Full data view for gene KCNJ2

Information The variants shown are described using the NM_000891.2 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

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Gender     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-158_-157insGTAGTCAGA likely benign r.(?) p.(=) Unknown g.68171023_68171024insGTAGTCAGA - - - KCNJ2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2C>T likely benign r.(?) p.(=) Unknown g.68171179C>T - KCNJ2(NM_000891.2):c.-2C>T - KCNJ2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.283-_294+del - r.(?) p.(Ser95_Phe98del) Parent #1 g.? - - - KCNJ2_000019 M1, buried residue, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking) PubMed: Plaster 2001 - - Germline - 1/16 ATS families - 0 - DNA SSCA, PCRms - - Andersen Tawil syndrome - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 3328 F ? United States - >26y 0 - - 1 Ikuko Takeda
+/? 2 c.940-_945+del - r.(?) p.(Ser314_Tyr315del) Parent #1 g.? - - - KCNJ2_000059 G-loop in cytoplasmic, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking), golgi export motif PubMed: Yoon 2006 PubMed: Plaster 2001 - - De novo - 1/16 ATS families - 0 - DNA SSCA, PCRms - - Andersen Tawil syndrome - PubMed: Yoon 2006 PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / kindred5768 F ? United States Cacasian >12y 0 - - 1 Ikuko Takeda
?/? 2 c.118C>T - r.(?) p.(Arg40*) Parent #1 g.68171298C>T - - - KCNJ2_000002 cytoplamic, N-terminus PubMed: Kuramoto 2012 - - Unknown - - - 0 - DNA DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Kuramoto 2012 cardiac abnormalities / dysmorphic features F ? Japan - >15y 0 - - 1 Ikuko Takeda
?/. - c.146A>G VUS r.(?) p.(Lys49Arg) Unknown g.68171326A>G - - - KCNJ2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.161G>T - r.(?) p.(Cys54Phe) Parent #1 g.68171341G>T - - - KCNJ2_000003 cytoplasmic PubMed: Bendahhou 2007 - - Germline - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Bendahhou 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / the brother and the father are nonpenetrace / 2 mutation carrers M ? France - >19y 0 - - 1 Ikuko Takeda
-/. - c.174C>T benign r.(?) p.(=) Unknown g.68171354C>T - KCNJ2(NM_000891.2):c.174C>T (p.F58=) - KCNJ2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.199C>T - r.(?) p.(Arg67Trp) Parent #1 g.68171379C>T - - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Andelfinger 2002 - - Germline - 41/77 in the family - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Andelfinger 2002 cardiac abnormalities / 9 is non-penetrance F ? United States caucasian >13y 0 - - 41 Ikuko Takeda
+/? 2 c.199C>T - r.(?) p.(Arg67Trp) Parent #1 g.68171379C>T - - - KCNJ2_000004 KJ-01, PIP2 binding, cytoplasmic PubMed: Haruna 2007 - - Germline - - - 0 - DNA SSCA, DHPLC - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / KJ-01 F ? Japan Japanese >30y 0 - - 3 Ikuko Takeda
+/? 2 c.199C>T - r.(?) p.(Arg67Trp) Parent #1 g.68171379C>T - - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Donaldson 2003 - - De novo - 2/17 ATS probands - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7908 M ? United States - - 0 - - 1 Ikuko Takeda
+/? 2 c.199C>T - r.(?) p.(Arg67Trp) Parent #1 g.68171379C>T - - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Donaldson 2003 - - Unknown - 2/17 ATS probands - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred8636 M ? United States - - 0 - - 1 Ikuko Takeda
