All individuals with variants in gene SOS1

139 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

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Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00104009 Vogelaar-509A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00177014 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - 0 - - EE HP:0001252 HP:0002509 HP:0001266 HP:0000219 HP:0002705 HP:000319 HP:0000286 HP:0000494 HP:0000508 HP:0011359 HP:0100798 1 2 Anaïs Begemann
00206140 - - - - - - - - 0 - - ? Diabetes, type 2, association with 1 1 LOVD
00206141 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206142 - - unaffected carrier mother - - - - - 0 - - NS - 1 2 LOVD
00206143 - - - - - - - - 0 - - NS - 1 1 LOVD
00206144 - - # of cases: 2, fam unknown - - - - - 0 - - NS - 1 2 LOVD
00206145 - - - - - - - - 0 - - NS - 1 1 LOVD
00206146 - - - - - - - - 0 - - NS - 1 1 LOVD
00206147 - - # of cases: 1, sporadic - - - - - 0 - - NS - 1 1 LOVD
00206148 - - # of cases: 1, sporadic; 2, fam unknown - - - - - 0 - - NS - 1 3 LOVD
00206149 - - - - - - - - 0 - - NS - 1 1 LOVD
00206150 - - # of cases: 1, familial - - - - - 0 - - NS - 1 1 LOVD
00206151 - - - F no Italy - - 0 - - NS1 a myopathic appearance of the face with bilateral ptosis was evident, a high forehead, micrognatia, and slight webbing, Abnormalities of skin pigmentation included cafe-au-lait spots, lentigines and vitiligo areas 1 1 Paola Riva
00206152 - - # of cases: 1, sporadic; 3, fam unknown - - - - - 0 - - NS - 1 4 LOVD
00206153 - - - F - - - - 0 - - NS - 1 1 LOVD
00206154 - - - - - - - - 0 - - NS - 1 1 LOVD
00206155 - - # of cases: 3, sporadic; 2, fam unknown - - - - - 0 - - NS - 1 5 LOVD
00206156 - - - - - - - - 0 - - NS - 1 1 LOVD
00206157 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206158 - - - - - - - - 0 - - NS - 1 1 LOVD
00206159 - - - M - - - - 0 - - NS - 1 1 LOVD
00206160 - - - M - - - - 0 - - NS - 1 1 LOVD
00206161 - - - - - - - - 0 - - NS - 1 1 LOVD
00206162 - - - M - - - - 0 - - NS - 1 1 LOVD
00206163 - - - - - - - - 0 - - NS - 1 1 LOVD
00206164 - - - M - - - - 0 - - NS - 1 2 LOVD
00206165 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206166 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206167 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206168 - - # of cases: 1, sporadic; 1, fam unknown - - - - - 0 - - NS - 1 2 LOVD
00206169 - - - - - - - - 0 - - NS - 1 2 LOVD
00206170 - - - - - - - - 0 - - NS - 1 1 LOVD
00206171 - - 2 brothers M - - - - 0 - - NS - 1 2 LOVD
00206172 - - # of cases: 1, sporadic - - - - - 0 - - NS - 1 1 LOVD
00206173 - - # of cases: 3, sporadic; 3, fam unknown - - - - - 0 - - NS - 1 6 LOVD
00206174 - - - - - - - - 0 - - NS - 1 1 LOVD
00206175 - - - - - - - - 0 - - NS - 1 1 LOVD
00206176 - - - - - - - - 0 - - NS - 1 1 LOVD
00206177 - - # of cases: 2, fam unknown - - - - - 0 - - NS - 1 2 LOVD
00206178 - - - - - - - - 0 - - NS - 1 1 LOVD
00206179 - - - F - - - - 0 - - NS - 1 1 LOVD
00206180 - - # of cases: 1, sporadic - - - - - 0 - - NS - 1 1 LOVD
00206181 - - # of cases: 1, sporadic; 1, fam unknown - - - - - 0 - - NS - 1 2 LOVD
