CACNA1E[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 1300821	NC_000001.11:g.181483210G>C	CACNA1E	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1273449	NC_000001.11:g.181483216_181483219del	CACNA1E	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 1300917	NC_000001.11:g.181483467C>T	CACNA1E	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1301079	NC_000001.11:g.181483513_181483515dup	CACNA1E	Duplication (genic upstream transcript variant)	not provided	GLikely benign
Select item 1300505	NC_000001.11:g.181483515dup	CACNA1E	Duplication (genic upstream transcript variant)	not provided	GLikely benign
Select item 1320658	NC_000001.11:g.181483515del	CACNA1E	Deletion (genic upstream transcript variant)	not provided	GLikely benign
Select item 1300371	NC_000001.11:g.181483507T>C	CACNA1E	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1238863	NC_000001.11:g.181483508_181483509insCT	CACNA1E	Insertion (genic upstream transcript variant)	not provided	GBenign
Select item 2639607	NM_001205293.3(CACNA1E):c.7C>T (p.Arg3Cys)	CACNA1E (R3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087018	NM_001205293.3(CACNA1E):c.12C>G (p.Phe4Leu)	CACNA1E (F4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805324	NM_001205293.3(CACNA1E):c.14G>A (p.Gly5Glu)	CACNA1E (G5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606362	NM_001205293.3(CACNA1E):c.28G>T (p.Ala10Ser)	CACNA1E (A10S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1184339	NM_001205293.3(CACNA1E):c.32G>T (p.Arg11Met)	CACNA1E (R11M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2172475	NM_001205293.3(CACNA1E):c.33G>A (p.Arg11=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536733	NM_001205293.3(CACNA1E):c.36A>G (p.Pro12=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643757	NM_001205293.3(CACNA1E):c.39G>A (p.Gly13=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401729	NM_001205293.3(CACNA1E):c.43G>A (p.Gly15Ser)	CACNA1E (G15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708857	NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu)	CACNA1E (G17E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1720573	NM_001205293.3(CACNA1E):c.53A>G (p.Asp18Gly)	CACNA1E (D18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578107	NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu)	CACNA1E (S19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1306146	NM_001205293.3(CACNA1E):c.56C>G (p.Ser19Trp)	CACNA1E (S19W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 767734	NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2727967	NM_001205293.3(CACNA1E):c.60C>A (p.Asp20Glu)	CACNA1E (D20E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623061	NM_001205293.3(CACNA1E):c.69G>A (p.Arg23=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543584	NM_001205293.3(CACNA1E):c.75G>T (p.Arg25=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2973398	NM_001205293.3(CACNA1E):c.83C>T (p.Thr28Ile)	CACNA1E (T28I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973708	NM_001205293.3(CACNA1E):c.87C>T (p.Pro29=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656929	NM_001205293.3(CACNA1E):c.87C>G (p.Pro29=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720201	NM_001205293.3(CACNA1E):c.88G>T (p.Val30Leu)	CACNA1E (V30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444133	NM_001205293.3(CACNA1E):c.92C>T (p.Pro31Leu)	CACNA1E (P31L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2804707	NM_001205293.3(CACNA1E):c.93G>A (p.Pro31=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794709	NM_001205293.3(CACNA1E):c.98C>T (p.Ser33Leu)	CACNA1E (S33L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1428382	NM_001205293.3(CACNA1E):c.99G>A (p.Ser33=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314207	NM_001205293.3(CACNA1E):c.101G>C (p.Gly34Ala)	CACNA1E (G34A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534871	NM_001205293.3(CACNA1E):c.102G>A (p.Gly34=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802021	NM_001205293.3(CACNA1E):c.104A>G (p.Gln35Arg)	CACNA1E (Q35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1630449	NM_001205293.3(CACNA1E):c.108G>A (p.Ala36=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136329	NM_001205293.3(CACNA1E):c.112G>A (p.Ala38Thr)	CACNA1E (A38T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1485558	NM_001205293.3(CACNA1E):c.113C>T (p.Ala38Val)	CACNA1E (A38V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1917784	NM_001205293.3(CACNA1E):c.114C>T (p.Ala38=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987602	NM_001205293.3(CACNA1E):c.117C>T (p.Tyr39=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519579	NM_001205293.3(CACNA1E):c.122A>C (p.Gln41Pro)	CACNA1E (Q41P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648956	NM_001205293.3(CACNA1E):c.126G>A (p.Thr42=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820136	NM_001205293.3(CACNA1E):c.140C>T (p.Ala47Val)	CACNA1E (A47V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538734	NM_001205293.3(CACNA1E):c.141G>T (p.Ala47=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099992	NM_001205293.3(CACNA1E):c.143G>A (p.Arg48Gln)	CACNA1E (R48Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2572927	NM_001205293.3(CACNA1E):c.148A>G (p.Met50Val)	CACNA1E (M50V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678453	