Unique variants in the KCNE1 gene

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

85 entries on 1 page. Showing entries 1 - 85.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-982063_*517476del r.0? p.0? - pathogenic g.35304067_36866011del - - - CLIC6_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.-685C>T r.(?) p.(=) - benign g.35884633G>A g.34512335G>A - - KCNE1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-577C>T r.(?) p.(=) - benign g.35884525G>A g.34512227G>A - - KCNE1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-253A>G r.(?) p.(=) - likely benign g.35883490T>C g.34511192T>C - - KCNE1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-252G>A r.(?) p.(=) - benign g.35883489C>T g.34511191C>T - - KCNE1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 4 c.-3del r.(=) p.(=) - VUS g.35821935del g.34449637del - - KCNE1_000149 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.4A>T r.(?) p.(Ile2Phe) ACMG VUS g.35821929T>A g.34449631T>A - - KCNE1_000151 - PubMed: Isbister 2020 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.8T>C r.(?) p.(Leu3Pro) - likely benign g.35821925A>G g.34449627A>G - - KCNE1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 4 c.9_12del r.(?) p.(Ser4Thrfs*5) - pathogenic g.35821923_35821926del g.34449625_34449628del - - KCNE1_000148 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.12dup r.(?) p.(Asn5*) - pathogenic g.35821921dup g.34449623dup - - KCNE1_000147 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/-? 1 4 c.18C>G r.(=) p.(=) - likely benign g.35821915G>C g.34449617G>C - - KCNE1_000146 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.20C>T r.(?) p.(Thr7Ile) - pathogenic g.35821913G>A g.34449615G>A - - KCNE1_000145 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Schulze-Bahr 1997 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.23C>T r.(?) p.(Ala8Val) - pathogenic g.35821910G>A g.34449612G>A - - KCNE1_000144 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, ?/. 5 4 c.29C>T r.(?) p.(Thr10Met) - pathogenic, VUS g.35821904G>A g.34449606G>A KCNE1(NM_001127670.1):c.29C>T (p.T10M) - KCNE1_000096 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020, 1 more item - rs144917638 CLASSIFICATION record, Germline, SUMMARY record - 4/2793 individuals - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, Mohammed Faruq
-/. 1 - c.30G>A r.(?) p.(Thr10=) - benign g.35821903C>T g.34449605C>T - - KCNE1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/-? 1 4 c.30G>T r.(=) p.(=) - likely benign g.35821903C>A g.34449605C>A - - KCNE1_000143 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.47T>C r.(?) p.(Leu16Pro) - pathogenic g.35821886A>G g.34449588A>G - - KCNE1_000142 - MORL Deafness Variation Database, PubMed: Yoshinaga 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.49T>C r.(?) p.(Trp17Arg) - 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 - - - - - VKGL-NL_AMC
+/+ 1 4 c.50G>A r.(?) p.(Trp17*) - pathogenic g.35821883C>T g.34449585C>T - - KCNE1_000141 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.59C>T r.(?) p.(Thr20Ile) - pathogenic g.35821874G>A g.34449576G>A - - KCNE1_000140 - MORL Deafness Variation Database, PubMed: Millat 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.74G>T r.(?) p.(Gly25Val) - pathogenic g.35821859C>A g.34449561C>A - - KCNE1_000139 - MORL Deafness Variation Database, PubMed: Olesen 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.83C>T r.(?) p.(Ser28Leu) - pathogenic g.35821850G>A g.34449552G>A - - KCNE1_000138 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/., -?/. 4 - c.84G>A r.(?) p.(Ser28=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.85G>A r.(?) p.(Gly29Ser) - VUS g.35821848C>T g.34449550C>T - - KCNE1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 4 c.94C>T r.(?) p.