All individuals with variants in gene BRAF

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     

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Disease     

Phenotype details     

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Owner     
00034558 - - - - - - - - 0 - - CRC cancer, colorectal 1 1 Phil Chambers
00034854 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00043993 - PubMed: Joyce 2016 - M - (United Kingdom (Great Britain)) - - 0 - - NS-7 see paper; ... 1 1 Pia Ostergaard
00050516 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 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) - - 0 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 ? ? (unknown) - - 0 - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226341 patient10 - - M ? ? (unknown) - - 0 - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226342 patient11 - - ? ? ? (unknown) - - 0 - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226343 patient12 - - F ? ? (unknown) - - 0 - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226344 patient13 - - M ? ? (unknown) - - 0 - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00226345 patient14 - - M ? ? (unknown) - - 0 - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00248402 - - - M - - - - 0 - - - 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
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