ClinVar for MedGen (Select 462303) - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2911427	NM_172201.2(KCNE2):c.369dup (p.Ter124LeuextTer?)	KCNE2, LOC105372791	Duplication (non-coding transcript variant +2 more)	Long QT syndrome 6	GUncertain significance
Select item 2886864	NM_172201.2(KCNE2):c.26A>T (p.Gln9Leu)	KCNE2, LOC105372791 (Q9L)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome 6	GUncertain significance
Select item 2886091	NM_172201.2(KCNE2):c.141C>T (p.Tyr47=)	KCNE2, LOC105372791	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome 6	GLikely benign
Select item 2188479	NM_172201.2(KCNE2):c.354G>C (p.Gly118=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 2163002	NM_172201.2(KCNE2):c.301T>C (p.Leu101=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 2147375	NM_172201.2(KCNE2):c.119A>C (p.Lys40Thr)	KCNE2, LOC105372791 (K40T)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 2127889	NM_172201.2(KCNE2):c.31C>G (p.Leu11Val)	KCNE2, LOC105372791 (L11V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 2082091	NM_172201.2(KCNE2):c.116C>G (p.Ala39Gly)	KCNE2, LOC105372791 (A39G)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 2038256	NM_172201.2(KCNE2):c.163_165dup (p.Val55_Met56insVal)	KCNE2, LOC105372791	Duplication (inframe_insertion)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 2011407	NM_172201.2(KCNE2):c.243T>A (p.Asn81Lys)	KCNE2, LOC105372791 (N81K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1993956	NM_172201.2(KCNE2):c.330C>A (p.Ile110=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1798483	NM_172201.2(KCNE2):c.298A>C (p.Ile100Leu)	KCNE2, LOC105372791 (I100L)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 1790262	NM_172201.2(KCNE2):c.236A>G (p.His79Arg)	KCNE2, LOC105372791 (H79R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1783404	NM_172201.2(KCNE2):c.195G>T (p.Val65=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1781145	NM_172201.2(KCNE2):c.183T>G (p.Ser61=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1721226	NM_172201.2(KCNE2):c.86A>T (p.Asn29Ile)	KCNE2, LOC105372791 (N29I)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1684620	NM_172201.2(KCNE2):c.247C>G (p.Pro83Ala)	KCNE2, LOC105372791 (P83A)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1641836	NM_172201.2(KCNE2):c.369C>T (p.Pro123=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1607185	NM_172201.2(KCNE2):c.207G>A (p.Val69=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1556903	NM_172201.2(KCNE2):c.42C>A (p.Val14=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1485015	NM_172201.2(KCNE2):c.89C>T (p.Thr30Ile)	KCNE2, LOC105372791 (T30I)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1475863	NM_172201.2(KCNE2):c.144dup (p.Val49fs)	KCNE2, LOC105372791 (V49fs)	Duplication (frameshift variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1470610	NM_172201.2(KCNE2):c.250T>C (p.Tyr84His)	KCNE2, LOC105372791 (Y84H)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1469989	NM_172201.2(KCNE2):c.238T>C (p.Ser80Pro)	KCNE2, LOC105372791 (S80P)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1420029	NC_000021.8:g.(?_35742778)_(35821932_?)dup	KCNE1, KCNE2 +1 more	Duplication	Long QT syndrome +1 more	GUncertain significance
Select item 1390131	NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr)	KCNE2, LOC105372791 (A116T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1355597	NM_172201.2(KCNE2):c.345_346dup (p.Ala116fs)	KCNE2, LOC105372791 (A116fs)	Duplication (frameshift variant)	Long QT syndrome 6	GUncertain significance
Select item 1217300	NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)	KCNE2, LOC105372791 (S5P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GUncertain significance
Select item 1172865	NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser)	KCNE2, LOC105372791 (R27S)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 1140371	NM_172201.2(KCNE2):c.246C>T (p.Asp82=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1107314	NM_172201.2(KCNE2):c.228A>G (p.Arg76=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +2 more	GLikely benign
Select item 1100648	NM_172201.2(KCNE2):c.87C>T (p.Asn29=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +1 more	GLikely benign
Select item 1020116	NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn)	LOC105372791, KCNE2 (S98N)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1017741	NC_000021.8:g.(?_35742768)_(35743160_?)del	KCNE2	Deletion	Long QT syndrome 6	GUncertain significance
Select item 1014862	NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter)	KCNE2, LOC105372791 (R16*)	Single nucleotide variant (nonsense)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 1010050	NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser)	KCNE2, LOC105372791 (P123S)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1008832	NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe)	KCNE2, LOC105372791 (S122F)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1005300	NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr)	KCNE2, LOC105372791 (S74Y)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1003090	NM_172201.2(KCNE2):c.344G>T (p.Gly115Val)	KCNE2, LOC105372791 (G115V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 956020	NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser)	LOC105372791, KCNE2 (N81S)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 955646	NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp)	KCNE2, LOC105372791	Single nucleotide variant (stop lost)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 938947	NM_172201.2(KCNE2):c.160A>G (p.Met54Val)	KCNE2, LOC105372791 (M54V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 899357	NM_172201.2(KCNE2):c.*234G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 898250	NM_172201.2(KCNE2):c.*61C>T	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 898249	NM_172201.2(KCNE2):c.*11A>C	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 898248	NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile)	KCNE2, LOC105372791 (F60I)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 895204	NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser)	KCNE2, LOC105372791 (N6S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 846911	NM_172201.2(KCNE2):c.171T>G (p.Ile57Met)	KCNE2, LOC105372791 (I57M)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 705145	NM_172201.2(KCNE2):c.75T>C (p.Asn25=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 701307	NM_172201.2(KCNE2):c.318G>A (p.Ser106=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +1 more	GLikely benign
