ClinVar for Gene (Select 3759) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346172	NM_000891.3(KCNJ2):c.775G>A (p.Asp259Asn)	KCNJ2 (D259N)	Single nucleotide variant (missense variant)	KCNJ2-related disorder	GUncertain significance
Select item 3338393	NM_000891.3(KCNJ2):c.376G>C (p.Val126Leu)	KCNJ2 (V126L)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 3256864	NM_000891.3(KCNJ2):c.842del (p.Asp281fs)	KCNJ2 (D281fs)	Deletion (frameshift variant)	Andersen Tawil syndrome	GUncertain significance
Select item 3243061	NC_000017.10:g.(?_68166871)_(68171602_?)del	KCNJ2	Deletion	Andersen Tawil syndrome +1 more	GPathogenic
Select item 3243057	NC_000017.10:g.(?_68171181)_(70120528_?)del	KCNJ2, SOX9	Deletion	Camptomelic dysplasia	GPathogenic
Select item 3232301	NM_000891.3(KCNJ2):c.790G>A (p.Val264Met)	KCNJ2 (V264M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232300	NM_000891.3(KCNJ2):c.-3G>A	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232299	NM_000891.3(KCNJ2):c.16A>T (p.Thr6Ser)	KCNJ2 (T6S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3232298	NM_000891.3(KCNJ2):c.109G>A (p.Val37Ile)	KCNJ2 (V37I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3220886	NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg)	KCNJ2 (L90R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GPathogenic
Select item 2953334	NM_000891.3(KCNJ2):c.1193C>A (p.Thr398Asn)	KCNJ2 (T398N)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2952813	NM_000891.3(KCNJ2):c.265T>C (p.Cys89Arg)	KCNJ2 (C89R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2951918	NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)	KCNJ2 (G144V)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2951907	NM_000891.3(KCNJ2):c.993T>C (p.Phe331=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2951145	NM_000891.3(KCNJ2):c.706A>C (p.Ile236Leu)	KCNJ2 (I236L)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2950936	NM_000891.3(KCNJ2):c.643G>T (p.Gly215Cys)	KCNJ2 (G215C)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2949701	NM_000891.3(KCNJ2):c.225G>T (p.Thr75=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2949299	NM_000891.3(KCNJ2):c.1015G>C (p.Val339Leu)	KCNJ2 (V339L)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2947552	NM_000891.3(KCNJ2):c.1235C>T (p.Ala412Val)	KCNJ2 (A412V)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2947254	NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)	KCNJ2 (V394A)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2945701	NM_000891.3(KCNJ2):c.214A>G (p.Ile72Val)	KCNJ2 (I72V)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2944292	NM_000891.3(KCNJ2):c.261C>G (p.Ile87Met)	KCNJ2 (I87M)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2944273	NM_000891.3(KCNJ2):c.1148C>G (p.Thr383Arg)	KCNJ2 (T383R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2944046	NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)	KCNJ2 (V48M)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2940758	NM_000891.3(KCNJ2):c.789G>C (p.Leu263=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2937087	NM_000891.3(KCNJ2):c.1086A>G (p.Ala362=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2936501	NM_000891.3(KCNJ2):c.1151G>A (p.Ser384Asn)	KCNJ2 (S384N)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2934837	NM_000891.3(KCNJ2):c.426C>G (p.Thr142=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2934270	NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)	KCNJ2 (F30S)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2934118	NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2932834	NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)	KCNJ2 (G18R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2930691	NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2930210	NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2929738	NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)	KCNJ2 (N32K)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2928993	NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)	KCNJ2 (G2R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2928531	NM_000891.3(KCNJ2):c.696C>T (p.Leu232=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2928255	NM_000891.3(KCNJ2):c.1265G>A (p.Arg422Gln)	KCNJ2 (R422Q)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2928251	NM_000891.3(KCNJ2):c.252G>A (p.Met84Ile)	KCNJ2 (M84I)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2927351	NM_000891.3(KCNJ2):c.478A>G (p.Met160Val)	KCNJ2 (M160V)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2926868	NM_000891.3(KCNJ2):c.828C>T (p.Asp276=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2926410	NM_000891.3(KCNJ2):c.885G>A (p.Val295=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2926084	NM_000891.3(KCNJ2):c.452C>T (p.Thr151Met)	KCNJ2 (T151M)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2925116	NM_000891.3(KCNJ2):c.272C>T (p.Ala91Val)	KCNJ2 (A91V)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2923398	NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2923238	NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)	KCNJ2 (N318K)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2922323	NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)	KCNJ2 (Y336C)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2921508	NM_000891.3(KCNJ2):c.1085C>A (p.Ala362Glu)	KCNJ2 (A362E)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2682647	NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys)	KCNJ2	Single nucleotide variant (missense variant)	Short QT syndrome type 3	GPathogenic
Select item 2662019	NM_000891.3(KCNJ2):c.169C>T (p.Gln57Ter)	KCNJ2 (Q57*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2602434	NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +2 more	GLikely benign