+/? 2 c.199C>T - r.(?) p.(Arg67Trp) Parent #1 g.68171379C>T - - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Davies 2005 - - De novo - 2/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >25y 0 - - 1 Ikuko Takeda
+/? 2 c.199C>T - r.(?) p.(Arg67Trp) Parent #1 g.68171379C>T - - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Davies 2005 - - Germline - 2/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >10y 0 - - 4 Ikuko Takeda
+/? 2 c.199C>T - r.(?) p.(Arg67Trp) Parent #1 g.68171379C>T - - - KCNJ2_000004 PIP2 binding, cytoplasmic PubMed: Kimura 2012 - - Unknown - - - 0 - DNA DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Kimura 2012 periodic paralysis M ? Japan - >24y 0 - - 1 Ikuko Takeda
+?/? 2 c.200G>A - r.(?) p.(Arg67Gln) Parent #1 g.68171380G>A - - - KCNJ2_000005 PIP2 binding, no dominant negative effect when co-expressed with WT, cytoplasmic / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS) PubMed: Eckhardt 2007 - - Unknown - 1/541 patients* - 0 - DNA PCR, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Eckhardt 2007 cardiac abnormalities F ? United States Caucasian - 0 - - 1 Ikuko Takeda
+/? 2 c.200G>A - r.(?) p.(Arg67Gln) Parent #1 g.68171380G>A - - - KCNJ2_000005 Kindred 323, PIP2 binding, trafficking defect, dominant negative effect PubMed: Haruna 2007 - - Germline - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / dysmorphic features / Kindred 323 F ? Japan Japanese >13y 0 - - 1 Ikuko Takeda
+?/. - c.200G>A likely pathogenic r.(?) p.(Arg67Gln) Unknown g.68171380G>A - - - KCNJ2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 2 c.202T>G - r.(?) p.(Tyr68Asp) Parent #1 g.68171382T>G - - - KCNJ2_000006 cytoplasmic, slide helix PubMed: Davies 2005 - - Germline - 1/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >6y 0 - - 2 Ikuko Takeda
?/. - c.208G>T VUS r.(?) p.(Ala70Ser) Unknown g.68171388G>T - KCNJ2(NM_000891.2):c.208G>T (p.A70S) - KCNJ2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.211G>A - r.(?) p.(Asp71Asn) Parent #1 g.68171391G>A - - - KCNJ2_000007 cytoplasmic, slide helix PubMed: Donaldson 2003 - - De novo - 1/17 ATS probands - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7770 F ? United States - - 0 - - 1 Ikuko Takeda
+/? 2 c.211G>T - r.(?) p.(Asp71Tyr) Parent #1 g.68171391G>T - - - KCNJ2_000008 cytoplasmic, slide helix PubMed: Marrus 2011 - - Unknown - - - 0 - ? ? - - Andersen Tawil syndrome - PubMed: Marrus 2011 cardiac abnormalities / periodic paralysis / dysmorphic features M ? United States - >28y 0 - - 1 Ikuko Takeda
+/? 2 c.212A>T - r.(?) p.(Asp71Val) Parent #1 g.68171392A>T - - - KCNJ2_000009 cytoplasmic, slide helix, dominant negative PubMed: Plaster 2001 - - Germline - 1/16 ATS families - 0 - DNA PCRms - - Andersen Tawil syndrome - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 4415 F ? United States - >11y 0 - - 10 Ikuko Takeda
?/. - c.213C>A VUS r.(?) p.(Asp71Glu) Unknown g.68171393C>A - KCNJ2(NM_000891.2):c.213C>A (p.D71E) - KCNJ2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.220A>G - r.(?) p.(Thr74Ala) Parent #1 g.68171400A>G - - - KCNJ2_000010 slide helix, channel gating, PIP2 sensitivity PubMed: Ballester 2006 - - Germline - - - 0 - DNA SEQ, ARMS - - Andersen Tawil syndrome - PubMed: Ballester 2006 cardiac abnormalities / periodic paralysis / dysmorphic features M ? United States Caucasian >10y 0 - - 2 Ikuko Takeda
