ClinVar for MedGen (Select 327586) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243061	NC_000017.10:g.(?_68166871)_(68171602_?)del	KCNJ2	Deletion	Andersen Tawil syndrome +1 more	GPathogenic
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)	Short QT syndrome type 3 +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)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2947254	NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)	KCNJ2 (V394A)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +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)	Short QT syndrome type 3 +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)	Short QT syndrome type 3 +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)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2930691	NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +1 more	GLikely benign
Select item 2930210	NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +1 more	GLikely benign
Select item 2929738	NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)	KCNJ2 (N32K)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2928993	NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)	KCNJ2 (G2R)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +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)	Short QT syndrome type 3 +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)	Short QT syndrome type 3 +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)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2923398	NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +1 more	GLikely benign
Select item 2923238	NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)	KCNJ2 (N318K)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2922323	NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)	KCNJ2 (Y336C)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +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 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 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 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 +1 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 +1 more	GUncertain significance
Select item 2196897	NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)	KCNJ2 (M84T)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +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)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2190148	NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)	KCNJ2 (E153D)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +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)	not specified +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)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2147557	NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)	KCNJ2 (I248M)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 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)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2110758	NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)	KCNJ2 (I137T)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +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)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2049639	NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)	KCNJ2 (Y337C)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +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)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 2020840	NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)	KCNJ2 (T75K)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +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
Select item 2010245	NM_000891.3(KCNJ2):c.234C>T (p.Asp78=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +1 more	GLikely benign
Select item 1995178	NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg)	KCNJ2 (S196R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1952363	NM_000891.3(KCNJ2):c.699A>G (p.Lys233=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1952020	NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr)	KCNJ2 (I106T)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1922518	NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +2 more	GLikely benign
Select item 1920891	NM_000891.3(KCNJ2):c.489C>T (p.Phe163=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1920828	NM_000891.3(KCNJ2):c.591C>T (p.His197=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1880634	NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)	KCNJ2 (R5G)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1805668	NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)	KCNJ2 (S390I)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1759916	NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1750121	NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1741441	NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +2 more	GLikely benign
Select item 1738473	NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +2 more	GLikely benign
Select item 1723134	NM_000891.3(KCNJ2):c.839A>G (p.Tyr280Cys)	KCNJ2 (Y280C)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 1723133	NM_000891.3(KCNJ2):c.334G>T (p.Asp112Tyr)	KCNJ2 (D112Y)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 1720557	NM_000891.3(KCNJ2):c.763G>C (p.Asp255His)	KCNJ2 (D255H)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 1719995	NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe)	KCNJ2 (V194F)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 1715427	NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu)	KCNJ2 (K185E)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1687420	NM_000891.3(KCNJ2):c.203A>G (p.Tyr68Cys)	KCNJ2 (Y68C)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 1663195	NM_000891.3(KCNJ2):c.999G>A (p.Glu333=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1662816	NM_000891.3(KCNJ2):c.810C>T (p.Val270=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1648816	NM_000891.3(KCNJ2):c.684A>C (p.Arg228=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1647510	NM_000891.3(KCNJ2):c.1005C>T (p.His335=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1627275	NM_000891.3(KCNJ2):c.99G>A (p.Gly33=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +1 more	GLikely benign

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