All individuals with variants in gene KCNQ1

964 entries on 10 pages. Showing entries 1 - 100.
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Population     

Age/Death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

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00004238 - PubMed: Riuro 2014 - - - - - - 0 - - LQT-1;RWS - 1 1 Anna Iglesias
00004239 - PubMed: Riuro 2014 - - - - - - 0 - - LQT-1;RWS incomplete penetrance 1 1 Anna Iglesias
00004240 - PubMed: Riuro 2014 - - - - - - 0 - - LQT-1;RWS incomplete penetrance, unaffected carrier father 3 1 Anna Iglesias
00004241 - PubMed: Riuro 2014 - - - - - - 0 - - LQT-1;RWS - 1 1 Anna Iglesias
00004253 - PubMed: Riuro 2014 5-generation family, 3 affecteds, 2 unaffected carriers (3985G>A) - - - - - 0 - - LQT-3 incomplete penetrance 1 1 Anna Iglesias
00016929 - PubMed: Riuro 2014 3-generation family, 3 affecteds - - - - - 0 - - LQT - 1 3 Johan den Dunnen
00027197 - PubMed: Kagami 2014 - M no Japan - - 0 - - SRS;RSS karyotype 46XY, birth length 46.5cm (-2.1 SD), birth weight 2.2 kg (-2.7 SD), birth occipitofrontal circumference 32.5cm (-0.7 SD); present height 120.4cm (-2.3 SD), present weight 26.5kg (-0.7 SD), BMI 18.3 (+1.0 SD), present occipitofrontal circumference 51.5cm (-0.9 SD); speech delayed (HP:0000750); small hands (HP:0200055); single palmar crease (HP:0000954); brachydactyly (HP:000156); clinodactyly (HP:0030084); joint hypermobility (HP:0001382); ear abnormality (HP:0000598); irregular teeth (HP:0040079); no precocious puberty (-HP:0000826); no intellectual disability (-HP:0001249); muscular hypotonia (HP:0001252); dysmorphic face (HP:0001999) 6 1 Johan den Dunnen
00027198 - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - 0 - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) SRS;RSS karyotpe 46XX, birth length 36.5cm (-6.0 SD), birth weight 1.2 kg (-4.6 SD), birth occipitofrontal circumference 30.0 cm (-2.0 SD); menarche 8y8m (normal 12.3y +/-1.3y); present height 125.5cm (-1.0 SD), present weight 22.3kg (-1.2 SD), BMI 14.2 (-1.1 SD), present occipitofrontal circumference 50.3cm (-1.5 SD); recurrent otitis media (HP:0000403); small hands (HP:0200055); no single palmar crease (-HP:0000954); no brachydactyly (-HP:000156); clinodactyly (HP:0030084); puberty, precocious (HP:0000826); no intellectual disability (-HP:0001249); no muscular hypotonia (-HP:0001252); dysmorphic face (HP:0001999) 1 1 Johan den Dunnen
00049181 - Fam242 2-generation family, 1M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049182 - Fam1079 3-generation family, 2M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049183 - B1334 2-generation family, 0M, 2F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049184 - B0467 2-generation family, 2M, 2F - - France - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049185 - Fam673 2-generation family, 1M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049186 - Fam740 2-generation family, 1M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049187 - Fam61 2-generation family, 2M, 1F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049188 - Fam1045 2-generation family, 1M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049189 - Fam936 2-generation family, 0M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049190 - B0216 2-generation family, 1M, 2F - - France - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049191 - B0205 2-generation family, 1M, 4F - - France - - 0 - - LQT-1;RWS - 1 5 Hideki Itoh
00049192 - Fam868 3-generation family, 2M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049193 - B1247 2-generation family, 2M, 2F - - France - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049194 - Fam793 2-generation family, 1M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049195 - Fam253_JLN1 3-generation family, 5M, 1F - - Turkey - - 0 - - LQT-1;RWS - 1 6 Hideki Itoh
00049196 - B101 2-generation family, 0M, 2F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049197 - Fam598 2-generation family, 2M, 3F - - Japan - - 0 - - LQT-1;RWS - 1 5 Hideki Itoh
00049198 - Fam64 2-generation family, 0M, 4F - - Japan - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049199 - B0829 2-generation family, 1M, 1F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049200 - B0352 2-generation family, 0M, 2F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049201 - G14995 2-generation family, 4M, 4F - - France - - 0 - - LQT-1;RWS - 1 8 Hideki Itoh
00049202 - 14647 2-generation family, 9M, 7F - - France - - 0 - - LQT-1;RWS - 1 16 Hideki Itoh
00049203 - B0948 2-generation family, 2M, 0F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049204 - B1251 2-generation family, 2M, 1F - - France - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049205 - B0843 2-generation family, 0M, 2F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049206 - Fam933 2-generation family, 1M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049207 - G09918 2-generation family, 1M, 2F - - France - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049208 - B0058 2-generation family, 5M, 3F - - France - - 0 - - LQT-1;RWS - 1 8 Hideki Itoh
00049209 - B0320 2-generation family, 1M, 3F - - France - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049210 - G11269 2-generation family, 0M, 2F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049211 - Fam25 2-generation family, 1M, 1F - - Japan - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049212 - B0016 2-generation family, 1M, 2F - - France - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049213 - G14217_JLN6 2-generation family, 4M, 1F - - France - - 0 - - LQT-1;RWS - 1 5 Hideki Itoh
00049214 - Fam424 3-generation family, 6M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 7 Hideki Itoh
