Full data view for gene KCNE2

Information The variants shown are described using the NM_172201.1 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-432396_*1122862del r.0? p.0? Unknown - pathogenic g.35304067_36866011del - - - CLIC6_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.-79G>A r.(?) p.(=) Unknown - benign g.35736384G>A g.34364085G>A - - KCNE2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-52G>A r.(?) p.(=) Unknown - VUS g.35736411G>A g.34364112G>A - - KCNE2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13+121dup r.(=) p.(=) Unknown - benign g.35736571dup g.34364272dup - - KCNE2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12-16A>G r.(=) p.(=) Unknown - benign g.35742750A>G g.34370451A>G - - KCNE2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.22A>G r.(?) p.(Thr8Ala) Unknown - benign g.35742799A>G g.34370500A>G - - KCNE2_000032 - PubMed: Ackerman 2003 - - Germline - 2/187 controls - - - DNA SEQ - - - 14661725-con PubMed: Ackerman 2003 187 Caucasian controls - - United States European, white - - - - 2 Johan den Dunnen
-/. - c.22A>G r.(?) p.(Thr8Ala) Unknown - benign g.35742799A>G g.34370500A>G KCNE2(NM_172201.1):c.22A>G (p.T8A), KCNE2(NM_172201.2):c.22A>G (p.T8A) - KCNE2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22A>G r.(?) p.(Thr8Ala) Unknown - likely benign g.35742799A>G g.34370500A>G KCNE2(NM_172201.1):c.22A>G (p.T8A), KCNE2(NM_172201.2):c.22A>G (p.T8A) - KCNE2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22A>G r.(?) p.(Thr8Ala) Unknown - likely benign g.35742799A>G g.34370500A>G KCNE2(NM_172201.1):c.22A>G (p.T8A), KCNE2(NM_172201.2):c.22A>G (p.T8A) - KCNE2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22A>G r.(?) p.(Thr8Ala) Parent #1 - likely benign g.35742799A>G g.34370500A>G - - KCNE2_000032 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2234916 Germline - 15/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
-?/. - c.22A>G r.(?) p.(Thr8Ala) Unknown - likely benign g.35742799A>G - KCNE2(NM_172201.1):c.22A>G (p.T8A), KCNE2(NM_172201.2):c.22A>G (p.T8A) - KCNE2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.24A>G r.(?) p.(Thr8=) Unknown - benign g.35742801A>G g.34370502A>G KCNE2(NM_172201.2):c.24A>G (p.T8=) - KCNE2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.25C>G r.(?) p.(Gln9Glu) Unknown - benign g.35742802C>G g.34370503C>G - - KCNE2_000033 - PubMed: Ackerman 2003 - - Germline - 10/305 controls - - - DNA SEQ - - - 14661708-con PubMed: Ackerman 2003 305 African American controls - - United States African Americans - - - - 10 Johan den Dunnen
-?/. - c.25C>G r.(?) p.(Gln9Glu) Unknown - likely benign g.35742802C>G g.34370503C>G KCNE2(NM_172201.1):c.25C>G (p.Q9E), KCNE2(NM_172201.2):c.25C>G (p.Q9E) - KCNE2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25C>G r.(?) p.(Gln9Glu) Unknown - likely benign g.35742802C>G g.34370503C>G KCNE2(NM_172201.1):c.25C>G (p.Q9E), KCNE2(NM_172201.2):c.25C>G (p.Q9E) - KCNE2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.28A>G r.(?) p.(Thr10Ala) Unknown - benign g.35742805A>G g.34370506A>G - - KCNE2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.29C>T r.(?) p.(Thr10Met) Unknown - likely pathogenic g.35742806C>T g.34370507C>T - - KCNE2_000031 - - - - Germline - - - - - DNA SEQ-NG-I - - SUD - - - F - Denmark - 36y - - - 1 Sofie Lindgren Christiansen