+/? 2 c.223A>G - r.(?) p.(Thr75Ala) Parent #1 g.68171403A>G - - - KCNJ2_000011 cytoplasmic, slide helix, dominant negative effect PubMed: Fodstad 2004 - - Germline - 1/188 LQT patients - 0 - DNA DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Fodstad 2004 cardiac abnormalities / periodic paralysis F ? Finland - >20y 0 - - 7 Ikuko Takeda
+/? 2 c.224C>G - r.(?) p.(Thr75Arg) Parent #1 g.68171404C>G - - - KCNJ2_000012 cytoplasmic, slide helix PubMed: Yoon 2006 - - Unknown - - - 0 - ? ? - - Andersen Tawil syndrome - PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States caucasian >25y 0 - - 1 Ikuko Takeda
+/? 2 c.224C>G - r.(?) p.(Thr75Arg) Parent #1 g.68171404C>G - - - KCNJ2_000012 cytoplasmic, slide helix PubMed: Donaldson 2003 - - De novo - 1/17 ATS probands - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7300 F ? United States - - 0 - - 1 Ikuko Takeda
+/? 2 c.224C>G - r.(?) p.(Thr75Arg) Parent #1 g.68171404C>G - - - KCNJ2_000012 cytoplasmic, slide helix PubMed: Lu 2006 - - Germline - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Lu 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States - >15y 0 - - 3 Ikuko Takeda
+/. - c.224C>G pathogenic r.(?) p.(Thr75Arg) Unknown g.68171404C>G - - - KCNJ2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.224C>T - r.(?) p.(Thy75Met) Parent #1 g.68171404C>T - - - KCNJ2_000013 cytoplasmic region, slide helix, N-terminus, defective tafficking, no dominant negative effect PubMed: Tani 2007 - - Germline - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Tani 2007 cardiac abnormalities F ? Japan Japanese >35y 0 - - 2 Ikuko Takeda
+/? 2 c.224C>T - r.(?) p.(Thy75Met) Parent #1 g.68171404C>T - - - KCNJ2_000013 cytoplasmic region, slide helix, N-terminus, dominant negative effect, normal trafficking / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS) PubMed: Eckhardt 2007 - - Unknown - 1/541 patients* - 0 - DNA PCR, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Eckhardt 2007 cardiac abnormalities / periodic paralysis F ? United States Caucasian - 0 - - 1 Ikuko Takeda
+/? 2 c.224C>T - r.(?) p.(Thy75Met) Parent #1 g.68171404C>T - - - KCNJ2_000013 cytoplasmic, slide helix, dominant negative effect PubMed: Davies 2005 - - Unknown - 1/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features M ? United Kingdom (Great Britain) - >19y 0 - - 1 Ikuko Takeda
+/. - c.224C>T pathogenic r.(?) p.(Thr75Met) Unknown g.68171404C>T - KCNJ2(NM_000891.2):c.224C>T (p.T75M) - KCNJ2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.232G>T - r.(?) p.(Asp78Tyr) Parent #1 g.68171412G>T - - - KCNJ2_000014 cytoplasmic, slide helix PubMed: Yoon 2006 - - Unknown - - - 0 - DNA ? - - Andersen Tawil syndrome - PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States Caucasian >38y 0 - - 2 Ikuko Takeda
+/? 2 c.233A>G - r.(?) p.(Asp78Gly) Parent #1 g.68171413A>G - - - KCNJ2_000015 cytoplasmic, slide helix PubMed: Davies 2005 - - Unknown - 1/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >17y 0 - - 1 Ikuko Takeda
+/? 2 c.244C>T - r.(?) p.(Arg82Trp) Parent #1 g.68171424C>T - - - KCNJ2_000016 M1 / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS) PubMed: Eckhardt 2007 - - Unknown - 1/541 patients* - 0 - DNA PCR, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Eckhardt 2007 cardiac abnormalities F ? United States Caucasian - 0 - - 1 Ikuko Takeda
+/? 2 c.244C>T - r.(?) p.(Arg82Trp) Parent #1 g.68171424C>T - - - KCNJ2_000016 M1 / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients PubMed: Tester 2006 - - Unknown - 2/541 patients* - 0 - DNA PCR, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Tester 2006 cardiac abnormalities F ? United States - >14y 0 - - 1 Ikuko Takeda