Select item 700968	NM_172201.2(KCNE2):c.348G>A (p.Ala116=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 698718	NM_172201.2(KCNE2):c.351T>G (p.Ala117=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 697688	NM_172201.2(KCNE2):c.309A>G (p.Leu103=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 692254	NM_172201.2(KCNE2):c.294C>G (p.Ser98Arg)	KCNE2, LOC105372791 (S98R)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 671162	NM_172201.2(KCNE2):c.30G>A (p.Thr10=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 666218	NC_000021.8:g.(?_35736455)_(35821942_?)dup	KCNE1, KCNE2 +1 more	Duplication	Long QT syndrome +1 more	GUncertain significance
Select item 659161	NM_172201.2(KCNE2):c.2T>C (p.Met1Thr)	KCNE2, LOC105372791 (M1T)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 584413	NC_000021.8:g.(?_35742772)_(36421202_?)del	CLIC6, KCNE2 +4 more	Deletion	Long QT syndrome 6	GUncertain significance
Select item 577399	NM_172201.2(KCNE2):c.122T>C (p.Val41Ala)	KCNE2, LOC105372791 (V41A)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 560697	NM_172201.2(KCNE2):c.67A>T (p.Met23Leu)	KCNE2, LOC105372791 (M23L)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +3 more	GUncertain significance
Select item 538876	NM_172201.2(KCNE2):c.204G>A (p.Leu68=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 519542	NM_172201.2(KCNE2):c.252C>T (p.Tyr84=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 519253	NM_172201.2(KCNE2):c.39C>T (p.Asp13=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +1 more	GLikely benign
Select item 514117	NM_172201.2(KCNE2):c.60T>C (p.Ile20=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 471500	NM_172201.2(KCNE2):c.339C>T (p.Asn113=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 471499	NM_172201.2(KCNE2):c.190A>G (p.Ile64Val)	KCNE2, LOC105372791 (I64V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 379226	NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu)	KCNE2, LOC105372791 (S106L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 377999	NM_172201.2(KCNE2):c.222C>T (p.Ser74=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 339720	NM_172201.2(KCNE2):c.*240G>C	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 4 +2 more	GUncertain significance
Select item 339719	NM_172201.2(KCNE2):c.*62G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 339718	NM_172201.2(KCNE2):c.153G>T (p.Leu51=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 339717	NM_172201.2(KCNE2):c.-52G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 339716	NM_172201.2(KCNE2):c.-79G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 339715	NM_172201.2(KCNE2):c.-80C>T	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339714	NM_172201.2(KCNE2):c.-85G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 339713	NM_172201.2(KCNE2):c.-121C>T	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Familial atrial fibrillation +4 more	GUncertain significance
Select item 191467	NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu)	KCNE2, LOC105372791 (F119L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 191164	NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn)	KCNE2, LOC105372791 (S70N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 190797	NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)	KCNE2, LOC105372791	Deletion (frameshift variant)	Long QT syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 190793	NM_172201.2(KCNE2):c.-13+5G>A	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 4 +3 more	GUncertain significance
Select item 190792	NM_172201.2(KCNE2):c.354G>A (p.Gly118=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 137978	NM_172201.2(KCNE2):c.261C>T (p.Tyr87=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 67623	NM_172201.2(KCNE2):c.80G>A (p.Arg27His)	KCNE2, LOC105372791 (R27H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 67621	NM_172201.2(KCNE2):c.40G>A (p.Val14Ile)	LOC105372791, KCNE2 (V14I)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GLikely benign
Select item 67620	NM_172201.2(KCNE2):c.347C>T (p.Ala116Val)	KCNE2, LOC105372791 (A116V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 67619	NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)	LOC105372791, KCNE2 (T10M)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 67618	NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly)	KCNE2, LOC105372791 (E94G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 67615	NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)	KCNE2, LOC105372791 (T8A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 67614	NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)	KCNE2, LOC105372791 (R77W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +4 more	GConflicting classifications of pathogenicity
Select item 67613	NM_172201.2(KCNE2):c.197C>T (p.Ala66Val)	KCNE2, LOC105372791 (A66V)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 67612	NM_172201.2(KCNE2):c.193G>C (p.Val65Leu)	LOC105372791, KCNE2 (V65L)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 67611	NM_172201.2(KCNE2):c.193G>A (p.Val65Met)	KCNE2, LOC105372791 (V65M)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 6055	NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)	KCNE2, LOC105372791 (R27C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 6054	NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)	KCNE2, LOC105372791 (I57T)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +5 more	GConflicting classifications of pathogenicity
Select item 6053	NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)	KCNE2, LOC105372791 (M54T)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 6052	NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)	KCNE2, LOC105372791 (Q9E)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +4 more	GBenign/Likely benign

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Items: 96