All individuals with variants in gene BRAF

31 entries on 1 page. Showing entries 1 - 31.
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AscendingIndividual ID     
ID_report     
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00034558 - - - - - - - - - - - CRC cancer, colorectal 1 1 Phil Chambers
00034854 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00043993 - PubMed: Joyce 2016 - M - (United Kingdom (Great Britain)) - - - - - NS7 see paper; ... 1 1 Pia Ostergaard
00050516 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? optic nerve hypoplasia, moderately short stature, pulmonic stenosis, global developmental delay, joint laxity, abnormal facial shape 1 1 Johan den Dunnen
00050663 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? obesity, redundant neck skin, low-set posteriorly rotated ears, abnormal facial shape, abnormality of skin pigmentation, sparse eyebrow, broad forehead, downslanted palpebral fissures, ptosis, epicanthus, wide nose, short broad hands, bilateral single transverse palmar creases, short tapering fingers, clinodactyly of the 5th finger, fifth toe clinodactyly, small feet, abnormal respiratory patterns, pes planus, macroglossia, overgrowth, abnormality of the ureter, pectus excavatum, high anterior hairline 1 1 Johan den Dunnen
00226340 patient9 - - F ? - - - - - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226341 patient10 - - M ? - - - - - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226342 patient11 - - ? ? - - - - - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226343 patient12 - - F ? - - - - - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226344 patient13 - - M ? - - - - - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226345 patient14 - - M ? - - - - - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00248402 - - - M - - - - - - - - HP:0005105 (Abnormal nasal morphology); HP:0001249 (Intellectual disability); HP:0000316 (Hypertelorism); HP:0010882 (Pulmonary valve atresia); HP:0002121 (Absence seizures); HP:0000256 (Macrocephaly); HP:0010954 (Hypoplastic right heart); HP:0011220 (Prominent forehead); HP:0001744 (Splenomegaly); HP:0000475 (Broad neck) 1 1 Andreas Laner
00294338 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294339 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00302970 Pat15 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset infantile 1 1 Johan den Dunnen
00307253 Patient 55 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307257 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00361596 10DG1847 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - ID syndromic; global developmental delay, dysmorphism 1 1 Johan den Dunnen
00361616 09DG00792 PubMed: Anazi 2017 simplex case M no Saudi Arabia - - - - - ID syndromic; global developmental delay, dysmorphism and pulmonic stenosis 1 1 Johan den Dunnen
00374223 R-0597 PubMed: Ganapathy 2019 - - - India - - - - - ? Developmental delay, failure to thrive, seizures, ID, frontal bossing, macrocephaly and occular nystagmus. 1 1 Johan den Dunnen
00385872 - - - F ? Egypt - - - - - NS - 1 1 Alaaeldin Fayez
00398754 189714 - - M no - - - - - - NS7 Failure to thrive, Abnormal hepatic echogenicity, Proptosis, Hypertonia, Low-set ears, High forehead 1 1 Andreas Laner
00410430 Patient 5 - - M no China - - - - - NS7 - 1 1 Simin Zheng
00440399 PED3453.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00449826 - - - M - - (not applicable) white - - - - ID HP:0001249, HP:0007663 1 1 Marketa Wayhelova
00449977 - - - M - - (not applicable) white - - - - ? HP:0001263, HP:0004322, HP:0000957, HP:0000049 1 1 Marketa Wayhelova
00457908 - - - M - - (not applicable) white - - - - ? HP:0004322, HP:0000252, HP:0001249, HP:0000271, HP:0002334, HP:0000664, HP:0007371, HP:0001252 1 1 Marketa Wayhelova
00458260 - - - F - - (not applicable) white - - - - ? HP:0001252, HP:0025404, HP:0000483, HP:0001263 1 1 Marketa Wayhelova
00464605 - - - F - - (not applicable) white - - - - CHD HP:0001642, HP:0001631, HP:0000271 1 1 Marketa Wayhelova
00465241 - - - F - - (not applicable) white - - - - ? HP:0000271, HP:0000496, HP:0001637, HP:0001920, HP:0002900, HP:0002902, HP:0009062, HP:0012372, HP:0012444, HP:0100817 1 1 Marketa Wayhelova
00466172 - - - F - Brazil - - - - - CFC1 Intellectual disability, Hydronephrosis 1 1 Juliana Mazzeu
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