+/? 2 c.244C>T - r.(?) p.(Arg82Trp) Parent #1 g.68171424C>T - - - KCNJ2_000016 M1 / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients PubMed: Tester 2006 - - Unknown - 2/541 patients* - 0 - DNA PCR, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Tester 2006 cardiac abnormalities F ? United States - >9y 0 - - 1 Ikuko Takeda
+/? 2 c.244C>T - r.(?) p.(Arg82Trp) Parent #1 g.68171424C>T - - - KCNJ2_000016 M1 PubMed: Kimura 2012 - - Unknown - - - 0 - DNA DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Kimura 2012 cardiac abnormalities F ? Japan - >29y 0 - - 1 Ikuko Takeda
+/? 2 c.244C>T - r.(?) p.(Arg82Trp) Parent #1 g.68171424C>T - - - KCNJ2_000016 M1, KCNH2 P1093L PubMed: Kuramoto 2012 - - Unknown - - - 0 - DNA DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Kuramoto 2012 cardiac abnormalities / dysmorphic features / KCNH2 P1093L M ? Japan - >11y 0 - - 1 Ikuko Takeda
+/? 2 c.245G>A - r.(?) p.(Arg82Gln) Parent #1 g.68171425G>A - - - KCNJ2_000017 M1 PubMed: Davies 2005 - - Germline - 1/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 periodic paralysis / dysmorphic features / his mother was carrer / his brother has periodic paralysis M ? United Kingdom (Great Britain) - >15y 0 - - 1 Ikuko Takeda
+/? 2 c.245G>A - r.(?) p.(Arg82Gln) Parent #1 g.68171425G>A - - - KCNJ2_000017 M1 PubMed: Kimura 2012 - - Unknown - - - 0 - DNA DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Kimura 2012 cardiac abnormalities F ? Japan - >46y 0 - - 1 Ikuko Takeda
?/. - c.248G>T VUS r.(?) p.(Trp83Leu) Unknown g.68171428G>T - KCNJ2(NM_000891.2):c.248G>T (p.W83L) - KCNJ2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.277G>A - r.(?) p.(Ile93Val) Parent #1 g.68171457G>A - - - KCNJ2_000018 M1 PubMed: Xia 2005 - - Germline - 1/30 AF families - 0 - DNA SEQ - - ATFB-9 - PubMed: Xia 2005 cardiac abnormalities M ? China Chinese >59y 0 - - 7 Ikuko Takeda
+?/? 2 c.281T>C - r.(?) p.(Leu94Pro) Both (homozygous) g.68171461T>C - - - KCNJ2_000001 - - - - Germline - - - 0 - DNA SEQ - - Andersen Tawil syndrome - - - M ? Japan Asian >63y 0 - - 1 Ikuko Takeda
+/? 2 c.301T>C - r.(?) p.(Cys101Arg) Parent #1 g.68171481T>C - - - KCNJ2_000020 M1, lipid-facing PubMed: Chun 2004 - - Unknown - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Chun 2004 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States - >16y 0 - - 1 Ikuko Takeda
+/? 2 c.301T>C - r.(?) p.(Cys101Arg) Parent #1 g.68171481T>C - - - KCNJ2_000020 M1, lipid-facing PubMed: Zhang 2005 PubMed: Ballester 2006 - - Unknown - - - 0 - DNA ? - - Andersen Tawil syndrome - PubMed: Zhang 2005 PubMed: Ballester 2006 cardiac abnormalities / periodic paralysis / dysmorphic features ? ? United States - - 0 - - 1 Ikuko Takeda
+?/? 2 c.368T>G - r.(?) p.(Val123Gly) Parent #1 g.68171548T>G - - - KCNJ2_000021 pore region PubMed: Davies 2005 - - Unknown - 1/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 periodic paralysis / dysmorphic features / he was one of twins. M ? United Kingdom (Great Britain) - >18y 0 - - 1 Ikuko Takeda
+/? 2 c.407C>T - r.(?) p.(Ser136Phe) Parent #1 g.68171587C>T - - - KCNJ2_000022 pore helix PubMed: Plaster 2001 - - Unknown - 1/16 ATS families - 0 - DNA PCRms - - Andersen Tawil syndrome - PubMed: Plaster 2001 periodic paralysis / dysmorphic features / Kindred6634 F ? United States - >45y 0 - - 1 Ikuko Takeda