NM_001205293.3(CACNA1E):c.156G>C (p.Leu52Phe)	CACNA1E (L52F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1926074	NM_001205293.3(CACNA1E):c.158A>T (p.Tyr53Phe)	CACNA1E (Y53F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506803	NM_001205293.3(CACNA1E):c.164C>G (p.Pro55Arg)	CACNA1E (P55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012108	NM_001205293.3(CACNA1E):c.165C>A (p.Pro55=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440895	NM_001205293.3(CACNA1E):c.166A>G (p.Ile56Val)	CACNA1E (I56V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660909	NM_001205293.3(CACNA1E):c.167T>C (p.Ile56Thr)	CACNA1E (I56T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2082591	NM_001205293.3(CACNA1E):c.170C>T (p.Pro57Leu)	CACNA1E (P57L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1961483	NM_001205293.3(CACNA1E):c.171C>T (p.Pro57=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827842	NM_001205293.3(CACNA1E):c.176G>T (p.Arg59Leu)	CACNA1E (R59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482994	NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln)	CACNA1E (R59Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GConflicting classifications of pathogenicity
Select item 1354247	NM_001205293.3(CACNA1E):c.180G>T (p.Gln60His)	CACNA1E (Q60H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599576	NM_001205293.3(CACNA1E):c.183C>T (p.Asn61=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2012532	NM_001205293.3(CACNA1E):c.187T>C (p.Phe63Leu)	CACNA1E (F63L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2096779	NM_001205293.3(CACNA1E):c.188T>G (p.Phe63Cys)	CACNA1E (F63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629096	NM_001205293.3(CACNA1E):c.192C>G (p.Thr64=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652757	NM_001205293.3(CACNA1E):c.195C>G (p.Val65=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852098	NM_001205293.3(CACNA1E):c.196A>G (p.Asn66Asp)	CACNA1E (N66D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721178	NM_001205293.3(CACNA1E):c.196A>T (p.Asn66Tyr)	CACNA1E (N66Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970081	NM_001205293.3(CACNA1E):c.197A>G (p.Asn66Ser)	CACNA1E (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658027	NM_001205293.3(CACNA1E):c.204C>T (p.Ser68=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571454	NM_001205293.3(CACNA1E):c.207G>C (p.Leu69=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1419761	NM_001205293.3(CACNA1E):c.208T>C (p.Phe70Leu)	CACNA1E (F70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713603	NM_001205293.3(CACNA1E):c.216C>G (p.Phe72Leu)	CACNA1E (F72L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384428	NM_001205293.3(CACNA1E):c.218G>A (p.Gly73Glu)	CACNA1E (G73E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2099829	NM_001205293.3(CACNA1E):c.220G>A (p.Glu74Lys)	CACNA1E (E74K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066842	NM_001205293.3(CACNA1E):c.229A>G (p.Ile77Val)	CACNA1E (I77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439661	NM_001205293.3(CACNA1E):c.231T>G (p.Ile77Met)	CACNA1E (I77M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1496612	NM_001205293.3(CACNA1E):c.232G>C (p.Val78Leu)	CACNA1E (V78L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496889	NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His)	CACNA1E (Y81H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1331279	NM_001205293.3(CACNA1E):c.246C>G (p.Ala82=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GLikely benign
Select item 1604033	NM_001205293.3(CACNA1E):c.261T>C (p.Asp87=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663486	NM_001205293.3(CACNA1E):c.264G>T (p.Trp88Cys)	CACNA1E (W88C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306062	NM_001205293.3(CACNA1E):c.265C>T (p.Pro89Ser)	CACNA1E (P89S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970110	NM_001205293.3(CACNA1E):c.266+11T>C	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539052	NM_001205293.3(CACNA1E):c.266+16C>T	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949994	NM_001205293.3(CACNA1E):c.266+19C>T	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970111	NM_001205293.3(CACNA1E):c.266+20A>G	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300515	NM_001205293.3(CACNA1E):c.267-125A>C	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1522147	NM_001205293.3(CACNA1E):c.267-18T>G	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095616	NM_001205293.3(CACNA1E):c.267-16A>C	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021967	NM_001205293.3(CACNA1E):c.267-11C>T	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985872	NM_001205293.3(CACNA1E):c.267-10G>A	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633085	NM_001205293.3(CACNA1E):c.267-10G>T	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560903	NM_001205293.3(CACNA1E):c.267-7T>A	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549815	NM_001205293.3(CACNA1E):c.267-6T>G	CACNA1E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304201	NM_001205293.3(CACNA1E):c.267-1C>T	CACNA1E	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2610989	NM_001205293.3(CACNA1E):c.278A>G (p.Tyr93Cys)	CACNA1E (Y93C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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