Full data view for gene KCNE1

Information The variants shown are described using the NM_000219.4 transcript reference sequence.

127 entries on 2 pages. Showing entries 1 - 100.
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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.-982063_*517476del r.0? p.0? Unknown - pathogenic g.35304067_36866011del - - - CLIC6_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-/. - c.-685C>T r.(?) p.(=) Unknown - benign g.35884633G>A g.34512335G>A - - KCNE1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-577C>T r.(?) p.(=) Unknown - benign g.35884525G>A g.34512227G>A - - KCNE1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-253A>G r.(?) p.(=) Unknown - likely benign g.35883490T>C g.34511192T>C - - KCNE1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-252G>A r.(?) p.(=) Unknown - benign g.35883489C>T g.34511191C>T - - KCNE1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.-3del r.(=) p.(=) Parent #1 - VUS g.35821935del g.34449637del - - KCNE1_000149 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.4A>T r.(?) p.(Ile2Phe) Unknown ACMG VUS g.35821929T>A g.34449631T>A - - KCNE1_000151 - PubMed: Isbister 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - CM BVH1 PubMed: Isbister 2020 - - - Australia - - 0 - - 1 Johan den Dunnen
-?/. - c.8T>C r.(?) p.(Leu3Pro) Unknown - likely benign g.35821925A>G g.34449627A>G - - KCNE1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.9_12del r.(?) p.(Ser4Thrfs*5) Parent #1 - pathogenic g.35821923_35821926del g.34449625_34449628del - - KCNE1_000148 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.12dup r.(?) p.(Asn5*) Parent #1 - pathogenic g.35821921dup g.34449623dup - - KCNE1_000147 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.18C>G r.(=) p.(=) Parent #1 - likely benign g.35821915G>C g.34449617G>C - - KCNE1_000146 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.20C>T r.(?) p.(Thr7Ile) Parent #1 - pathogenic g.35821913G>A g.34449615G>A - - KCNE1_000145 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Schulze-Bahr 1997 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Tranebjærg 1993, PubMed: Schulze-Bahr 1997 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.23C>T r.(?) p.(Ala8Val) Parent #1 - pathogenic g.35821910G>A g.34449612G>A - - KCNE1_000144 - MORL Deafness Variation Database, PubMed: Ohno 2007, PubMed: Priori 2013, PubMed: Kapplinger 2009, PubMed: Amendola 2015 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Ohno 2007, PubMed: Priori 2013, PubMed: Kapplinger 2009, PubMed: Amendola 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Thr10Met) Unknown - VUS g.35821904G>A g.34449606G>A KCNE1(NM_001127670.1):c.29C>T (p.T10M) - KCNE1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.29C>T r.(?) p.(Thr10Met) Parent #1 - pathogenic g.35821904G>A g.34449606G>A - - KCNE1_000096 - MORL Deafness Variation Database, PubMed: Priori 2013, PubMed: Kapplinger 2009, PubMed: Ng 2013, PubMed: Amendola 2015 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Priori 2013, PubMed: Kapplinger 2009, PubMed: Ng 2013, PubMed: Amendola 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Thr10Met) Parent #1 - VUS g.35821904G>A g.34449606G>A - - KCNE1_000096 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144917638 Germline - 4/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