+/? 2 c.430G>A - r.(?) p.(Gly144Ser) Parent #1 g.68171610G>A - - - KCNJ2_000023 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Plaster 2001 - - De novo - 1/16 ATS families - 0 - DNA SSCA - - Andersen Tawil syndrome - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred3856 F ? United States - >23y 0 - - 1 Ikuko Takeda
+/? 2 c.430G>A - r.(?) p.(Gly144Ser) Parent #1 g.68171610G>A - - - KCNJ2_000023 G-loop in cytoplasmic, pore region, selectivity filter residues GYG, heterozygous for a KCNQ1 mutation (c.1022C>T PubMed: Haruna 2007 - - Germline - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 024, his son had seizure, KCNQ1(A341V) F ? Japan Japanese >44y 0 - - 2 Ikuko Takeda
+/? 2 c.431G>A - r.(?) p.(Gly144Asp) Parent #1 g.68171611G>A - - - KCNJ2_000024 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Kimura 2012 - - Unknown - - - 0 - DNA DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Kimura 2012 cardiac abnormalities F ? Japan - >3y 0 - - 1 Ikuko Takeda
+/? 2 c.431G>A - r.(?) p.(Gly144Asp) Parent #1 g.68171611G>A - - - KCNJ2_000024 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Lim 2010 - - De novo - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Lim 2010 cardiac abnormalities / periodic paralysis / dysmorphic features M ? Korea - >18y 0 - - 1 Ikuko Takeda
+/? 2 c.431G>C - r.(?) p.(Gly144Ala) Parent #1 g.68171611G>C - - - KCNJ2_000025 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Ballester 2006 - - Germline - - - 0 - DNA SEQ, ARMS - - Andersen Tawil syndrome - PubMed: Ballester 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? France Hispanic >9y 0 - - 2 Ikuko Takeda
+/? 2 c.436G>A - r.(?) p.(Gly146Ser) Parent #1 g.68171616G>A - - - KCNJ2_000026 G-loop in cytoplasmic, pore region, selectivity filter residues GYG, trafficking defect, dominat negative effect PubMed: Haruna 2007 - - De novo - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Knidred 179 F ? Japan Japanese >28y 0 - - 1 Ikuko Takeda
?/? 2 c.437G>A - r.(?) p.(Gly146Asp) Parent #1 g.68171617G>A - - - KCNJ2_000027 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Yoon 2006 - - Germline - - - 0 - ? ? - - Andersen Tawil syndrome - PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States Caucasian >29y 0 - - 3 Ikuko Takeda
?/? 2 c.437G>A - r.(?) p.(Gly146Asp) Parent #1 g.68171617G>A - - - KCNJ2_000027 G-loop in cytoplasmic, pore region, selectivity filter residues GYG PubMed: Donaldson 2003 - - Germline - 1/17 ATS probands - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Donaldson 2003 dysmorphic features / Kindred8472 F ? United States - - 0 - - 3 Ikuko Takeda
?/? 2 c.437G>C - r.(?) p.(Gly146Ala) Parent #1 g.68171617G>C - - - KCNJ2_000028 G-loop in cytoplasmic, pore region, selectivity filter residues GYG, trafficking defect, dominat negative effect PubMed: Kim 2009 - - De novo - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Kim 2009 periodic paralysis / dysmorphic features M ? Korea Korean >18y 0 - - 1 Ikuko Takeda
+?/? 2 c.461G>A - r.(?) p.(Cys154Tyr) Parent #1 g.68171641G>A - - - KCNJ2_000029 M2, C154 and C122 critical for proper channel folding PubMed: Sacconi 2009 - - Germline - - - 0 - ? ? - - Andersen Tawil syndrome - PubMed: Sacconi 2009 cardiac abnormalities / periodic paralysis / dysmorphic features M ? France - >31y 0 - - 3 Ikuko Takeda
