ClinVar for MedGen (Select 824604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1677568	NM_000890.5(KCNJ5):c.835G>A (p.Glu279Lys)	KCNJ5 (E279K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1587793	NM_000890.5(KCNJ5):c.906G>T (p.Val302=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1549700	NM_000890.5(KCNJ5):c.938-11_938-10delinsTA	KCNJ5	Indel (intron variant)	Familial hyperaldosteronism type III +2 more	GLikely benign
Select item 1496865	NM_000890.5(KCNJ5):c.149G>A (p.Arg50His)	KCNJ5 (R50H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1476591	NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn)	KCNJ5 (S75N)	Single nucleotide variant (missense variant)	Long QT syndrome 13 +3 more	GUncertain significance
Select item 1396809	NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys)	KCNJ5 (R87C)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +4 more	GUncertain significance
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 1130745	NM_000890.5(KCNJ5):c.618A>G (p.Ala206=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1130667	NM_000890.5(KCNJ5):c.810T>C (p.Leu270=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1094016	NM_000890.5(KCNJ5):c.351C>T (p.Asp117=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1058806	NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp)	KCNJ5 (R211W)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 1054696	NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter)	KCNJ5 (R332*)	Single nucleotide variant (nonsense)	Long QT syndrome +2 more	GUncertain significance
Select item 1050347	NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser)	KCNJ5 (R416S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1045677	NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile)	KCNJ5 (V178I)	Single nucleotide variant (missense variant)	Long QT syndrome 13 +2 more	GUncertain significance
Select item 1040985	NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile)	KCNJ5 (V92I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1014195	NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys)	KCNJ5 (R50C)	Single nucleotide variant (missense variant)	Long QT syndrome 13 +4 more	GUncertain significance
Select item 1010966	NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met)	KCNJ5 (T40M)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 941579	NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)	KCNJ5 (R72W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 931771	NM_000890.5(KCNJ5):c.-9A>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 880107	NM_000890.5(KCNJ5):c.*284G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 880106	NM_000890.5(KCNJ5):c.*191C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 880039	NM_000890.5(KCNJ5):c.435G>A (p.Glu145=)	KCNJ5	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 880038	NM_000890.5(KCNJ5):c.-35G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 880037	NM_000890.5(KCNJ5):c.-145C>T	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 879673	NM_000890.5(KCNJ5):c.-213G>A	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 879672	NM_000890.5(KCNJ5):c.-277G>A	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GBenign
Select item 879671	NM_000890.5(KCNJ5):c.-291C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 13 +1 more	GUncertain significance
Select item 878929	NM_000890.5(KCNJ5):c.*1090C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 878287	NM_000890.5(KCNJ5):c.956G>A (p.Arg319Gln)	KCNJ5 (R319Q)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III	GUncertain significance
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 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 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 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 878219	NM_000890.5(KCNJ5):c.-305C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 878218	NM_000890.5(KCNJ5):c.-307C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 877307	NM_000890.5(KCNJ5):c.*795G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III	GBenign
Select item 877306	NM_000890.5(KCNJ5):c.*650C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 877246	NM_000890.5(KCNJ5):c.476A>G (p.Glu159Gly)	KCNJ5 (E159G)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 877245	NM_000890.5(KCNJ5):c.455A>G (p.Tyr152Cys)	KCNJ5 (Y152C)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 843194	NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg)	KCNJ5 (K407R)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 836272	NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln)	KCNJ5 (R242Q)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 702681	NM_000890.5(KCNJ5):c.438C>T (p.Thr146=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome 13 +3 more	GLikely benign
Select item 700400	NM_000890.5(KCNJ5):c.312C>T (p.Phe104=)	KCNJ5	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type III +4 more	GBenign/Likely benign
Select item 696054	NM_000890.5(KCNJ5):c.792C>T (p.Gly264=)	KCNJ5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 651091	NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)	KCNJ5 (R225H)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 527073	NM_000890.5(KCNJ5):c.645G>A (p.Leu215=)	KCNJ5	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type III +4 more	GLikely benign
Select item 520527	NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr)	KCNJ5 (A396T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 518624	NM_000890.5(KCNJ5):c.408C>T (p.Phe136=)	KCNJ5	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type III +3 more	GLikely benign