?/. - c.29C>T r.(?) p.(Thr10Met) Unknown - VUS g.35821904G>A g.34449606G>A KCNE1(NM_001127670.1):c.29C>T (p.T10M) - KCNE1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29C>T r.(?) p.(Thr10Met) Unknown - VUS g.35821904G>A - KCNE1(NM_001127670.1):c.29C>T (p.T10M) - KCNE1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.30G>A r.(?) p.(Thr10=) Unknown - benign g.35821903C>T g.34449605C>T - - KCNE1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.30G>T r.(=) p.(=) Parent #1 - likely benign g.35821903C>A g.34449605C>A - - KCNE1_000143 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.47T>C r.(?) p.(Leu16Pro) Parent #1 - pathogenic g.35821886A>G g.34449588A>G - - KCNE1_000142 - MORL Deafness Variation Database, PubMed: Yoshinaga 2014 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Yoshinaga 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.49T>C r.(?) p.(Trp17Arg) Unknown - VUS g.35821884A>G g.34449586A>G KCNE1(NM_001127670.1):c.49T>C (p.W17R) - KCNE1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.50G>A r.(?) p.(Trp17*) Parent #1 - pathogenic g.35821883C>T g.34449585C>T - - KCNE1_000141 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.59C>T r.(?) p.(Thr20Ile) Parent #1 - pathogenic g.35821874G>A g.34449576G>A - - KCNE1_000140 - MORL Deafness Variation Database, PubMed: Millat 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Millat 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.74G>T r.(?) p.(Gly25Val) Parent #1 - pathogenic g.35821859C>A g.34449561C>A - - KCNE1_000139 - MORL Deafness Variation Database, PubMed: Olesen 2012 - - SUMMARY record - - - 0 - DNA ? - - ATFB - PubMed: Olesen 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.83C>T r.(?) p.(Ser28Leu) Parent #1 - pathogenic g.35821850G>A g.34449552G>A - - KCNE1_000138 - MORL Deafness Variation Database, PubMed: Obeyesekere 2012, PubMed: Kapplinger 2009, PubMed: Shim 2005 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Obeyesekere 2012, PubMed: Kapplinger 2009, PubMed: Shim 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.84G>A r.(?) p.(Ser28=) Unknown - benign g.35821849C>T g.34449551C>T KCNE1(NM_000219.3):c.84G>A (p.S28=), KCNE1B(NM_001330065.1):c.93G>A (p.S31=) - KCNE1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.84G>A r.(?) p.(Ser28=) Unknown - likely benign g.35821849C>T g.34449551C>T KCNE1(NM_000219.3):c.84G>A (p.S28=), KCNE1B(NM_001330065.1):c.93G>A (p.S31=) - KCNE1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.84G>A r.(?) p.(Ser28=) Unknown - likely benign g.35821849C>T g.34449551C>T KCNE1(NM_000219.3):c.84G>A (p.S28=), KCNE1B(NM_001330065.1):c.93G>A (p.S31=) - KCNE1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84G>A r.(?) p.(Ser28=) Unknown - benign g.35821849C>T g.34449551C>T KCNE1(NM_000219.3):c.84G>A (p.S28=), KCNE1B(NM_001330065.1):c.93G>A (p.S31=) - KCNE1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85G>A r.(?) p.(Gly29Ser) Unknown - VUS g.35821848C>T g.34449550C>T - - KCNE1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.94C>T r.(?) p.(Arg32Cys) Parent #1 - pathogenic g.35821839G>A g.34449541G>A - - KCNE1_000137 - MORL Deafness Variation Database, PubMed: McGorrian 2013 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: McGorrian 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 4 c.95G>A r.(?) p.(Arg32His) Parent #1 - likely pathogenic g.35821838C>T g.34449540C>T - - KCNE1_000136 - MORL Deafness Variation Database, PubMed: Berge 2008, PubMed: Kapplinger 2009, PubMed: Westenskow 2004, PubMed: Splawski 2000 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Berge 2008, PubMed: Kapplinger 2009, PubMed: Westenskow 2004, PubMed: Splawski 2000 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.106C>T r.(?) p.(Arg36Cys) Unknown - VUS g.35821827G>A g.34449529G>A NM_001127670:c.C106T - KCNE1_000071 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.106C>T r.(?) p.(Arg36Cys) Unknown - VUS g.35821827G>A g.34449529G>A KCNE1(NM_001127670.1):c.106C>T (p.R36C) - KCNE1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107G>A r.(?) p.(Arg36His) Unknown - likely benign g.35821826C>T g.34449528C>T - - KCNE1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.107G>A r.