Asp299=)	CACNA1I	Single nucleotide variant (synonymous 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 2672910	NM_021096.4(CACNA1I):c.905A>G (p.Asp302Gly)	CACNA1I (D302G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3026442	NM_021096.4(CACNA1I):c.914C>T (p.Ala305Val)	CACNA1I (A305V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2653151	NM_021096.4(CACNA1I):c.920G>A (p.Arg307His)	CACNA1I (R307H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3371619	NM_021096.4(CACNA1I):c.962G>T (p.Arg321Leu)	CACNA1I (R321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697012	NM_021096.4(CACNA1I):c.968A>T (p.Tyr323Phe)	CACNA1I (Y323F)	Single nucleotide variant (missense variant)	not provided	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 3364300	NM_021096.4(CACNA1I):c.1000del (p.His334fs)	CACNA1I (H334fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2630778	NM_021096.4(CACNA1I):c.1022ACA[1] (p.Asn342del)	CACNA1I (N342del)	Microsatellite (inframe_deletion)	CACNA1I-related disorder	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 3035266	NM_021096.4(CACNA1I):c.1057-8C>T	CACNA1I	Single nucleotide variant (intron variant)	CACNA1I-related disorder	GLikely benign
Select item 2573900	NM_021096.4(CACNA1I):c.1088T>A (p.Met363Lys)	CACNA1I (M363K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309368	NM_021096.4(CACNA1I):c.1171A>G (p.Asn391Asp)	CACNA1I (N391D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174081	NM_021096.4(CACNA1I):c.1184T>A (p.Val395Asp)	CACNA1I (V395D)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
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 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 3038539	NM_021096.4(CACNA1I):c.1287C>T (p.Ala429=)	CACNA1I	Single nucleotide variant (synonymous variant)	CACNA1I-related disorder	GLikely benign
Select item 2636414	NM_021096.4(CACNA1I):c.1291C>T (p.Pro431Ser)	CACNA1I (P431S)	Single nucleotide variant (missense variant)	CACNA1I-related disorder	GUncertain significance
Select item 2653152	NM_021096.4(CACNA1I):c.1296C>T (p.Gly432=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2338858	NM_021096.4(CACNA1I):c.1311G>C (p.Glu437Asp)	CACNA1I (E437D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653153	NM_021096.4(CACNA1I):c.1313T>C (p.Ile438Thr)	CACNA1I (I438T)	Single nucleotide variant (missense variant)	not provided	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 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 2653154	NM_021096.4(CACNA1I):c.1323T>C (p.Tyr441=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3366081	NM_021096.4(CACNA1I):c.1408G>T (p.Glu470Ter)	CACNA1I (E470*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3050629	NM_021096.4(CACNA1I):c.1416G>T (p.Pro472=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1984073	NM_021096.4(CACNA1I):c.1423G>A (p.Ala475Thr)	CACNA1I (A475T)	Single nucleotide variant (missense variant)	not provided	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 3053551	NM_021096.4(CACNA1I):c.1463-3C>T	CACNA1I	Single nucleotide variant (intron variant)	CACNA1I-related disorder	GLikely benign
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 716652	NM_021096.4(CACNA1I):c.1503C>T (p.Leu501=)	CACNA1I	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 777741	NM_021096.4(CACNA1I):c.1599G>A (p.Ala533=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 1699799	NM_021096.4(CACNA1I):c.1616T>C (p.Val539Ala)	CACNA1I (V504A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2499209	NM_021096.4(CACNA1I):c.1634C>G (p.Thr545Arg)	CACNA1I (T510R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932720	NM_021096.4(CACNA1I):c.1635G>A (p.Thr545=)	CACNA1I	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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