C1832884[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1012929	NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)	CACNA1A (G2481R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GUncertain significance
Select item 1256312	NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)	CACNA1A (A2443V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1207373	NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)	CACNA1A (P2421L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Episodic ataxia type 2 +4 more	GLikely benign
Select item 1285153	NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 235603	NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1295862	NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)	CACNA1A, LOC108663985 (Q2325del +1 more)	Microsatellite (3 prime UTR variant +1 more)	Episodic ataxia type 2 +4 more	GBenign
Select item 1249720	NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +4 more	GBenign
Select item 93562	NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +6 more	GBenign/Likely benign
Select item 1039348	NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)	CACNA1A (H2218P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +5 more	GUncertain significance
Select item 383881	NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)	CACNA1A (K2204R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +4 more	GUncertain significance
Select item 380806	NM_001127222.2(CACNA1A):c.6527-16C>T	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GLikely benign
Select item 421988	NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)	CACNA1A (R2170C +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +5 more	GConflicting classifications of pathogenicity
Select item 421928	NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)	CACNA1A (R2157C +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +5 more	GConflicting classifications of pathogenicity
Select item 446939	NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)	CACNA1A (P2145L +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 128558	NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 128557	NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 386521	NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)	CACNA1A (T2043M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +18 more	GConflicting classifications of pathogenicity
Select item 426764	NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)	CACNA1A (E2022K +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +5 more	GBenign/Likely benign
Select item 426309	NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)	CACNA1A (M1961I +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +4 more	GUncertain significance
Select item 382883	NM_001127222.2(CACNA1A):c.5067+20G>A	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +4 more	GBenign/Likely benign
Select item 542832	NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)	CACNA1A (R1558H +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GUncertain significance
Select item 8507	NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	CACNA1A (R1549* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 42 +5 more	GPathogenic/Likely pathogenic
Select item 380972	NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	CACNA1A (R1349Q +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +6 more	GPathogenic/Likely pathogenic
Select item 380771	NM_001127222.2(CACNA1A):c.3989+16A>G	CACNA1A, LOC126862865	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GBenign/Likely benign
Select item 432567	NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)	CACNA1A (D1213Y +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 195573	NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)	CACNA1A (K1203del +2 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 42 +6 more	GBenign/Likely benign
Select item 430288	NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)	CACNA1A (P1138R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1016912	NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)	CACNA1A (G1135S +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 68428	NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)	CACNA1A (G1105S +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 1391549	NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)	CACNA1A (G998E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +3 more	GUncertain significance
Select item 1460493	NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)	CACNA1A (G1002R +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 453002	NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)	CACNA1A (R976L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 446913	NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser)	CACNA1A (P965S +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 423150	NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)	CACNA1A (R803S +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +5 more	GConflicting classifications of pathogenicity
Select item 254268	NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	CACNA1A (A713T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +7 more	GPathogenic/Likely pathogenic
Select item 451872	NM_001127222.2(CACNA1A):c.2105-15C>T	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GConflicting classifications of pathogenicity
Select item 446904	NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 934341	NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)	CACNA1A (E512K +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GConflicting classifications of pathogenicity
Select item 257508	NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 68420	NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	CACNA1A (A454T +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 847841	NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys)	CACNA1A (E436K +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +4 more	GUncertain significance
Select item 515030	NM_001127222.2(CACNA1A):c.1199-17G>C	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +4 more	GBenign/Likely benign
Select item 286277	NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)	CACNA1A (N390K)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +4 more	GUncertain significance
Select item 774390	NM_001127222.2(CACNA1A):c.979-10C>A	CACNA1A, LOC126862866	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1447682	NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)	CACNA1A (N283S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +5 more	GConflicting classifications of pathogenicity
Select item 210556	NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)	CACNA1A (R198Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +5 more	GConflicting classifications of pathogenicity
Select item 1345878	NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)	CACNA1A (A44T)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity

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Items: 47