(?) p.(Arg36His) Parent #1 - pathogenic g.35821826C>T g.34449528C>T - - KCNE1_000106 - MORL Deafness Variation Database, PubMed: Napolitano 2005 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Napolitano 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 4 c.109A>G r.(?) p.(Ser37Gly) Parent #1 - VUS g.35821824T>C g.34449526T>C - - KCNE1_000135 - MORL Deafness Variation Database, PubMed: Ng 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Ng 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.111C>T r.(?) p.(Ser37=) Unknown - benign g.35821822G>A g.34449524G>A KCNE1(NM_001127670.1):c.111C>T (p.S37=) - KCNE1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 4 c.112A>G r.(?) p.(Ser38Gly) Unknown - benign g.35821821T>C g.34449523T>C 112G>A (G38S) - KCNE1_000076 - PubMed: Ackerman 2003 - - Germline - - - 0 - DNA SEQ - - - 14661703-con PubMed: Ackerman 2003 305 African American controls - - United States African Americans - 0 - - 110 Johan den Dunnen
-/- 4 c.112A>G r.(?) p.(Ser38Gly) Unknown - benign g.35821821T>C g.34449523T>C 113G>A (G38S) - KCNE1_000076 - PubMed: Ackerman 2003 - - Germline - - - 0 - DNA SEQ - - - 14661723-con PubMed: Ackerman 2003 187 Caucasian controls - - United States European, white - 0 - - 84 Johan den Dunnen
-/- 4 c.112A>G r.(?) p.(Ser38Gly) Unknown - benign g.35821821T>C g.34449523T>C 114G>A (G38S) - KCNE1_000076 - PubMed: Ackerman 2003 - - Germline - - - 0 - DNA SEQ - - - 14661731-con PubMed: Ackerman 2003 134 Asian controls - - United States Asian - 0 - - 22 Johan den Dunnen
-/- 4 c.112A>G r.(?) p.(Ser38Gly) Unknown - benign g.35821821T>C g.34449523T>C 115G>A (G38S) - KCNE1_000076 - PubMed: Ackerman 2003 - - Germline - - - 0 - DNA SEQ - - - 14661738-con PubMed: Ackerman 2003 118 Hispanic controls - - United States Hispanic - 0 - - 16 Johan den Dunnen
-/. - c.112A>G r.(?) p.(Ser38Gly) Unknown - benign g.35821821T>C g.34449523T>C KCNE1(NM_000219.3):c.112A>G (p.S38G), KCNE1B(NM_001330065.1):c.121A>G (p.S41G) - KCNE1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.112A>G r.(?) p.(Ser38Gly) Unknown - benign g.35821821T>C g.34449523T>C KCNE1(NM_000219.3):c.112A>G (p.S38G), KCNE1B(NM_001330065.1):c.121A>G (p.S41G) - KCNE1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.112A>G r.(?) p.(Ser38Gly) Unknown - benign g.35821821T>C g.34449523T>C KCNE1(NM_000219.3):c.112A>G (p.S38G), KCNE1B(NM_001330065.1):c.121A>G (p.S41G) - KCNE1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.112A>G r.(?) p.(Ser38Gly) Unknown - benign g.35821821T>C g.34449523T>C KCNE1(NM_000219.3):c.112A>G (p.S38G), KCNE1B(NM_001330065.1):c.121A>G (p.S41G) - KCNE1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 4 c.115G>A r.(?) p.(Asp39Asn) Parent #1 - benign g.35821818C>T g.34449520C>T - - KCNE1_000134 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Abitbol 1999 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.117C>T r.(?) p.(Asp39=) Unknown - likely benign g.35821816G>A g.34449518G>A - - KCNE1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129G>A r.(?) p.(Glu43=) Unknown - likely benign g.35821804C>T g.34449506C>T - - KCNE1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139G>A r.(?) p.(Val47Ile) Unknown - VUS g.35821794C>T g.34449496C>T KCNE1(NM_001127670.1):c.139G>A (p.V47I) - KCNE1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.139G>T r.(?) p.(Val47Phe) Parent #1 - pathogenic g.35821794C>A g.34449496C>A - - KCNE1_000133 - MORL Deafness Variation Database, PubMed: Bianchi 1999 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Bianchi 1999 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.142C>T r.(?) p.