3778[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 1878557	NM_001322830.2(KCNMA1):c.3620A>G (p.Lys1207Arg)	KCNMA1 (K1021R +7 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2578617	NM_001322830.2(KCNMA1):c.3615-6C>A	KCNMA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 300920	NM_001161352.2(KCNMA1):c.*2373dup	KCNMA1	Duplication (3 prime UTR variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	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)	not provided +1 more	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 +1 more	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)	not provided +1 more	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 +1 more	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 772727	NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln)	KCNMA1 (R1177Q +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1392675	NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp)	KCNMA1 (R1218W +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 931931	NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys)	KCNMA1 (E1216K +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GConflicting classifications of pathogenicity
Select item 2115622	NM_001161352.2(KCNMA1):c.3693G>T (p.Val1231=)	KCNMA1	Single nucleotide variant (synonymous variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1538064	NM_001161352.2(KCNMA1):c.3690C>T (p.Tyr1230=)	KCNMA1	Single nucleotide variant (synonymous variant +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1010786	NM_001161352.2(KCNMA1):c.3690C>A (p.Tyr1230Ter)	KCNMA1 (Y1172* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 752600	NM_001161352.2(KCNMA1):c.3681A>G (p.Lys1227=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 971401	NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)	KCNMA1 (R1170Q +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	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 806521	NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro)	KCNMA1 (S1170P +9 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1203328	NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly)	KCNMA1 (R1013G +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 1015496	NM_001161352.2(KCNMA1):c.3661T>A (p.Ser1221Thr)	KCNMA1 (S1012T +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	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 1803624	NM_001161352.2(KCNMA1):c.3653G>T (p.Arg1218Leu)	KCNMA1 (R1009L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373537	NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln)	KCNMA1 (R1160Q +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 848222	NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp)	KCNMA1 (R1163W +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1955706	NM_001161352.2(KCNMA1):c.3651C>G (p.Asn1217Lys)	KCNMA1 (N1159K +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
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 1492579	NM_001161352.2(KCNMA1):c.3644G>A (p.Arg1215Gln)	KCNMA1 (R1157Q +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 954720	NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter)	KCNMA1 (R1107* +9 more)	Single nucleotide variant (nonsense)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 969813	NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser)	KCNMA1 (N1156S +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 1315401	NM_001161352.2(KCNMA1):c.3637G>A (p.Ala1213Thr)	KCNMA1 (A1004T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284021	NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile)	KCNMA1 (T1154I +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 2179323	NM_001161352.2(KCNMA1):c.3634A>G (p.Thr1212Ala)	KCNMA1 (T1003A +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 2090329	NM_001161352.2(KCNMA1):c.3633C>T (p.Ser1211=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1961914	NM_001161352.2(KCNMA1):c.3630A>G (p.Pro1210=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 784917	NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=)	KCNMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712234	NM_001161352.2(KCNMA1):c.3625A>G (p.Ile1209Val)	KCNMA1 (I1000V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044875	NM_001161352.2(KCNMA1):c.3623C>A (p.Ser1208Tyr)	KCNMA1 (S1150Y +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1089670	NM_001161352.2(KCNMA1):c.3621C>T (p.His1207=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 1327422	NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn)	KCNMA1 (H1099N +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1017052	NM_001161352.2(KCNMA1):c.3611C>T (p.Ser1204Phe)	KCNMA1 (S1096F +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2126000	NM_001161352.2(KCNMA1):c.3608G>T (p.Ser1203Ile)	KCNMA1 (S1179I +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2707961	NM_001161352.2(KCNMA1):c.3603G>A (p.Lys1201=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 2713071	NM_001161352.2(KCNMA1):c.3598A>T (p.Ser1200Cys)	KCNMA1 (S1145C +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1044508	NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly)	KCNMA1 (S1145G +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more	GUncertain significance
Select item 2016094	NM_001161352.2(KCNMA1):c.3590A>G (p.Gln1197Arg)	KCNMA1 (Q1142R +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2097189	NM_001161352.2(KCNMA1):c.3588G>T (p.Ser1196=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
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 3287703	NM_001161352.2(KCNMA1):c.3587C>G (p.Ser1196Trp)	KCNMA1 (S1142W +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2185509	NM_001161352.2(KCNMA1):c.3587C>T (p.Ser1196Leu)	KCNMA1 (S1142L +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 2864147	NM_001161352.2(KCNMA1):c.3585G>A (p.Ser1195=)	KCNMA1	Single nucleotide variant (synonymous variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GLikely benign
Select item 952252	NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu)	KCNMA1 (S1167L +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 647144	NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg)	KCNMA1 (H1170R +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance

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