00206182 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206183 - - - - - - - - 0 - - NS - 1 1 LOVD
00206184 - - - - - - - - 0 - - NS - 1 1 LOVD
00206185 - - # of cases: 2, fam unknown - - - - - 0 - - NS - 1 2 LOVD
00206186 - - - - - - - - 0 - - NS - 1 1 LOVD
00206187 - - - - - - - - 0 - - NS - 2 1 LOVD
00206188 - - # of cases: 1, sporadic - - - - - 0 - - NS - 1 1 LOVD
00206189 - - - - - - - - 0 - - NS - 1 1 LOVD
00206190 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206191 - - - - - - - - 0 - - CFC1 - 1 1 LOVD
00206192 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206193 - - # of cases: 1, sporadic - - - - - 0 - - NS - 1 1 LOVD
00206194 - - # of cases: 1, sporadic, inerited from an apparently unaffected parent - - - - - 0 - - NS - 1 1 LOVD
00206195 - - - - - - - - 0 - - NS - 1 1 LOVD
00206196 - - # of cases: 4, fam unknown - - - - - 0 - - NS - 1 4 LOVD
00206197 - - - - - - - - 0 - - NS - 1 1 LOVD
00206198 - - - - - - - - 0 - - NS - 1 1 LOVD
00206199 - - - M - - - - 0 - - NS - 1 1 LOVD
00206200 - - - - - - - - 0 - - NS - 1 1 LOVD
00206201 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206202 - - - - - - - - 0 - - NS - 1 2 LOVD
00206203 - - # of cases: 3, sporadic; 8, fam unknown - - - - - 0 - - NS - 1 11 LOVD
00206204 - - - - - - - - 0 - - NS - 1 1 LOVD
00206205 - - - - - - - - 0 - - NS - 1 1 LOVD
00206206 - - - - - - - - 0 - - NS - 1 1 LOVD
00206207 - - - - - - - - 0 - - NS - 1 1 LOVD
00206208 - - - - - - - - 0 - - NS - 1 1 LOVD
00206209 - - - M - - - - 0 - - NS - 1 2 LOVD
00206210 - - - M - - - - 0 - - NS - 1 2 LOVD
00206211 - - affected mother and child - - - - - 0 - - NS - 1 2 LOVD
00206212 - - affected mother and child - - - - - 0 - - NS - 1 2 LOVD
00206213 - - affected mother and child - - - - - 0 - - NS - 1 2 LOVD
00206214 - - # of cases: 2, sporadic; 2, fam unknown - - - - - 0 - - NS - 1 4 LOVD
00206215 - - - - - - - - 0 - - NS - 1 1 LOVD
00206216 - - - - - - - - 0 - - NS - 1 2 LOVD
00206217 - - - - - - - - 0 - - NS - 1 2 LOVD
00206218 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206219 - - - - - - - - 0 - - NS - 1 1 LOVD
00206220 - - # of cases: 2, sporadic - - - - - 0 - - NS - 1 2 LOVD
00206221 - - # of cases: 2, sporadic; 7, fam unknown - - - - - 0 - - NS - 1 9 LOVD
00206222 - - - - - - - - 0 - - NS - 1 1 LOVD
00206223 - - - - - - - - 0 - - NS - 1 1 LOVD
00206224 - - - - - - - - 0 - - NS - 1 2 LOVD
00206225 - - - - - - - - 0 - - NS - 1 2 LOVD
00206226 - - - F - - - - 0 - - NS - 1 1 LOVD
00206227 - - # of cases: 1, fam unknown - - - - - 0 - - NS - 1 1 LOVD
00206228 - - - - - - - - 0 - - NS - 1 1 LOVD
00206229 - - unaffected carrier parent - - - - - 0 - - NS - 1 2 LOVD
00206230 - - - - - - - - 0 - - - - 1 1 LOVD
00206231 - - - - - - - - 0 - - - - 1 1 LOVD
00206232 - - - M - - - - 0 - - NS - 1 2 LOVD
00206233 - - - - - - - - 0 - - NS - 1 4 LOVD
00206234 - - - - - - - - 0 - - NS - 1 1 LOVD
00206235 - - - - - - - - 0 - - NS - 1 4 LOVD
00206236 - - - - - - - - 0 - - NS - 2 1 LOVD
00206237 - - - - - - - - 0 - - NS - 1 2 LOVD
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