All individuals with variants in gene RET

86 entries on 1 page. Showing entries 1 - 86.
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00036659 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036660 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036661 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036662 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036663 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036664 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036665 - - - - - Germany - - - - - ? medullar thyroid cancer 1 1 Andreas Laner
00036666 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036667 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036668 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036669 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036670 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036671 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036672 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036673 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036674 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036675 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036676 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036677 - - - - - Germany - - - - - ? MEN2A 1 1 Andreas Laner
00047320 - PubMed: Foppiani 2008 - M - (Italy) - - - - - MINAS neoplasia, multiple inherited alleles; cutaneous malignant melanoma <55y; Parathyroid chief cell adenoma 55y; Thyroid sclerotic papillary carcinoma 55y; Thyroid C cell hyperplasia 55y 1 1 James Whitworth
00047856 - PubMed: Mastroianno 2011 - M - (Italy) - - - - - MINAS pituitary tumour 38y; Primary hyperparathyroidism 45y; Papillary thyroid cancer 46y; Medullary thyroid cancer 46y; Gastric carcinoid tumour 47y; Gastrinoma 1 1 James Whitworth
00047857 - PubMed: Mastroianno 2011 - M - (Italy) - - - - - MINAS primary hyperparathyroidism 40y; Cushing syndrome (implied pituitary origin) 40y; Carcinoid tumour 40y; Lipoma 40y; Angiofibroma 40y; Papillary thyroid cancer 40y; Medullary thyroid cancer 40y; Gastrinoma 41y 1 1 James Whitworth
00047858 - PubMed: Mastroianno 2011 - M - (Italy) - - - - - MINAS no features 6y 1 1 James Whitworth
00047859 - PubMed: Mastroianno 2011 - F - (Italy) - - - - - MINAS primary hyperparathyroidism 13y; Pituitary tumour 15y 1 1 James Whitworth
00047871 26 PubMed: Ercolino 2014 - M - (Italy) - - - - - MINAS macrocephaly, café au lait patches and axillary freckling 57y; Kyphoscoliosis 57y; Multiple cutaneous neurofibromas 57y; Thyroid C-cell hyperplasia 57y; Parathyroid hyperplasia 57y 1 1 James Whitworth
00081502 - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - CCHS autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); no tumour 1 1 Johan den Dunnen
00208623 - - - F - Germany - - - - - - - 1 1 Andreas Laner
00210007 - - - F - Germany - - - - - - - 1 1 Andreas Laner
00222830 - - - M - - - - - - - HSCR1 - 1 1 Man Ting So
00222831 - - - M - - - - - - - HSCR1 - 1 1 Man Ting So
00222832 - - - - - - - - - - - HSCR1 - 1 1 Man Ting So
00222833 - - - - - - - - - - - MTC - 1 1 LOVD
00222834 - - - - - - - - - - - MTC - 1 1 LOVD
00222835 - - - - - - - - - - - MTC - 1 1 LOVD
00222836 - - - - - - - - - - - MTC - 1 1 LOVD
00222837 - - - - - - - - - - - MTC - 1 1 LOVD
00222838 - - - - - - - - - - - MTC - 1 1 LOVD
00222839 - - - - - - - - - - - MTC - 1 1 LOVD
00222840 - - - - - - - - - - - MTC - 1 1 LOVD
00222841 - - - - - - - - - - - MTC - 1 1 LOVD
00222842 - - - - - - - - - - - MTC - 1 1 LOVD
00222843 - - - - - - - - - - - MTC - 1 1 LOVD
00222844 - - - - - - - - - - - MTC - 1 1 LOVD
00222845 - - - - - - - - - - - MTC - 1 1 LOVD
00222846 - - - - - - - - - - - MTC - 1 1 LOVD
00222847 - - - - - - - - - - - MTC - 1 1 LOVD
00222848 - - - - - - - - - - - MTC - 1 1 LOVD
00222849 - - - - - - - - - - - MTC - 1 1 LOVD
00222850 - - - - - - - - - - - MTC - 1 1 LOVD
00222851 - - - - - - - - - - - MTC - 1 1 LOVD
00222852 - - - - - - - - - - - MTC - 1 1 LOVD
00222853 - - - - - - - - - - - MTC - 1 1 LOVD
00222854 - - - M - - - - - - - HSCR1 - 1 1 Man Ting So
00222855 - - - - - - - - - - - HSCR1 - 1 1 Man Ting So
00290039 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00290040 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00290041 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00290042 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290043 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00290044 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 182 Mohammed Faruq
00295595 - - - F - - - - - - - ? Breast carcinoma (HP:0003002) 1 1 Andreas Laner
00304242 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00307087 - - - M yes Spain - - - - - HSCR1 HP:0002251 1 2 A. Arteche-López
00308730 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00316148 K3 PubMed: Heidet 2017 affected fetus and 1st degree relative - - France - - - - - CAKUT bilateral kidney agenesis; rigth ventricular dilation 1 2 Johan den Dunnen
00316150 K32 PubMed: Heidet 2017 fetus - - France - - - - - CAKUT renal hypoplasia 1 1 Johan den Dunnen
00316180 K83 PubMed: Heidet 2017 affected patient and uncle/aunt/cousin - - France - - - - - CAKUT bilateral multicystic dysplasia 1 2 Johan den Dunnen
00316185 K91 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - CAKUT unilateral kidney agenesis 1 2 Johan den Dunnen
00375209 - - - M - - - - - - - ? Abdominal symptom (HP:0011458); Neurodevelopmental abnormality (HP:0012759); Constipation (HP:0002019); Delayed speech and language development (HP:0000750) 1 1 Andreas Laner
00396847 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396848 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396849 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396850 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396851 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396852 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396853 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396854 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396855 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396856 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00396857 - PubMed: Kim 2021 - - - Korea - - - - - ? - 1 1 Johan den Dunnen
00406993 - PubMed: Jiang 2022 analysis 486 colorectal cancer patients - - China - - - - - cancer, colon - 1 2 Johan den Dunnen
00433144 Pat125,1 PubMed: Stray-Pedersen 2017 monozygotic twins F - Ecuador - - - - - IMD immuno-osseous dysplasia, chromosomal disorder and other syndromic primary immunodeficiency diseases 1 1 Johan den Dunnen
00436397 - - - M no Hungary - - - - - cancer adrenocortical cancer 1 1 Anikó Bozsik
00451461 3bINP-045 PubMed: Vela-Amieva 2024 Co-occurrence of two different monogenic diseases (a pathogenic variant in the RET gene was identified as a secondary finding) M no Mexico Mexican - - - - HHF1 Seizure, chronic constipation, Attention deficit hyperactivity disorder. Secondary finding: Multiple endocrine neoplasia, Type IIA (OMIM: 171400) 1 1 Miriam Erandi Reyna-Fabián
00460296 - - - M no - Caucasian - - - - ? 27y-medullary thyroid cancer;73y-clear cell renal cell carcinoma 1 1 Sarah Collis
00466028 - - - - - - - - - - - HSCR - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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