"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CACNA1H"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 587

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1107712	NM_021098.3(CACNA1H):c.21C>T (p.Ala7=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 1475245	NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu)	CACNA1H (P14L)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 779734	NM_021098.3(CACNA1H):c.43C>T (p.Leu15=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 804677	NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe)	CACNA1H (S29F)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 1430418	NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp)	CACNA1H (G34W)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 751767	NM_021098.3(CACNA1H):c.138C>T (p.Leu46=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +3 more	GLikely benign
Select item 529580	NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)	CACNA1H (E57D)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +4 more	GConflicting classifications of pathogenicity
Select item 1351527	NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys)	CACNA1H (G59C)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 978518	NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg)	CACNA1H (P71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1426485	NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met)	CACNA1H (T78M)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GUncertain significance
Select item 935447	NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del)	CACNA1H (F81del)	Microsatellite (inframe_deletion)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GUncertain significance
Select item 460071	NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 766979	NM_021098.3(CACNA1H):c.273C>T (p.Ser91=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 1596607	NM_021098.3(CACNA1H):c.282C>T (p.Leu94=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1346665	NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu)	CACNA1H (P100L)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GUncertain significance
Select item 1572315	NM_021098.3(CACNA1H):c.299+14_299+15inv	CACNA1H	Inversion (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1660261	NM_021098.3(CACNA1H):c.299+15C>G	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +3 more	GBenign/Likely benign
Select item 1545572	NM_021098.3(CACNA1H):c.299+20G>T	CACNA1H	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1586661	NM_021098.3(CACNA1H):c.300-5G>A	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1039432	NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys)	CACNA1H (E103K)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GUncertain significance
Select item 1121981	NM_021098.3(CACNA1H):c.312C>T (p.His104=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 579665	NM_021098.3(CACNA1H):c.313G>A (p.Val105Met)	CACNA1H (V105M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1499239	NM_021098.3(CACNA1H):c.343G>A (p.Val115Met)	CACNA1H (V115M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 650870	NM_021098.3(CACNA1H):c.355A>G (p.Met119Val)	CACNA1H (M119V)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 966445	NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln)	CACNA1H (R121Q)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GConflicting classifications of pathogenicity
Select item 662245	NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile)	CACNA1H (V126I)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 390475	NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter)	CACNA1H (E127*)	Single nucleotide variant (nonsense)	Epilepsy, childhood absence, susceptibility to, 6 +3 more	GUncertain significance
Select item 1011552	NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys)	CACNA1H (E131K)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 947091	NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile)	CACNA1H (V152I)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1444560	NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu)	CACNA1H (F161L)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 835015	NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile)	CACNA1H (V179I)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +3 more	GConflicting classifications of pathogenicity
Select item 1120714	NM_021098.3(CACNA1H):c.537C>T (p.Val179=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 1123992	NM_021098.3(CACNA1H):c.545+10G>T	CACNA1H	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GLikely benign
Select item 767084	NM_021098.3(CACNA1H):c.555G>A (p.Glu185=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 730761	NM_021098.3(CACNA1H):c.576C>T (p.Asn192=)	CACNA1H	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GLikely benign
Select item 1319048	NM_021098.3(CACNA1H):c.577G>A (p.Val193Met)	CACNA1H (V193M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 766940	NM_021098.3(CACNA1H):c.624C>T (p.Arg208=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1359013	NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr)	CACNA1H (A209T)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1447412	NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys)	CACNA1H (R212C)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 1433795	NM_021098.3(CACNA1H):c.637G>A (p.Val213Met)	CACNA1H (V213M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 1572770	NM_021098.3(CACNA1H):c.643+11G>A	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GBenign/Likely benign
Select item 1632393	NM_021098.3(CACNA1H):c.643+13C>A	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 753806	NM_021098.3(CACNA1H):c.644-7C>T	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1094387	NM_021098.3(CACNA1H):c.663T>A (p.Thr221=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 729816	NM_021098.3(CACNA1H):c.699C>T (p.Val233=)	CACNA1H	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GLikely benign
Select item 722884	NM_021098.3(CACNA1H):c.706C>T (p.Leu236=)	CACNA1H	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GLikely benign
Select item 1375863	NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg)	CACNA1H (L255R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 460188	NM_021098.3(CACNA1H):c.801C>T (p.Val267=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1165292	NM_021098.3(CACNA1H):c.804-8A>G	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GBenign/Likely benign