(Arg32Cys) - pathogenic g.35821839G>A g.34449541G>A - - KCNE1_000137 - MORL Deafness Variation Database, PubMed: McGorrian 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/+? 1 4 c.95G>A r.(?) p.(Arg32His) - likely pathogenic g.35821838C>T g.34449540C>T - - KCNE1_000136 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 2 - c.106C>T r.(?) p.(Arg36Cys) - VUS g.35821827G>A g.34449529G>A KCNE1(NM_001127670.1):c.106C>T (p.R36C), NM_001127670:c.C106T - KCNE1_000071 VKGL data sharing initiative Nederland PubMed: Lopes 2013, Journal: Lopes 2013 - - CLASSIFICATION record, Germline - 1/223 cases HCM - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/+, -?/. 2 4 c.107G>A r.(?) p.(Arg36His) - likely benign, pathogenic g.35821826C>T g.34449528C>T - - KCNE1_000106 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Napolitano 2005 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
?/? 1 4 c.109A>G r.(?) p.(Ser37Gly) - VUS g.35821824T>C g.34449526T>C - - KCNE1_000135 - MORL Deafness Variation Database, PubMed: Ng 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. 1 - c.111C>T r.(?) p.(Ser37=) - 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 - - - - - VKGL-NL_AMC
-/-, -/. 8 4 c.112A>G r.(?) p.(Ser38Gly) - benign g.35821821T>C g.34449523T>C 112G>A (G38S), 113G>A (G38S), 114G>A (G38S), 115G>A (G38S), 1 more item - KCNE1_000076 VKGL data sharing initiative Nederland PubMed: Ackerman 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/- 1 4 c.115G>A r.(?) p.(Asp39Asn) - benign g.35821818C>T g.34449520C>T - - KCNE1_000134 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.117C>T r.(?) p.(Asp39=) - likely benign g.35821816G>A g.34449518G>A - - KCNE1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.129G>A r.(?) p.(Glu43=) - likely benign g.35821804C>T g.34449506C>T - - KCNE1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.139G>A r.(?) p.(Val47Ile) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 4 c.139G>T r.(?) p.(Val47Phe) - pathogenic g.35821794C>A g.34449496C>A - - KCNE1_000133 - MORL Deafness Variation Database, PubMed: Bianchi 1999 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 2 - c.142C>T r.(?) p.(Leu48Phe) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+ 1 4 c.147G>A r.(?) p.(Met49Ile) - pathogenic g.35821786C>T g.34449488C>T - - KCNE1_000132 - MORL Deafness Variation Database, PubMed: Lieve 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.148G>A r.(?) p.(Val50Ile) - VUS g.35821785C>T - KCNE1(NM_001127670.1):c.148G>A (p.V50I) - KCNE1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 4 c.152_153delinsAT r.(?) p.(Leu51His) - pathogenic g.35821780_35821781delinsAT g.34449482_34449483delinsAT - - KCNE1_000131 - MORL Deafness Variation Database, PubMed: Bianchi 1999 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.154G>A r.(?) p.(Gly52Arg) - pathogenic g.35821779C>T g.34449481C>T - - KCNE1_000130 - MORL Deafness Variation Database, PubMed: Ma 2003, PubMed: Harmer 2010 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/- 1 4 c.155G>C r.(?) p.(Gly52Ala) - benign g.35821778C>G g.34449480C>G - - KCNE1_000075 - PubMed: Ackerman 2003 - - Germline - 1/305 controls - - - Johan den Dunnen
+/+ 1 4 c.158T>C r.(?) p.(Phe53Ser) - pathogenic g.35821775A>G g.34449477A>G - - KCNE1_000129 - MORL Deafness Variation Database, PubMed: Napolitano 2005 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/+? 1 4 c.160T>G r.(?) p.(Phe54Val) - likely pathogenic g.35821773A>C g.34449475A>C - - KCNE1_000128 - MORL Deafness Variation Database, PubMed: Liu 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/., -?/. 3 - c.162C>T r.(?) p.(Phe54=) - benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+, -?/., ?/. 3 4 c.163G>A r.(?) p.(Gly55Ser) - likely benign, pathogenic, VUS g.35821770C>T g.34449472C>T - - KCNE1_000104 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Kapplinger 2009, PubMed: Duzkale 2013, 1 more item - rs199473644 CLASSIFICATION record, Germline, SUMMARY record - 3/2795 individuals - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen, Mohammed Faruq