+?/? 2 c.461G>T - r.(?) p.(Cys154Phe) Parent #1 g.68171641G>T - - - KCNJ2_000030 M2, C154 and C122 critical for proper channel folding PubMed: Bendahhou 2005 - - Unknown - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Bendahhou 2005 periodic paralysis / dysmorphic features M ? France - >27y 0 - - 1 Ikuko Takeda
+?/. - c.476T>C likely pathogenic r.(?) p.(Phe159Ser) Unknown g.68171656T>C - - - chr17_007970 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.487_492del - r.(?) p.(Phe163_Glu164del) Parent #1 g.68171667_68171672del - - - KCNJ2_000031 M2, 164; buried residue PubMed: Fodstad 2004 - - De novo - 1/188 LQT patients - 0 - DNA DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Fodstad 2004 cardiac abnormalities F ? Finland - >40y 0 - - 2 Ikuko Takeda
+/? 2 c.514G>A - r.(?) p.(Asp172Asn) Parent #1 g.68171694G>A - - - KCNJ2_000032 M2, pore-lining, control of polyamine-mediated channel gating, rectification PubMed: Priori 2005 PubMed: El Harchi 2009 - - Germline - - - 0 - DNA DHPLC - - SQT-3 - PubMed: Priori 2005 PubMed: El Harchi 2009 cardiac abnormalities F ? Italy - >5y 0 - - 2 Ikuko Takeda
?/. 2 c.532G>A - r.(?) p.(Ala178Thr) Parent #1 g.68171712G>A g.70175571G>A - - KCNJ2_000070 - PubMed: Allegue 2015, Journal: Allegue 2015 - - Germline yes - - 0 - DNA SEQ-NG-S - - BRGDA - PubMed: Allegue 2015, Journal: Allegue 2015 - M - United States Caucasian >66y 0 - - 1 Anna Iglesias
+/? 2 c.557C>T - r.(?) p.(Pro186Leu) Parent #1 g.68171737C>T - - - KCNJ2_000033 cytoplasmic, PKKR motif (186-189) implicated in binding PIP2 PubMed: Tristani 2002 - - Unknown - - - 0 - DNA SSCA, PCRms - - Andersen Tawil syndrome - PubMed: Tristani 2002 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 7246 M ? United States - >18y 0 - - 2 Ikuko Takeda
?/? 2 c.566G>T - r.(?) p.(Arg189Ile) Parent #1 g.68171746G>T - - - KCNJ2_000034 cytoplasmic, PKKR motif, PIP2 binding PubMed: Donaldson, 2003 - - Germline - 1/17 ATS probands - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Donaldson, 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7862 F ? United States - - 0 - - 2 Ikuko Takeda
+/? 2 c.574A>G - r.(?) p.(Thr192Ala) Parent #1 g.68171754A>G - - - KCNJ2_000035 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Ai 2002 - - Germline - - - 0 - DNA SSCA - - Andersen Tawil syndrome - PubMed: Ai 2002 cardiac abnormalities / periodic paralysis M ? Japan Japanese >13y 0 - - 4 Ikuko Takeda
+/? 2 c.574A>G - r.(?) p.(Thr192Ala) Parent #1 g.68171754A>G - - - KCNJ2_000035 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Haruna 2007 - - Germline - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / Kindred 037 M ? Japan Japanese >13y 0 - - 2 Ikuko Takeda
+/? 2 c.574A>G - r.(?) p.(Thr192Ala) Parent #1 g.68171754A>G - - - KCNJ2_000035 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Nagase 2007 - - Unknown - - - 0 - DNA SSCA - - Andersen Tawil syndrome - PubMed: Nagase 2007 cardiac abnormalities / periodic paralysis / dysmorphic features F ? Japan Japanese >19y 0 - - 3 Ikuko Takeda
+/? 2 c.574A>G - r.(?) p.(Thr192Ala) Parent #1 g.68171754A>G - - - KCNJ2_000035 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Nagashima 2010 - - Unknown - - - 0 - ? ? - - Andersen Tawil syndrome - PubMed: Nagashima 2010 cardiac abnormalities / periodic paralysis / dysmorphic features F ? Japan Japanese >23y 0 - - 1 Ikuko Takeda
?/? 2 c.575C>T - r.(?) p.(Thr192Ile) Parent #1 g.68171755C>T - - - KCNJ2_000036 phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain PubMed: Chan 2010 - - Germline - - - 0 - DNA ? - - Andersen Tawil syndrome - PubMed: Chan 2010 periodic paralysis / dysmorphic features F ? Taiwan Taiwanese >35y 0 - - 3 Ikuko Takeda