-?/. - c.29C>T r.(?) p.(Thr10Met) Unknown - likely benign g.35742806C>T - - - KCNE2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40G>A r.(?) p.(Val14Ile) Unknown - likely benign g.35742817G>A g.34370518G>A KCNE2(NM_172201.2):c.40G>A (p.V14I) - KCNE2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40G>A r.(?) p.(Val14Ile) Unknown - likely benign g.35742817G>A - KCNE2(NM_172201.2):c.40G>A (p.V14I) - KCNE2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.80G>A r.(?) p.(Arg27His) Unknown - VUS g.35742857G>A g.34370558G>A KCNE2(NM_172201.2):c.80G>A (p.R27H) - KCNE2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80G>A r.(?) p.(Arg27His) Unknown - likely benign g.35742857G>A g.34370558G>A KCNE2(NM_172201.2):c.80G>A (p.R27H) - KCNE2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112C>A r.(?) p.(Gln38Lys) Unknown - VUS g.35742889C>A - KCNE2(NM_172201.1):c.112C>A (p.Q38K) - KCNE2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.117del r.(?) p.(Val41Leufs*15) Unknown - VUS g.35742894del - KCNE2(NM_172201.2):c.117delC (p.V41Lfs*15) - KCNE2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139T>C r.(?) p.(Tyr47His) Unknown - VUS g.35742916T>C g.34370617T>C KCNE2(NM_172201.2):c.139T>C (p.Y47H) - KCNE2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161T>C r.(?) p.(Met54Thr) Unknown - VUS g.35742938T>C - - - KCNE2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163_165dup r.(?) p.(Val55dup) Unknown - VUS g.35742940_35742942dup g.34370641_34370643dup - - KCNE2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170T>C r.(?) p.(Ile57Thr) Unknown - likely benign g.35742947T>C g.34370648T>C KCNE2(NM_172201.1):c.170T>C (p.I57T), KCNE2(NM_172201.2):c.170T>C (p.I57T) - KCNE2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170T>C r.(?) p.(Ile57Thr) Unknown - likely benign g.35742947T>C g.34370648T>C KCNE2(NM_172201.1):c.170T>C (p.I57T), KCNE2(NM_172201.2):c.170T>C (p.I57T) - KCNE2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170T>C r.(?) p.(Ile57Thr) Parent #1 - VUS g.35742947T>C g.34370648T>C - - KCNE2_000045 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74315448 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.170T>C r.(?) p.(Ile57Thr) Unknown - likely benign g.35742947T>C - KCNE2(NM_172201.1):c.170T>C (p.I57T), KCNE2(NM_172201.2):c.170T>C (p.I57T) - KCNE2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.178T>C r.(?) p.(Phe60Leu) Parent #1 - pathogenic g.35742955T>C g.34370656T>C - - KCNE2_000052 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16991654 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.189C>T r.(?) p.(Ile63=) Unknown - likely benign g.35742966C>T g.34370667C>T KCNE2(NM_172201.2):c.189C>T (p.I63=) - KCNE2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.197C>T r.(?) p.(Ala66Val) Unknown - benign g.35742974C>T g.34370675C>T - - KCNE2_000034 - PubMed: Ackerman 2003 - - Germline - 1/305 controls - - - DNA SEQ - - - 14661709-con PubMed: Ackerman 2003 305 African American controls - - United States African Americans - - - - 1 Johan den Dunnen
-/. - c.309A>G r.(?) p.(Leu103=) Unknown - benign g.35743086A>G g.34370787A>G KCNE2(NM_172201.2):c.309A>G (p.L103=) - KCNE2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354G>A r.(?) p.(Gly118=) Unknown - benign g.35743131G>A g.34370832G>A KCNE2(NM_172201.2):c.354G>A (p.G118=) - KCNE2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354G>A r.(?) p.(Gly118=) Unknown - likely benign g.35743131G>A - KCNE2(NM_172201.2):c.354G>A (p.G118=) - KCNE2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358A>C r.(?) p.(Lys120Gln) Unknown - VUS g.35743135A>C g.34370836A>C KCNE2(NM_172201.2):c.358A>C (p.K120Q) - KCNE2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.369_370del r.(?) p.(*124Ileext*14) Parent #1 - VUS g.35743146_35743147del g.34370847_34370848del - - KCNE2_000053 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45610936 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.369_370del r.(?) p.(*124Ileext*14) Unknown - likely benign g.35743146_35743147del - - - KCNE2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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