Select item 1348396	NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser)	CACNA1H (N269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 460191	NM_021098.3(CACNA1H):c.819C>T (p.Thr273=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1602000	NM_021098.3(CACNA1H):c.822C>T (p.Phe274=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 754218	NM_021098.3(CACNA1H):c.825G>A (p.Leu275=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 279725	NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)	CACNA1H (P277L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1522971	NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met)	CACNA1H (T281M)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GConflicting classifications of pathogenicity
Select item 1665190	NM_021098.3(CACNA1H):c.843G>A (p.Thr281=)	CACNA1H	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GLikely benign
Select item 577251	NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys)	CACNA1H (E285K)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 1589698	NM_021098.3(CACNA1H):c.864G>A (p.Pro288=)	CACNA1H	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GLikely benign
Select item 955647	NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)	CACNA1H (R295Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 460193	NM_021098.3(CACNA1H):c.888C>T (p.Asp296=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GBenign/Likely benign
Select item 1492714	NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg)	CACNA1H (Q300R)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GUncertain significance
Select item 529568	NM_021098.3(CACNA1H):c.912C>G (p.His304Gln)	CACNA1H (H304Q)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 715075	NM_021098.3(CACNA1H):c.915C>T (p.Ile305=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 774386	NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +3 more	GBenign/Likely benign
Select item 1051672	NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser)	CACNA1H (G307S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 581508	NM_021098.3(CACNA1H):c.927C>T (p.Arg309=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GConflicting classifications of pathogenicity
Select item 933997	NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys)	CACNA1H (E310K)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 1388537	NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys)	CACNA1H (E320K)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 529640	NM_021098.3(CACNA1H):c.993C>A (p.Gly331=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +3 more	GBenign/Likely benign
Select item 740201	NM_021098.3(CACNA1H):c.999A>G (p.Ala333=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GBenign/Likely benign
Select item 1051387	NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys)	CACNA1H (R334C)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 733081	NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 460036	NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1593830	NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 529634	NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 529669	NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 648704	NM_021098.3(CACNA1H):c.1119+6C>T	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 460040	NM_021098.3(CACNA1H):c.1120-8C>T	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +3 more	GBenign/Likely benign
Select item 720623	NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 1402092	NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile)	CACNA1H (V387I)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GConflicting classifications of pathogenicity
Select item 1170589	NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=)	CACNA1H	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GBenign/Likely benign
Select item 761136	NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 1662765	NM_021098.3(CACNA1H):c.1212+18T>C	CACNA1H	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GBenign/Likely benign
Select item 1575448	NM_021098.3(CACNA1H):c.1213-18C>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +2 more	GBenign/Likely benign
Select item 970380	NM_021098.3(CACNA1H):c.1213-10C>G	CACNA1H	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 529675	NM_021098.3(CACNA1H):c.1213-7G>A	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +2 more	GBenign/Likely benign
Select item 1085439	NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 1342369	NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser)	CACNA1H (F408S)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GConflicting classifications of pathogenicity
Select item 460041	NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1083821	NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 1168420	NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=)	CACNA1H	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GBenign/Likely benign
Select item 1691576	NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met)	CACNA1H (T425M)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GUncertain significance
Select item 659136	NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp)	CACNA1H (R428W)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GConflicting classifications of pathogenicity
Select item 804673	NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)	CACNA1H (R437W)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +4 more	GConflicting classifications of pathogenicity
Select item 944008	NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys)	CACNA1H (R439C)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 659654	NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)	CACNA1H (R439H)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +2 more	GConflicting classifications of pathogenicity
Select item 1660938	NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 1488459	NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly)	CACNA1H (A448G)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GUncertain significance
Select item 460042	NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 529671	NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GBenign/Likely benign

<< First< Prev

Page of 6