Related gene-specific medical variations for Gene (Select 9992) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287553	NM_172201.2(KCNE2):c.253dup (p.His85fs)	KCNE2, LOC105372791 (H85fs)	Duplication (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3287552	NM_172201.2(KCNE2):c.37G>A (p.Asp13Asn)	KCNE2, LOC105372791 (D13N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3287551	NM_172201.2(KCNE2):c.189C>T (p.Ile63=)	KCNE2, LOC105372791	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3229284	NM_172201.2(KCNE2):c.65A>T (p.Tyr22Phe)	KCNE2, LOC105372791 (Y22F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229283	NM_172201.2(KCNE2):c.23C>A (p.Thr8Lys)	KCNE2, LOC105372791 (T8K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 2562644	NM_172201.2(KCNE2):c.177G>A (p.Met59Ile)	KCNE2, LOC105372791 (M59I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2502591	NM_172201.2(KCNE2):c.*8G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2447578	NM_172201.2(KCNE2):c.181T>C (p.Ser61Pro)	KCNE2, LOC105372791 (S61P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447577	NM_172201.2(KCNE2):c.201C>G (p.Ile67Met)	KCNE2, LOC105372791 (I67M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2011407	NM_172201.2(KCNE2):c.243T>A (p.Asn81Lys)	KCNE2, LOC105372791 (N81K)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1797779	NM_172201.2(KCNE2):c.292A>C (p.Ser98Arg)	KCNE2, LOC105372791 (S98R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1793764	NM_172201.2(KCNE2):c.260A>G (p.Tyr87Cys)	KCNE2, LOC105372791 (Y87C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1790707	NM_172201.2(KCNE2):c.23C>T (p.Thr8Ile)	KCNE2, LOC105372791 (T8I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1790262	NM_172201.2(KCNE2):c.236A>G (p.His79Arg)	KCNE2, LOC105372791 (H79R)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 1788745	NM_172201.2(KCNE2):c.226A>C (p.Arg76=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1782835	NM_172201.2(KCNE2):c.192C>T (p.Ile64=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 1773531	NM_172201.2(KCNE2):c.147C>T (p.Val49=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1771977	NM_172201.2(KCNE2):c.140A>G (p.Tyr47Cys)	KCNE2, LOC105372791 (Y47C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1753333	NM_172201.2(KCNE2):c.63T>C (p.Thr21=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1738649	NM_172201.2(KCNE2):c.41T>A (p.Val14Asp)	KCNE2, LOC105372791 (V14D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733751	NM_172201.2(KCNE2):c.366C>A (p.Ser122=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733399	NM_172201.2(KCNE2):c.362T>C (p.Met121Thr)	KCNE2, LOC105372791 (M121T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1732143	NM_172201.2(KCNE2):c.350C>T (p.Ala117Val)	KCNE2, LOC105372791 (A117V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731251	NM_172201.2(KCNE2):c.341T>C (p.Ile114Thr)	LOC105372791, KCNE2 (I114T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1730406	NM_172201.2(KCNE2):c.333T>C (p.His111=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1730180	NM_172201.2(KCNE2):c.331C>T (p.His111Tyr)	KCNE2, LOC105372791 (H111Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729606	NM_172201.2(KCNE2):c.326C>T (p.Thr109Ile)	KCNE2, LOC105372791 (T109I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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)	LOC105372791, KCNE2 (V49fs)	Duplication (frameshift variant)	Long QT syndrome 6 +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 1390131	NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr)	KCNE2, LOC105372791 (A116T)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 1355597	NM_172201.2(KCNE2):c.345_346dup (p.Ala116fs)	LOC105372791, KCNE2 (A116fs)	Duplication (frameshift variant)	Long QT syndrome 6	GUncertain significance
Select item 1306180	NM_172201.2(KCNE2):c.141del (p.Tyr48fs)	KCNE2, LOC105372791 (Y48fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1304831	NM_172201.2(KCNE2):c.14C>T (p.Ser5Phe)	KCNE2, LOC105372791 (S5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291248	NM_172201.2(KCNE2):c.*193G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291246	NM_172201.2(KCNE2):c.*33G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291245	NM_172201.2(KCNE2):c.-12-56C>T	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249135	NM_172201.2(KCNE2):c.*310G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1249109	NM_172201.2(KCNE2):c.-19T>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248460	NM_172201.2(KCNE2):c.*233C>T	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1242701	NM_172201.2(KCNE2):c.-12-44C>T	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217300	NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)	KCNE2, LOC105372791 (S5P)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 1202849	NM_172201.2(KCNE2):c.-12-27T>C	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188351	NM_172201.2(KCNE2):c.-13+313T>C	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Atrial fibrillation, familial, 4 +2 more	GLikely benign
Select item 1100648	NM_172201.2(KCNE2):c.87C>T (p.Asn29=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1020116	NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn)	KCNE2, LOC105372791 (S98N)	Single nucleotide variant (missense variant)	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)	LOC105372791, KCNE2 (G115V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 956020	NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser)	KCNE2, LOC105372791 (N81S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GUncertain significance
Select item 955646	NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp)	KCNE2, LOC105372791	Single nucleotide variant (stop lost)	Cardiovascular phenotype +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)	Cardiovascular phenotype +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=)	LOC105372791, KCNE2	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)	Long QT syndrome 6 +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 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 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)	Long QT syndrome 6 +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)	Long QT syndrome 6 +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 518756	NM_172201.2(KCNE2):c.25C>T (p.Gln9Ter)	KCNE2, LOC105372791 (Q9*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 514117	NM_172201.2(KCNE2):c.60T>C (p.Ile20=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +1 more	GLikely benign
Select item 471500	NM_172201.2(KCNE2):c.339C>T (p.Asn113=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +1 more	GLikely benign
Select item 471499	NM_172201.2(KCNE2):c.190A>G (p.Ile64Val)	KCNE2, LOC105372791 (I64V)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 429273	NM_172201.2(KCNE2):c.97G>A (p.Glu33Lys)	KCNE2, LOC105372791 (E33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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