ClinVar for MedGen (Select 462781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1425317	NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe)	KCNJ2 (L232F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1423577	NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)	KCNJ2 (K50R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 1387485	NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val)	KCNJ2 (L108V)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 1280715	NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT	KCNJ2	Insertion (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 1273919	NM_000891.3(KCNJ2):c.-163_-162insTC	KCNJ2	Insertion (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 1253769	NM_000891.3(KCNJ2):c.*2758T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +3 more	GBenign
Select item 1252100	NM_000891.3(KCNJ2):c.*2752T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +3 more	GBenign
Select item 892249	NM_000891.3(KCNJ2):c.*2753T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 892191	NM_000891.3(KCNJ2):c.*2339G>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 892190	NM_000891.3(KCNJ2):c.*2328T>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 892130	NM_000891.3(KCNJ2):c.*1465A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GConflicting classifications of pathogenicity
Select item 892005	NM_000891.3(KCNJ2):c.*210A>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GConflicting classifications of pathogenicity
Select item 891106	NM_000891.3(KCNJ2):c.*3173C>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 891025	NM_000891.3(KCNJ2):c.*2748T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 890895	NM_000891.3(KCNJ2):c.*1449C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 890847	NM_000891.3(KCNJ2):c.*1266C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GBenign
Select item 890846	NM_000891.3(KCNJ2):c.*1226C>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 890808	NM_000891.3(KCNJ2):c.*709A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 890719	NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg)	KCNJ2 (P404R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 890665	NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys)	KCNJ2 (R8C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 9 +3 more	GUncertain significance
Select item 890537	NM_000891.3(KCNJ2):c.*3032A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 890462	NM_000891.3(KCNJ2):c.*2508G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 890396	NM_000891.3(KCNJ2):c.*2065A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 890332	NM_000891.3(KCNJ2):c.*1361C>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 890186	NM_000891.3(KCNJ2):c.*108G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GConflicting classifications of pathogenicity
Select item 889592	NM_000891.3(KCNJ2):c.*572G>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GConflicting classifications of pathogenicity
Select item 889591	NM_000891.3(KCNJ2):c.*308C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 889527	NM_000891.3(KCNJ2):c.*39C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 889526	NM_000891.3(KCNJ2):c.*35A>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GConflicting classifications of pathogenicity
Select item 889525	NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 889453	NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly)	KCNJ2 (D114G)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 889398	NM_000891.3(KCNJ2):c.-348G>A	KCNJ2, LOC130061539	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 889397	NM_000891.3(KCNJ2):c.-361G>C	KCNJ2, LOC130061539	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 888915	NM_000891.3(KCNJ2):c.*3409A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 888843	NM_000891.3(KCNJ2):c.*2887T>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 888842	NM_000891.3(KCNJ2):c.*2759T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +3 more	GConflicting classifications of pathogenicity
Select item 888754	NM_000891.3(KCNJ2):c.*2370C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 888753	NM_000891.3(KCNJ2):c.*2343C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 888688	NM_000891.3(KCNJ2):c.*1646T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 888629	NM_000891.3(KCNJ2):c.*1345G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 888628	NM_000891.3(KCNJ2):c.*1320C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 888585	NM_000891.3(KCNJ2):c.*1030C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 888584	NM_000891.3(KCNJ2):c.*879C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 705806	NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 689769	NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)	KCNJ2 (E299G)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GLikely pathogenic
Select item 468468	NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)	KCNJ2 (L282W)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +4 more	GConflicting classifications of pathogenicity
Select item 453204	NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser)	KCNJ2 (N251S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 9 +3 more	GUncertain significance
Select item 449152	NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe)	KCNJ2 (C101F)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +3 more	GUncertain significance