-?/. - c.597C>T likely benign r.(?) p.(=) Unknown g.68171777C>T - - - chr17_007971 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616G>A VUS r.(?) p.(Gly206Ser) Unknown g.68171796G>A - - - KCNJ2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.631A>C VUS r.(?) p.(Met211Leu) Unknown g.68171811A>C - KCNJ2(NM_000891.2):c.631A>C (p.M211L) - chr17_007972 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.644G>A - r.(?) p.(Gly215Asp) Parent #1 g.68171824G>A - - - KCNJ2_000037 C-terminus, essential for the aassembly of Kir2.1 PubMed: Hosaka 2003 - - Unknown - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Hosaka 2003 cardiac abnormalities / periodic paralysis / dysmorphic features F ? Japan Japanese >34y 0 - - 1 Ikuko Takeda
+/? 2 c.644G>A - r.(?) p.(Gly215Asp) Parent #1 g.68171824G>A - - - KCNJ2_000037 C-terminus, essential for the aassembly of Kir2.1 PubMed: Haruna 2007 - - Unknown - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / N-01 F ? Japan Japanese 34y 0 - - 1 Ikuko Takeda
+/? 2 c.644G>A - r.(?) p.(Gly215Asp) Parent #1 g.68171824G>A - - - KCNJ2_000037 C-terminus, essential for the aassembly of Kir2.1 PubMed: Lim 2010 - - Germline - - - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Lim 2010 cardiac abnormalities / periodic paralysis / dysmorphic features M ? Korea - >11y 0 - - 3 Ikuko Takeda
+/? 2 c.646A>C - r.(?) p.(Asn216His) Parent #1 g.68171826A>C - - - KCNJ2_000038 CD loop of cytosolic domain, affect the sensitivity to cholesterol PubMed: Tristani 2002 - - Unknown - - - 0 - DNA SSCA, PCRms - - Andersen Tawil syndrome - PubMed: Tristani 2002 cardiac abnormalities / Kindred 3442 F ? United States - >21y 0 - - 6 Ikuko Takeda
+/? 2 c.650T>C - r.(?) p.(Leu217Pro) Parent #1 g.68171830T>C - - - KCNJ2_000039 cytoplasmic PubMed: Davies 2005 - - Unknown - 1/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >32y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Lange 2003 PubMed: Yoon 2006 - - Germline - - - 0 - ? ? - - Andersen Tawil syndrome - PubMed: Lange 2003 PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States caucasian >12y 0 - - 2 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop,PIP2 binding, interaction with Thr309 PubMed: Yoon 2006 PubMed: Plaster 2001 - - De novo - 4/16 ATS families - 0 - DNA PCRms - - Andersen Tawil syndrome - PubMed: Yoon 2006 PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2681 F ? United States Caucasian >29y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop,interaction with Thr309 PubMed: Plaster 2001 - - De novo - 4/16 ATS families - 0 - DNA PCRms - - Andersen Tawil syndrome - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6515 M ? United States - >17y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop,PIP2 binding, interaction with Thr309 PubMed: Plaster 2001 - - Unknown - 4/16 ATS families - 0 - DNA PCRms - - Andersen Tawil syndrome - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2401 F ? United States - >35y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 Kindred2679, cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tristani 2002 - - De novo - 4/16 ATS families - 0 - DNA SSCA, PCRms - - Andersen Tawil syndrome - PubMed: Tristani 2002 cardiac abnormalities / Kindred2679 M ? United States - >24y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 