All individuals with variants in gene RBM8A

120 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00263166 12 (mother of 10) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263167 14 (father of 13) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263168 18 (mother of 16) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 2 1 LOVD
00263169 19 - patient ? no - - >23y - - - TAR delivery 40w; platelet count (x 109/L) lowest 26 , highest 133; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263170 20 - patient ? no - - >23y - - - TAR delivery 40w, birth weight 2750g; platelet count (x 109/L) lowest 10 , highest 110; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263171 21 - patient ? no - - >26y - - - TAR delivery 40w; platelet count (x 109/L) lowest 20 , highest 53; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263172 22 - patient ? no - - >27y - - - TAR delivery 40w; platelet count (x 109/L) lowest 10 , highest 40; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance 2 1 LOVD
00263173 23 - 2-generation family, 1 affected ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263174 25 (parent of 23) - 2-generation family, parent patient ? no - - - - - - Healthy/Control - 1 1 LOVD
00263175 33 - 2-generation family, 1 affected ? no - - >29y - - - TAR delivery 41w, birth weight 3110g; platelet count (x 109/L) lowest 13 , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance 2 1 LOVD
00263176 32 (parent of 33) - 2-generation family, parent patient ? no - - - - - - Healthy/Control - 1 1 LOVD
00263177 40 - 2-generation family, 2 affecteds ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263178 41 - 2-generation family, 2 affecteds ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263179 39 (parent 2 of 40 and 41) - 2-generation family, parent 2 patients ? no - - - - - - Healthy/Control - 1 1 LOVD
00263180 49 (father of 47) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263181 52 (father of 50) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263182 54 (mother of 53) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263183 58 (father of 56) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263184 61 (father of 59) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263185 67 (father of 65) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263186 87 (father of 85) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263187 90 (mother of 85) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263188 88 - patient F no - - >4y - - - TAR birth weight 2720g; platelet count (x 109/L) lowest ? , highest 34; upper limb radii absent or hypoplastic; no lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263189 94 (father of 92) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263190 97 (father of 95) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263191 98 - patient F no - - >4y - - - TAR delivery 40w, birth weight 2910g; platelet count (x 109/L) lowest 7 , highest 295; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance 2 1 LOVD
00263192 113 - patient ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263193 117 (father of 116) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263194 122 - patient M no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263195 124 - patient F no - - >22y - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance 2 1 LOVD
00263196 127 (mother of 125 - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263197 133 (father of 132) - 2-generation family, father mother patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263198 139 - 2-generation family, 1 affected F no - - >17y - - - TAR delivery 42w, birth weight 3459g; platelet count (x 109/L) lowest 20 , highest 55; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance? 2 1 LOVD
00263199 138 (parent of 138) - 2-generation family, parent patient ? no - - - - - - Healthy/Control - 1 1 LOVD
00263200 143 (mother of 142) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263201 - - - - no - - - - - - Healthy/Control - 2 1 LOVD
00263202 - - - - no - - - - - - Healthy/Control - 1 7 LOVD
00263203 - - - - no - - - - - - Healthy/Control - 1 431 LOVD
00263204 106 (mother of 1) father? - 2-generation family, father patient ? no - - - - - - Healthy/Control - 1 1 LOVD
00263205 110 (father of 2) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263206 107 (mother of 4) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263207 111 (mother of 5) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263208 81 (mother of 6) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263209 90 (mother of 7) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263210 99 (mother of 8) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263211 100 (father of 8) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263212 15 (mother of 13) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263213 17 (father of 16) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263214 38 (parent 1 of 40 and 41) - 2-generation family, parent 2 patients ? no - - - - - - Healthy/Control - 1 1 LOVD
00263215 43 (mother of 42) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263216 48 (mother of 47) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263217 51 (mother of 50) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263218 55 (father of 53) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263219 64 - patient M no - - >23y - - - TAR platelet count (x 109/L) lowest 94 , highest 155; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263220 66 (mother of 65) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263221 69 (mother of 68) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263222 72 (mother of 70 and 71) - 2-generation family, mother 2 patients F no - - - - - - Healthy/Control - 1 1 LOVD