+/+ 1 4 c.172A>C r.(?) p.(Thr58Pro) - pathogenic g.35821761T>G g.34449463T>G - - KCNE1_000127 - MORL Deafness Variation Database, PubMed: Tyson 1997, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.172_177delinsCCCCCT r.(?) p.(Thr58_Leu59delinsProPro) - pathogenic g.35821756_35821761delinsAGGGGG g.34449458_34449463delinsAGGGGG - - KCNE1_000125 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Tyson 1997, PubMed: Huang 2001 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/., -?/-?, -?/. 4 4 c.174C>G r.(=), r.(?) p.(=), p.(Thr58=) - benign, 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 MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/+ 1 4 c.176T>C r.(?) p.(Leu59Pro) - pathogenic g.35821757A>G g.34449459A>G - - KCNE1_000126 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.179G>A r.(?) p.(Gly60Asp) - pathogenic g.35821754C>T g.34449456C>T - - KCNE1_000124 - MORL Deafness Variation Database, PubMed: Olesen 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.199C>T r.(?) p.(Arg67Cys) - pathogenic g.35821734G>A g.34449436G>A - - KCNE1_000123 - MORL Deafness Variation Database, PubMed: Kapplinger 2009, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, ?/. 2 4 c.200G>A r.(?) p.(Arg67His) - pathogenic, VUS g.35821733C>T g.34449435C>T KCNE1(NM_000219.3):c.200G>A (p.R67H) - KCNE1_000080 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_AMC
?/? 1 4 c.202T>A r.(?) p.(Ser68Thr) - VUS g.35821731A>T g.34449433A>T - - KCNE1_000122 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/-, -?/-? 2 4 c.206A>G r.(?) p.(Lys69Arg) - benign, likely benign g.35821727T>C g.34449429T>C - - KCNE1_000074 - MORL Deafness Variation Database, PubMed: Ackerman 2003, PubMed: Ng 2013, PubMed: Ackerman 2003 - - Germline, SUMMARY record - 1/305 controls - - - Global Variome, with Curator vacancy, Johan den Dunnen
+/+ 1 4 c.209A>T r.(?) p.(Lys70Met) - pathogenic g.35821724T>A g.34449426T>A - - KCNE1_000121 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.210G>C r.(?) p.(Lys70Asn) - pathogenic g.35821723C>G g.34449425C>G - - KCNE1_000120 - MORL Deafness Variation Database, PubMed: Lai 2005 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/- 1 4 c.220T>G r.(?) p.(Ser74Ala) - benign g.35821713A>C g.34449415A>C - - KCNE1_000119 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.221C>T r.(?) p.(Ser74Leu) - pathogenic g.35821712G>A g.34449414G>A - - KCNE1_000118 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +/. 3 4 c.226G>A r.(?) p.(Asp76Asn) - pathogenic g.35821707C>T g.34449409C>T KCNE1(NM_000219.3):c.226G>A (p.D76N) - KCNE1_000079 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht, VKGL-NL_AMC
+/+ 1 4 c.227_229delinsTCTA r.(?) p.(Asp76Valfs*35) - pathogenic g.35821704_35821706delinsTAGA g.34449406_34449408delinsTAGA - - KCNE1_000117 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/- 1 4 c.235A>G r.(?) p.(Asn79Asp) - benign g.35821698T>C g.34449400T>C - - KCNE1_000116 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.237C>T r.(?) p.(Asn79=) - likely benign g.35821696G>A g.34449398G>A - - KCNE1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+?, -?/., ?/? 3 3, 4 c.238G>A r.(?) p.(Val80Ile) - likely benign, likely pathogenic, VUS g.35821695C>T g.34449397C>T KCNE1(NM_001127670.1):c.238G>A (p.V80I) - KCNE1_000070 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Riuró 2015, PubMed: Riuro 2014 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Anna Iglesias, VKGL-NL_Rotterdam
-?/. 1 - c.238G>T r.(?) p.(Val80Phe) - 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 - - - - - VKGL-NL_AMC
