"GeneDx"[submitter] AND "KCNJ5"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 878220	NM_000890.5(KCNJ5):c.-303C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 878221	NM_000890.5(KCNJ5):c.-301C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 878222	NM_000890.5(KCNJ5):c.-299C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 878223	NM_000890.5(KCNJ5):c.-297C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 1344982	NM_000890.5(KCNJ5):c.-293GA[5]	KCNJ5	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 303601	NM_000890.5(KCNJ5):c.-295C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GConflicting classifications of pathogenicity
Select item 303600	NM_000890.5(KCNJ5):c.-293GA[4]	KCNJ5	Microsatellite (5 prime UTR variant)	Familial hyperaldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 303599	NM_000890.5(KCNJ5):c.-293GA[3]	KCNJ5	Microsatellite (5 prime UTR variant)	Familial hyperaldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 1294837	NM_000890.5(KCNJ5):c.-293_-284del	KCNJ5	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 303602	NM_000890.5(KCNJ5):c.-293_-288del	KCNJ5	Deletion (5 prime UTR variant)	Familial hyperaldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 303610	NM_000890.5(KCNJ5):c.-293C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GConflicting classifications of pathogenicity
Select item 507020	NM_000890.5(KCNJ5):c.-11+14T>C	KCNJ5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1183781	NM_000890.5(KCNJ5):c.-11+59G>A	KCNJ5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189051	NM_000890.5(KCNJ5):c.-10-81C>T	KCNJ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 190824	NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn)	KCNJ5 (D4N)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1309764	NM_000890.5(KCNJ5):c.41_46del (p.Glu14_Ile15del)	KCNJ5	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1008531	NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile)	KCNJ5 (T18I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1942729	NM_000890.5(KCNJ5):c.61G>C (p.Asp21His)	KCNJ5 (D21H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372079	NM_000890.5(KCNJ5):c.74T>G (p.Ile25Ser)	KCNJ5 (I25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513817	NM_000890.5(KCNJ5):c.90C>T (p.Arg30=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 188315	NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys)	KCNJ5 (R41C)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GBenign/Likely benign
Select item 457005	NM_000890.5(KCNJ5):c.122G>A (p.Arg41His)	KCNJ5 (R41H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 190825	NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)	KCNJ5 (E45K)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1325992	NM_000890.5(KCNJ5):c.160A>C (p.Met54Leu)	KCNJ5 (M54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514769	NM_000890.5(KCNJ5):c.163G>A (p.Glu55Lys)	KCNJ5 (E55K)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 137990	NM_000890.5(KCNJ5):c.171T>C (p.Ser57=)	KCNJ5	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +6 more	GBenign
Select item 378008	NM_000890.5(KCNJ5):c.192C>T (p.His64=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1396809	NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys)	KCNJ5 (R87C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 303627	NM_000890.5(KCNJ5):c.273C>T (p.Leu91=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +6 more	GBenign/Likely benign
Select item 1040985	NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile)	KCNJ5 (V92I)	Single nucleotide variant (missense variant)	Long QT syndrome 13 +4 more	GUncertain significance
Select item 1001977	NM_000890.5(KCNJ5):c.295G>A (p.Val99Ile)	KCNJ5 (V99I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 700400	NM_000890.5(KCNJ5):c.312C>T (p.Phe104=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 190826	NM_000890.5(KCNJ5):c.314G>C (p.Gly105Ala)	KCNJ5 (G105A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 941414	NM_000890.5(KCNJ5):c.316T>C (p.Phe106Leu)	KCNJ5 (F106L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 190827	NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln)	KCNJ5 (R115Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1262285	NM_000890.5(KCNJ5):c.366C>T (p.Gly122=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 432222	NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)	KCNJ5 (E147K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 2782991	NM_000890.5(KCNJ5):c.449T>G (p.Ile150Ser)	KCNJ5 (I150S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 946292	NM_000890.5(KCNJ5):c.449T>C (p.Ile150Thr)	KCNJ5 (I150T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1194816	NM_000890.5(KCNJ5):c.506T>C (p.Leu169Ser)	KCNJ5 (L169S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450793	NM_000890.5(KCNJ5):c.518T>G (p.Ile173Ser)	KCNJ5 (I173S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 581128	NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser)	KCNJ5 (N179S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 572313	NM_000890.5(KCNJ5):c.554G>T (p.Cys185Phe)	KCNJ5 (C185F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 404092	NM_000890.5(KCNJ5):c.630G>A (p.Met210Ile)	KCNJ5 (M210I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2575556	NM_000890.5(KCNJ5):c.646T>C (p.Cys216Arg)	KCNJ5 (C216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429508	NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp)	KCNJ5 (G222D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1801934	NM_000890.5(KCNJ5):c.670C>G (p.Leu224Val)	KCNJ5 (L224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190829	NM_000890.5(KCNJ5):c.703C>T (p.Arg235Trp)	KCNJ5 (R235W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306130	