Select item 431842	NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)	KCNJ2 (R325H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 403977	NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)	KCNJ2 (A70S)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +5 more	GConflicting classifications of pathogenicity
Select item 378007	NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)	KCNJ2	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 9 +4 more	GConflicting classifications of pathogenicity
Select item 378005	NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 324898	NM_000891.3(KCNJ2):c.*3618A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324897	NM_000891.3(KCNJ2):c.*3536C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324896	NM_000891.3(KCNJ2):c.*3496T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GBenign
Select item 324893	NM_000891.3(KCNJ2):c.*3353C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324892	NM_000891.3(KCNJ2):c.*3352T>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324891	NM_000891.3(KCNJ2):c.*3208A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GConflicting classifications of pathogenicity
Select item 324890	NM_000891.3(KCNJ2):c.*3163T>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 324889	NM_000891.3(KCNJ2):c.*3025G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324888	NM_000891.3(KCNJ2):c.*2893C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GConflicting classifications of pathogenicity
Select item 324886	NM_000891.3(KCNJ2):c.*2812T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 324884	NM_000891.3(KCNJ2):c.*2754T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 324879	NM_000891.3(KCNJ2):c.*2775dup	KCNJ2	Duplication (3 prime UTR variant)	Andersen Tawil syndrome +4 more	GUncertain significance
Select item 324878	NM_000891.3(KCNJ2):c.*2698T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324877	NM_000891.3(KCNJ2):c.*2663T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324876	NM_000891.3(KCNJ2):c.*2616A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324875	NM_000891.3(KCNJ2):c.*2526A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 324874	NM_000891.3(KCNJ2):c.*2483G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324873	NM_000891.3(KCNJ2):c.*2277C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324872	NM_000891.3(KCNJ2):c.*2270G>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324871	NM_000891.3(KCNJ2):c.*2262C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GConflicting classifications of pathogenicity
Select item 324870	NM_000891.3(KCNJ2):c.*2001A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 324869	NM_000891.3(KCNJ2):c.*1815G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 324868	NM_000891.3(KCNJ2):c.*1794C>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324860	NM_000891.3(KCNJ2):c.*1631C>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324859	NM_000891.3(KCNJ2):c.*1596A>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 324858	NM_000891.3(KCNJ2):c.*1440A>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324857	NM_000891.3(KCNJ2):c.*1412G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324856	NM_000891.3(KCNJ2):c.*1367T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324855	NM_000891.3(KCNJ2):c.*1350G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +3 more	GBenign/Likely benign
Select item 324854	NM_000891.3(KCNJ2):c.*1267A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 324853	NM_000891.3(KCNJ2):c.*1251C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +3 more	GBenign
Select item 324852	NM_000891.3(KCNJ2):c.*1198A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +3 more	GBenign
Select item 324851	NM_000891.3(KCNJ2):c.*1128dup	KCNJ2	Duplication (3 prime UTR variant)	Familial atrial fibrillation +4 more	GUncertain significance
Select item 324850	NM_000891.3(KCNJ2):c.*1125G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GBenign/Likely benign
Select item 324849	NM_000891.3(KCNJ2):c.*1069C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +3 more	GBenign
Select item 324848	NM_000891.3(KCNJ2):c.*996C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 324847	NM_000891.3(KCNJ2):c.*832G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +3 more	GBenign
Select item 324846	NM_000891.3(KCNJ2):c.*766C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 324845	NM_000891.3(KCNJ2):c.*732T>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 324844	NM_000891.3(KCNJ2):c.*687A>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 324842	NM_000891.3(KCNJ2):c.*624G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +3 more	GBenign
Select item 324841	NM_000891.3(KCNJ2):c.*596T>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 324840	NM_000891.3(KCNJ2):c.*558C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 324838	NM_000891.3(KCNJ2):c.*213G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324837	NM_000891.3(KCNJ2):c.*211T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GConflicting classifications of pathogenicity
Select item 324836	NM_000891.3(KCNJ2):c.*136G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 324835	NM_000891.3(KCNJ2):c.*124G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324834	NM_000891.3(KCNJ2):c.*122G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance

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