Select item 517972	NM_000890.5(KCNJ5):c.738G>A (p.Glu246=)	KCNJ5	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type III +4 more	GBenign/Likely benign
Select item 516126	NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +5 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 457007	NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn)	KCNJ5 (D123N)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 432222	NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)	KCNJ5 (E147K)	Single nucleotide variant (missense variant)	Long QT syndrome 13 +5 more	GUncertain significance
Select item 429508	NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp)	KCNJ5 (G222D)	Single nucleotide variant (missense variant)	Long QT syndrome 13 +3 more	GUncertain significance
Select item 404093	NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala)	KCNJ5 (D395A)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 303666	NM_000890.5(KCNJ5):c.*1310C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GBenign/Likely benign
Select item 303665	NM_000890.5(KCNJ5):c.*1302C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GBenign/Likely benign
Select item 303664	NM_000890.5(KCNJ5):c.*1216C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GBenign/Likely benign
Select item 303663	NM_000890.5(KCNJ5):c.*1168C>G	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GBenign
Select item 303662	NM_000890.5(KCNJ5):c.*1151C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GUncertain significance
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
Select item 303660	NM_000890.5(KCNJ5):c.*1063G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GBenign
Select item 303659	NM_000890.5(KCNJ5):c.*1024A>G	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303658	NM_000890.5(KCNJ5):c.*978T>G	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303657	NM_000890.5(KCNJ5):c.*977T>C	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GBenign/Likely benign
Select item 303656	NM_000890.5(KCNJ5):c.*976G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 303655	NM_000890.5(KCNJ5):c.*960G>C	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
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 303653	NM_000890.5(KCNJ5):c.*936C>G	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 303652	NM_000890.5(KCNJ5):c.*928C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 303649	NM_000890.5(KCNJ5):c.*804G>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GBenign
Select item 303648	NM_000890.5(KCNJ5):c.*779G>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GBenign
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 303646	NM_000890.5(KCNJ5):c.*747A>G	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303645	NM_000890.5(KCNJ5):c.*667C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303644	NM_000890.5(KCNJ5):c.*547G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GBenign/Likely benign
Select item 303643	NM_000890.5(KCNJ5):c.*528C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GBenign
Select item 303642	NM_000890.5(KCNJ5):c.*449A>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III	GLikely benign
Select item 303641	NM_000890.5(KCNJ5):c.*410C>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GBenign
Select item 303639	NM_000890.5(KCNJ5):c.*228G>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303638	NM_000890.5(KCNJ5):c.*200C>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303637	NM_000890.5(KCNJ5):c.*121G>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GBenign/Likely benign
Select item 303636	NM_000890.5(KCNJ5):c.*103G>C	KCNJ5	Single nucleotide variant (3 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303635	NM_000890.5(KCNJ5):c.*96G>A	KCNJ5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 303634	NM_000890.5(KCNJ5):c.*34G>T	KCNJ5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 303633	NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=)	KCNJ5	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type III +3 more	GBenign/Likely benign
Select item 303632	NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr)	KCNJ5 (M323T)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 303631	NM_000890.5(KCNJ5):c.800G>A (p.Arg267His)	KCNJ5 (R267H)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 303630	NM_000890.5(KCNJ5):c.744G>A (p.Glu248=)	KCNJ5	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type III +5 more	GBenign/Likely benign
Select item 303629	NM_000890.5(KCNJ5):c.591G>A (p.Ala197=)	KCNJ5	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type III +3 more	GConflicting classifications of pathogenicity
Select item 303628	NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)	KCNJ5 (I144V)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 303627	NM_000890.5(KCNJ5):c.273C>T (p.Leu91=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 303626	NM_000890.5(KCNJ5):c.-63G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 303625	NM_000890.5(KCNJ5):c.-253G>T	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303623	NM_000890.5(KCNJ5):c.-272A>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303621	NM_000890.5(KCNJ5):c.-285G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 303619	NM_000890.5(KCNJ5):c.-287G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303618	NM_000890.5(KCNJ5):c.-289G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303617	NM_000890.5(KCNJ5):c.-289GA[19]	KCNJ5	Microsatellite (5 prime UTR variant)	Congenital long QT syndrome +3 more	GUncertain significance
Select item 303616	NM_000890.5(KCNJ5):c.-289GA[18]	KCNJ5	Microsatellite (5 prime UTR variant)	Congenital long QT syndrome +3 more	GUncertain significance

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