NM_000890.5(KCNJ5):c.704G>A (p.Arg235Gln)	KCNJ5 (R235Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 671630	NM_000890.5(KCNJ5):c.723C>A (p.Ser241=)	KCNJ5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517972	NM_000890.5(KCNJ5):c.738G>A (p.Glu246=)	KCNJ5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 135677	NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)	KCNJ5 (G247R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303630	NM_000890.5(KCNJ5):c.744G>A (p.Glu248=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 963164	NM_000890.5(KCNJ5):c.748A>T (p.Ile250Phe)	KCNJ5 (I250F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 511356	NM_000890.5(KCNJ5):c.750C>T (p.Ile250=)	KCNJ5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1302912	NM_000890.5(KCNJ5):c.766G>A (p.Asp256Asn)	KCNJ5 (D256N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696054	NM_000890.5(KCNJ5):c.792C>T (p.Gly264=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 514661	NM_000890.5(KCNJ5):c.795C>T (p.Asp265=)	KCNJ5	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 137991	NM_000890.5(KCNJ5):c.810T>G (p.Leu270=)	KCNJ5	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +6 more	GBenign
Select item 219547	NM_000890.5(KCNJ5):c.825C>A (p.Ile275=)	KCNJ5	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 137992	NM_000890.5(KCNJ5):c.834T>C (p.His278=)	KCNJ5	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +6 more	GBenign
Select item 412767	NM_000890.5(KCNJ5):c.837G>A (p.Glu279=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 137993	NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu)	KCNJ5 (Q282E)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +6 more	GBenign
Select item 1309427	NM_000890.5(KCNJ5):c.854C>G (p.Pro285Arg)	KCNJ5 (P285R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137994	NM_000890.5(KCNJ5):c.937+7C>T	KCNJ5	Single nucleotide variant (intron variant)	Congenital long QT syndrome +4 more	GBenign
Select item 672206	NM_000890.5(KCNJ5):c.937+109G>A	KCNJ5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203113	NM_000890.5(KCNJ5):c.938-210TGGA[7]	KCNJ5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1240616	NM_000890.5(KCNJ5):c.938-166_938-165insGG	KCNJ5	Insertion (intron variant)	not provided	GBenign
Select item 1268032	NM_000890.5(KCNJ5):c.938-164GATG[13]	KCNJ5	Microsatellite (intron variant)	not provided	GBenign
Select item 1258330	NM_000890.5(KCNJ5):c.938-164GATG[10]	KCNJ5	Microsatellite (intron variant)	not provided	GBenign
Select item 1244563	NM_000890.5(KCNJ5):c.938-164GATG[12]	KCNJ5	Microsatellite (intron variant)	not provided	GBenign
Select item 1227908	NM_000890.5(KCNJ5):c.938-164GATG[11]	KCNJ5	Microsatellite (intron variant)	not provided	GBenign
Select item 1192836	NM_000890.5(KCNJ5):c.938-164GATG[14]	KCNJ5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 379743	NM_000890.5(KCNJ5):c.938-11C>T	KCNJ5	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GBenign
Select item 137995	NM_000890.5(KCNJ5):c.938-10G>A	KCNJ5	Single nucleotide variant (intron variant)	Congenital long QT syndrome +5 more	GBenign
Select item 1326808	NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp)	KCNJ5 (R319W)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +3 more	GUncertain significance
Select item 215479	NM_000890.5(KCNJ5):c.957G>A (p.Arg319=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 513442	NM_000890.5(KCNJ5):c.990C>A (p.Gly330=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 681769	NM_000890.5(KCNJ5):c.1032T>C (p.Tyr344=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 423691	NM_000890.5(KCNJ5):c.1121G>T (p.Gly374Val)	KCNJ5 (G374V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1060449	NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp)	KCNJ5 (R375W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 516126	NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=)	KCNJ5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1306167	NM_000890.5(KCNJ5):c.1151C>T (p.Pro384Leu)	KCNJ5 (P384L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507821	NM_000890.5(KCNJ5):c.1152A>G (p.Pro384=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 680450	NM_000890.5(KCNJ5):c.1158G>C (p.Leu386=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 457004	NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly)	KCNJ5 (E397G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303634	NM_000890.5(KCNJ5):c.*34G>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign/Likely benign
Select item 303647	NM_000890.5(KCNJ5):c.*759C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GBenign/Likely benign
Select item 303648	NM_000890.5(KCNJ5):c.*779G>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign
Select item 303649	NM_000890.5(KCNJ5):c.*804G>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign
Select item 1326094	NM_000890.5(KCNJ5):c.*861GTTTT[6]	KCNJ5	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 303651	NM_000890.5(KCNJ5):c.*861GTTTT[7]	KCNJ5	Microsatellite (3 prime UTR variant)	not provided +2 more	GBenign
Select item 303650	NM_000890.5(KCNJ5):c.*861GTTTT[8]	KCNJ5	Microsatellite (3 prime UTR variant)	Familial hyperaldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 303652	NM_000890.5(KCNJ5):c.*928C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign
Select item 303654	NM_000890.5(KCNJ5):c.*936C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GBenign/Likely benign
Select item 303656	NM_000890.5(KCNJ5):c.*976G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign
Select item 303660	NM_000890.5(KCNJ5):c.*1063G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 303661	NM_000890.5(KCNJ5):c.*1091G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GBenign/Likely benign

<< First< Prev

Page of 2