"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNJ5"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303608	NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +3 more	GUncertain significance
Select item 879671	NM_000890.5(KCNJ5):c.-291C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +2 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)	Familial hyperaldosteronism +4 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 1010966	NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met)	KCNJ5 (T40M)	Single nucleotide variant (missense variant)	Long QT syndrome 13 +2 more	GUncertain significance
Select item 1014195	NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys)	KCNJ5 (R50C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 941579	NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)	KCNJ5 (R72W)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
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)	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 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 1094016	NM_000890.5(KCNJ5):c.351C>T (p.Asp117=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +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 13 +2 more	GUncertain significance
Select item 518624	NM_000890.5(KCNJ5):c.408C>T (p.Phe136=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GLikely benign
Select item 702681	NM_000890.5(KCNJ5):c.438C>T (p.Thr146=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 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 1045677	NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile)	KCNJ5 (V178I)	Single nucleotide variant (missense variant)	Long QT syndrome +2 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 1058806	NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp)	KCNJ5 (R211W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 527073	NM_000890.5(KCNJ5):c.645G>A (p.Leu215=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
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 651091	NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)	KCNJ5 (R225H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 836272	NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln)	KCNJ5 (R242Q)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
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 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 514661	NM_000890.5(KCNJ5):c.795C>T (p.Asp265=)	KCNJ5	Single nucleotide variant (synonymous variant)	not specified +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 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 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 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 1054696	NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter)	KCNJ5 (R332*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 238195	NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln)	KCNJ5 (R375Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 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 404093	NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala)	KCNJ5 (D395A)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 520527	NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr)	KCNJ5 (A396T)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 843194	NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg)	KCNJ5 (K407R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1050347	NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser)	KCNJ5 (R416S)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
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

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Items: 44