(Leu48Phe) Unknown - VUS g.35821791G>A g.34449493G>A KCNE1(NM_000219.3):c.142C>T (p.L48F), KCNE1(NM_001127670.1):c.142C>T (p.L48F) - KCNE1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.142C>T r.(?) p.(Leu48Phe) Unknown - VUS g.35821791G>A - KCNE1(NM_000219.3):c.142C>T (p.L48F), KCNE1(NM_001127670.1):c.142C>T (p.L48F) - KCNE1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.147G>A r.(?) p.(Met49Ile) Parent #1 - pathogenic g.35821786C>T g.34449488C>T - - KCNE1_000132 - MORL Deafness Variation Database, PubMed: Lieve 2013 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Lieve 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.148G>A r.(?) p.(Val50Ile) Unknown - VUS g.35821785C>T - KCNE1(NM_001127670.1):c.148G>A (p.V50I) - KCNE1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.152_153delinsAT r.(?) p.(Leu51His) Parent #1 - pathogenic g.35821780_35821781delinsAT g.34449482_34449483delinsAT - - KCNE1_000131 - MORL Deafness Variation Database, PubMed: Bianchi 1999 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Bianchi 1999 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.154G>A r.(?) p.(Gly52Arg) Parent #1 - pathogenic g.35821779C>T g.34449481C>T - - KCNE1_000130 - MORL Deafness Variation Database, PubMed: Ma 2003, PubMed: Harmer 2010 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Ma 2003, PubMed: Harmer 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/- 4 c.155G>C r.(?) p.(Gly52Ala) Unknown - benign g.35821778C>G g.34449480C>G - - KCNE1_000075 - PubMed: Ackerman 2003 - - Germline - 1/305 controls - 0 - DNA SEQ - - - 14661704-con PubMed: Ackerman 2003 305 African American controls - - United States African Americans - 0 - - 1 Johan den Dunnen
+/+ 4 c.158T>C r.(?) p.(Phe53Ser) Parent #1 - pathogenic g.35821775A>G g.34449477A>G - - KCNE1_000129 - MORL Deafness Variation Database, PubMed: Napolitano 2005 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Napolitano 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 4 c.160T>G r.(?) p.(Phe54Val) Parent #1 - likely pathogenic g.35821773A>C g.34449475A>C - - KCNE1_000128 - MORL Deafness Variation Database, PubMed: Liu 2013 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Liu 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.162C>T r.(?) p.(Phe54=) Unknown - benign g.35821771G>A g.34449473G>A KCNE1(NM_000219.3):c.162C>T (p.F54=) - KCNE1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.162C>T r.(?) p.(Phe54=) Unknown - likely benign g.35821771G>A g.34449473G>A KCNE1(NM_000219.3):c.162C>T (p.F54=) - KCNE1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162C>T r.(?) p.(Phe54=) Unknown - likely benign g.35821771G>A g.34449473G>A KCNE1(NM_000219.3):c.162C>T (p.F54=) - KCNE1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163G>A r.(?) p.(Gly55Ser) Unknown - likely benign g.35821770C>T g.34449472C>T - - KCNE1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.163G>A r.(?) p.(Gly55Ser) Parent #1 - pathogenic g.35821770C>T g.34449472C>T - - KCNE1_000104 - MORL Deafness Variation Database, PubMed: Kapplinger 2009, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009, PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.163G>A r.(?) p.(Gly55Ser) Parent #1 - VUS g.35821770C>T g.34449472C>T - - KCNE1_000104 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199473644 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
