C5574945[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 300920	NM_001161352.2(KCNMA1):c.*2373dup	KCNMA1	Duplication (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 879454	NM_001161352.2(KCNMA1):c.*2326C>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300921	NM_001161352.2(KCNMA1):c.*2325T>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300922	NM_001161352.2(KCNMA1):c.*2278G>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300923	NM_001161352.2(KCNMA1):c.*2226A>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300924	NM_001161352.2(KCNMA1):c.*2183C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 879815	NM_001161352.2(KCNMA1):c.*2138C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 300925	NM_001161352.2(KCNMA1):c.*2117G>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300926	NM_001161352.2(KCNMA1):c.*2015TA[7]	KCNMA1	Microsatellite (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300927	NM_001161352.2(KCNMA1):c.*1957C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GBenign
Select item 300928	NM_001161352.2(KCNMA1):c.*1937T>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300929	NM_001161352.2(KCNMA1):c.*1935A>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300930	NM_001161352.2(KCNMA1):c.*1887G>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300931	NM_001161352.2(KCNMA1):c.*1765T>C	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 300932	NM_001161352.2(KCNMA1):c.*1739G>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 877873	NM_001161352.2(KCNMA1):c.*1633C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300933	NM_001161352.2(KCNMA1):c.*1571C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GBenign
Select item 877874	NM_001161352.2(KCNMA1):c.*1529C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 877875	NM_001161352.2(KCNMA1):c.*1507G>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 877876	NM_001161352.2(KCNMA1):c.*1315C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 300934	NM_001161352.2(KCNMA1):c.*1288A>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 300935	NM_001161352.2(KCNMA1):c.*1284T>C	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300936	NM_001161352.2(KCNMA1):c.*1243T>C	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 300937	NM_001161352.2(KCNMA1):c.*1202C>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300938	NM_001161352.2(KCNMA1):c.*1165C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 878038	NM_001161352.2(KCNMA1):c.*1131C>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300939	NM_001161352.2(KCNMA1):c.*1100C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 300940	NM_001161352.2(KCNMA1):c.*1022TTTG[1]	KCNMA1	Microsatellite (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300941	NM_001161352.2(KCNMA1):c.*1025G>C	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300942	NM_001161352.2(KCNMA1):c.*1006G>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300943	NM_001161352.2(KCNMA1):c.*932G>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 879501	NM_001161352.2(KCNMA1):c.*862A>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300944	NM_001161352.2(KCNMA1):c.*834T>C	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300945	NM_001161352.2(KCNMA1):c.*690C>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 300946	NM_001161352.2(KCNMA1):c.*634C>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 300947	NM_001161352.2(KCNMA1):c.*570T>C	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300948	NM_001161352.2(KCNMA1):c.*539T>C	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300949	NM_001161352.2(KCNMA1):c.*531C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300950	NM_001161352.2(KCNMA1):c.*497A>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300951	NM_001161352.2(KCNMA1):c.*488C>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GBenign
Select item 300952	NM_001161352.2(KCNMA1):c.*429CTTT[2]	KCNMA1	Microsatellite (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300953	NM_001161352.2(KCNMA1):c.*411GTT[4]	KCNMA1	Microsatellite (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300954	NM_001161352.2(KCNMA1):c.*394C>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 300955	NM_001161352.2(KCNMA1):c.*321C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 300956	NM_001161352.2(KCNMA1):c.*223A>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 879867	NM_001161352.2(KCNMA1):c.*129T>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 879868	NM_001161352.2(KCNMA1):c.*115C>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300957	NM_001161352.2(KCNMA1):c.*113dup	KCNMA1	Duplication (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 879869	NM_001161352.2(KCNMA1):c.*69A>G	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 877922	NM_001161352.2(KCNMA1):c.*50C>T	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 877923	NM_001161352.2(KCNMA1):c.*21G>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300958	NM_001161352.2(KCNMA1):c.*15G>A	KCNMA1	Single nucleotide variant (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 848479	NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp)	KCNMA1 (R1117W +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +2 more	GUncertain significance
Select item 877924	NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 464299	NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser)	KCNMA1 (N1163S +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 726009	NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 848841	NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)	KCNMA1 (V1059M +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300959	NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 767171	NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 284179	NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 129326	NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 532955	NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878089	NM_001161352.2(KCNMA1):c.3147+15T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 878090	NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 806523	NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile)	KCNMA1, KCNMA1-AS1 (T943I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 733308	NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 129325	NM_001161352.2(KCNMA1):c.2710-8T>C	KCNMA1, KCNMA1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 288029	NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met)	KCNMA1, KCNMA1-AS1 (T834M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 195587	NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	KCNMA1-related condition +3 more	GBenign
Select item 464295	NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile)	KCNMA1, KCNMA1-AS1 (V792I +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +3 more	GLikely benign
Select item 287045	NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 129324	NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 879547	NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 623744	NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)	KCNMA1, KCNMA1-AS1 (D746Y +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129323	NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 300960	NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=)	KCNMA1, KCNMA1-AS1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 879911	NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala)	KCNMA1, KCNMA1-AS1 (E651A +6 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 129321	NM_001161352.2(KCNMA1):c.2015+7G>A	KCNMA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 300961	NM_001161352.2(KCNMA1):c.2015+5G>C	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 879912	NM_001161352.2(KCNMA1):c.1860-4G>T	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 300962	NM_001161352.2(KCNMA1):c.1749+11G>A	KCNMA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 16 +4 more	GBenign/Likely benign
Select item 647133	NM_001161352.2(KCNMA1):c.1749+6G>A	KCNMA1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877099	NM_001161352.2(KCNMA1):c.1593+11G>T	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 129319	NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=)	KCNMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 300963	NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 300964	NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr)	KCNMA1 (A496T +2 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300965	NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 289603	NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)	KCNMA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 771950	NM_001161352.2(KCNMA1):c.1227C>T (p.His409=)	KCNMA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 300966	NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 300967	NM_001161352.2(KCNMA1):c.1131+13C>A	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 300968	NM_001161352.2(KCNMA1):c.1131+11dup	KCNMA1	Duplication (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 464291	NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=)	KCNMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 300969	NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=)	KCNMA1	Single nucleotide variant (synonymous variant)	KCNMA1-related condition +2 more	GBenign/Likely benign
Select item 300970	NM_001161352.2(KCNMA1):c.884+15G>A	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 464305	NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=)	KCNMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129328	NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)	KCNMA1	Single nucleotide variant (synonymous variant)	Cerebellar atrophy, developmental delay, and seizures +4 more	GBenign
Select item 878135	NM_001161352.2(KCNMA1):c.602+12A>G	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 586096	NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=)	KCNMA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 252505	NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)	KCNMA1 (A138V)	Single nucleotide variant (missense variant +1 more)	KCNMA1-related condition +3 more	GConflicting classifications of pathogenicity

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