Select item 2586798	NM_000891.3(KCNJ2):c.1147A>C (p.Thr383Pro)	KCNJ2 (T383P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2577327	NM_000891.3(KCNJ2):c.8G>C (p.Ser3Thr)	KCNJ2 (S3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566716	NM_000891.3(KCNJ2):c.1050C>G (p.Val350=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2566715	NM_000891.3(KCNJ2):c.192G>A (p.Lys64=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2566714	NM_000891.3(KCNJ2):c.199C>A (p.Arg67=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2566712	NM_000891.3(KCNJ2):c.21C>G (p.Asn7Lys)	KCNJ2 (N7K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2566711	NM_000891.3(KCNJ2):c.1142C>G (p.Ala381Gly)	KCNJ2 (A381G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2506639	NM_000891.3(KCNJ2):c.1274C>T (p.Ser425Leu)	KCNJ2 (S425L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502416	NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)	KCNJ2 (V200M)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2452379	NM_000891.3(KCNJ2):c.1221C>A (p.Asp407Glu)	KCNJ2 (D407E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452378	NM_000891.3(KCNJ2):c.819A>G (p.Ile273Met)	KCNJ2 (I273M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452377	NM_000891.3(KCNJ2):c.786T>A (p.Phe262Leu)	KCNJ2 (F262L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452376	NM_000891.3(KCNJ2):c.135C>T (p.Ser45=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447141	NM_000891.3(KCNJ2):c.494C>T (p.Ser165Leu)	KCNJ2 (S165L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2442607	NM_000891.3(KCNJ2):c.137G>A (p.Arg46His)	KCNJ2 (R46H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423433	NC_000017.10:g.(?_68171181)_(68172464_?)del	KCNJ2	Deletion	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2421925	NM_000891.3(KCNJ2):c.207C>T (p.Leu69=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +2 more	GLikely benign
Select item 2418139	NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys)	KCNJ2 (E327K)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 2196897	NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)	KCNJ2 (M84T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2191695	NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2190501	NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His)	KCNJ2 (P415H)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2190148	NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)	KCNJ2 (E153D)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2188253	NM_000891.3(KCNJ2):c.531C>A (p.Gly177=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2184003	NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr)	KCNJ2 (I248T)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 2179258	NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys)	KCNJ2 (E241K)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2165589	NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2163983	NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met)	KCNJ2 (T308M)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2162320	NM_000891.3(KCNJ2):c.402C>T (p.Leu134=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2161087	NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln)	KCNJ2 (R213Q)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2161079	NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp)	KCNJ2 (G206D)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2149616	NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)	KCNJ2 (M24V)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2149036	NM_000891.3(KCNJ2):c.510C>T (p.Ile170=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +1 more	GLikely benign
Select item 2147557	NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)	KCNJ2 (I248M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2144972	NM_000891.3(KCNJ2):c.723G>A (p.Glu241=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2126580	NM_000891.3(KCNJ2):c.326T>A (p.Leu109His)	KCNJ2 (L109H)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2120833	NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)	KCNJ2 (K36E)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2114887	NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala)	KCNJ2 (T400A)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2110758	NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)	KCNJ2 (I137T)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2099283	NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg)	KCNJ2 (L193R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2098462	NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)	KCNJ2 (R40L)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2089154	NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe)	KCNJ2 (L69F)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2059481	NM_000891.3(KCNJ2):c.564G>A (p.Lys188=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2056630	NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)	KCNJ2	Single nucleotide variant (stop lost)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2056627	NM_000891.3(KCNJ2):c.762T>C (p.Phe254=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2052697	NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)	KCNJ2 (I11V)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2049639	NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)	KCNJ2 (Y337C)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2036326	NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)	KCNJ2 (D78N)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GPathogenic
Select item 2024801	NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile)	KCNJ2 (M211I)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2020840	NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)	KCNJ2 (T75K)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2014825	NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly)	KCNJ2 (D401G)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance

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