+/+ 4 c.172A>C r.(?) p.(Thr58Pro) Parent #1 - pathogenic g.35821761T>G g.34449463T>G - - KCNE1_000127 - MORL Deafness Variation Database, PubMed: Tyson 1997, PubMed: Kapplinger 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Tyson 1997, PubMed: Kapplinger 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.172_177delinsCCCCCT r.(?) p.(Thr58_Leu59delinsProPro) Parent #1 - pathogenic g.35821756_35821761delinsAGGGGG g.34449458_34449463delinsAGGGGG - - KCNE1_000125 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Tyson 1997, PubMed: Huang 2001 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Tranebjærg 1993, PubMed: Tyson 1997, PubMed: Huang 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.174C>G r.(?) p.(Thr58=) Unknown - benign g.35821759G>C g.34449461G>C KCNE1(NM_000219.3):c.174C>G (p.T58=), KCNE1(NM_001127670.1):c.174C>G (p.T58=) - KCNE1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>G r.(?) p.(Thr58=) Unknown - likely benign g.35821759G>C g.34449461G>C KCNE1(NM_000219.3):c.174C>G (p.T58=), KCNE1(NM_001127670.1):c.174C>G (p.T58=) - KCNE1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.174C>G r.(=) p.(=) Parent #1 - likely benign g.35821759G>C g.34449461G>C - - KCNE1_000090 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.174C>G r.(?) p.(Thr58=) Unknown - likely benign g.35821759G>C - KCNE1(NM_000219.3):c.174C>G (p.T58=), KCNE1(NM_001127670.1):c.174C>G (p.T58=) - KCNE1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.176T>C r.(?) p.(Leu59Pro) Parent #1 - pathogenic g.35821757A>G g.34449459A>G - - KCNE1_000126 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.179G>A r.(?) p.(Gly60Asp) Parent #1 - pathogenic g.35821754C>T g.34449456C>T - - KCNE1_000124 - MORL Deafness Variation Database, PubMed: Olesen 2012 - - SUMMARY record - - - 0 - DNA ? - - ATFB - PubMed: Olesen 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.199C>T r.(?) p.(Arg67Cys) Parent #1 - pathogenic g.35821734G>A g.34449436G>A - - KCNE1_000123 - MORL Deafness Variation Database, PubMed: Kapplinger 2009, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009, PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.200G>A r.(?) p.(Arg67His) Unknown - VUS g.35821733C>T g.34449435C>T KCNE1(NM_000219.3):c.200G>A (p.R67H) - KCNE1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.200G>A r.(?) p.(Arg67His) Parent #1 - pathogenic g.35821733C>T g.34449435C>T - - KCNE1_000080 - MORL Deafness Variation Database, PubMed: Priori 2013, PubMed: Kapplinger 2009, PubMed: Amendola 2015 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Priori 2013, PubMed: Kapplinger 2009, PubMed: Amendola 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 4 c.202T>A r.(?) p.(Ser68Thr) Parent #1 - VUS g.35821731A>T g.34449433A>T - - KCNE1_000122 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Abitbol 1999 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/- 4 c.206A>G r.(?) p.(Lys69Arg) Unknown - benign g.35821727T>C g.34449429T>C - - KCNE1_000074 - PubMed: Ackerman 2003 - - Germline - 1/305 controls - 0 - DNA SEQ - - - 14661705-con PubMed: Ackerman 2003 305 African American controls - - United States African Americans - 0 - - 1 Johan den Dunnen
-?/-? 4 c.206A>G r.(?) p.(Lys69Arg) Parent #1 - likely benign g.35821727T>C g.34449429T>C - - KCNE1_000074 - MORL Deafness Variation Database, PubMed: Ackerman 2003, PubMed: Ng 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Ackerman 2003, PubMed: Ng 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.209A>T r.(?) p.(Lys70Met) Parent #1 - pathogenic g.35821724T>A g.34449426T>A - - KCNE1_000121 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.210G>C r.(?) p.(Lys70Asn) Parent #1 - pathogenic g.35821723C>G g.34449425C>G - - KCNE1_000120 - MORL Deafness Variation Database, PubMed: Lai 2005 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Lai 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/- 4 c.220T>G r.(?) p.(Ser74Ala) Parent #1 - benign g.35821713A>C g.34449415A>C - - KCNE1_000119 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Abitbol 1999 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.221C>T r.(?) p.