+/+ 1 4 c.242A>G r.(?) p.(Tyr81Cys) - pathogenic g.35821691T>C g.34449393T>C - - KCNE1_000114 - MORL Deafness Variation Database, PubMed: Wu 2006, PubMed: Lai 2005 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/- 1 4 c.242A>T r.(?) p.(Tyr81Phe) - benign g.35821691T>A g.34449393T>A - - KCNE1_000115 - MORL Deafness Variation Database, PubMed: Abitbol 1999 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, ?/. 2 4 c.247G>A r.(?) p.(Glu83Lys) - pathogenic, VUS g.35821686C>T g.34449388C>T - - KCNE1_000103 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
-/., -?/. 2 - c.252C>T r.(?) p.(Ser84=) - benign, likely 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/?, -/-, -?/? 6 4 c.253G>A r.(?) p.(Asp85Asn) - benign, likely benign, likely pathogenic g.35821680C>T g.34449382C>T Asp85Asn - KCNE1_000002 modulator, reported as associated with a QT prolongation PubMed: Ackerman 2003, PubMed: Riuro 2014 - - Germline, Unknown yes 1/134 controls, 2/187 controls, 2/305 controls - - - Johan den Dunnen
+/+ 1 4 c.259T>C r.(?) p.(Trp87Arg) - pathogenic g.35821674A>G g.34449376A>G - - KCNE1_000113 - MORL Deafness Variation Database, PubMed: Bianchi 1999, PubMed: Kurokawa 2003 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/. 1 - c.262C>T r.(?) p.(Gln88Ter) - pathogenic g.35821671G>A g.34449373G>A - - KCNE1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 4 c.273C>A r.(?) p.(Asp91Glu) - likely pathogenic g.35821660G>T g.34449362G>T - - KCNE1_000112 - MORL Deafness Variation Database, PubMed: Hedley 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.277G>A r.(?) p.(Ala93Thr) - pathogenic g.35821656C>T g.34449358C>T - - KCNE1_000111 - MORL Deafness Variation Database, PubMed: Christiansen 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +?/. 2 4 c.292C>T r.(?) p.(Arg98Trp) - likely pathogenic, pathogenic g.35821641G>A g.34449343G>A - - KCNE1_000088 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
?/. 1 - c.314C>T r.(?) p.(Ser105Leu) - VUS g.35821619G>A g.34449321G>A NM_001127670:c.C314T - KCNE1_000072 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
+/+, -/- 2 4 c.325G>A r.(?) p.(Val109Ile) - benign, pathogenic g.35821608C>T g.34449310C>T - - KCNE1_000073 - PubMed: Ackerman 2003, 1 more item - - Germline, SUMMARY record - 1/305 controls - - - Global Variome, with Curator vacancy, Johan den Dunnen
+/+ 1 4 c.349C>T r.(?) p.(Gln117*) - pathogenic g.35821584G>A g.34449286G>A - - KCNE1_000110 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.359C>T r.(?) p.(Thr120Ile) - likely benign g.35821574G>A g.34449276G>A - - KCNE1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, -?/., ?/. 3 4 c.374C>T r.(?) p.(Thr125Met) - likely benign, pathogenic, VUS g.35821559G>A g.34449261G>A KCNE1(NM_001127670.1):c.374C>T (p.T125M) - KCNE1_000087 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020, 1 more item - rs142511345 CLASSIFICATION record, Germline, SUMMARY record - 1/2795 individuals - - - Global Variome, with Curator vacancy, VKGL-NL_AMC, Mohammed Faruq
+/+ 1 4 c.379C>A r.(?) p.(Pro127Thr) - pathogenic g.35821554G>T g.34449256G>T - - KCNE1_000109 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.*10C>A r.(=) p.(=) - likely benign g.35821533G>T g.34449235G>T KCNE1(NM_001127670.1):c.*10C>A - KCNE1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*124A>G r.(=) p.(=) - benign g.35821419T>C g.34449121T>C - - KCNE1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*132A>G r.(=) p.(=) - benign g.35821411T>C g.34449113T>C - - KCNE1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.*2098T>C r.(=) p.(=) - likely benign g.35819445A>G g.34447147A>G - - KCNE1_000150 2 homozygous; Clinindb (India), 97 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41312993 Germline - 2/2795 individuals, 97/2795 individuals - - - Mohammed Faruq
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