00049215 - B0788 2-generation family, 1M, 1F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049216 - Fam687 2-generation family, 1M, 1F - - Japan - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049217 - P72793 2-generation family, 7M, 3F - - Netherlands - - 0 - - LQT-1;RWS - 1 10 Hideki Itoh
00049218 - M2164 3-generation family, 5M, 6F - - Netherlands - - 0 - - LQT-1;RWS - 1 11 Hideki Itoh
00049219 - P080331 2-generation family, 1M, 2F - - Netherlands - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049220 - Fam932 3-generation family, 2M, 3F - - Germany - - 0 - - LQT-1;RWS - 1 5 Hideki Itoh
00049221 - Fam161 2-generation family, 0M, 2F - - Japan - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049222 - P076454 3-generation family, 4M, 4F - - Netherlands - - 0 - - LQT-1;RWS - 1 8 Hideki Itoh
00049223 - P104.149 2-generation family, 2M, 2F - - Netherlands - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049224 - P104.149B 3-generation family, 0M, 4F - - Netherlands - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049225 - P098.864 2-generation family, 1M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049226 - P104.245 2-generation family, 2M, 1F - - Netherlands - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049227 - Fam1022 2-generation family, 1M, 1F - - Italy - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049228 - Fam373 3-generation family, 4M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 6 Hideki Itoh
00049229 - G2811 2-generation family, 2M, 6F - - France - - 0 - - LQT-1;RWS - 1 8 Hideki Itoh
00049230 - G09368 2-generation family, 0M, 2F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049231 - B0163 2-generation family, 1M, 2F - - France - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049232 - B0189 2-generation family, 5M, 4F - - France - - 0 - - LQT-1;RWS - 1 9 Hideki Itoh
00049233 - Fam54 3-generation family, 8M, 5F - - Germany - - 0 - - LQT-1;RWS - 1 13 Hideki Itoh
00049234 - Fam602 2-generation family, 1M, 1F - - Japan - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049235 - Fam55 2-generation family, 1M, 1F - - Japan - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049236 - Fam641 2-generation family, 1M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049237 - Fam551 2-generation family, 1M, 2F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049238 - Fam132 2-generation family, 3M, 0F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049239 - B0107 2-generation family, 2M, 6F - - France - - 0 - - LQT-1;RWS - 1 8 Hideki Itoh
00049240 - Fam206 3-generation family, 0M, 4F - - Germany - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049241 - Fam794 3-generation family, 1M, 3F - - Germany - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049242 - Fam749 3-generation family, M, 6F - - Germany - - 0 - - LQT-1;RWS - 1 12 Hideki Itoh
00049243 - Fam1017 2-generation family, 1M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049244 - Fam729 3-generation family, 13M, 20F - - Germany - - 0 - - LQT-1;RWS - 1 33 Hideki Itoh
00049245 - Fam125 2-generation family, 1M, 1F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049246 - Fam584 2-generation family, 1M, 2F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049247 - Fam146 2-generation family, 2M, 0F - - Japan - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049248 - Fam26 2-generation family, 1M, 2F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049249 - B0203 2-generation family, 0M, 2F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049250 - B0168_JLN7 2-generation family, 1M, 1F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049251 - G09350 2-generation family, 2M, 0F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049252 - B0005 2-generation family, 3M, 1F - - France - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049253 - B0153 2-generation family, 1M, 1F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049254 - B0177 2-generation family, 2M, 3F - - France - - 0 - - LQT-1;RWS - 1 5 Hideki Itoh
00049255 - B0423 2-generation family, 0M, 2F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049256 - Fam32 2-generation family, 0M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049257 - B1230 2-generation family, 2M, 0F - - France - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049258 - Fam748 2-generation family, 0M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049259 - Fam20 3-generation family, 2M, 1F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049260 - Fam95 2-generation family, 0M, 2F - - Japan - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049261 - G20081 2-generation family, 1M, 3F - - France - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049262 - Fam924 2-generation family, 2M, 2F - - Germany - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049263 - P089.476 3-generation family, 9M, 9F - - Netherlands - - 0 - - LQT-1;RWS - 1 18 Hideki Itoh
00049264 - Fam21 2-generation family, 0M, 3F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049265 - B0674 2-generation family, 11M, 10F - - France - - 0 - - LQT-1;RWS - 1 21 Hideki Itoh
00049266 - G1597 2-generation family, 1M, 2F - - France - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049267 - Fam130 2-generation family, 1M, 3F - - Turkey - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
00049268 - Fam85 2-generation family, 0M, 2F - - Japan - - 0 - - LQT-1;RWS - 1 2 Hideki Itoh
00049269 - Fam73 2-generation family, 1M, 2F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049270 - JLN1 2-generation family, 1M, 2F - - Japan - - 0 - - LQT-1;RWS - 1 3 Hideki Itoh
00049271 - G4807 2-generation family, 5M, 5F - - France - - 0 - - LQT-1;RWS - 1 10 Hideki Itoh
00049272 - B0226 2-generation family, 4M, 0F - - France - - 0 - - LQT-1;RWS - 1 4 Hideki Itoh
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