Kindred7480, cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tristani 2002 - - Unknown - - - 0 - DNA SSCA, PCRms - - Andersen Tawil syndrome - PubMed: Tristani 2002 cardiac abnormalities / Kindred7480 M ? United States - >10y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Donaldson 2003 - - Germline - 1/17 ATS probands - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7527, father nonpenetrace F ? United States - - 0 - - 2 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Davies 2005 - - Germline - 2/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >15y 0 - - 4 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Davies 2005 - - Unknown - 2/>140 periodic paralysis - 0 - DNA SEQ - - Andersen Tawil syndrome - PubMed: Davies 2005 periodic paralysis / dysmorphic features M ? United Kingdom (Great Britain) - >24y 0 - - 3 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - Germline - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / Kindred 180 F ? Japan Japanese >6y 0 - - 3 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - Germline - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / dysmorphic features / Kindred 240 F ? Japan Japanese >11y 0 - - 3 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - De novo - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 324 M ? Japan Japanese >6y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Weir 2011 - - Germline - - - 0 - DNA ? - - Andersen Tawil syndrome - PubMed: Weir 2011 periodic paralysis / dysmorphic features F ? United States Scottish >34y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Schoonderwoerd 2006 - - Germline - - - 0 - ? SEQ - - Andersen Tawil syndrome - PubMed: Schoonderwoerd 2006 cardiac abnormalities / dysmorphic features F ? Netherlands - >18y 0 - - 3 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Subbiah 2008 - - Unknown - - - 0 - ? ? - - Andersen Tawil syndrome - PubMed: Subbiah 2008 cardiac abnormalities / periodic paralysis F ? Canada - >27y 0 - - 1 Ikuko Takeda
+/? 2 c.652C>T - r.(?) p.(Arg218Trp) Parent #1 g.68171832C>T - - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tengan 2006 - - De novo - - - 0 - ? ? - - Andersen Tawil syndrome - PubMed: Tengan 2006 cardiac abnormalities / periodic paralysis / dysmorphic features M no Brazil - >33y 0 - - 2 Ikuko Takeda
+/. - c.652C>T pathogenic r.(?) p.(Arg218Trp) Unknown g.68171832C>T - - - KCNJ2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.653G>A - r.(?) p.(Arg218Gln) Parent #1 g.68171833G>A - - - KCNJ2_000041 cytoplasmic, CD loop,PIP2 binding, interaction with Thr309 PubMed: Yoon 2006 PubMed: Plaster 2001 - - Germline - 1/16 ATS families - 0 - DNA SSCA, PCRms - - Andersen Tawil syndrome - PubMed: Yoon 2006 PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6562 M ? United States Caucasian >24y 0 - - 1 Ikuko Takeda
+/? 2 c.653G>A - r.(?) p.(Arg218Gln) Parent #1 g.68171833G>A - - - KCNJ2_000041 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - Germline - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 176 F ? Japan Japanese >13y 0 - - 2 Ikuko Takeda
+/? 2 c.653G>A - r.(?) p.(Arg218Gln) Parent #1 g.68171833G>A - - - KCNJ2_000041 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - De novo - - - 0 - DNA SSCA, DHPLC, SEQ - - Andersen Tawil syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 201 F ? Japan Japanese >12y 0 - - 1 Ikuko Takeda
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