All individuals with variants in gene KRAS

30 entries on 1 page. Showing entries 1 - 30.
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00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, BMD/DMD, TSC - 1 1 Global Variome, with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00034549 - - - - - France - - 0 - - cancer, lung lung cancer 1 1 Johan den Dunnen
00034550 - - - - - France - - 0 - - CRC colorectal cancer 1 1 Johan den Dunnen
00034551 - - - - - France - - 0 - - cancer, lung lung cancer 1 1 Johan den Dunnen
00034552 - - - - - France - - 0 - - CRC colorectal cancer 1 1 Johan den Dunnen
00034553 - - - - - - - - 0 - - CRC Colorectal cancer 1 1 Phil Chambers
00034554 - - - - - - - - 0 - - CRC Colorectal cancer 1 1 Phil Chambers
00034555 - - - - - - - - 0 - - CRC Colorectal cancer 1 1 Phil Chambers
00034556 - - - - - - - - 0 - - CRC Colorectal cancer 1 1 Phil Chambers
00034557 - - - - - - - - 0 - - CRC Colorectal cancer 1 1 Phil Chambers
00036031 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00043991 - PubMed: Joyce 2016 - M - (United Kingdom (Great Britain)) - - 0 - - NS3 see paper; ... 1 1 Pia Ostergaard
00043992 - PubMed: Joyce 2016 - M - (United Kingdom (Great Britain)) - - 0 - - NS3 see paper; ... 1 1 Pia Ostergaard
00081074 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - RALD;ALPS4 RAS-associated autoimmune leukoproliferative disorder (OMIM:614470) 1 1 Daniel Trujillano
00092241 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - 0 - - RALD;ALPS4 mild IDD, Rosai-Dorfmansyndrome,chronic adrenal suppression, restrictive lung disease, chronic pain and depression, peribronchopulmonary dysplasia 1 1 Johan den Dunnen
00111412 S_009 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - 0 - - NS3 Severe speech delay, moderate ID, behavioral anomalies, normal growth, facial dsymorphism, low set ears 1 1 Bernt Popp
00226346 patient15 - - F ? ? (unknown) - - 0 - - ganglioglioma - 1 1 Lisa-Marie Niestroj
00290671 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 102 Mohammed Faruq
00290672 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 138 Mohammed Faruq
00290673 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304347 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00304348 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00307145 Patient 21 PubMed: Mendonca 2021 - M no Brazil - - 0 - - RB1 Unilateral 1 1 Vanessa Mendonça
00307256 Patient 60 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307799 UK10K_FINDWGA5411395 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307800 UK10K_FINDWGA5411607 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00374403 S-6030 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Broad facies, nose abnormality, downslanting palpebral fissure, breathing and swallowing difficulties, large ears and failure to thrive. 1 1 Johan den Dunnen
00381526 - - - M no - - - - - - nevus, epidermal - 1 1 Michael Hildebrand
00402900 Pat3 PubMed: Kurolap 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States Europe;China - 0 - - NDD no perinatal findings; coarse facies, bushy eyebrows, elongated face, hypertelorism, upslanting palpebral fissures, flat nasal bridge, small nose, micrognathia; severe intellectual disability, autism spectrum disorder; irritability, self-injurious behavior; weight -2.32 SD, height -2.75 SD; microcephaly (OFC -3.09 SD); hypertonia of all extremities, decreased muscle bulk, ataxia, abnormal EEG w/o apparent seizures; MRI brain bilateral periventricular leukomalacia, partially empty sella, subependymal nodular gray matter heterotopia, bil hypo-/delayed myelination, hypoplastic pituitary gland; bilateral retinal detachment, cataract; severe scoliosis, left acetabulum dysplasia, bil hip dysplasia, bilateral coxa valga, pes planus; bilateral cryptorchidism, two large hypopigmented macules 1 1 Johan den Dunnen
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