(Ser74Leu) Parent #1 - pathogenic g.35821712G>A g.34449414G>A - - KCNE1_000118 - MORL Deafness Variation Database, PubMed: Alders 1993, PubMed: Splawski 1997, PubMed: Westenskow 2004, PubMed: Harmer 2010 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Alders 1993, PubMed: Splawski 1997, PubMed: Westenskow 2004, PubMed: Harmer 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.226G>A r.(?) p.(Asp76Asn) Unknown - pathogenic g.35821707C>T g.34449409C>T KCNE1(NM_000219.3):c.226G>A (p.D76N) - KCNE1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.226G>A r.(?) p.(Asp76Asn) Parent #1 - pathogenic g.35821707C>T g.34449409C>T - - KCNE1_000079 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Alders 1993, PubMed: Duggal 1998, PubMed: Schulze-Bahr 1997, PubMed: Tyson 1997, PubMed: Abbott 2002 3, PubMed: Tester 2006 9, PubMed: Tester 2005, PubMed: Kurokawa 2003, PubMed: Splawski 1997, PubMed: Kapplinger 2009, PubMed: Amendola 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Tranebjærg 1993, PubMed: Alders 1993, PubMed: Duggal 1998, PubMed: Schulze-Bahr 1997, PubMed: Tyson 1997, PubMed: Abbott 2002 3, PubMed: Tester 2006 9, PubMed: Tester 2005, PubMed: Kurokawa 2003, PubMed: Splawski 1997, PubMed: Kapplinger 2009, PubMed: Amendola 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.226G>A r.(?) p.(Asp76Asn) Unknown - pathogenic g.35821707C>T - KCNE1(NM_000219.3):c.226G>A (p.D76N) - KCNE1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.227_229delinsTCTA r.(?) p.(Asp76Valfs*35) Parent #1 - pathogenic g.35821704_35821706delinsTAGA g.34449406_34449408delinsTAGA - - KCNE1_000117 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/- 4 c.235A>G r.(?) p.(Asn79Asp) Parent #1 - benign g.35821698T>C g.34449400T>C - - KCNE1_000116 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Abitbol 1999 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.237C>T r.(?) p.(Asn79=) Unknown - likely benign g.35821696G>A g.34449398G>A - - KCNE1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.238G>A r.(?) p.(Val80Ile) Unknown - VUS g.35821695C>T g.34449397C>T - - KCNE1_000070 - PubMed: Riuro 2014 - - Germline - - - 0 - DNA SEQ - - LQT-5 - PubMed: Riuro 2014 - - - - - - 0 - - 1 Anna Iglesias
+?/+? 4 c.238G>A r.(?) p.(Val80Ile) Parent #1 - likely pathogenic g.35821695C>T g.34449397C>T - - KCNE1_000070 - MORL Deafness Variation Database, PubMed: Riuró 2015 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Riuró 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.238G>A r.(?) p.(Val80Ile) Unknown - likely benign g.35821695C>T - KCNE1(NM_001127670.1):c.238G>A (p.V80I) - KCNE1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238G>T r.(?) p.(Val80Phe) Unknown - likely benign g.35821695C>A g.34449397C>A KCNE1(NM_000219.3):c.238G>T (p.V80F) - KCNE1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.242A>G r.(?) p.(Tyr81Cys) Parent #1 - pathogenic g.35821691T>C g.34449393T>C - - KCNE1_000114 - MORL Deafness Variation Database, PubMed: Wu 2006, PubMed: Lai 2005 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Wu 2006, PubMed: Lai 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/- 4 c.242A>T r.(?) p.(Tyr81Phe) Parent #1 - benign g.35821691T>A g.34449393T>A - - KCNE1_000115 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Abitbol 1999 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.247G>A r.(?) p.(Glu83Lys) Unknown - VUS g.35821686C>T g.34449388C>T - - KCNE1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.247G>A r.(?) p.(Glu83Lys) Parent #1 - pathogenic g.35821686C>T g.34449388C>T - - KCNE1_000103 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.252C>T r.(?) p.(Ser84=) Unknown - benign g.35821681G>A g.34449383G>A KCNE1(NM_001127670.1):c.252C>T (p.S84=) - KCNE1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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