00263223 75 (mother of 74) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263224 77 (mother of 76) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263225 89 - patient M no - - >8y - - - TAR platelet count (x 109/L) lowest ? , highest 88; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263226 96 (mother of 95) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263227 102 (mother of 101) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263228 114 - 2-generation family, 1 affected ? no - - >8y - - - TAR delivery 42w, birth weight 2960g; platelet count (x 109/L) lowest ? , highest 43; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263229 118 (mother of 116) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263230 145 (mother of 121) - 2-generation family, mother patient F no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 1 1 LOVD
00263231 123 - patient ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263232 126 (father of 125) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263233 128 - 2-generation family, 1 affected F no - - >8y - - - TAR delivery 41w, birth weight 3544g; platelet count (x 109/L) lowest 11 , highest 178; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance 2 1 LOVD
00263234 144 (father of 142) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263235 103 (mother of 3) - 2-generation family, mother patient F no - - - - - - Healthy/Control - 1 1 LOVD
00263236 108 (father of 4) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263237 112 (father of 5) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263238 82 (father of 6) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263239 91 (father of 7) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263240 11 (father of 10) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263242 31(parent of 33) - 2-generation family, parent patient ? no - - - - - - Healthy/Control - 1 1 LOVD
00263243 44 (father of 42) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263246 73 (father of 70 and 71) - 2-generation family, father 2 patients M no - - - - - - Healthy/Control - 1 1 LOVD
00263247 78 (father of 76) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263251 131 (parent of 114) - 2-generation family, parent patient ? no - - - - - - Healthy/Control - 1 1 LOVD
00263253 129 (parent of 128) - 2-generation family, parent patient ? no - - - - - - Healthy/Control - 1 1 LOVD
00263255 - - - - no - - - - - - Healthy/Control - 1 62 LOVD
00263258 104 (father of 3) - 2-generation family, father patient M no - - - - - - Healthy/Control - 1 1 LOVD
00263259 140 - patient F no - - >9y - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality; cow milk intolerance 2 1 LOVD
00263260 13 - 2-generation family, 1 affected F no - - >5y - - - TAR delivery 40w, birth weight 2670g; platelet count (x 109/L) lowest 37 , highest 43; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263261 16 - 2-generation family, 1 affected F no - - >15y - - - TAR delivery 40w, birth weight 3150g; platelet count (x 109/L) lowest 29 , highest 64; upper limb absence of radius, ulna and humerus, hypoplasia of scapula; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance 2 1 LOVD
00263262 47 - 2-generation family, 1 affected M no - - >4m - - - TAR delivery 40w, birth weight 3450g; platelet count (x 109/L) lowest 30 , highest 233; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263263 50 - 2-generation family, 1 affected M no - - >26y - - - TAR platelet count (x 109/L) lowest ? , highest 163; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263264 53 - 2-generation family, 1 affected F no - - >1y - - - TAR birth weight 2610g; platelet count (x 109/L) lowest 10 , highest 28; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263265 56 - 2-generation family, 1 affected F no - - >34y - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263266 59 - 2-generation family, 1 affected M no - - >26y - - - TAR birth weight 2600g; platelet count (x 109/L) lowest 10 , highest 200; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263267 65 - 2-generation family, 1 affected F no - - >34y - - - TAR platelet count (x 109/L) lowest 79 , highest 142; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263268 83 - 2-generation family, 1 affected F no - - >37y - - - TAR platelet count (x 109/L) lowest 74 , highest 136; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263269 85 - 2-generation family, 1 affected F no - - >17d - - - TAR delivery 37w, birth weight 2800g; platelet count (x 109/L) lowest ? , highest 167; upper limb radii absent or hypoplasticnocardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263270 92 - 2-generation family, 1 affected M no - - >1y6m - - - TAR platelet count (x 109/L) lowest 7 , highest 65; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263271 95 - 2-generation family, 1 affected M no - - >6y - - - TAR delivery 39w, birth weight 2900g; platelet count (x 109/L) lowest 18 , highest 180; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality; cow milk intolerance? 2 1 LOVD
00263272 101 - 2-generation family, 1 affected F no - - >17y - - - TAR platelet count (x 109/L) lowest 31 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263273 116 - 2-generation family, 1 affected F no - - >8y - - - TAR delivery 40w, birth weight 3062g; platelet count (x 109/L) lowest 12 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance 2 1 LOVD
00263274 125 - 2-generation family, 1 affected ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
00263275 134 - 2-generation family, 1 affected ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? 2 1 LOVD
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.